1 1pter-p36.13 A12M2 (provisional) Adenovirus-12 chromosome modification site-1p (OMIM ID: 102920) 1pter-p36.13 CCV (provisional) Cataract, congenital, Volkmann type (OMIM ID: 115665) 1pter-p36.1 CTPP, CPP, CTPA (provisional) Cataract, posterior polar (OMIM ID: 116600) 1pter-p36.13 ENO1, PPH (confirmed) Enolase-1, alpha (OMIM ID: 172430) 1pter-p36.13 GDH (confirmed) Glucose dehydrogenase (OMIM ID: 138090) 1pter-p36 ERPL1, HLM2 (confirmed) Endogenous retroviral pol gene-like sequence 1 (oncogene HLM2) (OMIM ID: 131190) 1pter-p35 MPB1 (provisional) MYC promoter-binding protein-1 (OMIM ID: 602456) 1pter-p33 HMGCL (provisional) 3-hydroxy-3-methylglutaryl-Coenzyme A lyase (OMIM ID: 246450) 1pter-p32 AGRN (provisional) Agrin (OMIM ID: 103320) 1pter-p31.2 GNB1 (confirmed) Guanine nucleotide-binding protein, beta polypeptide-1 (OMIM ID: 139380) 1pter-p22.1 SAI1, MTS1, TFS1 (confirmed) Suppression of anchorage independence-1 (malignant transformation (OMIM ID: 154280) 1pter-p21 SCP2 (provisional) Sterol carrier protein-2 (OMIM ID: 184755) 1p36.33-p36.22 CA6 (confirmed) Carbonic anhydrase VI (OMIM ID: 114780) 1p36.3 CDC2L1 (confirmed) Cell division cycle 2-like 1 (OMIM ID: 176873) 1p36.3 CDC2L2 (provisional) Cell division cycle 2-like 2 (OMIM ID: 116951) 1p36.3 DFFB, CAD, DFF2 (provisional) DNA fragmentation factor, 40kD, beta subunit (OMIM ID: 601883) 1p36.3 HKR3 (confirmed) GLI-Kruppel family member HKR3 (OMIM ID: 165270) 1p36.3 TNFRSF18, AITR, GITR (provisional) Tumor necrosis factor receptor superfamily, member 18 (OMIM ID: 603905) 1p36.3 KCNAB2, KCNA2B (provisional) Potassium voltage-gated channel, shaker-related subfamily, beta (OMIM ID: 601142) 1p36.3 MMP21 (provisional) Matrix metalloproteinase 21 (OMIM ID: 603320) 1p36.3 MMP22 (provisional) Matrix metalloproteinase 22 (OMIM ID: 603321) 1p36.3 MTHFR (provisional) Methylenetetrahydrofolate reductase (OMIM ID: 236250) 1p36.3 RNU1A, RNU1 (confirmed) RNA, U1A small nuclear (OMIM ID: 180680) 1p36.3 TNFRSF12, DR3, LARD (confirmed) Tumor necrosis factor receptor superfamily, member 12 (OMIM ID: 603366) 1p36.3-p34.3 HTR1D (confirmed) 5-hydroxytryptamine (serotonin) receptor-1D (OMIM ID: 182133) 1p36.3-p36.2 DFFA, DFF1 (provisional) DNA fragmentation factor, 45kD, alpha subunit (OMIM ID: 601882) 1p36.3-p36.2 NB, NBS (confirmed) Neuroblastoma (neuroblastoma suppressor) (OMIM ID: 256700) 1p36.3-p36.2 PLOD (provisional) Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) (OMIM ID: 153454) 1p36.3-p36.2 SCNN1D (provisional) Sodium channel, voltage-gated, type I, delta polypeptide (OMIM ID: 601328) 1p36.3-p36.2 TNFRSF1B, TNFR2, TNFBR (confirmed) Tumor necrosis factor receptor superfamily, member 1B (OMIM ID: 191191) 1p36.3-p36.2 TNFRSF14, HVEM, TR2 (provisional) Tumor necrosis factor receptor superfamily, member 14 (herpesvirus (OMIM ID: 602746) 1p36.3-p34.1 C1QA (confirmed) Complement component-1, q subcomponent, alpha polypeptide (OMIM ID: 120550) 1p36.3-p34.1 C1QB (confirmed) Complement component-1, q subcomponent, beta polypeptide (OMIM ID: 120570) 1p36.3-p34.1 C1QG (provisional) Complement component-1, q subcomponent, gamma polypeptide (OMIM ID: 120575) 1p36.21-p35.1 EIF1A, EIF4C (provisional) Eukaryotic translation initiation factor 1A (OMIM ID: 603374) 1p36.2 FRAP1 (provisional) FK506 binding protein 12-rapamycin associated protein-1 (OMIM ID: 601231) 1p36.2 NPPA, PND, ANP (confirmed) Pronatriodilatin (atrial natriuretic peptide) (OMIM ID: 108780) 1p36.2 NPPB, BNP (confirmed) Natriuretic peptide precursor B (OMIM ID: 600295) 1p36.2 SLC2A5, GLUT5 (confirmed) Solute carrier family 2 (facilitated glucose transporter), member 5 (OMIM ID: 138230) 1p36.2-p36.13 PGD (confirmed) 6-phosphogluconate dehydrogenase (OMIM ID: 172200) 1p36.2-p36.12 PAX7 (confirmed) Paired box homeotic gene-7 (OMIM ID: 167410) 1p36.2-p36.1 FGR, SRC2 (provisional) Oncogene FGR (OMIM ID: 164940) 1p36.2-p36.1 GLC3B (provisional) Glaucoma 3, primary infantile, B (OMIM ID: 600975) 1p36.2-p35 CDA (confirmed) Cytidine deaminase (OMIM ID: 123920) 1p36.2-p34 EPB41, EL1 (confirmed) Erythrocyte surface protein band 4.1 (OMIM ID: 130500) 1p36.2-p34 RD (confirmed) Radin blood group (OMIM ID: 111620) 1p36.2-p34 RHCE (confirmed) Rhesus system C and E polypeptides (OMIM ID: 111700) 1p36.2-p34 RHD (confirmed) Rhesus system D polypeptide (OMIM ID: 111680) 1p36.2-p34 SC (confirmed) Scianna blood group (OMIM ID: 111750) 1p36.13-p36.12 ID3 (confirmed) Inhibitor of DNA binding 3, dominant negative, helix-loop-helix (OMIM ID: 600277) 1p36.13-p36.11 D1S1733E, DAN (provisional) Differential-screening-selected gene aberrant in neuroblastoma (OMIM ID: 600613) 1p36.1-p35 B120 (provisional) Brain protein 120 (OMIM ID: 603024) 1p36.1 CAPZB, CAPPB (provisional) Capping protein (actin filament) muscle Z-line, beta (OMIM ID: 601572) 1p36.1 CDC42 (tentative) Cell division cycle 42 (GTP-binding protein, 25kD) (OMIM ID: 116952) 1p36.1 CHC1, RCC1 (confirmed) Regulator of chromosome condensation (OMIM ID: 179710) 1p36.1 DDOST, OST, OST48 (provisional) Dolichyl-diphosphooligosaccharide-protein glycosyltransferase (OMIM ID: 602202) 1p36.1 ECE1 (confirmed) Endothelin converting enzyme 1 (OMIM ID: 600423) 1p36.1 EPHA2, ECK (provisional) Ephrin receptor EphA2 (OMIM ID: 176946) 1p36.1 EXTL1 (provisional) Exostoses (multiple)-like 1 (OMIM ID: 601738) 1p36.1 HMG17 (confirmed) Nonhistone chromosomal protein HMG-17 (OMIM ID: 163910) 1p36.1 HSPG2, PLC (confirmed) Heparan sulfate proteoglycan of basement membrane (perlecan) (OMIM ID: 142461) 1p36.1 PRKACB (provisional) Protein kinase, cAMP-dependent, catalytic, beta (OMIM ID: 176892) 1p36.1 RNU17A, RNE1 (confirmed) RNA, U17a small nucleolar (OMIM ID: 180645) 1p36.1 RNU17B (provisional) RNA, U17b small nucleolar (OMIM ID: 603239) 1p36.1 RSC1A1, RS1 (provisional) Regulatory solute carrier protein, family 1, member 1 (OMIM ID: 601966) 1p36.1 TCEB3 (provisional) Transcription elongation factor B (SIII), polypeptide 3 (110kD, (OMIM ID: 600786) 1p36.1 TRN (provisional) tRNA asparagine (OMIM ID: 189880) 1p36.1 U17HG (provisional) U17 host gene (OMIM ID: 603238) 1p36.1-p35 EPHB2, EPHT3, DRT, ERK (provisional) eph tyrosine kinase 3 (ephrin receptor EphB2) (OMIM ID: 600997) 1p36.1-p35 LAP18, SMN (provisional) Leukemia-associated phosphoprotein p18 (stathmin) (OMIM ID: 151442) 1p36.1-p35 MEMO1 (provisional) Methylation modifier for class I HLA (OMIM ID: 601201) 1p36.1-p35 MFAP2, MAGP, MAGP1 (provisional) Microfibrillar-associated protein-2 (OMIM ID: 156790) 1p36.1-p35 RAP1GA1 (provisional) RAP1, GTPase activating protein 1 (OMIM ID: 600278) 1p36.1-p35 SDHB, SDH1, SDHIP (confirmed) Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) (OMIM ID: 185470) 1p36.1-p35 SLC9A1, NHE1, APNH (confirmed) Solute carrier family 9 (sodium/hydrogen exhanger), isoform 1 (OMIM ID: 107310) 1p36.1-p34 SJS, SJA (provisional) Schwartz-Jampel syndrome (OMIM ID: 255800) 1p36.1-p34.3 GPR3 (confirmed) G protein-coupled receptor-3 (OMIM ID: 600241) 1p36.1-p34.3 OPRD1 (provisional) Opioid receptor, delta-1 (OMIM ID: 165195) 1p36.1-p34 ALPL, HOPS (confirmed) Alkaline phosphatase, liver/bone/kidney (OMIM ID: 171760) 1p36 ALDH4, P5CDH (provisional) Aldehyde dehydrogenase-4 (delta-1-pyrroline 5-carboxylate (OMIM ID: 239510) 1p36 BRCD2 (provisional) Breast cancer, ductal (OMIM ID: 211420) 1p36 CBFA3, PEBP2A3, AML2 (confirmed) Core-binding factor, runt domain, alpha subunit 3 (OMIM ID: 600210) 1p36 CLCN6 (provisional) Chloride channel 6 (OMIM ID: 602726) 1p36 CLCNKA (confirmed) Chloride channel, kidney, A (OMIM ID: 602024) 1p36 CLCNKB (confirmed) Chloride channel, kidney, B (OMIM ID: 602023) 1p36 CMM, MLM, DNS (provisional) Cutaneous malignant melanoma/dysplastic nevus (OMIM ID: 155600) 1p36 DVL1 (confirmed) Dishevelled 1 (homologous to Drosophila dsh) (OMIM ID: 601365) 1p36 CORT (tentative) Cortistatin (OMIM ID: 602784) 1p36 E2F2 (provisional) E2F transcription factor 2 (OMIM ID: 600426) 1p36 EYA3 (provisional) Eyes absent, Drosophila, homolog of, 3 (OMIM ID: 601655) 1p36 LUZP (tentative) Leucine zipper protein (OMIM ID: 601422) 1p36 PCBC, CAPB (provisional) Prostate cancer-brain cancer susceptibility (OMIM ID: 603688) 1p36 RIZ (provisional) Retinoblastoma protein-binding zinc-finger protein (OMIM ID: 601196) 1p36 TNFRSF4, TXGP1L, OX40, ACT35 (provisional) Tumor necrosis factor receptor superfamily, member 4 (OMIM ID: 600315) 1p36 TNFRSF8, CD30, D1S166E (provisional) Tumor necrosis factor receptor superfamily, member 8 (OMIM ID: 153243) 1p36 TNFRSF9, ILA, CD137 (provisional) Tumor necrosis factor receptor superfamily, member 9 (OMIM ID: 602250) 1p36 TP73 (provisional) p53-related protein (OMIM ID: 601990) 1p36 TRE (provisional) tRNA glutamic acid (OMIM ID: 180640) 1p36-p35 CMT2A (provisional) Charcot-Marie-Tooth neuropathy-2A (hereditary motor sensory neuropathy (OMIM ID: 118210) 1p36-p35 GALE (confirmed) UDP galactose-4-epimerase (OMIM ID: 230350) 1p36-p35 HTR6 (provisional) 5-hydroxytryptamine (serotonin) receptor-6 (OMIM ID: 601109) 1p36-p35 MDRS1 (provisional) Muscular dystrophy, congenital, with early spine rigidity (OMIM ID: 602771) 1p36-p34.1 SCCD (provisional) Schnyder crystalline corneal dystrophy (OMIM ID: 121800) 1p36-p34 PLA2G5 (provisional) Phospholipase A2, group V (OMIM ID: 601192) 1p36-p22 SRM, SPS1 (confirmed) Spermidine synthase-1 (OMIM ID: 182891) 1p35.1 GJB3, CX31 (provisional) Gap junction protein, beta-3 (OMIM ID: 603324) 1p35.1 GJA4, CX37 (confirmed) Gap junction protein, alpha-4, 37kD (connexin 37) (OMIM ID: 121012) 1p35.1 P28 (provisional) Inner dynein arm, clamydomonas, homolog of (OMIM ID: 602135) 1p35 BAI2 (provisional) Brain-specific angiongenesis inhibitor-2 (OMIM ID: 602683) 1p35 EBVS1 (provisional) Epstein-Barr virus integration site (OMIM ID: 132850) 1p35 G1P3, IFI616 (confirmed) Interferon, alpha-inducible protein (clone IFI-6-16) (OMIM ID: 147572) 1p35 MATN1, CRTM, CMP (confirmed) Matrilin 1, cartilage matrix protein (OMIM ID: 115437) 1p35 PLA2G2A, PLA2B, PLA2L, MOM1 (confirmed) Phospholipase A2, group IIA (platelets, synovial fluid) (OMIM ID: 172411) 1p35 PTP4A1 (provisional) Protein tyrosine phosphatase IVA1 (OMIM ID: 601584) 1p35 RPA2 (provisional) Replication protein A2 (32kD) (OMIM ID: 179836) 1p35-p34.3 CSF3R, GCSFR (confirmed) Colony-stimulating factor-3 receptor (granulocyte) (OMIM ID: 138971) 1p35-p34.3 LCK (confirmed) Lymphocyte-specific protein tyrosine kinase (OMIM ID: 153390) 1p35-p34.3 PTAFR (confirmed) Platelet-activating factor receptor (OMIM ID: 173393) 1p35-p34 GUCA2A, GUCA2 (provisional) Guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable) (OMIM ID: 139392) 1p35-p32 BMP8, OP2 (tentative) Bone morphogenetic protein-8 (osteogenic protein 2) (OMIM ID: 602284) 1p35-p31.3 SLC2A1, GLUT1 (confirmed) Solute carrier family 2 (facilitated glucose transporter), member 1 (OMIM ID: 138140) 1p34.4-p32.3 COL8A2 (provisional) Collagen VIII, alpha-2 polypeptide (OMIM ID: 120252) 1p34.3 MYCL1, LMYC (confirmed) Oncogene MYC, lung carcinoma-derived (OMIM ID: 164850) 1p34.2 PSMB2 (provisional) Proteasome subunit, beta type, 2 (OMIM ID: 602175) 1p34.2-p33 NDUFS5 (confirmed) NADH-ubiquinone oxidoreductase Fe-S protein 5 (OMIM ID: 603847) 1p34.1 CTPS (confirmed) Cytidine 5'-triphosphate synthetase (OMIM ID: 123860) 1p34.1 HDAC1, RPD3L1 (provisional) Histone deacetylase-1 (OMIM ID: 601241) 1p34.1 PAGA (provisional) Proliferation-associated gene A (OMIM ID: 176763) 1p34.1 POU3F1 (provisional) POU domain, class 3, transcription factor-1 (OMIM ID: 602479) 1p34.1-p32 FH3 (provisional) Hypercholesterolemia, familial, 3 (OMIM ID: 603776) 1p34.1-p32 PTOS1 (provisional) Ptosis, congenital 1 (autosomal dominant) (OMIM ID: 178300) 1p34.1-p32 RPS8 (provisional) Ribosomal protein S8 (OMIM ID: 600357) 1p34 AK2 (confirmed) Adenylate kinase-2, mitochondrial (OMIM ID: 103020) 1p34 COL16A1 (confirmed) Collagen XVI, alpha-1 polypeptide (OMIM ID: 120326) 1p34 DFNA2 (confirmed) Deafness, autosomal dominant 2 (OMIM ID: 600101) 1p34 DPH2L2 (provisional) Diphthamide biosynthesis protein 2, S. cerevisiae, homolog-like 2 (OMIM ID: 603456) 1p34 EDN2 (confirmed) Endothelin-2 (OMIM ID: 131241) 1p34 ELAVL4, HUD, PNEM (confirmed) Embryonic lethal, abnormal vision, Drosophila, homolog of, like-4 (OMIM ID: 168360) 1p34 FHL3, SLIM2 (provisional) Four-and-a-half LIM domains-3 (OMIM ID: 602790) 1p34 FUCA1 (confirmed) Fucosidase, alpha-L- 1, tissue (OMIM ID: 230000) 1p34 INPP5B (provisional) Inositol polyphosphate-5-phosphatase, 75kD (OMIM ID: 147264) 1p34 KCNQ4, DFNA2 (provisional) Potassium voltage-gated channel, KQT-like subfamily, member 4 (OMIM ID: 603537) 1p34 LAPTM5 (provisional) Lysosomal-associated multispanning membrane protein-5 (OMIM ID: 601476) 1p34 LRP8, APOER2 (provisional) Low density lipoprotein receptor-related protein 8 (Apolipoportein E (OMIM ID: 602600) 1p34 MLP, MRP (confirmed) MARCKS-like protein (OMIM ID: 602940) 1p34 MPL, TPOR, MPLV (provisional) Myeloproliferative leukemia virus, homolog of (OMIM ID: 159530) 1p34 UROD (confirmed) Uroporphyrinogen decarboxylase (OMIM ID: 176100) 1p34 YB1 (provisional) Major histocompatibility complex, class II, Y box-binding protein I (OMIM ID: 154030) 1p34-p33 GRIK3, GLUR7 (provisional) Glutamate receptor, ionotropic, kainate 3 (OMIM ID: 138243) 1p34-p33 GUCA2B, UGN (provisional) Guanylate cyclase activator 2B (uroguanylin) (OMIM ID: 601271) 1p34-p33 MAGOH (provisional) Mago nashi, drosophila, homolog of, proliferation-associated (OMIM ID: 602603) 1p34-p33 TIE, JTK14, TIE1 (provisional) Tyrosine kinase with immunoglobulin and epidermal growth factor (OMIM ID: 600222) 1p34-p32 FKHL17, FREAC9 (provisional) Forkhead, drosophila, homolog-like 17 (OMIM ID: 602211) 1p34-p12 CYP4B1 (provisional) Cytochrome P450, subfamily IVB, polypeptide 1 (OMIM ID: 124075) 1p34-p12 DDIT1, GADD45 (provisional) DNA damage-inducible transcript-1 (OMIM ID: 126335) 1p33 MTF1 (provisional) Metal-regulatory transcription factor 1 (OMIM ID: 600172) 1p33 SLC6A9, GLYT1 (confirmed) Solute carrier family 6 (neurotransmitter transporter, glycine), (OMIM ID: 601019) 1p33-p32.2 COL9A2, EDM2 (confirmed) Collagen IX, alpha-2 polypeptide (OMIM ID: 120260) 1p33-p32 DIO1, TXDI1 (provisional) Deiodinase, iodothyronine, type I (OMIM ID: 147892) 1p33-p32 TGFBR3 (provisional) Transforming growth factor, beta receptor III (betaglycan, (OMIM ID: 600742) 1p33-p31 FABP3 (confirmed) Fatty acid-binding protein 3, muscle (OMIM ID: 134651) 1p32.2 NRD1 (confirmed) Nardilysin (N-arginine dibasic convertase) (OMIM ID: 602651) 1p32.1-p31.3 USP1 (provisional) Ubiquitin-specific protease 1 (OMIM ID: 603478) 1p32 BLYM (provisional) Avian lymphoma virus-derived transforming sequence (OMIM ID: 164830) 1p32 C8A (confirmed) Complement component-8, alpha polypeptide (OMIM ID: 120950) 1p32 C8B (confirmed) Complement component-8, beta polypeptide (OMIM ID: 120960) 1p32 CDKN2C, INK4C (provisional) Cyclin-dependent kinase inhibitor 2C (OMIM ID: 603369) 1p32 CPT2 (confirmed) Carnitine palmitoyltransferase II (OMIM ID: 600650) 1p32 EPS15 (provisional) Epidermal growth factor receptor pathway substrate-15 (OMIM ID: 600051) 1p32 FKHL12 (provisional) Forkhead, drosophila, homolog-like 12 (OMIM ID: 601094) 1p32 ORC1L, HSORC1 (provisional) Origin recognition complex, subunit 1, S. cerevisiae, homolog-like (OMIM ID: 601902) 1p32 PPT, CLN1 (confirmed) Palmitoyl-protein thioesterase (OMIM ID: 600722) 1p32 PTPRF, LAR (provisional) Protein tyrosine phosphatase, receptor type, f polypeptide (OMIM ID: 179590) 1p32 RAD54L, HR54, HRAD54 (provisional) RAD54, S. cerevisiae, homolog-like (OMIM ID: 603615) 1p32 RLF (confirmed) Rearranged L-myc fusion sequence (OMIM ID: 180610) 1p32 SIL (confirmed) SCL interrupting locus (OMIM ID: 181590) 1p32 TAL1, TCL5, SCL (confirmed) T-cell acute lymphocytic leukemia-1 (OMIM ID: 187040) 1p32 UMPK (confirmed) Uridine monophosphate kinase (OMIM ID: 191710) 1p32-p31 DAB1 (provisional) Disabled, drosophila, homolog 1 (OMIM ID: 603448) 1p32-p31 JUN (confirmed) Avian sarcoma virus 17 (v-jun) oncogene homolog (OMIM ID: 165160) 1p32-p31 NTRKR1, ROR1 (provisional) Neurotrophic tyrosine kinase, receptor-related 1 (OMIM ID: 602336) 1p32-p31 RAB3B (provisional) Brain antigen RAB3B (OMIM ID: 179510) 1p32-p31 VCAM1 (provisional) Vascular cell adhesion molecule-1 (OMIM ID: 192225) 1p32-p22 IPP (provisional) Intracisternal A particle-promoted polypeptide (OMIM ID: 147485) 1p32-q12 M1S1 (provisional) Membrane component, chromosome 1, surface marker 1 (40kD glycoprotein, (OMIM ID: 137290) 1p31.3 JAK1 (confirmed) Janus kinase 1 (a protein-tyrosine kinase) (OMIM ID: 147795) 1p31.3-p31.2 CYP2J2 (provisional) Cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase), (OMIM ID: 601258) 1p31.3-p31.2 NFIA (provisional) Nuclear factor I/A (OMIM ID: 600727) 1p31.2 IL12RB2 (confirmed) Interleukin 12 receptor, beta-2 (OMIM ID: 601642) 1p31.2 PTGER3, EP3 (provisional) Prostaglandin E receptor 3, EP3 subtype (OMIM ID: 176806) 1p31.1 PTGFR (provisional) Prostaglandin F receptor (FP) (OMIM ID: 600563) 1p31 ACADM, MCAD (provisional) Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain (OMIM ID: 201450) 1p31 AIR (provisional) Acute insulin response (OMIM ID: 601676) 1p31 BSND (provisional) Bartter syndrome, infantile, with sensorineural deafness (OMIM ID: 602522) 1p31 CLK2 (confirmed) CDC-like kinase 2 (OMIM ID: 602989) 1p31 DBT, BCATE2 (confirmed) Dihydrolipoamide branched chain transacylase (E2 component of (OMIM ID: 248610) 1p31 LEPR, OBR (provisional) Leptin receptor (OMIM ID: 601007) 1p31 MSH4 (provisional) mutS (E. coli) homolog 4 (OMIM ID: 602105) 1p31 PDE4B, DPDE4 (confirmed) Phosphodiesterase-4B, cAMP-specific (dunce (Drosophila)-homolog (OMIM ID: 600127) 1p31 PGM1 (confirmed) Phosphoglucomutase-1 (OMIM ID: 171900) 1p31 PIN1L (provisional) Peptidyl-prolyl cis/trans isomerase, NIMA-interacting-like (OMIM ID: 602051) 1p31 PRKAA2, AMPK (provisional) Protein kinase, AMP-activated, alpha-2 catalytic subunit (OMIM ID: 600497) 1p31 RPE65 (confirmed) Retinal pigment epithelium-specific protein (65kD) (OMIM ID: 180069) 1p31-p22 CLCA1 (provisional) Chloride channel, calcium-activated, 1 (OMIM ID: 603906) 1p31-p22 CRYZ (provisional) Crystallin, zeta (quinone reductase) (OMIM ID: 123691) 1p31-p22 RABGGTB (provisional) Rab geranylgeranyltransferase, beta subunit (OMIM ID: 179080) 1p31-p21 AVSD, AVCD (provisional) Atrioventricular canal defect 1 (OMIM ID: 600309) 1p22.3 IGFBP10, CYR61 (confirmed) Insulin-like growth factor-binding protein-10 (OMIM ID: 602369) 1p22.1 DR1 (provisional) Down-regulator of transcription 1, TBP-binding (negative cofactor 2) (OMIM ID: 601482) 1p22.1 GLCLR (confirmed) Glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), (OMIM ID: 601176) 1p22 BCL10 (provisional) B-cell leukemia/lymphoma 10 (OMIM ID: 603517) 1p22 CDC7L1, CDC7 (provisional) Cell division cycle 7, S. Cerevisiae, homolog-like 1 (OMIM ID: 603311) 1p22 CTB (provisional) Chitobiase, di-N-acetyl- (OMIM ID: 600873) 1p22 D1S155E, UNR (provisional) NRAS-related gene (OMIM ID: 191510) 1p22 DPYD, DPD (confirmed) Dihydropyrimidine dehydrogenase (OMIM ID: 274270) 1p22 GFI1, ZNF163 (provisional) Growth factor independent 1 (OMIM ID: 600871) 1p22 GNG5 (provisional) Guanine nucleotide-binding protein (G protein), gamma 5 (OMIM ID: 600874) 1p22 NB4S (provisional) Neuroblastoma stage 4S gene (OMIM ID: 602942) 1p22 UOX (provisional) Urate oxidase (OMIM ID: 191540) 1p22-p21 CNN3 (provisional) Calponin 3, acidic (OMIM ID: 602374) 1p22-p21 F3, TFA (confirmed) Coagulation factor III (OMIM ID: 134390) 1p22-p21 PXMP1, PMP70 (provisional) Peroxisomal membrane protein-1 (70kD) (OMIM ID: 170995) 1p21.3-p13.1 SORT1 (provisional) Sortilin (OMIM ID: 602458) 1p21 AGL, GDE (confirmed) Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen (OMIM ID: 232400) 1p21 AMY1A (confirmed) Amylase, salivary, alpha-1A (OMIM ID: 104700) 1p21 AMY1B (confirmed) Amylase, salivary, alpha-1B (OMIM ID: 104701) 1p21 AMY1C (confirmed) Amylase, salivary, alpha-1C (OMIM ID: 104702) 1p21 AMY2A (confirmed) Amylase, pancreatic, alpha-2A (OMIM ID: 104650) 1p21 AMY2B (confirmed) Amylase, pancreatic, alpha-2B (OMIM ID: 104660) 1p21 CHRNB2 (provisional) Cholinergic receptor, nicotinic, beta polypeptide-2 (OMIM ID: 118507) 1p21 COL11A1 (confirmed) Collagen XI, alpha-1 polypeptide (OMIM ID: 120280) 1p21 KCNC4 (confirmed) Potassium voltage-gated channel, Shaw-related subfamily, member 4 (OMIM ID: 176265) 1p21 OPTA2 (provisional) Osteopetrosis, autosomal dominant, type II (OMIM ID: 166600) 1p21-p13.3 CD53, MOX44 (confirmed) CD53 antigen (OMIM ID: 151525) 1p21-p13.3 KCNA3 (confirmed) Potassium voltage-gated channel, shaker-related subfamily, member 3 (OMIM ID: 176263) 1p21-p13 ABCR, STGD1, FFM (confirmed) ATP-binding transporter, retina-specific (OMIM ID: 601691) 1p21-p13 ADORA3 (confirmed) Adenosine A3 receptor (OMIM ID: 600445) 1p21-p13 ARHC, ARH9, RHOH9 (provisional) RAS homolog gene family, member C (oncogene RHO H9) (OMIM ID: 165380) 1p21-p13 AMPD1 (provisional) Adenosine monophosphate deaminase-1 (muscle) (OMIM ID: 102770) 1p21-p13 CSF1, MCSF (confirmed) Colony-stimulating factor-1 (macrophage) (OMIM ID: 120420) 1p21-p13 RP19 (provisional) Retinitis pigmentosa-19 (OMIM ID: 601718) 1p21-p13.3 WS2B (provisional) Waardenburg syndrome, type 2B (OMIM ID: 600193) 1p13.3 AMPD2 (confirmed) Adenosine monophosphate deaminase-2 (isoform L) (OMIM ID: 102771) 1p13.3 GSTM1 (confirmed) Glutathione S-transferase M1 (OMIM ID: 138350) 1p13.3 GSTM2, GST4 (confirmed) Glutathione S-transferase M2, muscle (OMIM ID: 138380) 1p13.3 GSTM3, GST5 (provisional) Glutathione S-transferase M3, brain (OMIM ID: 138390) 1p13.3 GSTM4 (confirmed) Glutathione S-transferase M4 (OMIM ID: 138333) 1p13.3 GSTM5 (provisional) Glutathione S-transferase M5 (OMIM ID: 138385) 1p13.3 RAP1A, KREV1 (confirmed) RAS-related protein RAP1A (OMIM ID: 179520) 1p13.3-p11 CASQ2 (provisional) Calsequestrin, fast-twitch, skeletal muscle-2 (OMIM ID: 114251) 1p13.2 NRAS (confirmed) Neuroblastoma RAS viral (v-ras) oncogene homolog (OMIM ID: 164790) 1p13.2-p12 SLC16A1, MCT1 (provisional) Solute carrier family 16 (monocarboxylic acid transporters), (OMIM ID: 600682) 1p13.1 CD2 (confirmed) CD2 antigen (p50), sheep red blood cell receptor (OMIM ID: 186990) 1p13.1 HSD3B1 (confirmed) Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid (OMIM ID: 109715) 1p13.1 HSD3B2 (confirmed) Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid (OMIM ID: 201810) 1p13.1 KCNA10 (provisional) Potassium voltage-gated channel, shaker-related subfamily, member 10 (OMIM ID: 602420) 1p13.1 NGFB (confirmed) Nerve growth factor, beta (OMIM ID: 162030) 1p13.1-q21.3 PTGFRN, FPRP (provisional) Prostaglandin F2 receptor negative regulator (OMIM ID: 601204) 1p13 CD58, LFA3 (confirmed) CD58 antigen (lymphocyte function-associated antigen 3) (OMIM ID: 153420) 1p13 GNAI3 (confirmed) Guanine nucleotide-binding protein (G-protein), alpha-inhibiting (OMIM ID: 139370) 1p13 GNAT2 (confirmed) Guanine nucleotide-binding protein (G-protein), alpha-transducing (OMIM ID: 139340) 1p13 IGSF3 (provisional) Immunoglobulin superfamily, member 3 (OMIM ID: 603491) 1p13 PSMA5, PSC5 (provisional) Proteasome component 5 (OMIM ID: 176844) 1p13 SYCP1, SCP1 (provisional) Synaptonemal complex protein-1 (OMIM ID: 602162) 1p13 TSHB (confirmed) Thyroid-stimulating hormone, beta polypeptide (OMIM ID: 188540) 1p13 WNT13, XWNT2 (provisional) Wingless-type MMTV integration site family, member 13 (OMIM ID: 601968) 1p13-p12 HMGCS2 (provisional) 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (OMIM ID: 600234) 1p13-p11 ATP1A1 (confirmed) ATPase, Na+K+ transporting, alpha-1 polypeptide (OMIM ID: 182310) 1p13-p11 NOTCH2 (provisional) Notch (Drosophila) homolog 2 (OMIM ID: 600275) 1p13-q23 RP18 (provisional) Retinitis pigmentosa-18 (OMIM ID: 601414) 1p12 FCGR1B (provisional) Fc fragment of IgG, high affinity Ib, receptor for (CD64) (OMIM ID: 601502) 1p12-p11 EXTL2 (provisional) Exostoses, multiple, like 2 (OMIM ID: 602411) 1p12-p11 NHLH2, HEN2 (provisional) Nescient helix loop helix 2 (OMIM ID: 162361) 1p11-q11 CMD1A, CDCD1 (provisional) Cardiomyopathy, dilated, 1A, autosomal dominant (OMIM ID: 115200) 1p11-qter EPHX1 (provisional) Epoxide hydroxylase 1, microsomal (xenobiotic) (OMIM ID: 132810) 1p BRDT (provisional) Bromodomain, testis-specific (OMIM ID: 602144) 1p CSE, DYT9 (provisional) Choreoathetosis/spasticity, episodic (paroxysmal (OMIM ID: 601042) 1p GABRD (provisional) Gamma-aminobutyric acid (GABA) A receptor, delta (OMIM ID: 137163) 1p PCHC (provisional) Pheochromocytoma (OMIM ID: 171300) 1p RPL5 (provisional) Ribosomal protein L5 (OMIM ID: 603634) 1cen-q12 ADSS (provisional) Adenylosuccinate synthetase (Ade(-)H-complementing) (OMIM ID: 103060) 1cen-q21 PSORS4 (provisional) Psoriasis susceptibility 4 (OMIM ID: 603935) 1q HFE2 (provisional) Hemochromatosis, type 2 (OMIM ID: 602390) 1q HSPA6 (provisional) Heat-shock 70kD protein-6 (HSP70B') (OMIM ID: 140555) 1q HSPA7 (provisional) Heat-shock 70kD protein-7 (HSP70B) (OMIM ID: 140556) 1q KCNJ10 (tentative) Potassium inwardly-rectifying channel, subfamily J, member 10 (OMIM ID: 602208) 1q LRE2 (provisional) LINE retrotransposable element-2 (OMIM ID: 151628) 1q PMX1, PHOX1 (tentative) Paired mesoderm homeo box 1 (OMIM ID: 167420) 1q SYT2 (tentative) Synaptotagmin-2 (OMIM ID: 600104) 1q11-q21 LGMD1B (provisional) Limb-girdle muscular dystrophy-1B, autosomal dominant (OMIM ID: 159001) 1q12-q21 S100A8, CAGA, CFAG (provisional) S100 calcium-binding protein A8 (calgranulin A) (OMIM ID: 123885) 1q12-q22 S100A9, CAGB, CFAG (provisional) S100 calcium-binding protein A9 (calgranulin B) (OMIM ID: 123886) 1q12-q22 TRNL (provisional) tRNA asparagine-like (OMIM ID: 189890) 1q12-q23 DPT (provisional) Dermatopontin (OMIM ID: 125597) 1q12-q23 MEF2D (provisional) MADS box transcription enhancer factor 2, polypeptide D (myocyte (OMIM ID: 600663) 1q12-qter NTRKR3 (provisional) Neurotrophic tyrosine kinase, receptor-related 3 (OMIM ID: 191311) 1q21 A12M3 (provisional) Adenovirus-12 chromosome modification site-1q2 (OMIM ID: 102940) 1q21 ANX31 (provisional) Annexin XXXI (OMIM ID: 603319) 1q21 ARNT (confirmed) Aryl hydrocarbon receptor nuclear translocator (OMIM ID: 126110) 1q21 BCL9 (provisional) B-cell CLL/lymphoma-9 (OMIM ID: 602597) 1q21 CASQ1 (confirmed) Calsequestrin, fast-twitch, skeletal muscle-1 (OMIM ID: 114250) 1q21 CTSK (provisional) Cathepsin K (OMIM ID: 601105) 1q21 CTSS (provisional) Cathepsin S (OMIM ID: 116845) 1q21 DAP3 (provisional) Death associated protein 3 (OMIM ID: 602074) 1q21 ECM1 (provisional) Extracellular matrix protein-1 (OMIM ID: 602201) 1q21 FCGR1C (provisional) Fc fragment of IgG, high affinity Ic, receptor for (CD64) (OMIM ID: 601503) 1q21 FLG (confirmed) Filaggrin (OMIM ID: 135940) 1q21 GBA (confirmed) Glucosidase, beta; acid (OMIM ID: 230800) 1q21 GENEY (provisional) Gene Y (OMIM ID: 600986) 1q21 H3F2 (provisional) H3 histone, family 2 (OMIM ID: 142780) 1q21 H4F2 (provisional) H4 histone, family 2 (OMIM ID: 142750) 1q21 IL6R (confirmed) Interleukin-6 receptor (OMIM ID: 147880) 1q21 IVL (confirmed) Involucrin (OMIM ID: 147360) 1q21 LOR (confirmed) Loricrin (OMIM ID: 152445) 1q21 KCNN3, SK3, SKCA3 (provisional) Potassium channel, calcium-activated, intermediate/small conductance, (OMIM ID: 602983) 1q21 MCKD1 (provisional) Medullary cystic kidney disease 1, autosomal dominant (OMIM ID: 174000) 1q21 MCL1 (provisional) Myeloid cell leukemia sequence 1 (BCL2-related) (OMIM ID: 159552) 1q21 MCSP (provisional) Mitochondrial capsule selenoprotein (OMIM ID: 601148) 1q21 MTX1, MTXN (provisional) Metaxin 1 (OMIM ID: 600605) 1q21 MUC1, PUM (confirmed) Mucin 1, transmembrane (OMIM ID: 158340) 1q21 PKLR, PK1 (confirmed) Pyruvate kinase, liver and RBC type (OMIM ID: 266200) 1q21 PRCC, RCCP1 (confirmed) Papillary renal cell carcinoma (translocation-associated) (OMIM ID: 179755) 1q21 PSMB4 (provisional) Proteasome subunit, beta type, 4 (OMIM ID: 602177) 1q21 RORC, RORG, RZRG (provisional) RAR-related orphan receptor C (OMIM ID: 602943) 1q21 S100A1 (confirmed) S100 protein, alpha polypeptide (OMIM ID: 176940) 1q21 S100A2, S100L (provisional) S100 calcium-binding protein A2 (OMIM ID: 176993) 1q21 S100A3, S100E (provisional) S100 calcium-binding protein A3 (OMIM ID: 176992) 1q21 S100A4, CAPL (provisional) S100 calcium-binding protein A4 (calcium protein, calvasculin, (OMIM ID: 114210) 1q21 S100A5, S100D (provisional) S100 calcium-binding protein A5 (OMIM ID: 176991) 1q21 S100A6, CACY (confirmed) S100 calcium-binding protein A6 (calcyclin) (OMIM ID: 114110) 1q21 S100A7 (confirmed) S100 calcium-binding protein A7 (OMIM ID: 600353) 1q21 S100A10, CAL1L (confirmed) S100 calcium-binding protein A10 (annexin II ligand, calpactin I, (OMIM ID: 114085) 1q21 S100A11 (provisional) S100 calcium-binding protein A11 (OMIM ID: 603114) 1q21 S100A12, CAAF1, CGRP (provisional) S100 calcium-binding protein A12 (OMIM ID: 603112) 1q21 S100A13 (provisional) S100 calcium-binding protein A13 (OMIM ID: 601989) 1q21 SDHC (confirmed) Succinate dehydrogenase complex, subunit C, integral membrane protein, (OMIM ID: 602413) 1q21 SHC1 (confirmed) SHC (Src homology 2 domain-containing) transforming protein-1 (OMIM ID: 600560) 1q21 SPTA1 (confirmed) Spectrin, alpha, erythrocytic-1 (OMIM ID: 182860) 1q21 TCFL1, YL1 (provisional) Transcription factor-like 1 (OMIM ID: 600607) 1q21 THBS3, TSP3 (tentative) Thrombospondin 3 (OMIM ID: 188062) 1q21 TUFT1 (confirmed) Tuftelin 1 (OMIM ID: 600087) 1q21-q22 EFNA1, EPLG1, TNFAIP4 (provisional) eph-related receptor tyrosine kinase ligand 1 (tumor necrosis factor, (OMIM ID: 191164) 1q21-q22 EFNA3, EPLG3 (provisional) eph-related receptor tyrosine kinase ligand 3 (ephrin A3) (OMIM ID: 601381) 1q21-q22 EFNA4, EPLG4 (provisional) eph-related receptor tyrosine kinase ligand 4 (ephrin-A4) (OMIM ID: 601380) 1q21-q22 FY, GPD (confirmed) Duffy blood group (OMIM ID: 110700) 1q21-q22 NPR1, ANPRA (provisional) Natriuretic peptide receptor A/guanylate cyclase A (OMIM ID: 108960) 1q21-q22 NTRK1, TRKA (confirmed) Neurotrophic tyrosine kinase, receptor, type 1 (OMIM ID: 191315) 1q21-q22 SPRR1A (provisional) Small proline-rich protein 1A (OMIM ID: 182265) 1q21-q22 SPRR1B (provisional) Small proline-rich protein 1B (OMIM ID: 182266) 1q21-q22 SPRR2A (provisional) Small proline-rich protein 2A (OMIM ID: 182267) 1q21-q22 SPRR2B (provisional) Small proline-rich protein 2B (OMIM ID: 182268) 1q21-q22 SPRR2C (provisional) Small proline-rich protein 2C (OMIM ID: 182269) 1q21-q22 SPRR3 (provisional) Small proline-rich protein 3 (OMIM ID: 182271) 1q21-q22 UGP1 (confirmed) Uridyl diphosphate glucose pyrophosphorylase-1 (OMIM ID: 191750) 1q21-q23 APCS, SAP (confirmed) Amyloid P component, serum (OMIM ID: 104770) 1q21-q23 APOA2 (confirmed) Apolipoprotein A-II (OMIM ID: 107670) 1q21-q23 ATP1A2 (confirmed) ATPase, Na+K+ transporting, alpha-2 polypeptide (OMIM ID: 182340) 1q21-q23 CD1A (confirmed) Thymocyte antigen CD1A (OMIM ID: 188370) 1q21-q23 CD1B (confirmed) Thymocyte antigen CD1B (OMIM ID: 188360) 1q21-q23 CD1C (confirmed) Thymocyte antigen CD1C (OMIM ID: 188340) 1q21-q23 CD1D (confirmed) Thymocyte antigen CD1D (OMIM ID: 188410) 1q21-q23 CD1E (confirmed) Thymocyte antigen CD1E (OMIM ID: 188411) 1q21-q23 CD5L (provisional) CD5 antigen-like (scavenger receptor cysteine rich family) (OMIM ID: 602592) 1q21-q23 CRP (confirmed) C-reactive protein (OMIM ID: 123260) 1q21-q23 DFNA7 (provisional) Deafness, autosomal dominant 7 (OMIM ID: 601412) 1q21-q23 ETV3, PE1 (provisional) ets variant gene 3 (OMIM ID: 164873) 1q21-q23 FCGR2A, IGFR2, CD32 (confirmed) Fc fragment of IgG, low affinity IIa, receptor for (CD32) (OMIM ID: 146790) 1q21-q23 GIRK3 (provisional) G protein-coupled inward rectifier potassium channel (OMIM ID: 600932) 1q21-q23 H2B (provisional) H2B histone (OMIM ID: 601831) 1q21-q23 HYPLIP1 (provisional) Hyperlipidemia, familial combined, 1 (OMIM ID: 602491) 1q21-q23 MHP2 (provisional) Migraine, familial hemiplegic, 2 (OMIM ID: 602481) 1q21-q23 SSR2 (provisional) Signal sequence receptor, beta (OMIM ID: 600867) 1q21-q24 LDP1, LFP, FPL (confirmed) Lipodystrophy, familial partial (OMIM ID: 151660) 1q21-q25 LTN (provisional) Lymphotactin (OMIM ID: 600250) 1q21-q32 HRPT2 (confirmed) Hyperparathyroidism 2 (with jaw tumor) (OMIM ID: 145001) 1q21.1 GJA5, CX40 (confirmed) Gap junction protein, alpha-5, 40kD (connexin 40) (OMIM ID: 121013) 1q21.1 GJA8, CX50, CAE1 (confirmed) Gap junction membrane channel protein alpha-8 (connexin 50) (OMIM ID: 600897) 1q21.1 PEA15, HMAT1, PED (confirmed) Phosphoprotein enriched in astrocytes, 15kD (OMIM ID: 603434) 1q21.1-q21.2 ADAR, DRADA (confirmed) Adenosine deaminase, RNA-specific (OMIM ID: 601059) 1q21.1-q21.3 PIK4CB (provisional) Phosphatidylinositol 4-kinase, catalytic, beta polypeptide (OMIM ID: 602758) 1q21.1-q21.3 RFX5 (confirmed) Regulatory factor X, 5 (influences HLA class II expression) (OMIM ID: 601863) 1q21.2-q21.3 FCGR1A, IGFR1, CD64 (confirmed) Fc fragment of IgG, high affinity Ia, receptor for (CD64) (OMIM ID: 146760) 1q21.2-q21.3 LMNA, LMN1, EMD2 (confirmed) Lamin A/C (OMIM ID: 150330) 1q21.2-q22 HSPCAL1 (provisional) Heat-shock 90kD protein, alpha-like-1 (OMIM ID: 140571) 1q21.3 CRABP2, RBP6 (confirmed) Cellular retinoic acid-binding protein-2 (OMIM ID: 180231) 1q21.3 THH, THL (confirmed) Trichohyalin (OMIM ID: 190370) 1q21.3-q22 CD48, BCM1, BLAST1 (confirmed) CD48 antigen (B-cell membrane protein) (OMIM ID: 109530) 1q21.3-q22 LY9 (provisional) T-lymphocyte surface antigen Ly-9 (OMIM ID: 600684) 1q22 IFI16 (confirmed) Interferon, gamma-inducible protein 16 (OMIM ID: 147586) 1q22 MNDA (provisional) Myeloid cell nuclear differentiation antigen (OMIM ID: 159553) 1q22 MPZ, CMT1B (confirmed) Myelin protein zero (OMIM ID: 159440) 1q22 NHLH1, HEN1 (provisional) Nescient helix loop helix 1 (OMIM ID: 162360) 1q22 PPOX (provisional) Protoporphyrinogen oxidase (OMIM ID: 600923) 1q22 PXF, HK33, D1S2223E (confirmed) Peroxisomal farnesylated protein (OMIM ID: 600279) 1q22-q23 ALDH9, E3 (provisional) Aldehyde dehydrogenase 9 (OMIM ID: 602733) 1q22-q23 CD3Z, TCRZ (confirmed) CD3Z antigen, zeta polypeptide (TiT3 complex) (OMIM ID: 186780) 1q22-q23 LMX1A, LMX1 (provisional) LIM homeo box transcription factor-1, alpha (OMIM ID: 600298) 1q22-q23 OTF1, OCT1 (confirmed) Octamer-binding transcription factor-1 (OMIM ID: 164175) 1q22-q23 RXRG (provisional) Retinoid X receptor, gamma (OMIM ID: 180247) 1q22-q23 TPM3, NEM1 (confirmed) Tropomyosin 3, nonmuscle (OMIM ID: 191030) 1q22-q23 USF1 (provisional) Upstream stimulatory factor-1 (OMIM ID: 191523) 1q22-q24 SKI (provisional) Avian sarcoma viral (v-ski) oncogene homolog (OMIM ID: 164780) 1q22-q25 ATP1B1 (confirmed) ATPase, Na+K+ transporting, beta-1 polypeptide (OMIM ID: 182330) 1q23 D1S61, D1S111, MS336 (provisional) Minisatellite 33.6 (OMIM ID: 157560) 1q23 CCT3, TRIC5 (provisional) Chaperonin-containing TCP1, subunit 3, gamma (OMIM ID: 600114) 1q23 F5 (confirmed) Coagulation factor V (proaccelerin, labile factor) (OMIM ID: 227400) 1q23 FCER1A (confirmed) Fc IgE receptor, alpha polypeptide (OMIM ID: 147140) 1q23 FCER1G (provisional) Fc fragment of IgE, high affinity I, receptor for, gamma polypeptide (OMIM ID: 147139) 1q23 FCGR3A, CD16, IGFR3 (confirmed) Fc fragment of IgG, low affinity III, receptor for (CD16) (OMIM ID: 146740) 1q23 RGS5 (provisional) Regulator of G protein signaling-5 (OMIM ID: 603276) 1q23 NDUFS2 (provisional) NADH-ubiquinone oxidoreductase Fe-S protein 2 (OMIM ID: 602985) 1q23 PBX1 (confirmed) Pre-B cell leukemia transcription factor-1 (OMIM ID: 176310) 1q23 TNFSF6, APT1LG1, FASL (confirmed) Tumor necrosis factor ligand superfamily, member 6 (OMIM ID: 134638) 1q23 TNFSF18, AITRL, GITRL (provisional) Tumor necrosis factor ligand superfamily, member 18 (OMIM ID: 603898) 1q23-q24 TRK (confirmed) Oncogene TRK (OMIM ID: 164970) 1q23-q25 AT3 (confirmed) Antithrombin III (OMIM ID: 107300) 1q23-q25 FMO1 (provisional) Flavin-containing monooxygenase 1 (fetal liver) (OMIM ID: 136130) 1q23-q25 FMO2 (provisional) Flavin-containing monooxygenase 2 (adult liver) (OMIM ID: 136131) 1q23-q25 FMO3 (provisional) Flavin-containing monooxygenase-3 (OMIM ID: 136132) 1q23-q25 PIGC, GPI2 (confirmed) Phosphatidylinositol glycan, class C (OMIM ID: 601730) 1q23-q25 SELE, ELAM1 (confirmed) Selectin E (endothelial leukocyte adhesion molecule-1) (OMIM ID: 131210) 1q23-q25 SELL, LYAM1, LAM1, LNHR (confirmed) Selectin L (lymphocyte adhesion molecule 1) (OMIM ID: 153240) 1q23-q25 SELP, GRMP (confirmed) Selectin P (granulocyte membrane protein, 140kD; antigen CD62) (OMIM ID: 173610) 1q24 TNR (confirmed) Tenascin R (restrictin, janusin) (OMIM ID: 601995) 1q24-q25 ABL2, ABLL, ARG (provisional) Abelson murine leukemia viral (v-abl) oncogene homolog 2 (arg, (OMIM ID: 164690) 1q24-q25 PRCA1, HPC1 (confirmed) Prostate cancer, hereditary, 1 (OMIM ID: 601518) 1q24-q31 FDPSL1, CHR39A (provisional) Farnesyl diphosphate synthase-like 1 (farnesyl pyrophosphate (OMIM ID: 134631) 1q24.3-q25.2 MYOC, TIGR, GLC1A, JOAG, GPOA (confirmed) Myocilin (trabecular meshwork-induced glucocorticoid response protein) (OMIM ID: 601652) 1q25 ASTN (provisional) Astrotactin (OMIM ID: 600904) 1q25 DDX9, NDHII DEAD/H box-9 (nuclear DNA helicase II; RNA helicase A) (OMIM ID: 603115) 1q25 NCF2 (confirmed) Neutrophil cytosolic factor-2 (65kD) (OMIM ID: 233710) 1q25 PLA2G4A, PLA2G4 (provisional) Phospholipase A2, group IVA, cytosolic (OMIM ID: 600522) 1q25 RNASEL, RNS4 (provisional) Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (OMIM ID: 180435) 1q25 SOAT, STAT, ACAT (provisional) Sterol O-acyltransferase (acyl-Coenzyme A: cholesterol (OMIM ID: 102642) 1q25 TNFSF4, GP34, OX4OL (provisional) Tumor necrosis factor ligand superfamily, member 4 (OMIM ID: 603594) 1q25 TPR (confirmed) Tumor potentiating region (translocated promoter region) (OMIM ID: 189940) 1q25-q31 ARMD1 (provisional) Macular degeneration, age-related, 1 (OMIM ID: 603075) 1q25-q31 BGLAP (provisional) Bone gamma-carboxyglutamic acid protein (OMIM ID: 112260) 1q25-q31 CACNA1E, CACNL1A6 (provisional) Calcium channel, voltage-dependent, alpha 1E subunit (OMIM ID: 601013) 1q25-q31 CACP, JCAP (provisional) Jacobs camptodactyly-arthropathy-pericarditis syndrome (OMIM ID: 208250) 1q25-q31 LAMC2, LAMNB2, LAMB2T (confirmed) Laminin, gamma-2 (nicein (100kD), (kalinin (105kD), BM600 (100kD)) (OMIM ID: 150292) 1q25-q31 RGS16 (provisional) Regulator of G protein signaling-16 (OMIM ID: 602514) 1q25-q31 SRN1 (provisional) Nephrotic syndrome, idiopathic, steroid-resistant (OMIM ID: 600995) 1q25-q31.1 PDC (confirmed) Phosducin, pineal gland (OMIM ID: 171490) 1q25-q32 ATP2B4, ATP2B2, PMCA4 (provisional) ATPase, Ca++ transporting, plasma membrane, 4 (OMIM ID: 108732) 1q25.1-q32.3 LAD1 (tentative) Ladinin (OMIM ID: 602314) 1q25.2-q25.3 PTGS2 (provisional) Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and (OMIM ID: 600262) 1q25.3 HLALS, MR1 (provisional) Major histocompatibility complex, class I-like sequence (OMIM ID: 600764) 1q31 CTSE (confirmed) Cathepsin E (OMIM ID: 116890) 1q31 EBR2A (provisional) Epidermolysis bullosa 2A, junctional Herlitz (OMIM ID: 226450) 1q31 GLCT2 (provisional) Beta-3-galactosyltransferase 2 (OMIM ID: 603018) 1q31 GLUL, GLNS (confirmed) Glutamate-ammonia ligase (glutamine synthase) (OMIM ID: 138290) 1q31 RGS2, G0S8 (provisional) G0 to G1 switch regulatory 8, 24kD (OMIM ID: 600861) 1q31 LAMC1, LAMB2 (confirmed) Laminin, gamma-1 (formerly LAMB2) (OMIM ID: 150290) 1q31 PFKFB2 (provisional) Fructose-2,6-bisphosphatase, cardiac isozyme (OMIM ID: 171835) 1q31 RGS1, IER1, IR20 (provisional) Regulator of G-protein signaling 1 (OMIM ID: 600323) 1q31 SSA2 (confirmed) Sjogren syndrome antigen A2 (60kD, ribonucleoprotein autoantigen (OMIM ID: 600063) 1q31-q32 CHIT (confirmed) Chitotriosidase (OMIM ID: 600031) 1q31-q32 IL10 (confirmed) Interleukin-10 (OMIM ID: 124092) 1q31-q32 LGTN (tentative) Ligatin (OMIM ID: 151625) 1q31-q32 PCTK3 (provisional) PCTAIRE protein kinase 3 (OMIM ID: 169190) 1q31-q32 PTPRC, CD45, LCA (confirmed) Protein tyrosine phosphatase, receptor type, c polypeptide (OMIM ID: 151460) 1q31-q32.1 F13B (confirmed) Coagulation factor XIII, B polypeptide (OMIM ID: 134580) 1q31-q32.1 FHR2 (provisional) Factor H-related gene 2 (OMIM ID: 600889) 1q31-q32.1 RP12 (provisional) Retinitis pigmentosa-12 (autosomal recessive) (OMIM ID: 600105) 1q31-q41 MYOG, MYF4 (confirmed) Myogenic factor-4; myogenin (OMIM ID: 159980) 1q31-q42 PHA2A, PHA2 (provisional) Pseudohypoaldosteronism type II (gene A) (OMIM ID: 145260) 1q31-q42 PIGR (confirmed) Polymeric immunoglobulin receptor (OMIM ID: 173880) 1q31-q42 PSEN2, AD4, STM2 (provisional) Presenilin 2 (OMIM ID: 600759) 1q31.3 TNNI1 (confirmed) Troponin-I, skeletal, slow (OMIM ID: 191042) 1q32 AVPR1B, AVPR3 (provisional) Arginine vasopressin receptor-1B (OMIM ID: 600264) 1q32 BTG2, PC3 (provisional) B-cell translocation gene 2 (pheochromacytoma cell-3) (OMIM ID: 601597) 1q32 RCAC@ (confirmed) REGULATOR OF COMPLEMENT ACTIVATION CLUSTER (OMIM ID: ) 1q32 C4BPA (confirmed) Complement component 4-binding protein, alpha polypeptide (OMIM ID: 120830) 1q32 C4BPB (provisional) Complement component 4-binding protein, beta polypeptide (OMIM ID: 120831) 1q32 CACNA1S, CACNL1A3, CCHL1A3 (confirmed) Calcium channel, voltage-dependent, L type, alpha 1S subunit (OMIM ID: 114208) 1q32 CD34 (confirmed) CD34 antigen (OMIM ID: 142230) 1q32 CMD1D, CMPD2 (provisional) Cardiomyopathy, dilated-1D, autosomal dominant (OMIM ID: 601494) 1q32 CR1, C3BR (confirmed) Complement component (3b/4b) receptor-1 (OMIM ID: 120620) 1q32 CR2, C3DR (confirmed) Complement component (3d/Epstein-Barr virus) receptor-2 (OMIM ID: 120650) 1q32 CSRP1, CSRP (confirmed) Cysteine and glycine-rich protein-1 (OMIM ID: 123876) 1q32 DAF (confirmed) Decay-accelerating factor of complement (OMIM ID: 125240) 1q32 DYRK3 (provisional) Dual-specificity tyrosine phosphorylation-regulated kinase 3 (OMIM ID: 603497) 1q32 ELF3, ESX (provisional) E74-like factor 3 (ETS domain transcription factor, serine box, (OMIM ID: 602191) 1q32 ELK4, SAP1 (provisional) ELK4, ETS-domain protein (SRF accessory protein 1) (OMIM ID: 600246) 1q32 GFND (provisional) Glomerulopathy with fibronectin deposits (OMIM ID: 601894) 1q32 HF1, CFH, HUS (confirmed) H factor-1 (complement) (OMIM ID: 134370) 1q32 KISS1 (confirmed) KISS1 metastasis suppressor (OMIM ID: 603286) 1q32 LAMB3 (provisional) Laminin, beta-3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) (OMIM ID: 150310) 1q32 MCP, CD46 (confirmed) Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive (OMIM ID: 120920) 1q32 MDM4 (provisional) Mouse double minute 4, homolog of (OMIM ID: 602704) 1q32 PIK3C2B (provisional) Phosphatidylinositol 3-kinase, class 2, beta polypeptide (OMIM ID: 602838) 1q32 PRELP (provisional) Proline arginine-rich end leucine-rich repeat protein (OMIM ID: 601914) 1q32 PTPN14 (provisional) Protein tyrosine phosphatase, non-receptor type 14 (OMIM ID: 603155) 1q32 RBBP5, RBQ3 (provisional) Retinoblastoma-binding protein-5 (OMIM ID: 600697) 1q32 REN (confirmed) Renin (OMIM ID: 179820) 1q32 SNRPE (confirmed) Small nuclear ribonucleoprotein polypeptide E (OMIM ID: 128260) 1q32 TNNT2, CMH2 (confirmed) Troponin-T2, cardiac (OMIM ID: 191045) 1q32 TRAF5 (provisional) TNF receptor-associated factor 5 (OMIM ID: 602356) 1q32 VWS, LPS, PIT (confirmed) van der Woude syndrome (lip pit syndrome) (OMIM ID: 119300) 1q32-q41 CENPF (provisional) Centromere autoantigen F (400kD) (OMIM ID: 600236) 1q32-q41 KCNH1, EAG (provisional) Potassium channel, voltage-gated, subfamily H, member 1 (OMIM ID: 603305) 1q32-q41 RABIF, RASGFR3, MSS4 (provisional) Rab-interacting factor (Ras-specific guanine-releasing factor-3; (OMIM ID: 603417) 1q32-q44 PKP1 (provisional) Plakophilin-1 (OMIM ID: 601975) 1q32.1 ADORA1, RDC7 (provisional) Adenosine A1 receptor (OMIM ID: 102775) 1q32.1 FMOD (provisional) Fibromodulin (OMIM ID: 600245) 1q32.1 GPR25 (provisional) G protein-coupled receptor-25 (OMIM ID: 602174) 1q32.1 MYBPH (confirmed) Myosin-binding protein H (OMIM ID: 160795) 1q32.1 MYPT2 (provisional) Myosin phosphatase target subunit 2 (OMIM ID: 603768) 1q32.1 PTPN7 (provisional) Protein tyrosine phosphatase, non-receptor type 7 (OMIM ID: 176889) 1q32.1 TAX, TAX1 (confirmed) Transiently-expressed axonal glycoprotein (OMIM ID: 190197) 1q32.1-q32.2 RNPEP (provisional) Arginyl aminopeptidase (aminopeptidase B) (OMIM ID: 602675) 1q32.1-q42 GUK1 (confirmed) Guanylate kinase-1 (OMIM ID: 139270) 1q32.1-q42 GUK2 (confirmed) Guanylate kinase-2 (OMIM ID: 139280) 1q32.2-q32.3 PROX1 (provisional) Prospero-related homeo box 1 (OMIM ID: 601546) 1q32.2-q41 PTPN14, PEZ (confirmed) Protein-tyrosine phosphatase, nonreceptor-type, 14 (OMIM ID: 603155) 1q41 ESRRG (provisional) Estrogen-related receptor, gamma (OMIM ID: 602969) 1q41 KCNK2, TREK (provisional) Potassium channel, subfamily K, member 2 (OMIM ID: 603219) 1q41 PPP2R5A (provisional) Protein phosphatase-2, regulatory subunit B (B56), alpha isoform (OMIM ID: 601643) 1q41 RMD1 (confirmed) Rippling muscle disease 1 (OMIM ID: 600332) 1q41 TGFB2 (confirmed) Transforming growth factor, beta-2 (OMIM ID: 190220) 1q41 USH2A (confirmed) Usher syndrome-2A, autosomal recessive, mild (OMIM ID: 276901) 1q41-q42 EPRS, QPRS, QARS (confirmed) Glutamyl-prolyl-tRNA synthetase (OMIM ID: 138295) 1q41-q42 GALNT2 (provisional) UDP-N-acetyl-alpha-D-galactosamine:polypeptide (OMIM ID: 602274) 1q41-q42 PK428 (provisional) Protein kinase, serine/threonine, related to the myotonic dystrophy (OMIM ID: 603412) 1q41-q42 SLEB1, SLE1 (provisional) Systemic lupus erythematosus, susceptibility to, 1 (OMIM ID: 601744) 1q41-q42 TLR5, TIL3 (confirmed) Toll-like receptor-5 (OMIM ID: 603031) 1q41-q42.1 HLX1 (confirmed) H2.0 (Drosophilia)-like homeo box-1 (OMIM ID: 142995) 1q41-q42.2 NVL (confirmed) Nuclear valosin-containing protein-like (OMIM ID: 602426) 1q41-q43 ITPKB (provisional) Inositol 1,4,5-trisphosphate 3-kinase B (OMIM ID: 147522) 1q41-q44 CHRM3 (provisional) Cholinergic receptor, muscarinic, 3 (OMIM ID: 118494) 1q42 ADPRT, PPOL (confirmed) ADP-ribosyltransferase NAD(+) (OMIM ID: 173870) 1q42 ARF1 (provisional) ADP-ribosylation factor-1 (OMIM ID: 103180) 1q42 H3FT, H3T (provisional) H3 histone family, member T (OMIM ID: 602820) 1q42 HRES1 (provisional) HTLV-1 related endogenous sequence (OMIM ID: 143025) 1q42 PEPC (confirmed) Peptidase C (OMIM ID: 170000) 1q42 UBE2G (provisional) Ubiquitin-conjugating enzyme E2G (UBC7, C. elegans, human homolog of) (OMIM ID: 601569) 1q42-q43 A12M1 (provisional) Adenovirus-12 chromosome modification site-1q1 (OMIM ID: 102930) 1q42-q43 ACTN2 (provisional) Actinin, alpha-2 (OMIM ID: 102573) 1q42-q43 AGT (confirmed) Angiotensinogen (OMIM ID: 106150) 1q42-q43 ARVD2 (provisional) Arrhythmogenic right ventricular dysplasia-2 (arrhythmogenic right (OMIM ID: 600996) 1q42-q43 HRD (provisional) Hypoparathyroidism-retardation-dysmorphism syndrome (Sanjad-Sakati (OMIM ID: 241410) 1q42-q43 KCNK1, TWIK1 (provisional) Potassium channel, subfamily K, member 1 (OMIM ID: 601745) 1q42-q43 RAB4 (provisional) Oncogene RAB4 (OMIM ID: 179511) 1q42-qter CHML (confirmed) Choroideremia-like (OMIM ID: 118825) 1q42.1 ACTA1, ASMA (confirmed) Actin, alpha-1, skeletal muscle (OMIM ID: 102610) 1q42.1 FH (confirmed) Fumarate hydratase (OMIM ID: 136850) 1q42.1 LBR (provisional) Lamin B receptor (OMIM ID: 600024) 1q42.1 TGFB4, EBAF, LEFTY1 (confirmed) Transforming growth factor, beta-4 (endometrial bleeding-associated (OMIM ID: 601877) 1q42.1 LEFTY2 (provisional) Left-right determination, factor B (OMIM ID: 603037) 1q42.1 TP53BP2 (provisional) Tumor protein p53-binding protein-2 (OMIM ID: 602143) 1q42.1-q43 RYR2 (confirmed) Ryanodine receptor-2 (cardiac) (OMIM ID: 180902) 1q42.11-q42.13 RN5S1@ (confirmed) RNA, 5S cluster 1 (OMIM ID: 180420) 1q42.1-q42.2 CHS1, LYST (confirmed) Lysosomal trafficking regulator (OMIM ID: 214500) 1q42.2-q43 PCAP, PRCA2, HPC2 (provisional) Prostate cancer, hereditary, 2 (OMIM ID: 602759) 1q43 MTR (confirmed) 5-methyltetrahydrofolate-homocysteine methyltransferase 1 (OMIM ID: 156570) 1q43 NID (provisional) Nidogen (OMIM ID: 131390) 1q44 ZNF124 (provisional) Zinc finger protein-124 (HZF-16) (OMIM ID: 194631) C Chr.1 ADAMTS4 (provisional) A disintegrin-like and metalloproteinase with thrombospondin type (OMIM ID: 603876) Chr.1 CAPN2 (provisional) Calpain, large polypeptide L2 (OMIM ID: 114230) Chr.1 CHI3L1, GP39, YKL40 (provisional) Chitinase 3-like 1 (cartilage glycoprotein-39) (OMIM ID: 601525) Chr.1 CYMP (provisional) Chymosin pseudogene (OMIM ID: 118943) Chr.1 CYP4A11 (provisional) Cytochrome P450, subfamily IVA, polypeptide 11 (OMIM ID: 601310) Chr.1 EPHA8, EEK, HEK3 (provisional) Ephrin receptor EphA8 (eph- and elk-related kinase) (OMIM ID: 176945) Chr.1 G1P2 (provisional) Interferon, alpha-inducible protein (clone IFI-15K) (OMIM ID: 147571) Chr.1 GBP1 (provisional) Guanylate binding protein 1, interferon-inducible, 67kD (OMIM ID: 600411) Chr.1 HPCA (provisional) Hippocalcin, 23kD, Ca2+-binding protein (OMIM ID: 142622) Chr.1 HSD11B1, HSD11, HSD11L (provisional) Hydroxysteroid, 11-beta, dehydrogenase 1 (OMIM ID: 600713) Chr.1 IFI4, G1P1 (provisional) Interferon-induced protein 4 (OMIM ID: 146920) Chr.1 INSRR, IRR (provisional) Insulin receptor-related receptor (OMIM ID: 147671) Chr.1 MIC10 (provisional) Antigen identified by monoclonal antibody TRA-2-10 (OMIM ID: 116954) Chr.1 PLXN2, OCT (provisional) Plexin 2 (OCT transmembrane protein) (OMIM ID: 601054) Chr.1 PPP1R8, NIPP1, ARD1 (provisional) Protein phosphatase-1, regulatory subunit-8 (OMIM ID: 602636) Chr.1 RPS27, MPS1 (provisional) Ribosomal protein S27 (OMIM ID: 603702) Chr.1 WNT14 (provisional) Wingless-type MMTV integration site family, member 14 (OMIM ID: 602863) 2 2pter-p12 ARHB, ARH6, RHOH6 (provisional) RAS homolog gene family, member B (oncogene RHO H6) (OMIM ID: 165370) 2p25.3 D2S448, MG50, D2S448E (provisional) Melanoma associated gene (OMIM ID: 600134) 2p25.2-p25.1 YWHAZ (provisional) Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation (OMIM ID: 601288) 2p25 ACP1 (confirmed) Acid phosphatase 1, soluble (OMIM ID: 171500) 2p25 ID2 (provisional) Inhibitor of DNA binding 2, dominant negative (OMIM ID: 600386) 2p25 KCNF1, KH1 (provisional) Potassium voltage-gated channel, subfamily F, member 1 (OMIM ID: 603787) 2p25 ODC1 (confirmed) Ornithine decarboxylase-1 (OMIM ID: 165640) 2p25 RPS7 (confirmed) Ribosomal protein S7 (OMIM ID: 603658) 2p25 SOX11 (provisional) SRY (sex-determining region Y)-box 11 (OMIM ID: 600898) 2p25 TPO, TPX (confirmed) Thyroid peroxidase (OMIM ID: 274500) 2p25-p24 RRM2 (provisional) Ribonucleotide reductase, M2 polypeptide (OMIM ID: 180390) 2p25-p22 ETM2 (confirmed) Tremor, familial essential, 2 (OMIM ID: 602134) 2p24.1 MYCN, NMYC (confirmed) Oncogene NMYC (OMIM ID: 164840) 2p24.1 SDC1 (confirmed) Syndecan 1 (OMIM ID: 186355) 2p24 APOB (confirmed) Apolipoprotein B (including Ag(x) antigen) (OMIM ID: 107730) 2p24 DDX1 (provisional) DEAD/H box-1 (OMIM ID: 601257) 2p24 KCNS3, KV9.3 (provisional) Potassium channel, voltage-gated, delayed-rectifier, subfamily S, (OMIM ID: 603888) 2p24-p23 MATN3 (confirmed) Matrilin 3 (OMIM ID: 602109) 2p24-p22 ADCY3 (confirmed) Adenylate cyclase-3 (OMIM ID: 600291) 2p24-p21 CENPA (confirmed) Centromere protein A (17kD) (OMIM ID: 117139) 2p24-p21 SPG4 (confirmed) Spastic paraplegia-4 (autosomal dominant) (OMIM ID: 182601) 2p23.3 POMC (confirmed) Proopiomelanocortin (adrenocorticotropin/beta-lipotropin) (OMIM ID: 176830) 2p23.3-p23.2 GCKR (confirmed) Glucokinase (hexokinase 4) regulatory protein (OMIM ID: 600842) 2p23.3-p23.2 KHK (provisional) Ketohexokinase (fructokinase) (OMIM ID: 229800) 2p23 ALK (confirmed) Anaplastic lymphoma kinase (Ki-1) (OMIM ID: 105590) 2p23 HADHA, MTPA (confirmed) Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/ (OMIM ID: 600890) 2p23 HADHB (confirmed) Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase (OMIM ID: 143450) 2p23 KCNK3, TASK (provisional) Potassium channel, subfamily K, member 3 (OMIM ID: 603220) 2p23 KIF3C (provisional) Kinesin family member 3C (OMIM ID: 602845) 2p23 PPP1CB (provisional) Protein phosphatase-1, catalytic subunit, beta isoform (OMIM ID: 600590) 2p23 SRC1 (provisional) Steroid receptor coactivator-1 (OMIM ID: 602691) 2p23 SRD5A2 (confirmed) Steroid-5-alpha-reductase, alpha polypeptide-2 (3-oxo-5 alpha-steroid (OMIM ID: 264600) 2p23-p22 FOSL2 (provisional) FOS-like antigen-2 (OMIM ID: 601575) 2p23-p22 OTOF, DFNB9, NSRD9 (confirmed) Otoferlin (OMIM ID: 603681) 2p23-p22 SLC8A1, NCX1 (confirmed) Solute carrier family 8, member 1 (sodium-calcium exchanger-1) (OMIM ID: 182305) 2p23-p22 XDH (confirmed) Xanthine dehydrogenase (xanthine oxidase) (OMIM ID: 278300) 2p23-p21 MPV17 (provisional) Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome (OMIM ID: 137960) 2p22-p21 CYP1B1, GLC3A (confirmed) Cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 (OMIM ID: 601771) 2p22-p21 MSH2, COCA1, FCC1 (confirmed) mutS (E. coli) homolog 2 (OMIM ID: 120435) 2p22-p21 SFRS7 (provisional) Splicing factor, arginine/serine-rich 7 (35kD) (OMIM ID: 600572) 2p22-p21 SOS1 (provisional) Son of sevenless (Drosophila) homolog 1 (OMIM ID: 182530) 2p22-p16 HTLF (provisional) Human T-cell leukemia virus enhancer factor (OMIM ID: 143089) 2p22-p11 GLAT (provisional) Galactose enzyme activator (OMIM ID: 137030) 2p21.3-p21.1 CALM2 (provisional) Calmodulin-2 (OMIM ID: 114182) 2p21 CAD (provisional) CAD trifunctional protein of pyrimidine biosynthesis (OMIM ID: 114010) 2p21 GF1, HGF (provisional) Gingival fibromatosis, hereditary, 1 (OMIM ID: 135300) 2p21 LHCGR (provisional) Luteinizing hormone/choriogonadotropin receptor (OMIM ID: 152790) 2p21 LSL (provisional) Leptin, serum levels of (OMIM ID: 601694) 2p21 PRKCE, PKCE (provisional) Protein kinase C, epsilon (OMIM ID: 176975) 2p21 PRKR (confirmed) Protein kinase, interferon-inducible double stranded RNA dependent (OMIM ID: 176871) 2p21 SIX3, HPE2 (confirmed) Sine oculis homeo box, drosophila, homolog of, 3 (OMIM ID: 603714) 2p21 SPTBN1 (provisional) Spectrin, beta, nonerythrocytic-1 (beta-fodrin) (OMIM ID: 182790) 2p21 STSL (provisional) Sitosterolemia (OMIM ID: 210250) 2p21-p16 EPAS1, MOP2, HIF2A (provisional) Endothelial PAS domain protein 1 (OMIM ID: 603349) 2p21-p16 FSHR, ODG1 (confirmed) Follicle stimulating hormone receptor (OMIM ID: 136435) 2p21-p16 PIGF (provisional) Phosphatidylinositol glycan, class F (OMIM ID: 600153) 2p16.3 SLC3A1, ATR1, D2H, NBAT (confirmed) Solute carrier family 3 (cystine, dibasic and neutral amino acid (OMIM ID: 104614) 2p16 CNC (provisional) Carney complex (OMIM ID: 160980) 2p16 EFEMP1, FBNL, DHRD (provisional) EGF-containing fibulin-like extracellular matrix protein 1 (OMIM ID: 601548) 2p16 GTBP, MSH6 (provisional) G/T mismatch-binding protein (OMIM ID: 600678) 2p16 MDH1 (confirmed) Malate dehydrogenase, soluble (OMIM ID: 154200) 2p16 XPO1, CRM1 (provisional) Exportin-1 (required for chromosome region maintenance) (OMIM ID: 602559) 2p16-p15 PPP3R1, CALNB1 (provisional) Protein phosphatase-3 (formerly 2B), regulatory subunit B (19kD), (OMIM ID: 601302) 2p16-p15 VRK2 (provisional) Vaccinia-related kinase-2 (OMIM ID: 602169) 2p16-p14 MTIF2 (provisional) Mitochondrial translational initiation factor 2 (OMIM ID: 603766) 2p15 PEX13, ZWS, NALD (provisional) Peroxisome biogenesis factor 13 (peroxin 13) (OMIM ID: 601789) 2p15-p13 SLC1A4, SATT, ASCT1 (provisional) Solute carrier family 1 (glutamate/neutral amino acid transporter), (OMIM ID: 600229) 2p15-cen CDK7, STK1, CAK1 (provisional) Cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating (OMIM ID: 601955) 2p14-p13.4 RAB1, RAB1A (provisional) RAB1, member RAS oncogene family (OMIM ID: 179508) 2p14-p13 ADD2 (confirmed) Adducin-2 (beta) (OMIM ID: 102681) 2p14-p13 ALMS1, ALSS (provisional) Alstrom syndrome (OMIM ID: 203800) 2p14-p13 EMX1 (provisional) Empty spiracles (Drosophila) homolog 1 (OMIM ID: 600034) 2p14-p13 MEIS1 (provisional) Meis1 (mouse) homolog (OMIM ID: 601739) 2p14-p13 UGP2, UGPP2 (confirmed) Uridyl diphosphate glucose pyrophosphorylase-2 (OMIM ID: 191760) 2p14-p12 SPR (provisional) Sepiapterin reductase (OMIM ID: 182125) 2p13.3-p13.1 DYSF, LGMD2B (confirmed) Dysferlin (OMIM ID: 603009) 2p13.1 ACTG2, ACTA3 (confirmed) Actin, gamma-2, smooth muscle, enteric (OMIM ID: 102545) 2p13 ANX4 (provisional) Annexin IV (placental anticoagulant protein II) (OMIM ID: 106491) 2p13 AUP1 (provisional) Ancient ubiquitous protein 1 (OMIM ID: 602434) 2p13 DCTN1 (confirmed) Dynactin 1 (p150, Glued (Drosophila) homolog) (OMIM ID: 601143) 2p13 DOK1 (provisional) Downstream of tyrosine kinase 1 (OMIM ID: 602919) 2p13 EGR4, NGFIC (provisional) Early growth response-4 (OMIM ID: 128992) 2p13 GFPT (confirmed) Glutamine-fructose-6-phosphate transaminase (OMIM ID: 138292) 2p13 MAD (provisional) MAD protein (MAX-binding protein) (OMIM ID: 600021) 2p13 OFC2 (provisional) Orofacial cleft-2 (OMIM ID: 602966) 2p13 OTX1 (provisional) Orthodenticle (Drosophila) homolog 1 (OMIM ID: 600036) 2p13 RTKN (provisional) Rhotekin (OMIM ID: 602288) 2p13 PARK3 (provisional) Parkinson disease, type 3 (OMIM ID: 602404) 2p13 SEMAW (provisional) Semaphorin W (OMIM ID: 603706) 2p13 TGFA (confirmed) Transforming growth factor, alpha (OMIM ID: 190170) 2p13 TIA1 (provisional) TIA1 cytotoxic granule-associated RNA-binding protein (OMIM ID: 603518) 2p13-p12 GCS1 (provisional) Glucosidase I (OMIM ID: 601336) 2p13-p12 PCBP1 (provisional) Poly(rC)-binding protein-1 (OMIM ID: 601209) 2p13-p12 REL (provisional) Oncogene REL, avian reticuloendotheliosis (OMIM ID: 164910) 2p12 CD8A (confirmed) CD8 antigen, alpha polypeptide (p32) (OMIM ID: 186910) 2p12 CD8B1, CD8B (confirmed) CD8 antigen, beta polypeptide 1 (p37) (OMIM ID: 186730) 2p12 GGCX (provisional) Gamma-glutamyl carboxylase (OMIM ID: 137167) 2p12 HK2 (provisional) Hexokinase-2, muscle (OMIM ID: 601125) 2p12 IGK@ (confirmed) IMMUNOGLOBULIN KAPPA LIGHT CHAIN GENE CLUSTER (OMIM ID: ) 2p12 IGKV (confirmed) Immunoglobulin kappa variable region (OMIM ID: 146980) 2p12 IGKJ (confirmed) Immunoglobulin kappa joining region (OMIM ID: 146970) 2p12 IGKC (confirmed) Immunoglobulin kappa constant region (OMIM ID: 147200) 2p12 IGKDEL (provisional) Immunoglobulin kappa polypeptide deleting element (OMIM ID: 146780) 2p12 PAP (confirmed) Pancreatitis-associated protein (OMIM ID: 167805) 2p12 REG1A, PSPS1, REG (confirmed) Regenerating islet-derived 1 alpha (pancreatic stone protein, (OMIM ID: 167770) 2p12 REGL, PSPS2 (provisional) Rat regenerating islet-derived-like, human homolog (pancreatic stone (OMIM ID: 167771) 2p12-p11.1 CTNNA2, CAPR, CTNR (provisional) Catenin, alpha-2 (cadherin-associated protein, related) (OMIM ID: 114025) 2p12-q11 D2S69E, TLA519 (provisional) T-lymphocyte activation gene 519 (OMIM ID: 188855) 2p12-p11.2 SFTPB, SFTB3 (confirmed) Pulmonary surfactant-associated protein B, 18kD (OMIM ID: 178640) 2p12-q22 LTBP1 (provisional) Latent transforming growth factor beta binding protein 1 (OMIM ID: 150390) 2p11.2 LIS2 (provisional) Lissencephaly gene 2 (OMIM ID: 600217) 2p11.2 MAT2A, MATA2, SAMS2 (provisional) Methionine adenosyltransferase II, alpha (OMIM ID: 601468) 2p11.2 TGN46, TGN38 (provisional) Trans-golgi network protein, 46-kD (OMIM ID: 603062) 2p11.2 ZFP103, KF1 (provisional) Zinc finger protein 103, mouse, homolog of (OMIM ID: 602507) 2p11.2-p11.1 TCF9 (provisional) Transcriptional factor-9 (binds GC-rich sequences) (OMIM ID: 189901) 2p11 FABP1 (confirmed) Fatty acid-binding protein, liver (OMIM ID: 134650) 2p11-q11 PLGL (provisional) Plasminogen-like (OMIM ID: 173340) 2p VSNL1 (provisional) Visinin-like 1 (OMIM ID: 600817) 2cen-q13 ATP6B1, VPP3 (confirmed) ATPase, H+ transporting, lysosomal, beta polypeptide, 58kD (vacuolar (OMIM ID: 192132) 2cen-q13 COX5B (provisional) Cytochrome c oxidase, subunit Vb (OMIM ID: 123866) 2cen-q13 GLC1B (provisional) Glaucoma 1, open angle, B (adult-onset) (OMIM ID: 137760) 2cen-q13 INHBB (provisional) Inhibin, beta-2 (OMIM ID: 147390) 2cen-q13 MAL (provisional) T-lymphocyte maturation-associated protein (OMIM ID: 188860) 2cen-q13 RALB (provisional) RAS-like protein B (OMIM ID: 179551) 2cen-q24 CAPG (provisional) Capping protein (actin filament), gelsolin-like (OMIM ID: 153615) 2q BARD1 (provisional) BRCA1-associated RING domain 1 (OMIM ID: 601593) 2q NIDDM1 (provisional) Non-insulin-dependent diabetes mellitus (common, type 2) (OMIM ID: 601283) 2q TUBA3 (provisional) Tubulin, alpha, brain-specific (OMIM ID: 602529) 2q11 CNGA3, CNG3, ACHM2 (provisional) Cyclic nucleotide-gated channel, alpha-3 (OMIM ID: 600053) 2q11 DUSP2, PAC1 (confirmed) Dual-specificity phosphatase-2 (OMIM ID: 603068) 2q11 TMD (provisional) Tibial muscular dystrophy (OMIM ID: 600334) 2q11-q12 RANBP2L1 (confirmed) RAN-binding protein 2-like 1 (OMIM ID: 602752) 2q11-q13 ED3, EDA3 (provisional) Ectodermal dysplasia-3, anhidrotic (OMIM ID: 129490) 2q11-q13 RANBP2, NUP358 (provisional) RAN-binding protein 2 (OMIM ID: 601181) 2q11-q14 SLC20A1, GLVR1 (provisional) Solute carrier family 20, phosphate transporter, member 1 (OMIM ID: 137570) 2q11.1-q11.2 SULT1C1 (provisional) Sulfotransferase 1C1 (OMIM ID: 602385) 2q11.2 BRRN1 (provisional) Barren, Drosophila, homolog of, 1 (OMIM ID: 602332) 2q11.2 SLC9A2 (confirmed) Solute carrier family 9 (sodium/hydrogen exchanger), isoform 2 (OMIM ID: 600530) 2q11.2-q12 LAF4 (provisional) Lymphoid nuclear protein related to AF4 (OMIM ID: 601464) 2q12 IL1R1, IL1RA (provisional) Interleukin-1 receptor, type I (OMIM ID: 147810) 2q12 ZAP70, SRK, STD (confirmed) Zeta-chain associated protein kinase, 70kD (syk-related tyrosine (OMIM ID: 176947) 2q12-q14 BUB1 (provisional) Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of (OMIM ID: 602452) 2q12-q14 FHL2, DRAL (provisional) Four and a half LIM domains-2 (Down-regulated in rhabdomyosarcoma (OMIM ID: 602633) 2q12-q14 IGO1 (provisional) Immunoglobulin orphon (transposed element) 1 (OMIM ID: 147185) 2q12-q14 PAX8 (confirmed) Paired box homeotic gene-8 (OMIM ID: 167415) 2q12-q21 DBI (inconsistent) Diazepam-binding inhibitor (OMIM ID: 125950) 2q12-q22 IL1R2, IL1RB (provisional) Interleukin-1 receptor, type II (OMIM ID: 147811) 2q12-qter NCL (provisional) Nucleolin (OMIM ID: 164035) 2q13 BENE (provisional) BENE protein (OMIM ID: 602222) 2q13 MALL (provisional) mal, T-cell differentiation protein-like (OMIM ID: 602022) 2q13 NPAS2, MOP4 (provisional) Neuronal PAS domain protein 2 (OMIM ID: 603347) 2q13 NPHP1, NPH1 (confirmed) Nephronophthisis-1 (juvenile) (OMIM ID: 256100) 2q13-q14 PROC (confirmed) Protein C (inactivator of coagulation factors Va and VIIIa) (OMIM ID: 176860) 2q13-q21 EN1 (confirmed) Engrailed-1 (OMIM ID: 131290) 2q14 AMPHL, BIN1 (provisional) Amphiphysin-like (box-dependent MYC-interacting protein-1) (OMIM ID: 601248) 2q14 GLI2 (confirmed) GLI-Kruppel family member GLI2 (oncogene GLI2) (OMIM ID: 165230) 2q14 IL1A (confirmed) Interleukin-1, alpha (OMIM ID: 147760) 2q14 IL1B (confirmed) Interleukin-1, beta (OMIM ID: 147720) 2q14-q21 GYPC, GE, GPC (provisional) Glycophorin C (Gerbich blood group) (OMIM ID: 110750) 2q14-q21 LCO (provisional) Liver cancer oncogene (OMIM ID: 165320) 2q14-q21 RAB6 (provisional) Oncogene RAB6 (OMIM ID: 179513) 2q14-q21 VIS1, HIS1 (provisional) Viral integration site 1 (OMIM ID: 164755) 2q14.1 SCTR (provisional) Secretin receptor (OMIM ID: 182098) 2q14.2 IL1RN (confirmed) Interleukin-1 receptor antagonist (OMIM ID: 147679) 2q21 D2S201E, NPY3R, CXCR4 (confirmed) Neuropeptide Y receptor Y3 (OMIM ID: 162643) 2q21 ERCC3, XPB (confirmed) Excision-repair cross-complementing rodent repair deficiency, (OMIM ID: 133510) 2q21 GPR17 (confirmed) G protein-coupled receptor-17 (OMIM ID: 603071) 2q21 LCT, LAC, LPH (confirmed) Lactase (OMIM ID: 603202) 2q21 MCM6 (provisional) Minichromosome maintenance deficient (mis5, S. pombe) 6 (OMIM ID: 601806) 2q21 MGAT5 (provisional) Mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl- (OMIM ID: 601774) 2q21-q22 GPR39 (provisional) G protein-coupled receptor-39 (OMIM ID: 602886) 2q21-q23 SCN6A (provisional) Sodium channel, voltage-gated, type VI, alpha polypeptide (OMIM ID: 182392) 2q22 NEB (confirmed) Nebulin (OMIM ID: 161650) 2q22-q23 CACNB4 (confirmed) Calcium channel, voltage-dependent, beta 4 subunit (OMIM ID: 601949) 2q22-q23 NURR1, NOT, TINUR (provisional) Nur related protein-1 (mouse), human homolog of (OMIM ID: 601828) 2q22-q23 ORC4L (provisional) Origin recognition complex, subunit 4, S. cerevisiae, homolog-like (OMIM ID: 603056) 2q23 DPP4, CD26, ADCP2 (confirmed) Dipeptidylpeptidase IV (CD26; adenosine deaminase complexing (OMIM ID: 102720) 2q23 FAP, FAPA (provisional) Fibroblast activation protein, alpha subunit (OMIM ID: 600403) 2q23-q24 ACVR1, ACVRLK2, ALK2 (confirmed) Activin A receptor, type I (OMIM ID: 102576) 2q23-q24.3 SCN2A1, SCN2A (confirmed) Sodium channel, voltage-gated, type II, alpha-1 polypeptide (OMIM ID: 182390) 2q23-q24 SCN2A2 (provisional) Sodium channel, voltage-gated, type II, alpha-2 polypeptide (OMIM ID: 601219) 2q24 BSEP, SPGP, PFIC2 (confirmed) Bile salt export pump (OMIM ID: 603201) 2q24 SCN1A (confirmed) Sodium channel, voltage-gated, type I, alpha polypeptide (OMIM ID: 182389) 2q24 SCN3A (confirmed) Sodium channel, voltage-gated, type III, alpha polypeptide (OMIM ID: 182391) 2q24-q25 SCP (provisional) Spastic cerebral palsy, symmetric, autosomal recessive (OMIM ID: 603513) 2q24-q31 GALNT3 (provisional) UDP-N-acetyl-alpha-D-galactosamine:polypeptide (OMIM ID: 601756) 2q24-q31 LRP2 (confirmed) Low density lipoprotein-related protein 2 (OMIM ID: 600073) 2q24-q31 MPRM (provisional) Myopathy, proximal, with early respiratory muscle involvement (OMIM ID: 603689) 2q24-q32 CHRNA1 (confirmed) Cholinergic receptor, nicotinic, alpha polypeptide-1 (muscle) (OMIM ID: 100690) 2q24-q32 MMDK, MDK (provisional) Mesomelic dysplasia, Kantaputra type (OMIM ID: 156232) 2q24-qter NPPC (tentative) Natriuretic peptide precursor C (OMIM ID: 600296) 2q24.1 GPD2 (confirmed) Glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (OMIM ID: 138430) 2q24.1 KCNJ3, GIRK1 (provisional) Potassium inwardly-rectifying channel, subfamily J, member 3 (OMIM ID: 601534) 2q24.3 TTN (confirmed) Titin (OMIM ID: 188840) 2q31 AGPS, ADHAPS (provisional) Alkylglycerone-phosphate synthase (OMIM ID: 603051) 2q31 BBS5 (provisional) Bardet-Biedl syndrome 5 (OMIM ID: 603650) 2q31 COL3A1 (confirmed) Collagen III, alpha-1 polypeptide (OMIM ID: 120180) 2q31 COL5A2 (confirmed) Collagen V, alpha-2 polypeptide (OMIM ID: 120190) 2q31 GAD1 (confirmed) Glutamate decarboxylase-1, brain (67kD) (OMIM ID: 266100) 2q31 IDDM7 (provisional) Insulin-dependent diabetes mellitus-7 (OMIM ID: 600321) 2q31 IL17, CTLA8 (provisional) Interleukin-17 (OMIM ID: 603149) 2q31 NFE2L2, NRF2 (provisional) Nuclear factor, erythroid-derived 2-like 2 (OMIM ID: 600492) 2q31 SP3 (provisional) Sp3 transcription factor (OMIM ID: 601804) 2q31-q32 EVX2 (provisional) Even-skipped homeo box-2 (OMIM ID: 142991) 2q31-q32 HOXD@, HOX4@ (confirmed) HOMEO BOX D CLUSTER (OMIM ID: ) 2q31-q32 HOXD3, HOX4A (confirmed) Homeo box-D3 (OMIM ID: 142980) 2q31-q32 HOXD4, HOX4B (confirmed) Homeo box-D4 (OMIM ID: 142981) 2q31-q32 HOXD9, HOX4C (confirmed) Homeo box-D9 (OMIM ID: 142982) 2q31-q32 HOXD10, HOX4D (confirmed) Homeo box-D10 (OMIM ID: 142984) 2q31-q32 HOXD8, HOX4E (confirmed) Homeo box-D8 (OMIM ID: 142985) 2q31-q32 HOXD11, HOX4F (confirmed) Homeo box-D11 (OMIM ID: 142986) 2q31-q32 HOXD1, HOX4G (confirmed) Homeo box-D1 (OMIM ID: 142987) 2q31-q32 HOXD12, HOX4H (provisional) Homeo box-D12 (OMIM ID: 142988) 2q31-q32 HOXD13, HOX4I, SPD (confirmed) Homeo box-D13 (OMIM ID: 142989) 2q31-q32 ITGA4, CD49D (confirmed) Integrin, alpha-4 (antigen CD49D, alpha-4 subunit of VLA-4 receptor) (OMIM ID: 192975) 2q31-q32 ITGAV, VNRA (confirmed) Integrin, alpha-V (vitronectin receptor, alpha polypeptide) (OMIM ID: 193210) 2q31-q32 PPH1 (confirmed) Primary pulmonary hypertension 1 (OMIM ID: 178600) 2q31-q32.1 CHN1, CHN, ARHGAP2, RHOGAP2 (provisional) Chimerin 1 (GTPase-activating protein, rho, 2) (OMIM ID: 118423) 2q31-q32.1 TFPI, LACI (confirmed) Tissue factor pathway inhibitor (lipoprotein-associated coagulation (OMIM ID: 152310) 2q31-q33 PMS1, PMSL1 (provisional) Postmeiotic segregation increased (S. cerevisiae)-like 1 (OMIM ID: 600258) 2q31.2-q33.1 HAT1 (provisional) Histone acetyltransferase-1 (OMIM ID: 603053) 2q32 CREB2 (confirmed) cAMP-response element-binding protein-2 (OMIM ID: 123811) 2q32 DLX1 (provisional) Distal-less homeo box-1 (OMIM ID: 600029) 2q32 DLX2, TES1 (confirmed) Distal-less homeo box-2 (OMIM ID: 126255) 2q32 INPP1 (provisional) Inositol polyphosphate-1-phosphatase (OMIM ID: 147263) 2q32 NEUROD (provisional) Neurogenic differentiation (OMIM ID: 601724) 2q32 WSS (provisional) Wrinkly skin syndrome (OMIM ID: 278250) 2q32-q34 GLS (provisional) Glutaminase (OMIM ID: 138280) 2q32-q33.3 RPE (confirmed) Ribulose 5-phosphate 3-epimerase (OMIM ID: 180480) 2q32.1 GDF8, MSTN (tentative) Growth differentiation factor-8 (myostatin) (OMIM ID: 601788) 2q32.1-q32.3 ARVD4 (provisional) Arrhythmogenic right ventricular dysplasia-4 (OMIM ID: 602087) 2q32.1-qter MYL1 (confirmed) Myosin, light polypeptide-1, alkali; skeletal, fast (OMIM ID: 160780) 2q32.2-q32.3 STAT1 (provisional) Signal transducer and activator of transcription-1 (OMIM ID: 600555) 2q32.2-q32.3 STAT4 (provisional) Signal transducer and activator of transcription-4 (OMIM ID: 600558) 2q32.2-q33 UBL1, SMT3 (provisional) Ubiquitin-like 1 (OMIM ID: 601912) 2q32.3-q33 NAB1 (provisional) NGFI-A-binding protein, ERG1-binding protein (OMIM ID: 600800) 2q32.3-q34 CREB1 (confirmed) cAMP-response element-binding protein-1 (OMIM ID: 123810) 2q33 ALS2 (confirmed) Amyotrophic lateral sclerosis-2, juvenile recessive (OMIM ID: 205100) 2q33 AOX1 (confirmed) Aldehyde oxidase-1 (OMIM ID: 602841) 2q33 COQ7, CLKH1, CLK1 (provisional) Coenzyme Q7 (OMIM ID: 601683) 2q33 CTLA4 (confirmed) Cytotoxic T-lymphocyte-associated serine esterase-4 (OMIM ID: 123890) 2q33 FZD7 (provisional) Frizzled, drosophila, homolog of, 7 (OMIM ID: 603410) 2q33 IDDM12 (provisional) Insulin-dependent diabetes mellitus-12 (OMIM ID: 601388) 2q33 ORC2L (provisional) Origin recognition complex, subunit 2-like, yeast, homolog of (OMIM ID: 601182) 2q33 PLCE, PLCL (provisional) Phospholipase C, epsilon (OMIM ID: 600597) 2q33 PTHR2 (provisional) Parathyroid hormone receptor 2 (OMIM ID: 601469) 2q33-q34 CASP8, MCH5 (provisional) Caspase 8, apoptosis-related cysteine protease (OMIM ID: 601763) 2q33-q34 CASP10, MCH4 (provisional) Caspase 10, apoptosis-related cysteine protease (OMIM ID: 601762) 2q33-q34 CD28 (confirmed) CD28 antigen (Tp44) (OMIM ID: 186760) 2q33-q34 CHRND, ACHRD (confirmed) Cholinergic receptor, nicotinic, delta polypeptide (OMIM ID: 100720) 2q33-q34 CHRNG, ACHRG (confirmed) Cholinergic receptor, nicotinic, gamma polypeptide (OMIM ID: 100730) 2q33-q34 FZD5 (tentative) Polarity gene 'frizzled,' Drosophila, human homolog of (OMIM ID: 601723) 2q33-q34 IGFBP2 (confirmed) Insulin-like growth factor-binding protein-2 (36kD) (OMIM ID: 146731) 2q33-q34 NDUFS1 (provisional) NADH dehydrogenase (ubiquinone), Fe-S protein-1 (75kD) (OMIM ID: 157655) 2q33-q35 CACA (provisional) Cataract, congenital aculeiform (OMIM ID: 115700) 2q33-q35 CHE2 (provisional) Cholinesterase, serum, 2 (OMIM ID: 177500) 2q33-q35 CRYG@, CCL (confirmed) CRYSTALLIN, GAMMA POLYPEPTIDE CLUSTER (OMIM ID: ) 2q33-q35 CRYGA, CRYG1 (confirmed) Crystallin, gamma A (OMIM ID: 123660) 2q33-q35 CRYGB, CRYG2 (confirmed) Crystallin, gamma B (OMIM ID: 123670) 2q33-q35 CRYGC, CRYG3 (confirmed) Crystallin, gamma C (OMIM ID: 123680) 2q33-q35 CRYGD, CRYG4 (confirmed) Crystallin, gamma D (OMIM ID: 123690) 2q33-q35 ICR2B, LI2 (provisional) Ichthyosis congenita II (OMIM ID: 601277) 2q33-q35 PCC, CCP (provisional) Cataract, polymorphic congenital, autosomal dominant nonnuclear (OMIM ID: 601286) 2q33-q35 PI7, PN1 (provisional) Protease inhibitor 7 (protease nexin I) (OMIM ID: 177010) 2q33-q35 PNKD, FPD1, PDC, DYT8 (provisional) Paroxysmal nonkinesiogenic dyskinesia (OMIM ID: 118800) 2q33-q36 INHA (confirmed) Inhibin, alpha (OMIM ID: 147380) 2q33-q37 FLNMS (provisional) Finnish lethal neonatal metabolic syndrome (OMIM ID: 603358) 2q33-q37 SCYA20, MIP3A, LARC (provisional) Small inducible cytokine subfamily A, member 20 (OMIM ID: 601960) 2q33-qter CYP27A1, CYP27, CTX (provisional) Cytochrome P450, subfamily XXVIIA, polypeptide 1 (sterol (OMIM ID: 213700) 2q33.3 IDH1 (confirmed) Isocitrate dehydrogenase, soluble (OMIM ID: 147700) 2q33.3-q34 ERBB4, HER4 (provisional) Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4 (OMIM ID: 600543) 2q34 FN1 (confirmed) Fibronectin-1 (OMIM ID: 135600) 2q34 IDDM13 (provisional) Insulin-dependent diabetes mellitus-13 (OMIM ID: 601318) 2q34 TCL4 (provisional) T-cell leukemia/lymphoma-4 (OMIM ID: 186860) 2q34-q35 ACADL, LCAD (provisional) Acyl-Coenzyme A dehydrogenase, long chain (OMIM ID: 201460) 2q34-q35 FACL3, ACS3 (confirmed) Fatty-acid-Coenzyme A ligase, long-chain 3 (OMIM ID: 602371) 2q34-q35 MAP2 (provisional) Microtubule-associated protein-2 (OMIM ID: 157130) 2q34-q36 BJS, PTD (provisional) Bjornstad syndrome (pili torti and deafness) (OMIM ID: 262000) 2q34-q36 CRYBA2 (provisional) Crystallin, beta A2 (OMIM ID: 600836) 2q35 CPS1 (confirmed) Carbamoyl-phosphate synthetase 1, mitochondrial (OMIM ID: 237300) 2q35 DES (provisional) Desmin (OMIM ID: 125660) 2q35 IL8RA (confirmed) Interleukin-8 receptor, alpha (OMIM ID: 146929) 2q35 IL8RB (confirmed) Interleukin-8 receptor, beta (OMIM ID: 146928) 2q35 PAX3, WS1, HUP2, CDHS (confirmed) Paired box homeotic gene-3 (OMIM ID: 193500) 2q35 PSMB3 (provisional) Proteasome subunit, beta type, 3 (OMIM ID: 602176) 2q35 XRCC5 (confirmed) X-ray repair, complementing defective, repair in Chinese hamster (OMIM ID: 194364) 2q35 NRAMP1, NRAMP (confirmed) Natural resistance-associated macrophage protein (OMIM ID: 600266) 2q35-q36 SCG2, CHGC (provisional) Secretogranin II (chromogranin C) (OMIM ID: 118930) 2q35-q36 TNP1 (provisional) Transition protein-1 (OMIM ID: 190231) 2q35-q36 TNS (provisional) Tensin (OMIM ID: 600076) 2q35-q36 VIL1 (confirmed) Villin-1 (OMIM ID: 193040) 2q35-q36.1 PTPRN, IA2 (provisional) Protein tyrosine phosphatase, receptor type N (islet cell antigen 2) (OMIM ID: 601773) 2q35-q37 GPC1 (provisional) Glypican 1 (OMIM ID: 600395) 2q36 HRB, RIP, RAB (provisional) HIV-1 Rev binding protein (OMIM ID: 600862) 2q36 IRS1 (provisional) Insulin receptor substrate-1 (OMIM ID: 147545) 2q36 SLC2C, AE3 (confirmed) Anion exchanger 3, neuronal (OMIM ID: 106195) 2q36-q37 AGXT, SPAT (provisional) Alanine-glyoxylate aminotransferase, liver-specific peroxisomal (OMIM ID: 259900) 2q36-q37 COL4A3 (confirmed) Collagen IV, alpha-3 polypeptide (Goodpasture antigen) (OMIM ID: 120070) 2q36-q37 COL4A4 (confirmed) Collagen IV, alpha-4 polypeptide (OMIM ID: 120131) 2q36-q37 GBX2 (provisional) Gastrulation brain homeo box-2 (OMIM ID: 601135) 2q36-q37 GCG (confirmed) Glucagon (OMIM ID: 138030) 2q36-q37 INPP5D, SHIP (provisional) Inositol polyphosphate-5-phosphatase, 145kD (OMIM ID: 601582) 2q36-q37 PDE6D (confirmed) Phosphodiesterase 6D, cGMP-specific, rod, delta (OMIM ID: 602676) 2q36-q37.2 VGL (provisional) Vigilin (OMIM ID: 600371) 2q36.3-q37.1 ALPI (confirmed) Alkaline phosphatase, intestinal (OMIM ID: 171740) 2q36.3-q37.1 HTR2B (provisional) 5-hydroxytryptamine (serotonin) receptor-2B (OMIM ID: 601122) 2q37 ALPP (confirmed) Alkaline phosphatase, placental (Regan isozyme) (OMIM ID: 171800) 2q37 ALPPL2 (provisional) Alkaline phosphatase, placental-like 2 (OMIM ID: 171810) 2q37 ATSV (provisional) Axonal transport of synaptic vesicles (OMIM ID: 601255) 2q37 BDE (tentative) Brachydactyly type E (OMIM ID: 113300) 2q37 BDMR (provisional) Brachydactyly-mental retardation syndrome (OMIM ID: 600430) 2q37 COL6A3 (confirmed) Collagen VI, alpha-3 polypeptide (OMIM ID: 120250) 2q37 DIFF6 (provisional) Differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase) (OMIM ID: 601506) 2q37 HDLBP (provisional) High-density lipoprotein-binding protein (OMIM ID: 142695) 2q37 KCNJ13 (provisional) Potassium channel, inwardly rectifying, subfamily J, member 13 (OMIM ID: 603208) 2q37-qter SPP2 (provisional) Secreted phosphoprotein-2, 24kD (OMIM ID: 602637) 2q37.1 SAG (confirmed) S-antigen; retina and pineal gland (arrestin) (OMIM ID: 181031) 2q37.3 GPR35 (provisional) G protein-coupled receptor-35 (OMIM ID: 602646) 2q37.3 PDCD1 (confirmed) Programmed cell death 1 (OMIM ID: 600244) 2q37.3 PPP1R7, SDS22 (provisional) Protein phosphatase 1, regulatory subunit 7 (OMIM ID: 602877) C Chr.2 ADRA2B, ADRA2L1 (provisional) Adrenergic, alpha-2B-, receptor (OMIM ID: 104260) Chr.2 ATP5G3 (provisional) ATP synthase, mitochondrial, C subunit-3 (OMIM ID: 602736) Chr.2 CUL3 (provisional) Cullin 3 (OMIM ID: 603136) Chr.2 DUSP11, PIR1 (provisional) Dual specificity phosphatase-11, RNA/RNP complex-interacting (OMIM ID: 603092) Chr.2 EEF1B2 (provisional) Eukaryotic translation elongation factor-1, beta-2 (OMIM ID: 600655) Chr.2 HPCAL1 (provisional) Hippocalcin-like 1 (OMIM ID: 600207) Chr.2 IHH (provisional) Indian hedgehog (Drosophila), human homolog of (OMIM ID: 600726) Chr.2 ITGA6 (provisional) Integrin, alpha-6 (OMIM ID: 147556) Chr.2 ITGB6 (provisional) Integrin, beta-6 (OMIM ID: 147558) Chr.2 LSFC (provisional) Leigh syndrome, French-Canadian type (OMIM ID: 220111) Chr.2 MIC18 (provisional) Antigen identified by monoclonal antibody AUA1 (OMIM ID: 185535) Chr.2 NKHC (tentative) Kinesin, heavy chain, neuron-specific (OMIM ID: 602821) Chr.2 PTMA, TMSA (provisional) Prothymosin, alpha (gene sequence 28) (OMIM ID: 188390) Chr.2 SLC9A4, NHE4 (provisional) Solute carrier family 9 (sodium/hydrogen exchanger), isoform 4 (OMIM ID: 600531) Chr.2 TACR1, TAC1R, NK1R (confirmed) Tachykinin receptor 1 (substance P receptor; neurokinin-1 receptor) (OMIM ID: 162323) Chr.2 TNFAIP6 (provisional) Tumor necrosis factor, alpha-induced protein-6 (OMIM ID: 600410) Chr.2 UGT1, UGT1A1, GNT1 (provisional) UDP glycosyltransferase 1 (OMIM ID: 191740) Chr.2 UCN, UROC (provisional) Urocortin (OMIM ID: 600945) Chr.2 UV24 (provisional) Ultraviolet damage, repair of, in UV24 (OMIM ID: 192070) Chr.2 ZNF2 (provisional) Zinc finger protein-2 (OMIM ID: 194500) 3 3pter-p21 CCK (confirmed) Cholecystokinin (OMIM ID: 118440) 3pter-p21 GPR13, GPRV28 (provisional) G protein-coupled receptor-13 (OMIM ID: 601470) 3pter-p14 SEP (provisional) SEP transmembrane protein (OMIM ID: 601053) 3p26.2 OGG1 (confirmed) 8-hydroxyguanine DNA glycosylase (OMIM ID: 601982) 3p26.2 OXTR (confirmed) Oxytocin receptor (OMIM ID: 167055) 3p26 PANG (provisional) Plasmocytoma-associated neuronal glycoprotein (OMIM ID: 601325) 3p26-p25 ATP2B2, PMCA2 (confirmed) ATPase, Ca++ transporting, plasma membrane, 2 (OMIM ID: 108733) 3p26-p25 BR140 (provisional) Bromodomain-containing protein, 140kD (OMIM ID: 602410) 3p26-p25 ITPR1 (confirmed) Inositol 1,4,5-triphosphate receptor, type 1 (OMIM ID: 147265) 3p26-p25 VHL (confirmed) von Hippel-Lindau syndrome (OMIM ID: 193300) 3p26-p24.2 MYMY (provisional) Moyamoya disease (OMIM ID: 252350) 3p26-p24 IL5RA (confirmed) Interleukin-5 receptor, alpha (OMIM ID: 147851) 3p26-p22 FANCD, FACD, FAD (provisional) Fanconi anemia, complementation group D (OMIM ID: 227646) 3p25.1 RAD23B (provisional) RAD23 (Saccharomyces cerevisiae) homolog B (OMIM ID: 600062) 3p25 CAV3, LGMD1C (provisional) Caveolin-3 (OMIM ID: 601253) 3p25 BTD (provisional) Biotinidase (OMIM ID: 253260) 3p25 PETS1 (provisional) Pancreatic endocrine tumor suppressor (OMIM ID: 602011) 3p25 PPARG, PPARG1, PPARG2 (provisional) Peroxisome proliferator activated recpetor, gamma (OMIM ID: 601487) 3p25 RAF1 (confirmed) Oncogene RAF1 (OMIM ID: 164760) 3p25 TR4 (provisional) Nuclear hormone receptor TR4 (OMIM ID: 601426) 3p25 WNT7A (provisional) Wingless-type MMTV integration site family, member 7A (OMIM ID: 601570) 3p25 XPC, XPCC (confirmed) Xeroderma pigmentosum, complementation group C (OMIM ID: 278720) 3p25-p24.2 MFS2 (provisional) Marfan syndrome, type II (OMIM ID: 154705) 3p25-p24 SEC13L1, D3S1231E, SEC13R (provisional) SEC13 (S. cerevisiae)-like 1 (OMIM ID: 600152) 3p25-p24 FBLN2 (provisional) Fibulin-2 (OMIM ID: 135821) 3p25-p24 SLC6A1, GABATR (provisional) Solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (OMIM ID: 137165) 3p25-p22 CMD1E, CDCD2, CMPD2 (provisional) Cardiomyopathy, dilated, 1E, autosomal dominant (OMIM ID: 601154) 3p25-q24 SLC6A6, TAUT (confirmed) Solute carrier family 6 (neurotransmitter transporter, taurine), (OMIM ID: 186854) 3p24.3 THRB, ERBA2, THR1 (confirmed) Thyroid hormone receptor, beta (avian erythroblastic leukemia viral (OMIM ID: 190160) 3p24.2 COLQ, EAD (confirmed) Collagenic tail of endplate acetylcholinesterase (OMIM ID: 603033) 3p24.2 UBE2E2 (provisional) Ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5) (OMIM ID: 602163) 3p24 CAF (provisional) CREBBP-associated factor (OMIM ID: 602303) 3p24 DAZL, DAZH, SPGYLA (provisional) Deleted in azoospermia-like (OMIM ID: 601486) 3p24 RARB, HAP (confirmed) Retinoic acid receptor, beta polypeptide (OMIM ID: 180220) 3p24-p22 RAB5A, RAB5 (provisional) RAS-associated protein RAB5A (OMIM ID: 179512) 3p24-p22 STAC (provisional) SRC homology three (SH3) and cysteine-rich domain (OMIM ID: 602317) 3p24-p21 SCN5A, LQT3, IVF (confirmed) Sodium channel, voltage-gated, type V, alpha polypeptide (OMIM ID: 600163) 3p23-p22 ACAA (provisional) Acetyl-Coenzyme A acyltransferase (peroxisomal 3-oxoacyl-Coenzyme A (OMIM ID: 261510) 3p23-p21 NKTR (provisional) Natural tumor-killer recognition sequence (OMIM ID: 161565) 3p23-p21 SCLC1 (confirmed) Small-cell cancer of lung (OMIM ID: 182280) 3p23-p21 SMARCC1, BAF155 (provisional) SWI/SNF related, matrix-associated, actin-dependent regulator of (OMIM ID: 601732) 3p23-p21 TDGF1 (confirmed) Teratocarcinoma-derived growth factor-1 (OMIM ID: 187395) 3p23 SATB1 (provisional) Special AT-rich sequence binding protein-1 (OMIM ID: 602075) 3p22 CMKBR8, CMKBRL2, CKRL1 (provisional) Chemokine (C-C) receptor 8 (OMIM ID: 601834) 3p22 TGFBR2, HNPCC6 (provisional) Transforming growth factor, beta receptor II (70-80kD) (OMIM ID: 190182) 3p22 VIPR1 (provisional) Vasoactive intestinal peptide receptor 1 (OMIM ID: 192321) 3p22-p21.33 TGM4 (provisional) Transglutaminase-4, prostate (OMIM ID: 600585) 3p22-p21.3 ACVR2B (provisional) Activin A receptor, type IIB (OMIM ID: 602730) 3p22-p21.3 CTNNB1 (confirmed) Catenin (cadherin-associated protein), beta 1 (88kD) (OMIM ID: 116806) 3p22-p21.3 MYD88 (provisional) Myeloid differentiation primary response gene 88 (OMIM ID: 602170) 3p22-p21.3 PLCD1 (provisional) Phospholipase C, delta-1 (OMIM ID: 602142) 3p22-p21.3 TCEA1, TF2S, GTF2S (provisional) Transcription elongation factor A, SII, 1 (OMIM ID: 601425) 3p22-p21.3 TNA (confirmed) Tetranectin (plasminogen-binding protein) (OMIM ID: 187520) 3p22-p21.1 PTHR1, PTHR (confirmed) Parathyroid hormone receptor-1 (OMIM ID: 168468) 3p22-p21 ZNF35, HF10 (provisional) Zinc finger protein-35 (HF.10) (OMIM ID: 194533) 3p21.33 GLB1 (confirmed) Galactosidase, beta-1 (OMIM ID: 230500) 3p21.31 CACT, CAC (provisional) Carnitine-acylcarnitine translocase (OMIM ID: 212138) 3p21.31 USP4, UNP (confirmed) Ubiquitin-specific protease-4 (OMIM ID: 603486) 3p21.3 ARHA, ARH12, RHOH12 (confirmed) Ras homolog gene family, member A (oncogene RHO H12) (OMIM ID: 165390) 3p21.3 BAP1 (confirmed) BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (OMIM ID: 603089) 3p21.3 CAMP, FALL39 (provisional) Cathelicidin antimicrobial peptide (OMIM ID: 600474) 3p21.3 CD39L3 (provisional) CD39-like 3 (OMIM ID: 603161) 3p21.3 CISH (provisional) Cytokine inducible SH2-containing protein (OMIM ID: 602441) 3p21.3 CMKBR3, CCR3, CKR3 (provisional) Chemokine (C-C) receptor 3 (OMIM ID: 601268) 3p21.3 CMKBR9, D6, CCR9, CCR10 (provisional) Chemokine (C-C) receptor 9 (OMIM ID: 602648) 3p21.3 COL7A1 (confirmed) Collagen VII, alpha-1 polypeptide (OMIM ID: 120120) 3p21.3 DNAH1, HL11, DNAHC1, HDHC7 (provisional) Dynein, axonemal, heavy chain-1 (OMIM ID: 603332) 3p21.3 GPX1 (confirmed) Glutathione peroxidase-1 (OMIM ID: 138320) 3p21.3 HYAL2, LUCA2 (provisional) Hyaluronoglucosaminidase 2 (OMIM ID: 603551) 3p21.3 IFRD2 (provisional) Interferon-related developmental regulator-2 (OMIM ID: 602725) 3p21.3 LAMR1, LAMBR (provisional) Laminin receptor-1 (67kD) (OMIM ID: 150370) 3p21.3 MAPKAP3, 3PK (provisional) Mitogen-activated protein kinase-activated protein kinase-3 (OMIM ID: 602130) 3p21.3 MLH1, COCA2 (provisional) mutL (E. coli) homolog 1 (OMIM ID: 120436) 3p21.3 MST1R, RON (provisional) Macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (OMIM ID: 600168) 3p21.3 SEMA3F, SEMA4 (provisional) Semaphorin III/F (OMIM ID: 601124) 3p21.3 SEMA5 (provisional) Semaphorin A(V) (OMIM ID: 601281) 3p21.3 TRR (provisional) Transfer RNA arginine (OMIM ID: 601994) 3p21.3 UQCRC1 (provisional) Ubiquinol-cytochrome c reductase core protein I (OMIM ID: 191328) 3p21.3-p21.2 HYAL1 (provisional) Hyaluronoglucosaminidase 1 (OMIM ID: 601492) 3p21.3-p21.2 PRKAR2A (confirmed) Protein kinase, cAMP-dependent, regulatory, type II, alpha (OMIM ID: 176910) 3p21.3-p21.1 GPR5 (provisional) G protein-coupled receptor-5 (OMIM ID: 600552) 3p21.3-p14.3 TNNC1 (confirmed) Troponin-C1, slow (OMIM ID: 191040) 3p21.2 IMPDH2, IMPD2 (confirmed) Inosine-5'-monophosphate dehydrogenase, type II (OMIM ID: 146691) 3p21.2-p21.1 AMT (provisional) Aminomethyltransferase (glycine cleavage system protein T) (OMIM ID: 238310) 3p21.2-p21.1 ARF2 (provisional) ADP-ribosylation factor 2 (OMIM ID: 600507) 3p21.2-p21.1 HESX1, RPX (provisional) Homeo box gene expressed in ES cells (OMIM ID: 601802) 3p21.2-p21.1 ITIH1 (confirmed) Inter-alpha (globulin) inhibitor, H1 polypeptide (OMIM ID: 147270) 3p21.2-p21.1 ITIH3 (confirmed) Inter-alpha (globulin) inhibitor, H3 polypeptide (OMIM ID: 146650) 3p21.2-p14.3 SLAP (provisional) Sarcolemmal-associated protein (OMIM ID: 602701) 3p21.2-p14.1 ITIH4, PK120, ITIHL1 (provisional) Inter-alpha (globulin) inhibitor, H4 polypeptide (OMIM ID: 600564) 3p21.2-p14.1 PEO2 (provisional) Progressive external ophthalmoplegia, type 2 (OMIM ID: 601226) 3p21.1 ACY1 (confirmed) Aminoacylase-1 (OMIM ID: 104620) 3p21.1 ALAS1 (confirmed) Aminolevulinate, delta-, synthase-1 (OMIM ID: 125290) 3p21.1 ARP (provisional) Arginine-rich protein (OMIM ID: 601916) 3p21.1 STK2, NRK2 (provisional) Serine/threonine protein kinase-2 (OMIM ID: 601959) 3p21.1-p14.3 DNASE1L3 (provisional) Deoxyribonuclease I-like 3 (OMIM ID: 602244) 3p21.1-p14.3 FLNB (confirmed) Filamin B, beta (OMIM ID: 603381) 3p21.1-p14.1 LRS1, LAR1 (provisional) Larsen syndrome 1 (autosomal dominant) (OMIM ID: 150250) 3p21.1-p12 SCA7, OPCA3 (confirmed) Spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal (OMIM ID: 164500) 3p21 APEH, D3S48E (confirmed) N-acylaminoacyl-peptide hydrolase (OMIM ID: 102645) 3p21 CDC25A (provisional) Cell division cycle 25A (OMIM ID: 116947) 3p21 CMKBR1 (provisional) Chemokine (C-C) receptor 1 (OMIM ID: 601159) 3p21 CMKBR2, CCR2 (confirmed) Chemokine (C-C) receptor 2 (OMIM ID: 601267) 3p21 CMKBR5, CCCKR5 (provisional) Chemokine (C-C) receptor 5 (OMIM ID: 601373) 3p21 DAG1, DAG (provisional) Dystrophin-associated glycoprotein-1 (OMIM ID: 128239) 3p21 DUSP7, MKPX, PYST2 (provisional) Dual-specificity phosphatase-7 (OMIM ID: 602749) 3p21 GNAI2, GNAI2B, GIP (confirmed) Guanine nucleotide-binding protein (G protein), alpha-inhibiting (OMIM ID: 139360) 3p21 GNAT1 (confirmed) Guanine nucleotide-binding protein (G protein), alpha-transducing (OMIM ID: 139330) 3p21 LAMB2, LAMS (confirmed) Laminin, beta-2 (laminin S) (OMIM ID: 150325) 3p21 MAP4 (provisional) Microtubule-associated protein 4 (OMIM ID: 157132) 3p21 MST1, HGFL (provisional) Macrophage-stimulating-1 (hepatocyte growth factor-like) (OMIM ID: 142408) 3p21 PPP2R5C (provisional) Protein phosphatase-2, regulatory subunit B (B56), gamma isoform (OMIM ID: 601645) 3p21 TCTA (provisional) T-cell leukemia translocation altered gene (OMIM ID: 600690) 3p21 UBE2 (provisional) Ubiquitin-activating enzyme-2 (OMIM ID: 191325) 3p21-p14 DFNB6 (provisional) Deafness, autosomal recessive 6 (OMIM ID: 600971) 3p21-p14 HRH1 (provisional) Histamine receptor, subclass H1 (OMIM ID: 600167) 3p21-p14 WNT5A (provisional) Wingless-type MMTV integration site family, member 5A (OMIM ID: 164975) 3p21-p12 TMF1 (provisional) TATA element modulatory factor 1 (OMIM ID: 601126) 3p14.3 ACOX2, BRCACOX (confirmed) Acyl-Coenzyme A oxidase 2, branched chain (OMIM ID: 601641) 3p14.3 CACNA1D, CACNL1A2, CCHL1A2 (confirmed) Calcium channel, voltage-dependent, L type, alpha 1D subunit (OMIM ID: 114206) 3p14.3 TKT (provisional) Transketolase (OMIM ID: 277730) 3p14.2 FHIT (provisional) Fragile histidine triad gene (OMIM ID: 601153) 3p14.2 POU3F3 (provisional) POU domain, class 3, transcription factor-3 (OMIM ID: 602480) 3p14.2 PTPRG, PTPG (confirmed) Protein tyrosine phosphatase, receptor type, gamma polypeptide (OMIM ID: 176886) 3p14.1-p12.3 MITF, WS2A (confirmed) Microphthalmia-associated transcription factor (OMIM ID: 156845) 3p13-p12 BBS3 (provisional) Bardet-Biedl syndrome 3 (OMIM ID: 600151) 3p13-q23 PDHB (provisional) Pyruvate dehydrogenase, E1 beta polypeptide (OMIM ID: 179060) 3p12 GBE1 (provisional) Glycogen branching enzyme (OMIM ID: 232500) 3p12 HTR1F, HTR1EL, MR77 (provisional) 5-hydroxytryptamine receptor 1F (OMIM ID: 182134) 3p12-q13.2 IL12A (provisional) Interleukin-12A (natural killer cell stimulatory factor-1, cytotoxic (OMIM ID: 161560) 3p12-qter ZNF80 (provisional) Zinc finger protein-80 (pT17) (OMIM ID: 194553) 3p11.2 EPHA3, ETK1, HEK (provisional) Ephrin receptor EphA3 (human embryo kinase 1) (OMIM ID: 179611) 3p11.1-q11.2 DMT1 (provisional) Dementia, familial, nonspecific (OMIM ID: 600795) 3p11.1-q11.2 PROS1 (confirmed) Protein S, alpha (OMIM ID: 176880) 3p11 POU1F1, PIT1 (confirmed) POU domain, class 1, transcription factor 1 (Pit1, growth hormone (OMIM ID: 173110) 3p MYL3 (provisional) Myosin, light polypeptide-3, alkali; ventricular, skeletal, slow (OMIM ID: 160790) 3p PRKCD (provisional) Protein kinase C, delta (OMIM ID: 176977) 3p SYN2 (provisional) Synapsin II (OMIM ID: 600755) 3p TOP2B (provisional) Topoisomerase (DNA) II, beta (180kD) (OMIM ID: 126431) 3p TRH (provisional) Thyrotropin-releasing hormone (OMIM ID: 275120) 3cen-q21 MYLK, MLCK (provisional) Myosin-light-polypeptide kinase (OMIM ID: 600922) 3q DM2 (provisional) Myotonic dystrophy 2 (OMIM ID: 602668) 3q PCLN1 (provisional) Paracellin 1 (OMIM ID: 603959) 3q PCYT1, CTPCT (tentative) Phosphate cytidylyltransferase 1, choline (OMIM ID: 123695) 3q RPN1 (provisional) Ribophorin I (OMIM ID: 180470) 3q11-q12 TF6 (provisional) TRK-fused gene (OMIM ID: 602498) 3q11.2-q13.1 GPR15 (provisional) G protein-coupled receptor-15 (OMIM ID: 601166) 3q12 CPO (provisional) Coproporphyrinogen oxidase (OMIM ID: 121300) 3q12-q13 MOX2 (confirmed) MRC OX-2 antigen (OMIM ID: 155970) 3q12-q13.1 COL8A1 (provisional) Collagen VIII, alpha-1 polypeptide (OMIM ID: 120251) 3q13 ETM1, FET1 (provisional) Tremor, familial essential, 1 (OMIM ID: 190300) 3q13 FACL1, LACS (provisional) Fatty-acid-Coenzyme A ligase, long-chain 1 (OMIM ID: 152425) 3q13 FIH (tentative) Hypoparathyroidism (OMIM ID: 146200) 3q13 HCLS1 (provisional) Hematopoietic cell-specific Lyn substrate 1 (OMIM ID: 601306) 3q13 UMPS, OPRT (confirmed) Uridine monophosphate synthetase (orotate phosphoribosyl transferase (OMIM ID: 258900) 3q13-q22 CMT2B (provisional) Charcot-Marie-Tooth neuropathy 2B (OMIM ID: 600882) 3q13.1 MHS4 (provisional) Malignant hyperthermia susceptibility 4 (OMIM ID: 600467) 3q13.1-q13.2 ALCAM (provisional) Activated leucocyte cell adhesion molecule (OMIM ID: 601662) 3q13.1-q13.2 MER6, CD47, IAP (confirmed) Antigen identified by monoclonal antibody 1D8 (OMIM ID: 601028) 3q13.2-q21 ADCY5 (confirmed) Adenylate cyclase-5 (OMIM ID: 600293) 3q13.2-q21 LSAMP, LAMP (provisional) Limbic system-associated membrane protein (OMIM ID: 603241) 3q13.3 DRD3 (provisional) Dopamine receptor D3 (OMIM ID: 126451) 3q13.3-q21 UPK1B (provisional) Uroplakin 1B (OMIM ID: 602380) 3q13.3-q24 ZNF9, CNBP1 (provisional) Zinc finger protein-9 (a cellular retroviral nucleic acid-binding (OMIM ID: 116955) 3q21 CD80, CD28LG, LAB7 (confirmed) CD80 antigen (CD28 antigen ligand 1, B7-1 antigen) (OMIM ID: 112203) 3q21 CD86, CD28LG2, LAB72 (provisional) CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) (OMIM ID: 601020) 3q21 CSTA, STFA, STF1 (provisional) Cystatin A (stefin A) (OMIM ID: 184600) 3q21 MCM2, CDCL1 (provisional) Minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin) (OMIM ID: 116945) 3q21 NCK (confirmed) Non-catalytic region of tyrosine kinase (OMIM ID: 600508) 3q21 RAB7 (confirmed) Ras-associated protein RAB7 (OMIM ID: 602298) 3q21 RUVBL1, NMP238, TIP49 (provisional) RUVB, E. coli, homolog-like 1 (OMIM ID: 603449) 3q21 SLC21A2, PGT (provisional) Solute carrier family 21 (prostaglandin transporter), member 2 (OMIM ID: 601460) 3q21 TF (confirmed) Transferrin (OMIM ID: 190000) 3q21-q22 MBS2 (provisional) Moebius syndrome 2 (OMIM ID: 601471) 3q21-q22 PCCB (confirmed) Propionyl Coenzyme A carboxylase, beta polypeptide (OMIM ID: 232050) 3q21-q22 RBP1, CRBP1 (confirmed) Retinol-binding protein-1, cellular (OMIM ID: 180260) 3q21-q23 ACPP (confirmed) Acid phosphatase, prostate (OMIM ID: 171790) 3q21-q23 EPHB1, EPHT2, NET (provisional) eph tyrosine kinase 2 (ephrin receptor EphB1) (OMIM ID: 600600) 3q21-q23 HGD, AKU (confirmed) Homogentisate 1,2-dioxygenase (homogentisate oxidase) (OMIM ID: 203500) 3q21-q23 LTF (confirmed) Lactotransferrin (OMIM ID: 150210) 3q21-q24 BCPM, HHD (confirmed) Benign chronic pemphigus (Hailey-Hailey disease) (OMIM ID: 169600) 3q21-q24 CASR, HHC1, PCAR1 (provisional) Calcium-sensing receptor (OMIM ID: 601199) 3q21-q24 CP (confirmed) Ceruloplasmin (OMIM ID: 117700) 3q21-q24 GLC1C (provisional) Glaucoma 1, open angle, C (OMIM ID: 601682) 3q21-q24 RHO, RP4 (confirmed) Rhodopsin (OMIM ID: 180380) 3q21-q25 AGTR1, AGTR1A, AT2R1 (confirmed) Angiotensin receptor 1 (OMIM ID: 106165) 3q21-q25 CP49, CP47 (provisional) Cytoskeletal protein, 49 kD (OMIM ID: 603212) 3q21-q25 TM4SF1, M3S1, TAAL6 (provisional) Transmembrane-4 superfamily, member 1 (OMIM ID: 191155) 3q21-q25 USH3 (provisional) Usher syndrome-3 (OMIM ID: 276902) 3q21-q27 MME, CD10, CALLA (confirmed) Membrane metallo-endopeptidase (common acute lymphocytic leukemia (OMIM ID: 120520) 3q21-q28 SIAT1 (provisional) Sialyltransferase-1 (beta-galactoside alpha-2,6-sialytransferase) (OMIM ID: 109675) 3q21-q28 TERC, TRC3, TR (tentative) Telomerase RNA component (OMIM ID: 602322) 3q21-qter EPHB3, ETK2 (provisional) EPH-like tyrosine kinase-2 (OMIM ID: 601839) 3q21-qter PLXN1, NOVP, NOV (provisional) Plexin 1 (NOV transmembrane protein) (OMIM ID: 601055) 3q21-qter RBP2, CRBP2 (provisional) Retinol-binding protein-2, cellular (OMIM ID: 180280) 3q21.3-q25.2 AADAC, DAC (provisional) Arylacetamide deacetylase (esterase) (OMIM ID: 600338) 3q22-q23 ATP1B3 (provisional) ATPase, Na+/K+ transporting, beta 3 polypeptide (OMIM ID: 601867) 3q22-q23 BPES, BPES1 (confirmed) Blepharophimosis, epicanthus inversus, and ptosis 1 (OMIM ID: 110100) 3q22-q23 RASA2, GAP1M (provisional) RAS p21 protein activator 2 (OMIM ID: 601589) 3q22-q24 ATR, FRP1 (provisional) Ataxia telangiectasia and Rad3-related (FRAP-related protein-1) (OMIM ID: 601215) 3q22-q24 TRPC1, TRP1 (provisional) Transient receptor potential channel 1 (OMIM ID: 602343) 3q23 TFDP2, DP2 (provisional) Transcription factor Dp-2 (E2F dimerization partner 2) (OMIM ID: 602160) 3q23-q24 PLOD2 (provisional) Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) (OMIM ID: 601865) 3q24 GMPS (provisional) Guanine monophosphate synthetase (OMIM ID: 600358) 3q24 ZIC1 (provisional) Zic family member-1 (OMIM ID: 600470) 3q25 GLCT3 (provisional) Beta-3-galactosyltransferase 3 (OMIM ID: 603094) 3q25 P2RY1, P2Y1 (confirmed) Purinergic receptor P2Y, G-protein coupled, 1 (OMIM ID: 601167) 3q25 PTX3 (confirmed) Pentraxin-3 (OMIM ID: 602492) 3q25 SIAH2 (provisional) Seven in absentia, Drosophila, homolog-2 (OMIM ID: 602213) 3q25-q26 SHOX2, SHOT, OG12 (provisional) Short stature homeo box 2 (OMIM ID: 602504) 3q25-q26 SI (provisional) Sucrase-isomaltase (OMIM ID: 222900) 3q25.1 MLF1 (provisional) Myeloid leukemia factor-1 (OMIM ID: 601402) 3q25.1-q25.2 PFN2, PFL, D3S1319E (provisional) Profilin-2 (OMIM ID: 176590) 3q25.1-q26.1 SMARCA3, SNF2L3, HIP116 (provisional) SWI/SNF related, matrix associated, actin dependent regulator of (OMIM ID: 603257) 3q25.2-q27 CCM3 (provisional) Cerebral cavernous malformations-3 (OMIM ID: 603285) 3q26 EVI1 (confirmed) Ectropic viral integration site-1; oncogene EVI1 (OMIM ID: 165215) 3q26 MDS1 (provisional) Myelodysplasia syndrome-1 (OMIM ID: 600049) 3q26 RPL22, EAP (confirmed) Ribosomal protein L22 (OMIM ID: 180474) 3q26 TNFSF10, TRAIL, APO2L (provisional) Tumor necrosis factor ligand superfamily, member 10 (OMIM ID: 603598) 3q26-qter CLCN2 (provisional) Chloride channel-2 (OMIM ID: 600570) 3q26.1 KCNAB1, KCNA1B (confirmed) Potassium voltage-gated channel, shaker-related subfamily, beta member (OMIM ID: 601141) 3q26.1-q26.2 BCHE, CHE1 (confirmed) Butyrylcholinesterase (OMIM ID: 177400) 3q26.1-q26.2 ECT2 (provisional) Epithelial cell transforming sequence 2 oncogene (OMIM ID: 600586) 3q26.1-q26.3 SLC2A2, GLUT2 (confirmed) Solute carrier family 2 (facilitated glucose transporter), member 2 (OMIM ID: 138160) 3q26.2-q26.3 OTM, OSP (provisional) Oligodendrocyte transmembrane protein (OMIM ID: 601326) 3q26.2-q26.3 USP13, ISOT3 (confirmed) Ubiquitin-specific protease-13 (OMIM ID: 603591) 3q26.2-qter APOD (provisional) Apolipoprotein D (OMIM ID: 107740) 3q26.3 CDL1 (tentative) Cornelia de Lange syndrome 1 (OMIM ID: 122470) 3q26.3 PIK3CA (provisional) Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide (OMIM ID: 171834) 3q26.3-q27 SOX2 (provisional) SRY (sex determining region Y)-box 2 (OMIM ID: 184429) 3q26.3-q27 THPO, MGDF, MPLLG, TPO (confirmed) Thrombopoietin (megakaryocyte growth and development factor) (OMIM ID: 600044) 3q27 AHSG (confirmed) Alpha-2HS-glycoprotein (OMIM ID: 138680) 3q27 BCL6 (provisional) B-cell CLL/lymphoma-6 (OMIM ID: 109565) 3q27 CHRD (provisional) Chordin (OMIM ID: 603475) 3q27 DVL3 (confirmed) Dishevelled 3 (homologous to Drosophila dsh) (OMIM ID: 601368) 3q27 EHHADH, PBFE (confirmed) Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase (OMIM ID: 261515) 3q27 EIF4G1, EIF4G (confirmed) Eukaryotic translation initiation factor 4 gamma, 1 (OMIM ID: 600495) 3q27 FIM3 (provisional) Friend murine leukemia virus integration site 3, homolog of (OMIM ID: 136770) 3q27 HRG (confirmed) Histidine-rich glycoprotein (OMIM ID: 142640) 3q27 KNG (confirmed) Kininogen (OMIM ID: 228960) 3q27 LMS (provisional) Limb-mammary syndrome (OMIM ID: 603543) 3q27 RFC4 (provisional) Replication factor C (activator 1) 4 (37kD) (OMIM ID: 102577) 3q27-q28 DGKG, DAGK3 (provisional) Diacylglycerol kinase, gamma, 90-kD (OMIM ID: 601854) 3q27-q28 MASP1, CRARF (provisional) Manan-binding lectin serine protease-1 (C4/C2 activating component of (OMIM ID: 600521) 3q27-q29 TP63 (provisional) Tumor protein p63 (OMIM ID: 603273) 3q28 CLAPM1 (provisional) Clathrin-associated/assembly/adaptor protein, medium 1 (OMIM ID: 601024) 3q28 ETV5, ERM (confirmed) ets variant gene 5 (ets-related molecule) (OMIM ID: 601600) 3q28 FGF12, FHF1 (confirmed) Fibroblast growth factor-12 (OMIM ID: 601513) 3q28 FXR1 (provisional) Fragile X mental retardation, autosomal homolog (OMIM ID: 600819) 3q28 IL1RAP (provisional) Interleukin 1 receptor accessory protein (OMIM ID: 602626) 3q28 LPP (provisional) Lipoma-preferred-partner gene (OMIM ID: 600700) 3q28 SST (confirmed) Somatostatin (OMIM ID: 182450) 3q28-q29 HRY (provisional) Hairy (Drosophila)-homolog (OMIM ID: 139605) 3q28-q29 OPA1 (confirmed) Optic atrophy 1 (autosomal dominant) (OMIM ID: 165500) 3q29 DLG1 (provisional) Discs, large (Drosophila) homolog 1 (OMIM ID: 601014) 3q29 MFI2, MAP97 (provisional) Melanoma-associated antigen p97 (OMIM ID: 155750) 3q29 MUC4 (provisional) Mucin 4, tracheobronchial (OMIM ID: 158372) 3q29 PPP1R2, IPP2 (provisional) Protein phosphatase-1, regulatory (inhibitor) subunit 2 (OMIM ID: 601792) 3q29 TFRC, TFR, CD71 (confirmed) Transferrin receptor (OMIM ID: 190010) 3p29-pter RPL29, HIP (provisional) Ribosomal protein L29 (OMIM ID: 601832) 3q29-qter RPL35A (provisional) Ribosomal protein L35A (OMIM ID: 180468) C Chr.3 AF8T (provisional) Temperature sensitive, tsAF8, complement (OMIM ID: 116950) Chr.3 CPA3 (provisional) Carboxypeptidase A3, mast cell (OMIM ID: 114851) Chr.3 CRYGS, CRYG8 (provisional) Crystallin, gamma S (OMIM ID: 123730) Chr.3 DNAH12, DNAHC3, HL19 (provisional) Dynein, heavy chain-5 (OMIM ID: 603340) Chr.3 ERCM1 (provisional) Excision-repair complementing defective repair in mouse cells (OMIM ID: 133535) Chr.3 ERVT4, TRV4 (provisional) Endogenous retroviral sequence, truncated 4 (band T4, 14.9kb) (OMIM ID: 190970) Chr.3 GAP43 (provisional) Neuron growth-associated protein 43 (OMIM ID: 162060) Chr.3 GATA2 (provisional) GATA-binding protein-2 (OMIM ID: 137295) Chr.3 GP9 (provisional) Glycoprotein IX, platelet (OMIM ID: 173515) Chr.3 GSTM1L, GST1L (provisional) Glutathione S-transferase M1-like (OMIM ID: 138270) Chr.3 HV1S (inconsistent) Herpes virus sensitivity (OMIM ID: 142450) Chr.3 PLD1 (provisional) Phospholipase D1, phosphatidylcholine-specific (OMIM ID: 602382) Chr.3 PLS1 (provisional) Plastin-1 (OMIM ID: 602734) Chr.3 RPS6KA1, RSK1 (provisional) Ribosomal protein S6 kinase, 90kD, 1 (OMIM ID: 601684) 4 4pter-q21 SOD3 (provisional) Superoxide dismutase-3, extracellular (OMIM ID: 185490) 4p16.3 ADD1 (confirmed) Adducin-1 (alpha) (OMIM ID: 102680) 4p16.3 DGKQ, DAGK4 (provisional) Diacylglycerol kinase, theta (110kD) (OMIM ID: 601207) 4p16.3 DFNA6 (provisional) Deafness, autosomal dominant 6 (OMIM ID: 600965) 4p16.3 DRD1B (provisional) Dopamine receptor D1B (OMIM ID: 126448) 4p16.3 FGFR3, ACH (confirmed) Fibroblast growth factor receptor-3 (OMIM ID: 134934) 4p16.3 GPRK2L, GPRK4 (provisional) G protein-coupled receptor kinase-2 (Drosophila)-like (OMIM ID: 137026) 4p16.3 HBP, SLBP (provisional) Hairpin binding protein, histone (OMIM ID: 602422) 4p16.3 HD, IT15 (confirmed) Huntingtin (OMIM ID: 143100) 4p16.3 IDUA, IDA (provisional) Iduronidase, alpha-L- (OMIM ID: 252800) 4p16.3 LRPAP1, A2MRAP (confirmed) Low density lipoprotein-related protein-associated protein 1 (OMIM ID: 104225) 4p16.3 MYL5 (provisional) Myosin, light polypeptide-5, regulatory (OMIM ID: 160782) 4p16.3 PDE6B, PDEB, CSNB3 (confirmed) Phosphodiesterase-6B, cGMP-specific, rod, beta (OMIM ID: 180072) 4p16.3 RNF4 (provisional) RING finger protein-4 (OMIM ID: 602850) 4p16.3 SH3BP2 (provisional) SH3-domain binding protein 2 (OMIM ID: 602104) 4p16.3 WHCR (confirmed) Wolf-Hirschhorn syndrome chromosome region (OMIM ID: 194190) 4p16.3 ZNF141, D4S90 (provisional) Zinc finger protein-141 (clone pHZ-44) (OMIM ID: 194648) 4p16.1 BAPX1, NKX3.2 (confirmed) Bagpipe homeo box, Drosophila, homolog of (OMIM ID: 602183) 4p16.1 HMX1, H6 (provisional) Homeo box (H6 family) 1 (OMIM ID: 142992) 4p16.1 MSX1, HOX7 (confirmed) msh (Drosophila) homeo box homolog 1 (formerly homeo box 7) (OMIM ID: 142983) 4p16.1 WFS1, WFRS, WFS (confirmed) Wolframin (OMIM ID: 222300) 4p16.1-p15 CRMP1, DPYSL1, DRP1 (provisional) Collapsin response mediator protein-1 (OMIM ID: 602462) 4p16.1-p15.3 DRD5, DRD1B, DRD1L2 (confirmed) Dopamine receptor D5 (OMIM ID: 126453) 4p16 CRSA, CRS3 (provisional) Craniosynostosis, Adelaide type (OMIM ID: 600593) 4p16 CTBP1 (provisional) C-terminal binding protein 1 (OMIM ID: 602618) 4p16 EVC (provisional) Ellis-van Creveld syndrome (OMIM ID: 225500) 4p16 EVCL (provisional) Ellis-van Creveld-like syndrome (OMIM ID: 602363) 4p16 GAK (provisional) Cyclin G associated kinase (OMIM ID: 602052) 4p16 S100P (provisional) S100 calcium-binding protein P (OMIM ID: 600614) 4p15.31 QDPR, DHPR (confirmed) Quinoid dihydropteridine reductase (OMIM ID: 261630) 4p15.3 ACOX3 (provisional) Acyl-coenzyme A oxidase 3, pristanoyl (OMIM ID: 603402) 4p15.3 DDX15, DBP1, HRH2 (provisional) DEAD/H box-15 (RNA helicase 2) (OMIM ID: 603403) 4p15.2-p15.1 CCKAR (confirmed) Cholecystokinin A receptor (OMIM ID: 118444) 4p15.1-p14 ART3 (provisional) ADP-ribosyltransferase 3 (OMIM ID: 603086) 4p15 CD38 (provisional) CD38 antigen (p45); ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase (OMIM ID: 107270) 4p15 LDB2, CLIM1 (confirmed) LIM domain-binding factor-2 (OMIM ID: 603450) 4p15 PCDH7, BHPCDH (provisional) Protocadherin-7 (OMIM ID: 602988) 4p15-p13 UGDH, UDPGDH (tentative) UDP-glucose dehydrogenase (OMIM ID: 603370) 4p14 HIP2 (provisional) Huntingtin-interacting protein-2 (OMIM ID: 602846) 4p14 TLR1, TIL (provisional) Toll-like receptor-1 (OMIM ID: 601194) 4p14 UCHL1 (provisional) Ubiquitin C-terminal esterase L1 (OMIM ID: 191342) 4p14-p13 RFC1, RECC1 (confirmed) Replication factor C (activator 1) 1 (145kD) (OMIM ID: 102579) 4p14-q12 GABRA4 (provisional) Gamma-aminobutyric acid (GABA) A receptor, alpha-4 (OMIM ID: 137141) 4p14-q12 PGM2 (confirmed) Phosphoglucomutase-2 (OMIM ID: 172000) 4p14-q21 BMP3 (provisional) Bone morphogenetic protein-3 (OMIM ID: 112263) 4p14-q21.1 GABRG1 (provisional) Gamma-aminobutyric acid (GABA) A receptor, gamma-1 (OMIM ID: 137166) 4p13 ARHH, TTF (provisional) Ras homolog gene family, member H (OMIM ID: 602037) 4p13 RPL9 (provisional) Ribosomal protein L9 (OMIM ID: 603686) 4p13-p12 GABRA2 (provisional) Gamma-aminobutyric acid (GABA) A receptor, alpha-2 (OMIM ID: 137140) 4p13-p12 GABRB1 (provisional) Gamma-aminobutyric acid (GABA) A receptor, beta-1 (OMIM ID: 137190) 4p13-q12 TAPVR1 (provisional) Total anomalous pulmonary venous return (OMIM ID: 106700) 4p12 TEC (provisional) tec protein tyrosine kinase (OMIM ID: 600583) 4p12 TXK, BTKL (confirmed) TXK tyrosine kinase (OMIM ID: 600058) 4p12-cen CNGA1, CNCG1 (confirmed) Cyclic nucleotide gated channel, alpha 1 (OMIM ID: 123825) 4p12-q13 PPBP, TGB1 (confirmed) Pro-platelet basic protein (beta-thromboglobulin, connective tissue (OMIM ID: 121010) 4p11-q12 PEPS (confirmed) Peptidase S (OMIM ID: 170250) 4p MHW1 (provisional) Mental health wellness 1 (OMIM ID: 603663) 4p STGD4 (provisional) Stargardt disease 4 (OMIM ID: 603786) 4q ATPSK1 (provisional) ATP sulfurylase/APS kinase-1 (OMIM ID: 603262) 4q DTDP2 (provisional) Dentin dysplasia, Shields type II (OMIM ID: 125420) 4q M4S1 (provisional) Membrane component, chromosome 4, surface marker (35kD glycoprotein) (OMIM ID: 600718) 4q MHW2 (provisional) Mental health wellness 2 (OMIM ID: 603664) 4q PSORS3 (provisional) Psoriasis susceptibility 3 (OMIM ID: 601454) 4q11-q13 AFM, ALBA, ALB2 (confirmed) Afamin (OMIM ID: 104145) 4q11-q13 AFP, HPAFP (confirmed) Alpha-fetoprotein (OMIM ID: 104150) 4q11-q13 ALB (confirmed) Albumin (OMIM ID: 103600) 4q11-q13 JPD (provisional) Periodontitis, juvenile (OMIM ID: 170650) 4q11-q13 STATH (provisional) Statherin (OMIM ID: 184470) 4q11-q21 AIH2 (provisional) Amelogenesis imperfecta-2, hypocalcification (autosomal dominant) (OMIM ID: 104500) 4q12 GC, DBP (confirmed) Group-specific component (vitamin D-binding protein) (OMIM ID: 139200) 4q12 IGFBP7, MAC25 (provisional) Insulin-like growth factor-binding protein-7 (OMIM ID: 602867) 4q12 SGCB, LGMD2E (confirmed) Sarcoglycan, beta (43kD dystrophin-associated glycoprotein) (OMIM ID: 600900) 4q12 KDR (confirmed) Kinase insert domain receptor (OMIM ID: 191306) 4q12 KIT, PBT (confirmed) Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene (OMIM ID: 164920) 4q12 PAICS, AIRC (provisional) Phosphoribosylaminoimidazole carboxylase (OMIM ID: 172439) 4q12 PDGFRA (confirmed) Platelet-derived growth factor receptor, alpha polypeptide (OMIM ID: 173490) 4q12 POL2RB (provisional) Polymerase (RNA) II (DNA directed) polypeptide B (140kD) (OMIM ID: 180661) 4q12 PPAT, GPAT (provisional) Phosphoribosylpyrophosphate amidotransferase (OMIM ID: 172450) 4q12-q13 GRO1, MGSA (confirmed) GRO1 oncogene (melanoma growth-stimulating activity) (OMIM ID: 155730) 4q12-q13 GRO2, MIP2A (provisional) GRO2 oncogene (OMIM ID: 139110) 4q12-q13 GRO3, MIP2B (provisional) GRO3 oncogene (OMIM ID: 139111) 4q12-q13 IL8 (provisional) Interleukin-8 (OMIM ID: 146930) 4q12-q13 PF4 (confirmed) Platelet factor 4 (OMIM ID: 173460) 4q12-q13 PF4V1 (confirmed) Platelet factor 4, variant 1 (PF4-like) (OMIM ID: 173461) 4q12-q13 TGB2 (provisional) Thromboglobulin, beta-2 (OMIM ID: 188035) 4q12-q13.3 CENPC1, CENPC (confirmed) Centromere autoantigen C1 (OMIM ID: 117141) 4q12-q21 SCYB6, GCP2 (provisional) Small inducible cytokine subfamily B (Cys-X-Cys), member b (OMIM ID: 138965) 4q13 HTN1 (provisional) Histatin-1 (OMIM ID: 142701) 4q13 HTN3, HTN2, HIS2 (provisional) Histatin-3 (OMIM ID: 142702) 4q13 UGT2B4, UGT2B11 (confirmed) UDP-glucuronyltransferase, family 2, beta-4 (OMIM ID: 600067) 4q13 UGT2B7, UGT2B9 (provisional) UDP-glucuronyltransferase, family 2, beta-7 (OMIM ID: 600068) 4q13 UGT2B15, UGT2B8 (confirmed) UDP-glucuronyltransferase, family 2, beta-15 (OMIM ID: 600069) 4q13 UGT2B17 (provisional) UDP-glucuronyltransferase, family 2, beta-17 (OMIM ID: 601903) 4q13-q21 AREG (provisional) Amphiregulin (OMIM ID: 104640) 4q13-q21 BTC (tentative) Betacellulin (OMIM ID: 600345) 4q13-q21 CSN10, CSN3 (confirmed) Casein, kappa (OMIM ID: 601695) 4q13-q21 DGI1 (confirmed) Dentinogenesis imperfecta-1 (OMIM ID: 125490) 4q13-q21 SCYB5, ENA78 (provisional) Small inducible cytokine subfamily B (Cys-X-Cys), member 5 (OMIM ID: 600324) 4q13.1 STE, EST (provisional) Sulfotransferase, estrogen-preferring (OMIM ID: 600043) 4q13.1-q21.1 PRKG2, PRKGR2 (provisional) Protein kinase, cGMP-dependent, type II (OMIM ID: 601591) 4q13.3-q21.1 DCK (confirmed) Deoxycytidine kinase (OMIM ID: 125450) 4q13.3-q21.2 RAD17 (provisional) RAD17, S. pombe, homolog of (OMIM ID: 603139) 4q16.1 ADRA2C, ADRA2L2 (confirmed) Adrenergic, alpha-2C-, receptor (OMIM ID: 104250) 4q2-q3 CLTB (provisional) Clathrin, light polypeptide (Lcb) (OMIM ID: 118970) 4q21 AMBN (confirmed) Ameloblastin (OMIM ID: 601259) 4q21 ANX3 (provisional) Annexin III (lipocortin III) (OMIM ID: 106490) 4q21 CDS1 (provisional) CDP-diacylglycerol synthase 1 (OMIM ID: 603548) 4q21 DMP1 (confirmed) Dentin matrix acidic phosphoprotein (OMIM ID: 600980) 4q21 FGF5 (confirmed) Fibroblast growth factor-5 (OMIM ID: 165190) 4q21 IGJ (provisional) Immunoglobulin J polypeptide, linker protein for (OMIM ID: 147790) 4q21 INP10 (confirmed) Interferon-inducible cytokine IP-10 (OMIM ID: 147310) 4q21 MIG (provisional) Monokine induced by gamma interferon (OMIM ID: 601704) 4q21 MLLT2, AF4 (provisional) Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) (OMIM ID: 159557) 4q21 SLC4A6, NBC3 (provisional) Solute carrier family 4, sodium bicarbonate cotransporter, member 6 (OMIM ID: 603318) 4q21 SNCA, NACP, PARK1 (confirmed) Synuclein, alpha (non A4 component of amyloid precursor) (OMIM ID: 163890) 4q21-q23 GNPTA (provisional) UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine (OMIM ID: 252500) 4q21-q23 PKD2, PKD4 (confirmed) Polycystin-2 (OMIM ID: 173910) 4q21-q24 FDH (confirmed) Formaldehyde dehydrogenase (OMIM ID: 136490) 4q21-q25 ADH5 (confirmed) Alcohol dehydrogenase (class III), chi polypeptide (OMIM ID: 103710) 4q21-q25 EIF4E, EIF4EL1 (confirmed) Eukaryotic translation initiation factor 4E (OMIM ID: 133440) 4q21-q25 FECB (tentative) Fecundity gene, Boorla, of sheep, homolog of (OMIM ID: 134720) 4q21-q25 IBSP (confirmed) Integrin-binding sialoprotein (bone sialoprotein II) (OMIM ID: 147563) 4q21-q25 RAP1GDS1 (provisional) RAP1, GTP-GDP dissociation stimulator 1 (OMIM ID: 179502) 4q21-q25 SPP1, OPN (confirmed) Secreted phosphoprotein-1 (osteopontin, bone sialoprotein) (OMIM ID: 166490) 4q21.1 CSN1 (confirmed) Casein, alpha (OMIM ID: 115450) 4q21.1 CSN2 (confirmed) Casein, beta (OMIM ID: 115460) 4q21.1-q21.2 HNRPD, AUF1, AUF1A (provisional) Heterogeneous nuclear ribonucleoprotein D (OMIM ID: 601324) 4q21.2 GNRHR (confirmed) Gonadotropin-releasing hormone receptor (OMIM ID: 138850) 4q21.2-q22 NKX6A (provisional) NK homeo box, family 6, member A (OMIM ID: 602563) 4q21.3 PTPN13 (confirmed) Protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (OMIM ID: 600267) 4q21.3 DSPP, DPP (provisional) Dentin sialophosphoprotein (OMIM ID: 125485) 4q22 ABCP, BCRP (provisional) ATP-binding cassette transporter, placenta-specific (OMIM ID: 603756) 4q22 ADHC1@ (confirmed) ALCOHOL DEHYDROGENASE, CLASS I, CLUSTER (OMIM ID: ) 4q22 ADH1 (confirmed) Alcohol dehydrogenase (class I), alpha polypeptide (OMIM ID: 103700) 4q22 ADH2 (confirmed) Alcohol dehydrogenase (class I), beta polypeptide (OMIM ID: 103720) 4q22 ADH3 (confirmed) Alcohol dehydrogenase (class I), gamma polypeptide (OMIM ID: 103730) 4q22 ADH4 (provisional) Alcohol dehydrogenase (class II), pi polypeptide (OMIM ID: 103740) 4q22 ATOH1, ATH1 (provisional) Atonal, Drosophila, homolog of, 1 (OMIM ID: 601461) 4q22 GRID2 (confirmed) Glutamate receptor, ionotropic, delta-2 (OMIM ID: 602368) 4q22-q23 PDHA2 (provisional) Pyruvate dehydrogenase, E1-alpha polypeptide, testis specific (OMIM ID: 179061) 4q22-q24 MTP (provisional) Microsomal triglyceride transfer protein (large polypeptide, 88kD) (OMIM ID: 157147) 4q22-q25 MANBA, MANB1 (confirmed) Mannosidase, beta A, lysosomal (OMIM ID: 248510) 4q22-q26 HADHSC, SCHAD (provisional) L-3-hydroxyacyl-CoA dehydrogenase, short chain (OMIM ID: 601609) 4q23-q24 ADH7 (provisional) Alcohol dehydrogenase-7 (OMIM ID: 600086) 4q23-q24 BMPR1B, ALK6 (provisional) Bone morphogenetic protein receptor, type IB (OMIM ID: 603248) 4q23-q24 NFKB1 (confirmed) Nuclear factor of kappa light chain gene enhancer in B-cells 1 (p105) (OMIM ID: 164011) 4q23-q25 LEF1 (provisional) Lymphoid enhancer-binding factor-1 (OMIM ID: 153245) 4q24 H2AZ (provisional) H2AZ histone (OMIM ID: 142763) 4q24-q25 CENPE (provisional) Centromere autoantigen E (312kD) (OMIM ID: 117143) 4q25 EGF (confirmed) Epidermal growth factor (OMIM ID: 131530) 4q25 ENPEP (provisional) Glutamyl aminopeptidase (aminopeptidase A) (OMIM ID: 138297) 4q25 IF (confirmed) I factor (complement) (OMIM ID: 217030) 4q25-q25 CASP6, MCH2 (confirmed) Caspase 6, apoptosis-related cysteine protease (OMIM ID: 601532) 4q25-q26 PITX2, IDG2, RIEG1, RGS, IGDS2 (confirmed) Paired-like homeodomain transcription factor-2 (OMIM ID: 601542) 4q25-q27 ANK2 (confirmed) Ankyrin-2, nonerythrocytic (OMIM ID: 106410) 4q25-q27 FGF2, FGFB (confirmed) Fibroblast growth factor-2 (basic) (OMIM ID: 134920) 4q25-q27 LQT4 (provisional) Long QT syndrome-4 (OMIM ID: 600919) 4q25-q34 PEE (tentative) Preeclampsia/eclampsia (OMIM ID: 189800) 4q26 CGT (provisional) UDP-galactose ceramide galactosyltransferase (cerebroside (OMIM ID: 601291) 4q26 PDE5A (confirmed) Phosphodiesterase 5A (OMIM ID: 603310) 4q26-q27 IL2 (confirmed) Interleukin-2 (OMIM ID: 147680) 4q26-q28 ANX5, ENX2 (confirmed) Annexin V (endonexin II) (OMIM ID: 131230) 4q27 CCNA, CCN1 (confirmed) Cyclin A (OMIM ID: 123835) 4q27 MAD2L1 (confirmed) Mitotic arrest deficient, yeast, homolog-like 1 (OMIM ID: 601467) 4q28 FGC@ (confirmed) FIBRINOGEN GENE CLUSTER (OMIM ID: ) 4q28 FGA (confirmed) Fibrinogen, alpha polypeptide (OMIM ID: 134820) 4q28 FGB (confirmed) Fibrinogen, beta polypeptide (OMIM ID: 134830) 4q28 FGG (confirmed) Fibrinogen, gamma polypeptide (OMIM ID: 134850) 4q28 MADH1, MADR1, SMAD1 (provisional) Mothers against decapentaplegic, Drosophila, homolog of, 1 (OMIM ID: 601595) 4q28-q31 ASMD (provisional) Anterior segment mesenchymal dysgenesis (OMIM ID: 107250) 4q28-q31 FABP2 (provisional) Fatty acid-binding protein, intestinal (OMIM ID: 134640) 4q28-q31 GYPB, SS, MNS (confirmed) Glycophorin B (includes Ss blood group) (OMIM ID: 111740) 4q28-q31 GYPE, GPE (provisional) Glycophorin E (OMIM ID: 138590) 4q28-q31 HCL2, RHC (provisional) Hair color 2 (red) (OMIM ID: 266300) 4q28-q31 MGST2, GST2 (provisional) Microsomal glutathione S-transferase 2 (OMIM ID: 601733) 4q28-q31 SF (confirmed) Stoltzfus blood group (OMIM ID: 111800) 4q28-q31 TYS (tentative) Sclerotylosis (OMIM ID: 181600) 4q28.2-q31.1 GYPA, MN, GPA (confirmed) Glycophorin A (includes MN blood group) (OMIM ID: 111300) 4q28.2-q31.1 NDUFC1 (provisional) NADH-ubiquinone oxidoreductase 1, subcomplex C1 (OMIM ID: 603844) 4q31 HMG2 (provisional) High-mobility group (nonhistone chromosomal) protein 2 (OMIM ID: 163906) 4q31 IL15 (provisional) Interleukin-15 (OMIM ID: 600554) 4q31 NPY2R (provisional) Neuropeptide Y receptor Y2 (OMIM ID: 162642) 4q31 RNASELI, RNS4I (provisional) Ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) (OMIM ID: 601213) 4q31 UCP1 (provisional) Uncoupling protein 1 (mitochondrial, proton carrier) (OMIM ID: 113730) 4q31-q32 NPY5R (confirmed) Neuropeptide Y receptor Y5 (OMIM ID: 602001) 4q31-q32 TDO2, TPH2, TRPO (confirmed) Tryptophan oxygenase (OMIM ID: 191070) 4q31.1 MLR, MCR (confirmed) Mineralocorticoid receptor (aldosterone receptor) (OMIM ID: 600983) 4q31.1-q31.2 SMARCA5, SNF2H (provisional) SWI/SNF-related, matrix-associated, actin-dependent regulator of (OMIM ID: 603375) 4q31.2 BRN3B (provisional) Brn3b POU domain transcription factor (OMIM ID: 113725) 4q31.2-q31.3 RPS3A (confirmed) Ribosomal protein S3a (OMIM ID: 180478) 4q31.3 GLRB (confirmed) Glycine receptor, beta subunit (OMIM ID: 138492) 4q31.3 PPID (confirmed) Peptidylprolyl isomerase D (cyclophilin D) (OMIM ID: 601753) 4q31.3-q32 NPY1R (provisional) Neuropeptide Y receptor (OMIM ID: 162641) 4q32 GUCY1A3, GUC1A3, GUCSA3 (provisional) Guanylate cyclase 1, soluble, alpha 3 (OMIM ID: 139396) 4q32 GUCY1B3, GUC1B3, GUCSB3 (provisional) Guanylate cyclase 1, soluble, beta 3 (OMIM ID: 139397) 4q32 TLR2, TIL4 (confirmed) Toll-like receptor-2 (OMIM ID: 603028) 4q32-q33 AGA (confirmed) Aspartylglucosaminidase (OMIM ID: 208400) 4q32-q33 GRIA2, GLUR2 (confirmed) Glutamate receptor, ionotropic, AMPA 2 (OMIM ID: 138247) 4q32-qter ETFDH (provisional) Electron transfer flavoprotein:ubiquinone oxidoreductase (OMIM ID: 231675) 4q32.1 HVBS6 (provisional) Hepatitis B virus integration site-6 (OMIM ID: 142380) 4q33 CLCN3 (confirmed) Chloride channel-3 (OMIM ID: 600580) 4q33-q34 GLRA3 (provisional) Glycine receptor, alpha-3 polypeptide (OMIM ID: 600421) 4q33-q35.1 CASP3, CPP32 (provisional) Caspase 3, apoptosis-related cysteine protease (OMIM ID: 600636) 4q34 GPM6A, M6A (confirmed) Glycoprotein M6A (OMIM ID: 601275) 4q34-q35 FACL2 (confirmed) Fatty-acid-Coenzyme A ligase, long-chain 2 (OMIM ID: 152426) 4q34-q35 FAT (provisional) FAT tumor suppressor (Drosophila) homolog (OMIM ID: 600976) 4q34-q35 HPGD (provisional) Hydroxyprostaglandin dehydrogenase 15-(NAD) (OMIM ID: 601688) 4q35 ANT1 (confirmed) Adenine nucleotide translocator-1 (skeletal muscle) (OMIM ID: 103220) 4q35 BHD, BFHD (provisional) Beukes familial hip dysplasia (OMIM ID: 142669) 4q35 CASP3, CPP32 (provisional) Caspase 3, apoptosis-related cysteine protease (OMIM ID: 600636) 4q35 F11 (confirmed) Coagulation factor XI (plasma thromboplastin antecedent) (OMIM ID: 264900) 4q35 FRG1, FSG1 (provisional) Facioscapulohumeral muscular dystrophy region gene-1 (OMIM ID: 601278) 4q35 FSHMD1A, FSHD1A (confirmed) Facioscapulohumeral muscular dystrophy-1A (OMIM ID: 158900) 4q35 HSPCAL2 (provisional) Heat-shock 90kD protein, alpha-like-2 (OMIM ID: 140574) 4q35 KLKB1, KLK3 (provisional) Kallikrein B plasma 1 (Fletcher factor) (OMIM ID: 229000) 4q35 TLR3 (provisional) Toll-like receptor-3 (OMIM ID: 603029) 4q35.1 IRF2 (provisional) Interferon regulatory factor-2 (OMIM ID: 147576) 4q35.1 MTNR1A (provisional) Melatonin receptor 1A (OMIM ID: 600665) C Chr.4 APBB2, FE65L1 (provisional) Amyloid beta A4 precursor protein-binding, family B, member 2 (OMIM ID: 602710) Chr.4 ATP1BL1 (provisional) ATPase, Na+K+ transporting, beta-1 polypeptide-like (OMIM ID: 182370) Chr.4 CD36L2, LIMPII (provisional) CD36 antigen (collagen type I receptor, thrombospondin receptor) - (OMIM ID: 602257) Chr.4 COX7A2 (provisional) Cytochrome c oxidase, subunit VIIa, polypeptide-2 (liver) (OMIM ID: 123996) Chr.4 CPE (provisional) Carboxypeptidase E (OMIM ID: 114855) Chr.4 EDNRA (confirmed) Endothelin receptor type A (OMIM ID: 131243) Chr.4 GTA, GGTB1 (provisional) Galactosyltransferase activator (OMIM ID: 137061) Chr.4 LAG5 (provisional) Leukocyte antigen group 5 (OMIM ID: 151450) Chr.4 MDF1 (provisional) Antigen identified by monoclonal antibody A-3A4 (OMIM ID: 107253) Chr.4 PDE1A (provisional) Phosphodiesterase-1A (OMIM ID: 171890) Chr.4 PPEF2 (provisional) Protein phsophatase, EF hand calcium-binding domain-2 (OMIM ID: 602256) Chr.4 PPP3CA, PPP2B, CALNA, CNA1 (confirmed) Protein phosphatase-3 (formerly 2B), catalytic subunit, alpha isoform (OMIM ID: 114105) Chr.4 SEN1, CSRB (provisional) Senescence-related, cellular, 1 (OMIM ID: 116960) Chr.4 TS13 (provisional) Temperature sensitivity complementation, ts13 (OMIM ID: 187320) 5 5pter-p15.33 NDUFS6 (provisional) NADH-ubiquinone oxidoreductase Fe-S protein 6 (OMIM ID: 603848) 5pter-q11 RARS (provisional) Arginyl-tRNA synthetase (OMIM ID: 107820) 5p15.33 TERT, TCS1, EST2 (provisional) Telomerase reverse transcriptase (OMIM ID: 187270) 5p15.3 ADCY2 (confirmed) Adenylyl cyclase-2, brain (OMIM ID: 103071) 5p15.3 SLC6A3, DAT1 (confirmed) Solute carrier family 6 (neurotransmitter transporter, dopamine), (OMIM ID: 126455) 5p15.3 SLC9A3, NHE3 (confirmed) Solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 (OMIM ID: 182307) 5p15.3-p15.2 MTRR (provisional) Methionine synthase reductase (OMIM ID: 602568) 5p15.2 DAP (provisional) Death-associated protein (OMIM ID: 600954) 5p15.2-p14.1 CMDJ (provisional) Craniometaphyseal dysplasia, Jackson type (OMIM ID: 123000) 5p15.1-p14 TRIO (provisional) Triple functional domain(PTPRF interacting) (OMIM ID: 601893) 5p15.1-p14.3 MYO10 (provisional) Myosin X (OMIM ID: 601481) 5p15 SDHA, SDH2, SDHF (confirmed) Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (OMIM ID: 600857) 5p15 SRD5A1 (provisional) Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid (OMIM ID: 184753) 5p14 MLVI2 (provisional) Moloney leukemia virus integration site-2 (OMIM ID: 157960) 5p14 PMCHL1 (provisional) Pro-melanin-concentrating hormone-like 1 (OMIM ID: 176793) 5p14-p13 CDH12, CDHB (provisional) Cadherin-12 (N-cadherin 2) (OMIM ID: 600562) 5p14-p13 HMGCS1 (confirmed) 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (OMIM ID: 142940) 5p14-p13 ZNF4 (provisional) Zinc finger protein-4 (OMIM ID: 194520) 5p14-p12 NPR3, ANPRC (provisional) Natriuretic peptide receptor C (OMIM ID: 108962) 5p13.3-p13.2 RAD1 (provisional) RAD1, S. pombe, homolog of (OMIM ID: 603153) 5p13.1 PTGER2 (provisional) Prostaglandin E receptor 2, EP2 subtype, 53kD (OMIM ID: 176804) 5p13.1-p12 GDNF (confirmed) Glial cell line derived neurotrophic factor (OMIM ID: 600837) 5p13 C6 (confirmed) Complement component-6 (OMIM ID: 217050) 5p13 C7 (confirmed) Complement component-7 (OMIM ID: 217070) 5p13 C9 (confirmed) Complement component-9 (OMIM ID: 120940) 5p13 DAB2, DOC2 (provisional) Disabled, drosophila, homolog of, 2 (Differentially expressed in (OMIM ID: 601236) 5p13 IL7R (provisional) Interleukin-7 receptor (OMIM ID: 146661) 5p13 SCOT, OXCT (provisional) Succinyl CoA:3-oxoacid CoA transferase (OMIM ID: 245050) 5p13 SKP2 (provisional) S-phase kinase-associated protein 2 (p45) (OMIM ID: 601436) 5p13 SLC1A3, EAAT1 (confirmed) Solute carrier family 1 (glial high affinity glutamate transporter), (OMIM ID: 600111) 5p13-p12 FGF10 (provisional) Fibroblast growth factor-10 (OMIM ID: 602115) 5p13-p12 GHR (confirmed) Growth hormone receptor (OMIM ID: 600946) 5p13-p12 LIFR (provisional) Leukemia inhibitory factor receptor (OMIM ID: 151443) 5p13-p12 PRLR (provisional) Prolactin receptor (OMIM ID: 176761) 5p13-cen TARS (provisional) Threonyl-tRNA synthetase (OMIM ID: 187790) 5p12 PRKAA1 (provisional) Protein kinase, AMP-activated, catalytic, alpha-1 (OMIM ID: 602739) 5p CCAL2, CPPDD (confirmed) Chondrocalcinosis 2 (calcium pyrophosphate dihydrate deposition (OMIM ID: 118600) 5p MHS6 (provisional) Malignant hyperthermia susceptibility 6 (OMIM ID: 601888) 5cen-q11 LARS (confirmed) Leucyl-tRNA synthetase (OMIM ID: 151350) 5q ISL1 (provisional) ISL1 transcription factor, LIM/homeodomain (islet-1) (OMIM ID: 600366) 5q PROP1 (provisional) Prophet of Pit1, paired-like homeodomain transcription factor (OMIM ID: 601538) 5q RPS23 (provisional) Ribosomal protein S23 (OMIM ID: 603683) 5q SYT4 (tentative) Synaptotagmin-4 (OMIM ID: 600103) 5q11 IL6ST (confirmed) Interleukin-6 signal transducer (gp130, oncostatin M receptor) (OMIM ID: 600694) 5q11 MOCS2, MPTS (provisional) Molybdenum cofactor synthesis-2 (OMIM ID: 603708) 5q11-q12 GZMA, CTLA3, HFSP (confirmed) Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; (OMIM ID: 140050) 5q11-q12 MSH3 (provisional) mutS (E. coli) homolog 3 (OMIM ID: 600887) 5q11-q13 ARSB (confirmed) Arylsulfatase B (OMIM ID: 253200) 5q11.1 NDUFS4, AQDQ (provisional) NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kD (NADH-coenzyme Q (OMIM ID: 602694) 5q11.2 KFS (tentative) Klippel-Feil syndrome (OMIM ID: 214300) 5q11.2-q13 HTR1A, ADRB2RL1 (confirmed) 5-hydroxytryptamine (serotonin) receptor-1A (OMIM ID: 109760) 5q11.2-q13.2 DHFR (confirmed) Dihydrofolate reductase (OMIM ID: 126060) 5q11.2-q13.3 CRHBP (confirmed) Corticotropin releasing hormone-binding protein (OMIM ID: 122559) 5q11.2-q13.3 SCZD1 (tentative) Schizophrenia susceptibility locus, chromosome 5-related (OMIM ID: 181510) 5q12 CCNB1 (confirmed) Cyclin B1 (OMIM ID: 123836) 5q12 LY64, RP105 (provisional) Lymphocyte antigen-64, radioprotective, 105kD (OMIM ID: 602226) 5q12 PDE4D, DPDE3 (confirmed) Phosphodiesterase-4D, cAMP-specific (dunce (Drosophila)-homolog (OMIM ID: 600129) 5q12-q13 FKHL8 (provisional) Forkhead, drosophila, homolog-like 8 (OMIM ID: 601091) 5q12-q13 KIF2 (provisional) Kinesin, heavy chain, 2 (OMIM ID: 602591) 5q12-q13 PMCHL2 (provisional) Pro-melanin-concentrating hormone-like 2 (OMIM ID: 176794) 5q12-q13 ZNF5 (provisional) Zinc finger protein-5 (OMIM ID: 194530) 5q12-q14 CSPG2 (confirmed) Chondroitin sulfate proteoglycan-2 (versican) (OMIM ID: 118661) 5q12-q14 EEF1B3 (provisional) Eukaryotic translation elongation factor-1, beta-3 (OMIM ID: 600656) 5q12.2-q13.3 GTF2H2 (provisional) General transcription factor IIH, polypeptide 2 (44kD subunit) (OMIM ID: 601748) 5q12.2-q13.3 H4F5, SMAM1 (provisional) Spinal muscular atrophy-related gene H4F5 (OMIM ID: 603011) 5q12.2-q13.3 NAIP (provisional) Neuronal apoptosis inhibitory protein (OMIM ID: 600355) 5q12.2-q13.3 SMN1 (confirmed) Survival of motor neuron 1, telomeric (OMIM ID: 600354) 5q12.2-q13.3 SMN2 (provisional) Survival of motor neuron 2, centromeric (OMIM ID: 601627) 5q13 F2R, CF2R, PAR1 (confirmed) Coagulation factor II (thrombin) receptor (OMIM ID: 187930) 5q13 F2RL2, PAR3 (provisional) Coagulation factor II receptor-like 2 (protease-actovated receptor 3) (OMIM ID: 601919) 5q13 GPR11, PAR2 (confirmed) G protein-coupled receptor-11 (OMIM ID: 600933) 5q13 HEXB (confirmed) Hexosaminidase B (beta polypeptide) (OMIM ID: 268800) 5q13 MAP1B (confirmed) Microtubule-associated protein-1B (OMIM ID: 157129) 5q13 PIK3R1, GRB1 (provisional) Phosphatidylinositol 3-kinase, regulatory, 1 (OMIM ID: 171833) 5q13-q14 WGN1, ERVR (provisional) Wagner syndrome (erosive vitreoretinopathy) (OMIM ID: 143200) 5q13-q14 XRCC4 (confirmed) X-ray repair, complementing defective, repair in Chinese hamster (OMIM ID: 194363) 5q13-q14.1 CRTL1 (provisional) Cartilage link protein (OMIM ID: 115435) 5q13-q23 RPS20A (provisional) Ribosomal protein S20A (OMIM ID: 180463) 5q13.3 CKMT2 (confirmed) Creatine kinase, mitochondrial-2 (sarcomeric) (OMIM ID: 123295) 5q13.3 RASA1, GAP (confirmed) RAS p21 protein activator 1 (GTPase activating protein) (OMIM ID: 139150) 5q13.3-q14 CCNH, CAK (provisional) Cyclin H (OMIM ID: 601953) 5q13.3-q14 HMGCR (confirmed) 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; (OMIM ID: 142910) 5q14 COX7C (provisional) Cytochrome C oxidase, subunit VII C (OMIM ID: 603774) 5q14 GLRX, GRX (provisional) Glutaredoxin (thioltransferase) (OMIM ID: 600443) 5q14 MEF2C (confirmed) MADS box transcription enhancer factor 2, polypeptide C (myocyte (OMIM ID: 600662) 5q14 TFCOUP1, ERBAL3, EAR3 (provisional) Transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, (OMIM ID: 132890) 5q14-q21 PAM (provisional) Peptidylglycine alpha-amidating monooxygenase (OMIM ID: 170270) 5q15-q21 CAST (provisional) Calpastatin (OMIM ID: 114090) 5q15-q21 CHD1 (provisional) Chromodomain helicase DNA binding protein-1 (OMIM ID: 602118) 5q15-q21 PCSK1, NEC1, PC1, PC3 (provisional) Proprotein convertase subtilisin/kexin type 1 (OMIM ID: 162150) 5q2 HSD17B4 (provisional) Hydroxysteroid (17-beta) dehydrogenase 4 (OMIM ID: 601860) 5q21 MCC (confirmed) Mutated in colorectal cancers (OMIM ID: 159350) 5q21 PST, PST1 (provisional) Polysialyltransferase (OMIM ID: 602547) 5q21-q22 APC, GS, FPC (confirmed) Adenomatous polyposis coli (OMIM ID: 175100) 5q21-q22 FER, TYK3 (confirmed) fer (fps/fes related) tyrosine kinase (OMIM ID: 176942) 5q21-q22 MANA2 (provisional) Mannosidase, alpha type II (OMIM ID: 154582) 5q21-q22 SRP19 (confirmed) Signal recognition particle 19kD (OMIM ID: 182175) 5q21-q23 CAMK4 (provisional) Ca(2+)-calmodulin-dependent protein kinase type IV of brain (OMIM ID: 114080) 5q22 U2AF1RS1 (provisional) U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 1 (OMIM ID: 601079) 5q22-q23 D5S346, DP1 (provisional) DNA segment, single copy probe LNS-CAI/LNS-CAII (deleted in polyposis (OMIM ID: 125265) 5q22.3-q31.3 LGMD1A, LGMD1 (provisional) Limb-girdle muscular dystrophy-1A, autosomal dominant (OMIM ID: 159000) 5q23 CAMLG (provisional) Calcium-modulating cyclophilin ligand (OMIM ID: 601118) 5q23 DTR, DTS, HBEGF, HEGFL (confirmed) Diphtheria toxin receptor (heparin-binding EGF-like growth factor) (OMIM ID: 126150) 5q23-q31 FBN2, CCA (provisional) Fibrillin-2 (OMIM ID: 121050) 5q23-q31 ITGA2, CD49B, BR (provisional) Integrin, alpha-2 (CD49B; alpha-2 subunit of VLA-2 receptor; platelet (OMIM ID: 192974) 5q23-q31 NEUROD3 (provisional) Neurogenic differentiation 3 (OMIM ID: 601726) 5q23-q31 NME5, NM23H5 (provisional) Nonmetastatic cells 5, protein expressed in (nonmetastatic protein 23, (OMIM ID: 603575) 5q23-q31 PPP2CA (provisional) Protein phosphatase-2 (formerly 2A), catalytic subunit, alpha isoform (OMIM ID: 176915) 5q23-q31 UBE2B, RAD6B (provisional) Ubiquitin-conjugating enzyme E2B (RAD6 homolog) (OMIM ID: 179095) 5q23-q33 CMTND (provisional) Charcot-Marie-Tooth neuropathy, demyelinating (OMIM ID: 601596) 5q23-q33 NRG2 (provisional) Neruregulin 2 (OMIM ID: 603818) 5q23-q35 FABP6, ILLBP (provisional) Fatty acid-binding protein 6, ileal (gastrotropin) (OMIM ID: 600422) 5q23.1-q23.3 SNCAIP (provisional) Synuclein-alpha-interacting protein (synphilin 1) (OMIM ID: 603779) 5q23.3 SLC12A2, NKCC1 (provisional) Solute carrier family 12 (sodium/potassium/chloride transporters), (OMIM ID: 600840) 5q23.3-q31.1 LMNB1 (provisional) Lamin B1 (OMIM ID: 150340) 5q23.3-q31.2 LOX (confirmed) Lysyl oxidase (OMIM ID: 153455) 5q31 ATQ1 (provisional) Antiquitin-1 (OMIM ID: 107323) 5q31 CDC25C (confirmed) Cell division cycle 25C (OMIM ID: 157680) 5q31 CTNNA1 (confirmed) Catenin (cadherin-associated protein), alpha 1 (102kD) (OMIM ID: 116805) 5q31 DIAPH1, DFNA1, LFHL1 (confirmed) Diaphanous, Drosophila, homolog of, 1 (OMIM ID: 602121) 5q31 FGF1, FGFA (confirmed) Fibroblast growth factor-1 (acidic) (OMIM ID: 131220) 5q31 GRL (confirmed) Glucocorticoid receptor, lymphocyte (OMIM ID: 138040) 5q31 IL13 (provisional) Interleukin-13 (OMIM ID: 147683) 5q31 MADH5, SMAD5 (provisional) Mothers against decapentaplegic, drosophila, homolog of, 5 (OMIM ID: 603110) 5q31 NPY6R, PP2 (confirmed) Neuropeptide Y receptor Y6 (OMIM ID: 601770) 5q31 POU4F3, BRN3C (confirmed) POU domain, class 4, transcription factor-3 (OMIM ID: 602460) 5q31 PITX1, PTX1, BFT, POTX (provisional) Paired-like homeodomain transcription factor-1 (OMIM ID: 602149) 5q31 PURA, PUR1 (provisional) Purine-rich element binding protein A (OMIM ID: 600473) 5q31 SEPP1 (provisional) Selenoprotein P, plasma, 1 (OMIM ID: 601484) 5q31 TCEB1L, OCP2 (confirmed) Transcription elongation factor B (SIII), polypeptide 1-like (OMIM ID: 600695) 5q31 TGFBI, CSD2, CDGG1, CSD, BIGH3 (confirmed) Transforming growth factor, beta-induced, 68kD (OMIM ID: 601692) 5q31-q32 PDGFRB, PDGFR (confirmed) Platelet-derived growth factor receptor, beta polypeptide (OMIM ID: 173410) 5q31-q33 CDX1 (confirmed) Caudal type homeo box transcription factor 1 (OMIM ID: 600746) 5q31-q33 BHR1 (provisional) Bronchial hyperresponsiveness-1 (bronchial asthma) (OMIM ID: 600807) 5q31-q33 EOS (provisional) Eosinophilia, familial (OMIM ID: 131400) 5q31-q33 HCI, HEMC (provisional) Hemangioma, capillary infantile (OMIM ID: 602089) 5q31-q33 HTR4 (provisional) 5-hydroxytryptamine (serotonin) receptor-4 (OMIM ID: 602164) 5q31-q33 PFBI (provisional) Plasmodium falciparum blood infection levels (OMIM ID: 248310) 5q31-q33 RPS14, EMTB (confirmed) Ribosomal protein S14 (OMIM ID: 130620) 5q31-q33 SM1 (confirmed) Schistosoma mansoni, susceptibility/resistance to (OMIM ID: 181460) 5q31.1 CD14 (confirmed) CD14 antigen (OMIM ID: 158120) 5q31.1 CDC23, APC8 (provisional) Cell division cycle 23 (OMIM ID: 603462) 5q31.1 CSF2, GMCSF (confirmed) Colony-stimulating factor-2 (granulocyte-macrophage) (OMIM ID: 138960) 5q31.1 EGR1 (confirmed) Early growth response-1 (OMIM ID: 128990) 5q31.1 HSPA9, MOT2 (provisional) Heat-shock 70kD protein-9 (mortalin) (OMIM ID: 600548) 5q31.1 IGES (provisional) Immunoglobulin E concentration, serum (OMIM ID: 147061) 5q31.1 IL3 (confirmed) Interleukin-3 (OMIM ID: 147740) 5q31.1 IL4 (confirmed) Interleukin-4 (OMIM ID: 147780) 5q31.1 IL5 (confirmed) Interleukin-5 (OMIM ID: 147850) 5q31.1 IL9 (confirmed) Interleukin-9 (OMIM ID: 146931) 5q31.1 IRF1, MAR (confirmed) Interferon regulatory factor-1 (OMIM ID: 147575) 5q31.1 TCF7 (provisional) Transcription factor-7, T-cell specific (OMIM ID: 189908) 5q31.1-q31.2 HSPA4 (provisional) Heat-shock 70kD protein-4 (OMIM ID: 601113) 5q31.1-q32 LECT2 (provisional) Leukocyte cell-derived chemotaxin 2 (OMIM ID: 602882) 5q31.1-q33.1 GABRG2 (confirmed) Gamma-aminobutyric acid (GABA) A receptor, gamma-2 (OMIM ID: 137164) 5q31.1-q33.1 IL12B, NKSF2 (confirmed) Interleukin-12B (natural killer cell stimulatory factor-2, cytotoxic (OMIM ID: 161561) 5q31.1-q35 GABRA6 (provisional) Gamma-aminobutyric acid (GABA) A receptor, alpha-6 (OMIM ID: 137143) 5q31.2 NDUFA2 (confirmed) NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8) (OMIM ID: 602137) 5q31.2 HINT, PRKCNH1 (provisional) Histidine triad nucleotide-binding protein (protein kinase C (OMIM ID: 601314) 5q31.2-q34 PDE6A, PDEA (confirmed) Phosphodiesterase-6A, cGMP-specific, rod, alpha (OMIM ID: 180071) 5q31.3-q32 SPARC, ON (confirmed) Osteonectin (secreted protein, acidic, cysteine-rich) (OMIM ID: 182120) 5q31.3-q33.1 GM2A (confirmed) GM2 ganglioside activator protein (OMIM ID: 272750) 5q32 CD74, DHLAG (confirmed) CD74 antigen (invariant polypeptide of major histocompatibility (OMIM ID: 142790) 5q32 GLRA1, STHE (confirmed) Glycine receptor, alpha-1 polypeptide (OMIM ID: 138491) 5q32 ITK, EMT (confirmed) T-cell-specific tyrosine kinase; homolog of mouse T-cell itk/tsk (OMIM ID: 186973) 5q32-q33 ATOX1, HAH1 (provisional) Antioxidant protein 1 (ATX, yeast, homolog of) (OMIM ID: 602270) 5q32-q33 ADAM19, MLTNB (provisional) A disintegrin and metalloproteinase domain-19 (meltrin-beta, mouse, (OMIM ID: 603640) 5q32-q33 PCDH1, PC42 (provisional) Protocadherin 1 (cadherin-like 1) (OMIM ID: 603626) 5q32-q33.1 DTD, DTDST, D5S1708 (confirmed) Diastrophic dysplasia sulfate transporter (OMIM ID: 222600) 5q32-q33.1 GPX3 (confirmed) Glutathione peroxidase-3, plasma (OMIM ID: 138321) 5q32-q33.1 TCOF1, MFD1 (confirmed) Treacher Collins-Franceschetti syndrome-1 (TREACLE) (OMIM ID: 154500) 5q32-q33.2 TTC1, TPR1 (provisional) Tetratricopeptide repeat domain-1 (OMIM ID: 601963) 5q32-q33.3 MFAP3 (provisional) Microfibrillar-associated protein-3 (OMIM ID: 600491) 5q32-q33.3 NDST1, HSST (confirmed) N-deacetylase/N-sulfotransferase (OMIM ID: 600853) 5q32-q34 ADRB2 (confirmed) Adrenergic, beta-2-, receptor, surface (OMIM ID: 109690) 5q32-q34 ANX6, CBP68 (confirmed) Annexin VI (calcium-binding protein p68) (OMIM ID: 114070) 5q32-q34 CCNG1 (provisional) Cyclin G1 (OMIM ID: 601578) 5q33 ADRA1B (confirmed) Adrenergic, alpha-1B-, receptor (OMIM ID: 104220) 5q33 GRIA1, GLUR1 (confirmed) Glutamate receptor, ionotropic, AMPA 1 (OMIM ID: 138248) 5q33 SGCD, SGD, LGMD2F (confirmed) Sarcoglyan, delta (35kD dystrophin-associated glycoprotein) (OMIM ID: 601411) 5q33-qter F12, HAF (confirmed) Coagulation factor XII (Hageman factor) (OMIM ID: 234000) 5q33-qter RPS17L1, RPS17A (provisional) Ribosomal protein S17A-like-1 (OMIM ID: 180461) 5q33-qter RPS20B (provisional) Ribosomal protein S20B (OMIM ID: 180464) 5q33.1 SLC22A5, OCTN2, CDSP, SCD (confirmed) Solute carrier, family 22 (organic cation transporter), member 5 (OMIM ID: 603377) 5q33.1-qter LCP2, SLP76 (provisional) Lymphocyte cytosolic protein-2 (SH2 domain-containing leukocyte (OMIM ID: 601603) 5q33.2 HMMR (provisional) Hyaluronan-mediated motility receptor (RHAMM) (OMIM ID: 600936) 5q33.2-q33.3 CSF1R, FMS (confirmed) Colony-stimulating factor-1 receptor; oncogene FMS (McDonough (OMIM ID: 164770) 5q34 CSX (confirmed) Cardiac-specific homeo box (OMIM ID: 600584) 5q34 DUSP1, CL100, PTPN10 (confirmed) Dual specificity phosphatase-1 (OMIM ID: 600714) 5q34 EBF, OLF1 (provisional) Early B-cell factor (olfactory neuronal transcription factor 1) (OMIM ID: 164343) 5q34 FKHL10, FREAC6 (provisional) Forkhead, drosophila, homolog-like 10 (OMIM ID: 601093) 5q34 UBH1 (provisional) Ubiquitin-hydrolyzing enzyme 1 (OMIM ID: 603091) 5q34-q35 GABRB2 (provisional) Gamma-aminobutyric acid (GABA) A receptor, beta-2 (OMIM ID: 600232) 5q34-q35 GABRA1 (confirmed) Gamma-aminobutyric acid (GABA) A receptor, alpha-1 (OMIM ID: 137160) 5q34-q35 GFPT2, GFAT2 (provisional) Glutamine: fructose-6-phosphate amidotransferase 2 (OMIM ID: 603865) 5q34-q35 MSX2, CRS2, HOX8 (confirmed) msh (Drosophila) homeo box homolog 2 (OMIM ID: 123101) 5q35 AMCN, AMCN1 (provisional) Arthrogryposis multiplex congenital, neurogenic (OMIM ID: 208100) 5q35 CANX (provisional) Calnexin (OMIM ID: 114217) 5q35 CHR (confirmed) Chromate resistance (sulfate transport) (OMIM ID: 118840) 5q35 GPRK6, GRK6 (provisional) G protein-coupled receptor kinase-6 (OMIM ID: 600869) 5q35.2 HK3 (confirmed) Hexokinase-3, white cell (OMIM ID: 142570) 5q35 LTC4S (provisional) Leukotriene C4 synthase (OMIM ID: 246530) 5q35 MGAT1, GLYT1 (confirmed) Mannosyl (alpha-1,3-)-glycoprotein beta-1,2, (OMIM ID: 160995) 5q35 NPM1 (provisional) Nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) (OMIM ID: 164040) 5q35 PRKM9 (provisional) Protein kinase, mitogen-activated 9 (OMIM ID: 602896) 5q35 SLC17A2, NPT2 (confirmed) Solute carrier family 17 (sodium phosphate), member 2 (OMIM ID: 182309) 5q35 SLIT3, SLIL2, MEGF5 (provisional) Slit, drosophila, homolog of, 3 (OMIM ID: 603745) 5q35 SNCB (provisional) Synuclein, beta (OMIM ID: 602569) 5q35.1 DRD1 (confirmed) Dopamine receptor D1 (OMIM ID: 126449) 5q35.1 STK10, LOK (provisional) Serine/threonine protein kinase-10 (OMIM ID: 603919) 5q35.1-qter FGFR4 (confirmed) Fibroblast growth factor receptor-4 (OMIM ID: 134935) 5q35.3 FLT4, VEGFR3, PCL (confirmed) fms-related tyrosine kinase-4 (vascular endothelial growth factor (OMIM ID: 136352) 5q35.3 HNRPH1 (provisional) Heterogeneous nuclear ribonucleoprotein H (OMIM ID: 601035) 5q35.3 TCF17, KID1 (provisional) Transcription factor-17 (OMIM ID: 602444) C Chr.5 CKN1 (provisional) Cockayne syndrome 1 (classical) (OMIM ID: 216400) Chr.5 DBN1 (provisional) Drebrin-1 (OMIM ID: 126660) Chr.5 HARS (provisional) Histidyl-tRNA synthetase (OMIM ID: 142810) Chr.5 ITGA1, VLA1 (tentative) Integrin, alpha-1 (OMIM ID: 192968) Chr.5 MEKK1, MEKK (provisional) MEK kinase (OMIM ID: 600982) Chr.5 RGS14 (provisional) Regulator of G protein signaling 14 (OMIM ID: 602513) Chr.5 SPINK1, PSTI (provisional) Serine protease inhibitor, Kazal type I (pancreatic secretory trypsin (OMIM ID: 167790) Chr.5 TRP3 (provisional) tRNA proline (UGG) 3 (OMIM ID: 189912) Chr.5 TRT1 (provisional) tRNA threonine (UGU) 1 (OMIM ID: 189913) Chr.5 ZNF3 (provisional) Zinc finger protein-3 (OMIM ID: 194510) 6 6pter-p24 ELANH2, EI (confirmed) Protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived (OMIM ID: 130135) 6pter-p21.1 CLPS (confirmed) Colipase, pancreatic (OMIM ID: 120105) 6pter-p21 ITPR3 (confirmed) Inositol 1,4,5-triphosphate receptor, type 3 (OMIM ID: 147267) 6pter-q12 NMOR2, NQO2 (provisional) NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2 (OMIM ID: 160998) 6p25.3 FKHL6, FREAC2 (provisional) Forkhead, drosophila, homolog-like 6 (OMIM ID: 603250) 6p25 BPHL (provisional) Biphenyl hydrolase-like (OMIM ID: 603156) 6p25 FKHL7 (confirmed) Forkhead, drosophila, homolog-like 7 (OMIM ID: 601090) 6p25 GMDS (provisional) GDP-mannose 4,6-dehydratase (OMIM ID: 602884) 6p25 IRF4, MUM1 (provisional) Interferon regulatory factor-4 (multiple myeloma oncogene-1) (OMIM ID: 602028) 6p25 PI6 (confirmed) Protease inhibitor 6 (placental thrombin inhibitor) (OMIM ID: 173321) 6p25 PI9, CAP3 (provisional) Protease inhibitor 9 (ovalbumin type)) (OMIM ID: 601799) 6p25 RREB1 (provisional) RAS-responsive element binding protein-1 (OMIM ID: 602209) 6p25-p24 F13A1, F13A (confirmed) Coagulation factor XIII, A polypeptide (OMIM ID: 134570) 6p25-p24 ME2 (provisional) Malic enzyme, mitochondrial (OMIM ID: 154270) 6p25-p23 IRF4, LSIRF (provisional) Interferon regulatory factor-4 (OMIM ID: 601900) 6p24.3 OFC1, CL (confirmed) Orofacial cleft-1 (cleft lip with or without cleft palate; isolated (OMIM ID: 119530) 6p24 DSP, KPPS2, PPKS2 (provisional) Desmoplakin (OMIM ID: 125647) 6p24 TFAP2A, AP2TF (confirmed) Transcription factor AP-2 alpha (activating enhancer-binding protein (OMIM ID: 107580) 6p24-p23 BMP6 (confirmed) Bone morphogenetic protein-6 (OMIM ID: 112266) 6p24-p23 EDN1 (confirmed) Endothelin-1 (OMIM ID: 131240) 6p24-p23 JMJ (provisional) Jumonji (OMIM ID: 601594) 6p24-p22.3 HIVEP1, ZNF40 (confirmed) Human immunodeficiency virus type I enhancer-binding protein-1 (OMIM ID: 194540) 6p23 ATX1, SCA1 (confirmed) Ataxin-1 (OMIM ID: 601556) 6p23 D6S231E, DEK (provisional) DEK gene (OMIM ID: 125264) 6p23 GMPR (confirmed) Guanine monophosphate reductase (OMIM ID: 139265) 6p23 SCZD3 (provisional) Schizophrenia susceptibility locus, chromosome 6-related (OMIM ID: 600511) 6p23-p22.3 FIM1 (provisional) Friend murine leukemia virus integration site 1, homolog of (OMIM ID: 136750) 6p23-p21.3 SLC17A1, NPT1 (provisional) Solute carrier family 17, sodium phosphate, member-1 (OMIM ID: 182308) 6p23-q12 MEA, HYS (provisional) Male-enhanced antigen (H-Y structural gene) (OMIM ID: 143170) 6p23-q12 INSL (provisional) Insulin-like DNA sequence (OMIM ID: 147490) 6p23-q12 TRMI1, TRM1, RNTMI (provisional) tRNA methionine initiator-1 (OMIM ID: 180620) 6p23-q12 TRMI2, TRM2 (provisional) tRNA methionine initiator-2 (OMIM ID: 180621) 6p22.3 SOX4 (provisional) SRY (sex determining region Y)-box 4 (OMIM ID: 184430) 6p22.3 TPMT (provisional) Thiopurine S-methyltransferase (OMIM ID: 187680) 6p22.3-p21.1 TRAN (provisional) tRNA alanine (OMIM ID: 601431) 6p22.3-p21.1 TRM1 (provisional) tRNA methionine-1 (OMIM ID: 601433) 6p22.3-p21.1 TRR3 (provisional) tRNA arginine-3 (OMIM ID: 601432) 6p22.3-p22.2 CMAH (provisional) Cytidine monophospho-N-acetylneuraminic acid hydroxylase (OMIM ID: 603209) 6p22.2-p21.3 PRL (confirmed) Prolactin (OMIM ID: 176760) 6p22 E2F3 (provisional) E2F transcription factor 3 (OMIM ID: 600427) 6p22 SSADH (provisional) Succinic semialdehyde dehydrogenase (OMIM ID: 271980) 6p22-p21.3 BTN (provisional) Butyrophilin (OMIM ID: 601610) 6p22-p21.3 H1F5 (provisional) H1 histone family, member 5 (OMIM ID: 142711) 6p22-p21.3 H4FD (provisional) H4 histone family, member D (OMIM ID: 602825) 6p22-p21.3 H4FE (provisional) H4 histone family, member E (OMIM ID: 602826) 6p22-p21.3 H4FK (provisional) H4 histone family, member K (OMIM ID: 602831) 6p22-p21.3 ID4 (provisional) Inhibitor of DNA binding 4, dominant negative helix-loop-helix (OMIM ID: 600581) 6p22-p21 BCKDHB, E1B (confirmed) Branched chain keto acid dehydrogenase E1, beta polypeptide (OMIM ID: 248611) 6p22-p21 FANCE, FACE (provisional) Fanconi anemia, complementation group E (OMIM ID: 600901) 6p22-p12 GOLGA4 (provisional) Golgi autoantigen, golgin subfamily a, 4 (OMIM ID: 602509) 6p21.33 ABC50 (provisional) ATP-binding cassette 50 (OMIM ID: 603429) 6p21.3 AGER, RAGE (provisional) Advanced glycosylation end product-specific receptor (OMIM ID: 600214) 6p21.3 AS, ANS (provisional) Ankylosing spondylitis (OMIM ID: 106300) 6p21.3 ASD1, ASD2 (provisional) Atrial septal defect, secundum type (OMIM ID: 108800) 6p21.3 B3GALT4 (provisional) Beta-3-galactosyltransferase 4 (OMIM ID: 603095) 6p21.3 BF (confirmed) Properdin factor B (OMIM ID: 138470) 6p21.3 C2 (confirmed) Complement component-2 (OMIM ID: 217000) 6p21.3 C4A, C4S (confirmed) Complement component-4A (OMIM ID: 120810) 6p21.3 C4B, C4F (confirmed) Complement component-4B (OMIM ID: 120820) 6p21.3 CDSN (provisional) Corneodesmosin (OMIM ID: 602593) 6p21.3 COL11A2 (confirmed) Collagen XI, alpha-2 polypeptide (OMIM ID: 120290) 6p21.3 CREBL1 (provisional) cAMP-responsive element-binding protein-like 1 (OMIM ID: 600984) 6p21.3 CSNK2B (confirmed) Casein kinase-2, beta polypeptide (OMIM ID: 115441) 6p21.3 CYP21, CA21H (confirmed) Cytochrome P450, subfamily XXI (steroid 21-hydroxylase) (OMIM ID: 201910) 6p21.3 D6S51E, BAT2 (provisional) HLA-B associated transcript-2 (OMIM ID: 142580) 6p21.3 D6S52E, BAT3 (provisional) HLA-B associated transcript-3 (OMIM ID: 142590) 6p21.3 D6S54E, BAT4 (provisional) HLA-B associated transcript-4 (OMIM ID: 142610) 6p21.3 D6S81E, BAT1 (provisional) HLA-B associated transcript-1 (OMIM ID: 142560) 6p21.3 D6S82E, BAT5 (provisional) HLA-B associated transcript-5 (OMIM ID: 142620) 6p21.3 D6S207E, HLA-HA2 (provisional) Minor histocompatibility antigen HA-2 (OMIM ID: 600642) 6p21.3 D6S2244E, HKE4 (provisional) Ke4 gene, mouse, human homolog of (OMIM ID: 601416) 6p21.3 D6S2245E, HKE6 (provisional) Ke6 gene, mouse, human homolog of (OMIM ID: 601417) 6p21.3 DAXX (provisional) Deat-associated protein 6 (OMIM ID: 603186) 6p21.3 DDX16, DBP2, PRP8 (confirmed) DEAD/H box 16 (OMIM ID: 603405) 6p21.3 DFNA13 (provisional) Deafness, autosomal dominant 13 (OMIM ID: 601868) 6p21.3 DYX2, DYLX2, DLX2 (provisional) Dyslexia 2 (OMIM ID: 600202) 6p21.3 GLYS1 (provisional) Renal glucosuria-1 (OMIM ID: 233100) 6p21.3 GNL1, HSR1 (provisional) Guanine nucleotide-binding protein-like 1 (OMIM ID: 143024) 6p21.3 GTF2H4 (provisional) General transcription factor IIH, polypeptide 4 (OMIM ID: 601760) 6p21.3 H1F1 (confirmed) H1 histone family, member 1 (OMIM ID: 142709) 6p21.3 H1F2 (provisional) H1 histone family, member 2 (OMIM ID: 142710) 6p21.3 H1F3 (confirmed) H1 histone family, member 3 (OMIM ID: 142210) 6p21.3 H1F4 (confirmed) H1 histone family, member 4 (OMIM ID: 142220) 6p21.3 H4FA (provisional) H4 histone family, member A (OMIM ID: 602822) 6p21.3 H4FB (provisional) H4 histone family, member B (OMIM ID: 602823) 6p21.3 H4FC (provisional) H4 histone family, member C (OMIM ID: 602824) 6p21.3 H4FG (provisional) H4 histone family, member G (OMIM ID: 602827) 6p21.3 H4FH (provisional) H4 histone family, member H (OMIM ID: 602828) 6p21.3 H4FI (provisional) H4 histone family, member I (OMIM ID: 602829) 6p21.3 H4FJ (provisional) H4 histone family, member J (OMIM ID: 602830) 6p21.3 H4FL (provisional) H4 histone family, member L (OMIM ID: 602832) 6p21.3 H4FM, H4M (provisional) Histone 4 family, member M (OMIM ID: 602833) 6p21.3 HFE (confirmed) Hemochromatosis (OMIM ID: 235200) 6p21.3 MHC (confirmed) MAJOR HISTOCOMPATIBILITY COMPLEX (OMIM ID: ) 6p21.3 HLA-A (confirmed) Major histocompatibility complex, class I, A (OMIM ID: 142800) 6p21.3 HLA-B (confirmed) Major histocompatibility complex, class I, B (OMIM ID: 142830) 6p21.3 HLA-C (confirmed) Major histocompatibility complex, class I, C (OMIM ID: 142840) 6p21.3 HLA-F, HLA-CDA12, HLAF (confirmed) Major histocompatibility complex, class I, F (OMIM ID: 143110) 6p21.3 HLA-DMA, RING6 (provisional) Major histocompatibility complex, class II, DM alpha (OMIM ID: 142855) 6p21.3 HLA-DMB, RING7 (provisional) Major histocompatibility complex, class II, DM beta (OMIM ID: 142856) 6p21.3 HLA-DOB (provisional) Major histocompatibility complex, class II, DO beta (OMIM ID: 600629) 6p21.3 HLA-DPA1, HLADP (confirmed) Major histocompatibility complex, class II, DP alpha-1 (OMIM ID: 142880) 6p21.3 HLA-DPB1 (confirmed) Major histocompatibility complex, class II, DP beta-1 (OMIM ID: 142858) 6p21.3 HLA-DQA1 (confirmed) Major histocompatibility complex, class II, DQ alpha-1 (OMIM ID: 146880) 6p21.3 HLA-DR1B (confirmed) Major histocompatibility complex, class II, DR beta-1 (OMIM ID: 142857) 6p21.3 HLA-DRA (confirmed) Major histocompatibility complex, class II, DR alpha (OMIM ID: 142860) 6p21.3 HLA-DNA (confirmed) Major histocompatibility complex, class II, DN alpha (OMIM ID: 142930) 6p21.3 HLA-E (provisional) Major histocompatibility complex, class I, E (OMIM ID: 143010) 6p21.3 HLA-G (confirmed) HLA-G histocompatibility antigen, class I (OMIM ID: 142871) 6p21.3 HMAA (provisional) Human monocyte antigen A (OMIM ID: 143070) 6p21.3 HMAB (provisional) Human monocyte antigen B (OMIM ID: 143080) 6p21.3 HSPA1A (confirmed) Heat-shock 70kD protein-1A (OMIM ID: 140550) 6p21.3 HSPA1B (provisional) Heat-shock 70kD protein-1B (OMIM ID: 603012) 6p21.3 HSPA1L (provisional) Heat-shock 70kD protein-like-1 (OMIM ID: 140559) 6p21.3 IDDM1 (tentative) Insulin-dependent diabetes mellitus-1 (OMIM ID: 222100) 6p21.3 IER3, DIF2, IEX1, PRG1, GLY96 (provisional) Immediate early response-3 (OMIM ID: 602996) 6p21.3 IGAD1 (provisional) Immunoglobulin A deficiency (OMIM ID: 137100) 6p21.3 IGLP1 (confirmed) Immune response to synthetic polypeptides-1 (OMIM ID: 147080) 6p21.3 IGLP2 (confirmed) Immune response to synthetic polypeptides-2 (OMIM ID: 147090) 6p21.3 IGAT (provisional) Immune response to synthetic polypeptide--IRGAT (OMIM ID: 146820) 6p21.3 ISCW (provisional) Immune suppression to streptococcal antigen (OMIM ID: 146850) 6p21.3 KNSL2, HSET (provisional) Kinesin-like 2 (OMIM ID: 603763) 6p21.3 LPAATA (provisional) Lysophosphatidic acid acyltransferase-alpha (OMIM ID: 603099) 6p21.3 LST1 (provisional) Leukocyte-specific transcript 1 (OMIM ID: 601000) 6p21.3 LTA, TNFB (provisional) Lymphotoxin alpha (formerly tumor necrosis factor beta) (OMIM ID: 153440) 6p21.3 LTB, TNFC (provisional) Lymphotoxin B (OMIM ID: 600978) 6p21.3 MICA (provisional) MHC class I polypeptide-related sequence A (OMIM ID: 600169) 6p21.3 MICB (provisional) MHC class I polypeptide-related sequence B (OMIM ID: 602436) 6p21.3 MLRW (provisional) Mixed lymphocyte reaction, weak (OMIM ID: 157860) 6p21.3 MLN (confirmed) Motilin (OMIM ID: 158270) 6p21.3 MOCS1, MOCOD (confirmed) Molybdenum cofactor synthesis-1 (OMIM ID: 603707) 6p21.3 MOG (confirmed) Myelin-oligodendrocyte glycoprotein (OMIM ID: 159465) 6p21.3 NEP, EDDR1, NTRK4, TRKE (provisional) Neuroepithelial tyrosine kinase (OMIM ID: 600408) 6p21.3 NEU (confirmed) Neuraminidase (OMIM ID: 256550) 6p21.3 NFKBIL1 (provisional) Nuclear factor of kappa light polypeptide gene enhancer in (OMIM ID: 601022) 6p21.3 NFYA (provisional) Transcription factor NF-Y, A subunit (OMIM ID: 189903) 6p21.3 NOTCH4, INT3 (confirmed) Notch, drosophila, homolog of, 4 (OMIM ID: 164951) 6p21.3 OLFR2 (provisional) Olfactory receptor 2 (OMIM ID: 600578) 6p21.3 OPLL (provisional) Ossification of posterior longitudinal ligament of spine (OMIM ID: 602475) 6p21.3 PBX2, HOX12, G17 (provisional) Pre-B-cell leukemia transcription factor-2 (OMIM ID: 176311) 6p21.3 PDB (tentative) Paget disease of bone (OMIM ID: 167250) 6p21.3 PHF1 (provisional) PHD finger protein-1 (OMIM ID: 602881) 6p21.3 PLT1 (confirmed) Primed lymphocyte test-1 (OMIM ID: 176680) 6p21.3 POU5F1, OTF3, OCT3 (confirmed) Pou domain, class 5, transcription factor 1 (octamer-binding (OMIM ID: 164177) 6p21.3 PPT2 (provisional) Palmitoyl-protein thioesterase-2 (OMIM ID: 603298) 6p21.3 PSMB8, LMP7, RING10 (confirmed) Proteasome subunit, beta type, 8 (large multifunctional protease-7) (OMIM ID: 177046) 6p21.3 PSMB9, LMP2, RING12 (confirmed) Proteasome subunit, beta type, 9 (OMIM ID: 177045) 6p21.3 PSORS1 (confirmed) Psoriasis susceptibility 1 (OMIM ID: 177900) 6p21.3 RAB2L (provisional) RAB2, member RAS oncogene family-like (OMIM ID: 602306) 6p21.3 RDBP (provisional) RD RNA-binding protein (OMIM ID: 154040) 6p21.3 RING1, RNF1 (provisional) RING finger protein-1 (OMIM ID: 602045) 6p21.3 RNF3, RING3 (provisional) RING finger protein -3 (OMIM ID: 601540) 6p21.3 RNF5, RING5 (provisional) RING finger protein-5 (OMIM ID: 602677) 6p21.3 RPS18 (provisional) Ribosomal protein S18 (OMIM ID: 180473) 6p21.3 RWS (tentative) Ragweed sensitivity (OMIM ID: 179450) 6p21.3 RXRB (confirmed) Retinoid X receptor, beta (OMIM ID: 180246) 6p21.3 SACM2L (provisional) Suppressor of actin mutations 2, S. cerevisiae, homolog-like (OMIM ID: 603443) 6p21.3 TAP1, RING4, PSF1 (confirmed) Transporter-1, ABC (ATP-binding cassette) (OMIM ID: 170260) 6p21.3 TAP2, RING11, PSF2 (confirmed) Transporter-2, ABC (ATP-binding cassette) (OMIM ID: 170261) 6p21.3 TAPBP, TPSN (provisional) TAP-binding protein (tapasin) (OMIM ID: 601962) 6p21.3 TCF19, SC1 (provisional) Transcription factor-19 (SC1) (OMIM ID: 600912) 6p21.3 TNF, TNFA (provisional) Tumor necrosis factor (cachectin) (OMIM ID: 191160) 6p21.3 TNXA, HXBL, TNX (confirmed) Tenascin XA (OMIM ID: 600261) 6p21.3 TUBB (confirmed) Tubulin, beta polypeptide (OMIM ID: 191130) 6p21.3 TULP1, RP14 (confirmed) Tubby-like protein-1 (OMIM ID: 602280) 6p21.3 ZNF173 (provisional) Zinc finger protein-173 (OMIM ID: 600830) 6p21.3 ZNF192 (provisional) Zinc finger protein-192 (OMIM ID: 602240) 6p21.3 ZNF193 (provisional) Zinc finger protein-193 (OMIM ID: 602246) 6p21.3 ZNF204 (provisional) Zinc finger protein-204 (OMIM ID: 603282) 6p21.3 ZNF207 (provisional) Zinc finger protein-207 (OMIM ID: 603428) 6p21.3-p21.2 BAK1 (provisional) BCL2-antagonist/killer 1 (OMIM ID: 600516) 6p21.3-p21.2 CP20 (tentative) Lymphocyte cytosolic protein, molecular weight 20kD (OMIM ID: 153380) 6p21.3-p21.2 CSBP1 (provisional) Cytokine suppressive anti-inflammatory drug binding protein 1 (OMIM ID: 600289) 6p21.3-p21.2 GLO1 (confirmed) Glyoxalase I (OMIM ID: 138750) 6p21.3-p21.2 LAP (tentative) Laryngeal adductor paralysis (OMIM ID: 150270) 6p21.3-p21.2 TCP11, D6S230E (provisional) T-complex homolog tcp-11 (OMIM ID: 186982) 6p21.3-p21.2 ZNF76, D6S229E (provisional) Zinc finger protein-76 (expressed in testis) (OMIM ID: 194549) 6p21.3-p21.1 B144 (provisional) B144 protein (OMIM ID: 109170) 6p21.3-p21.1 PGC (confirmed) Preprogastricsin (OMIM ID: 169740) 6p21.3-cen TCTE1 (provisional) T-complex-associated-testis-expressed-1 (OMIM ID: 186975) 6p21.2 PIM1 (confirmed) Oncogene PIM1 (OMIM ID: 164960) 6p21.2 CDKN1A, WAF1, CIP1, CDKN1 (confirmed) Cyclin-dependent kinase inhibitor 1A (p21, Cip1) (OMIM ID: 116899) 6p21.2-p21.1 MEP1A (confirmed) Meprin A, alpha (OMIM ID: 600388) 6p21.2-p21.1 PPARD, NUC1 (provisional) Peroxisome proliferative activated receptor, delta (OMIM ID: 600409) 6p21.2-p21.1 SLC29A1, ENT1 (provisional) Solute carrier family 29 (nucleoside transporters), member 1 (OMIM ID: 602193) 6p21.1 BYSL (provisional) By the ribosomal protein S6 gene, drosophila, homolog-like (OMIM ID: 603871) 6p21.1 GUCA1A, GCAP (provisional) Guanylate cyclase activator 1A, retina (OMIM ID: 600364) 6p21.1 GUCA1B, GCAP2, GUCA2 (provisional) Guanylate cyclase activator 1B, retina (OMIM ID: 602275) 6p21.1 PEX6, PXAAA1, PAF2 (confirmed) Peroxisomal biogenesis factor 6 (peroxisomal AAA-type ATPase 1) (OMIM ID: 601498) 6p21.1 PPIL1, CYPL1 (confirmed) Peptidylprolyl isomerase (cyclophilin)-like 1 (OMIM ID: 601301) 6p21.1 PPP2R5D (provisional) Protein phosphatase-2, regulatory subunit B (B56), delta isoform (OMIM ID: 601646) 6p21.1-p21.2 AEGL1 (provisional) Acidic epididymal glycoprotein-like 1 (OMIM ID: 601193) 6p21.1-p12.2 PTK7 (confirmed) PTK7 protein tyrosine kinase 7 (OMIM ID: 601890) 6p21.1-p12 PKHD1, ARPKD (confirmed) Polycystic kidney and hepatic disease-1 (autosomal recessive) (OMIM ID: 263200) 6p21.2-p12 PAFAH (confirmed) Platelet-activating factor acetylhydrolase (OMIM ID: 601690) 6p21.1-p11 RHAG, RH50A (confirmed) Rhesus blood group-associated glycoprotein (OMIM ID: 180297) 6p21.1-cen RDS, RP7 (confirmed) Retinal degeneration, slow (peripherin) (OMIM ID: 179605) 6p21 CBFA1, PEBP2A1, AML3 (confirmed) Core-binding factor, runt domain, alpha subunit 1 (OMIM ID: 600211) 6p21 CCND3 (confirmed) Cyclin D3 (OMIM ID: 123834) 6p21 CDC5L (provisional) Cell division cycle 5, S. pombe, homolog-like (OMIM ID: 602868) 6p21 COX6A1 (provisional) Cytochrome c oxidase, subunit VIa, polypeptide-1 (OMIM ID: 602072) 6p21 GLP1R (provisional) Glucagon-like peptide 1 receptor (OMIM ID: 138032) 6p21 HMGIY (provisional) High-mobility group (nonhistone chromosomal) protein isoforms I and Y (OMIM ID: 600701) 6p21 KCNK5, TASK2 (provisional) Potassium channel, subfamily K, member 5 (OMIM ID: 603493) 6p21 MUT, MCM (confirmed) Methylmalonyl Coenzyme A mutase (OMIM ID: 251000) 6p21 SKIV2L, SKI2, SKI2W (provisional) Superkiller viralicidic activity 2 (S. cerevisiae homolog)-like (OMIM ID: 600478) 6p21 TCFEB (tentative) T-cell transcription factor EB (OMIM ID: 600744) 6p21 ZNF165 (provisional) Zinc finger protein-165 (OMIM ID: 600834) 6p21-qter TPX1 (provisional) Testis-specific protein TPX-1 (OMIM ID: 187430) 6p12.2 GSTA1 (provisional) Glutathione S-transferase A1 (OMIM ID: 138359) 6p12.2 GSTA2, GST2 (confirmed) Glutathione S-transferase A2 (OMIM ID: 138360) 6p12 D6S1101, DMH (provisional) Dystonia musculorum of mouse, human homolog of (OMIM ID: 600088) 6p12 GLCLC (confirmed) Glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), (OMIM ID: 230450) 6p12 MCM3 (provisional) Minichromosome maintenance, S. cerevisiae, homolog of, 3 (OMIM ID: 602693) 6p12 NYS2, NYSA (provisional) Nystagmus-2, autosomal dominant (OMIM ID: 164100) 6p12 TFAP2B (provisional) Transcription factor AP-2 beta (activating enhancer-binding protein (OMIM ID: 601601) 6p12 VEGF (confirmed) Vascular endothelial growth factor (OMIM ID: 192240) 6p12 HSPCB, HSPC2 (confirmed) Heat-shock 90kD protein-1, beta (OMIM ID: 140572) 6p12-p11.1 PRIM2A (provisional) Primase polypeptide 2A (58kD) (OMIM ID: 176636) 6p12-p11.1 PRIM2B (provisional) Primase polypeptide 2B (58kD) (OMIM ID: 600741) 6p12-p11 BPAG1 (confirmed) Bullous pemphigoid antigen 1 (OMIM ID: 113810) 6p CSCI (tentative) Corticosterone side-chain isomerase (OMIM ID: 122550) 6p ICS1 (tentative) Immotile cilia syndrome-1 (OMIM ID: 242650) 6p PUJO (confirmed) Pelviureteric junction obstruction (OMIM ID: 143400) 6p RPS10 (provisional) Ribosomal protein S10 (OMIM ID: 603632) 6cen-q14 CORD7 (provisional) Cone-rod dystrophy 7 (OMIM ID: 603649) 6cen-q14 STGD3 (provisional) Stargardt disease 3 (autosomal dominant) (OMIM ID: 600110) 6p GSE, CD (provisional) Gluten-sensitive enteropathy (celiac disease) (OMIM ID: 212750) 6q MPSH (provisional) Mixed polyposis syndrome, hereditary (OMIM ID: 601228) 6q12 BAI3 (provisional) Brain-specific angiogenesis inhibitor-3 (OMIM ID: 602684) 6q12 ME1 (confirmed) Malic enzyme, cytoplasmic (OMIM ID: 154250) 6q12 PGM3 (confirmed) Phosphoglucomutase-3 (OMIM ID: 172100) 6q12-q14 COL19A1 (confirmed) Collagen XIX, alpha-1 polypeptide (OMIM ID: 600717) 6q12-q14 D6S228E, COL9A1L (provisional) DNA segment, single copy, expressed, probe COLYA1 (OMIM ID: 120165) 6q12-q21 DBI (inconsistent) Diazepam-binding inhibitor (OMIM ID: 125950) 6q13 COL9A1 (confirmed) Collagen IX, alpha-1 polypeptide (OMIM ID: 120210) 6q13 HTR1B (provisional) 5-hydroxytryptamine (serotonin) receptor-1B (OMIM ID: 182131) 6q13 MYO6 (provisional) Myosin VI (OMIM ID: 600970) 6q13-q15 IMPG1, IPM150 (provisional) Interphotoreceptor matrix proteoglycan-1 (OMIM ID: 602870) 6q13-q15 OA3, OAR (tentative) Ocular albinism, autosomal recessive (OMIM ID: 203310) 6q13-q26 SCZD5 (provisional) Schizophrenia susceptibility locus, chromosome 6q-related (OMIM ID: 603175) 6q14 EEF1A1, EF1A (provisional) Eukaryotic translation elongation factor-1, alpha-1 (OMIM ID: 130590) 6q14-q15 CNR1 (provisional) Cannabinoid receptor-1, brain (OMIM ID: 114610) 6q14-q15 HTR1E (provisional) 5-hydroxytryptamine (serotonin) receptor-1E (OMIM ID: 182132) 6q14-q15 M6P2 (provisional) Membrane component, chromosome 6, polypeptide 2 (identified by (OMIM ID: 155960) 6q14-q15 SIASD, SLD (confirmed) Sialic acid storage disease (OMIM ID: 269920) 6q14-q15 TPBG (provisional) Trophoblast glycoprotein (OMIM ID: 190920) 6q14-q16.2 PBCRA, CRAPB (provisional) Progressive bifocal chorioretinal atrophy (OMIM ID: 600790) 6q14-q16.2 MCDR1 (provisional) Macular dystrophy, retinal, 1 (North Carolina type) (OMIM ID: 136550) 6q14-q21 GABRR1 (provisional) Gamma-aminobutyric acid (GABA) A receptor, rho-1 (OMIM ID: 137161) 6q14-q21 GABRR2 (provisional) Gamma-aminobutyric acid (GABA) A receptor, rho-2 (OMIM ID: 137162) 6q14-q21 NT5 (confirmed) 5' nucleotidase (CD73) (OMIM ID: 129190) 6q14-q21 RP25 (provisional) Retinitis pigmentosa-25 (OMIM ID: 602772) 6q14-q21 TAK1 (provisional) Transforming growth factor-beta-activated kinase-1 (OMIM ID: 602614) 6q16 POU3F2, OCT7 (provisional) POU domain, class 3, transcription factor 2 (OMIM ID: 600494) 6q16 RNGTT, HCE1, CAP1A (provisional) RNA guanylyltransferase and 5'-phosphatase (OMIM ID: 603512) 6q16.3-q21 SIM1 (provisional) Single-minded, drosophila, homolog of, 1 (OMIM ID: 603128) 6q21 AIM1, ST4 (confirmed) Absent in melanoma 1 (OMIM ID: 601797) 6q21 BKMA1 (provisional) Banded krait minor satellite DNA-1 (OMIM ID: 109780) 6q21 CCNC (confirmed) Cyclin C (OMIM ID: 123838) 6q21 CD24 (provisional) CD24 antigen (OMIM ID: 600074) 6q21 CD164 (provisional) Sialomucin CD164 (OMIM ID: 603356) 6q21 FKHRL1 (provisional) Forkhead in rhabdomyosarcoma-like 1 (OMIM ID: A) 6q21 FYN (provisional) FYN oncogene related to SRC, FGR, YES (OMIM ID: 137025) 6q21 GRIK2, GLUR6 (provisional) Glutamate receptor, ionotropic, kainate 2 (OMIM ID: 138244) 6q21 IDDM15 (provisional) Insulin-dependent diabetes mellitus-15 (OMIM ID: 601666) 6q21 LAMA4, LAMA3 (provisional) Laminin, alpha-4 (OMIM ID: 600133) 6q21 REV3L, POLZ, REV3 (provisional) Rev-3, yeast, homolog-like (polymerase, DNA, zeta) (OMIM ID: 602776) 6q21 TLX (provisional) Tailless, drosophila, homolog of (OMIM ID: 603849) 6q21-q22 AMD1 (confirmed) S-adenosylmethionine decarboxylase-1 (OMIM ID: 180980) 6q21-q22.1 BLIMP1 (provisional) B-lymphocyte-induced maturation protein 1 (OMIM ID: 603423) 6q21-q22.1 GPR6 (confirmed) G protein-coupled receptor-6 (OMIM ID: 600553) 6q21-q22.3 COL10A1 (confirmed) Collagen X, alpha-1 polypeptide (OMIM ID: 120110) 6q21-q23.2 GJA1, CX43 (confirmed) Gap junction protein, alpha-1, 43kD (connexin 43) (OMIM ID: 121014) 6q21-qter NMBR (provisional) Neuromedin B receptor (OMIM ID: 162341) 6q21.1-q23 CGA (confirmed) Chorionic gonadotropin, alpha polypeptide (OMIM ID: 118850) 6q21.3 NKS1, EC1 (provisional) Susceptibility to lysis by alloreactive natural killer cells (OMIM ID: 272370) 6q22 MAK (tentative) Male germ cell-associated kinase (OMIM ID: 154235) 6q22 MYB (confirmed) Avian myeloblastosis viral (v-myb) oncogene homolog (OMIM ID: 189990) 6q22 PDNP3 (provisional) Phosphodiesterase I/nucleotide pyrophosphatase-3 (OMIM ID: 602182) 6q22 PPAC (confirmed) Progressive pseudorheumatoid arthropathy of childhood (OMIM ID: 208230) 6q22 PREP (provisional) Prolyl endopeptidase (OMIM ID: 600400) 6q22 ROS1, MCF3 (confirmed) Avian UR2 sarcoma virus oncogene (v-ros) homolog 1 (OMIM ID: 165020) 6q22-q23 EPB41L2 (provisional) Erythrocyte membrane protein band 4.1-like 2 (OMIM ID: 603237) 6q22-q23 LAMA2, LAMM (confirmed) Laminin, alpha-2 (merosin) (OMIM ID: 156225) 6q22-q23 PDNP1, NPPS, M6S1, PCA1 (provisional) Phosphodiesterase I/nucleotide pyrophosphatase 1 (homologous to mouse (OMIM ID: 173335) 6q22-q23 TDN (provisional) Triadin (OMIM ID: 603283) 6q22-q23 TNDM, DMTN (confirmed) Diabetes mellitus, transient neonatal (OMIM ID: 601410) 6q22-q23 WISP3 (provisional) Wnt-1 inducible signaling pathway protein 3 (OMIM ID: 603400) 6q22-q24 ODDD, SDTY3, ODOD (provisional) Oculodentodigital dysplasia (syndactyly type III) (OMIM ID: 164200) 6q22-q24 PEX7, RCDP1 (provisional) Peroxisomal biogenesis factor-7 (OMIM ID: 601757) 6q22.1 PLN, PLB (provisional) Phospholamban (OMIM ID: 172405) 6q22.2 MACS, PKCSL (confirmed) Myristoylated alanine-rich protein kinase C substrate (MARCKS, (OMIM ID: 177061) 6q22.3-q23.1 HPFH (provisional) Hereditary persistence of fetal hemoglobin, heterocellular (OMIM ID: 142470) 6q22.2-q23.3 DFNA10 (provisional) Deafness, autosomal nonsyndromic sensorineural, 10 (OMIM ID: 601316) 6q22.2-q22.3 PTPRK (confirmed) Protein-tyrosine phosphatase, receptor type, kappa (OMIM ID: 602545) 6q22.33 MEKK5, MAPKKK5, ASK1 (provisional) Map/ERK kinase kinase-5 (OMIM ID: 602448) 6q22.3-q24 PCMT1 (provisional) Protein-L-isoaspartate (D-aspartate) O-methyltransferase (OMIM ID: 176851) 6q23 ARG1 (provisional) Arginase, liver (OMIM ID: 207800) 6q23 CMD1F, CDCD3 (provisional) Cardiomyopathy, dilated-1F, autosomal dominant (OMIM ID: 602067) 6q23 EYA4 (provisional) Eyes absent, Drosophila, homolog of, 4 (OMIM ID: 603550) 6q23 SGK (provisional) Serum/glucocorticoid-regulated kinase (OMIM ID: 602958) 6q23 STL (provisional) Six-twelve leukemia gene (OMIM ID: 602532) 6q23-q24 HIVEP2 (provisional) Human immunodeficiency virus type I enhancer-binding protein-2 (OMIM ID: 143054) 6q23-q24 IFNGR1 (confirmed) Immune interferon, receptor for (OMIM ID: 107470) 6q23-q24 NTT (provisional) Noncoding transcript in T cells (OMIM ID: 602154) 6q23-q24 TCF21, POD1 (tentative) Transcription factor-21 (epicardin; podocyte-expressed 1) (OMIM ID: 603306) 6q23-q24 VNN1 (provisional) Vanin 1 (OMIM ID: 603570) 6q23-q24 VNN2 (provisional) Vanin 2 (OMIM ID: 603571) 6q23.1 CTGF, NOV2 (provisional) Connective tissue growth factor (OMIM ID: 121009) 6q24 EPM2A, MELF, EPM2 (confirmed) Laforin (OMIM ID: 254780) 6q24 UTRN, DMDL, DRP1 (confirmed) Utrophin (homologous to dystrophin) (OMIM ID: 128240) 6q24-q25 OPRM1 (confirmed) Opioid receptor, mu-1 (OMIM ID: 600018) 6q24-q25 PLAGL1, ZAC, LOT1 (provisional) Pleomorphic adenoma gene-like 1 (ZAC tumor supressor) (OMIM ID: 603044) 6q24-q27 IDDM5 (provisional) Insulin-dependent diabetes mellitus-5 (OMIM ID: 600320) 6q24-q27 MAS1 (confirmed) Oncogene MAS1 (OMIM ID: 165180) 6q25-q26 RCD1 (tentative) Retinal cone dystrophy-1 (OMIM ID: 180020) 6q25-q26 VIL2, CVL (confirmed) Villin-2 (cytovillin) (OMIM ID: 123900) 6q25-q27 IDDM8 (provisional) Insulin-dependent diabetes mellitus-8 (OMIM ID: 600883) 6q25-qter FUCA2 (confirmed) Fucosidase, alpha-L- 2, plasma (OMIM ID: 136820) 6q25.1 ESR1, ESR (confirmed) Estrogen receptor 1 (OMIM ID: 133430) 6q25.2-q25.3 TCTEL1 (provisional) T-complex-associated-testis-expressed 1-like 1 (OMIM ID: 601554) 6q25.2-q27 PRKN, PARK2, PDJ (confirmed) Parkin (OMIM ID: 602544) 6q25.3 SOD2 (confirmed) Superoxide dismutase-2, mitochondrial (OMIM ID: 147460) 6q25.3-q26 ACAT2 (provisional) Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A (OMIM ID: 100678) 6q25.3-q26 HNRPH2 (tentative) Heterogeneous nuclear ribonucleoprotein H' (OMIM ID: 601036) 6q25.3-q26 TCP1 (confirmed) T-complex locus TCP-1 (OMIM ID: 186980) 6q26 IGF2R, MPRI (confirmed) Insulin-like growth factor-2 receptor (mannose-6-phosphate receptor, (OMIM ID: 147280) 6q26 PLG (confirmed) Plasminogen (OMIM ID: 173350) 6q26 SLC22A1, OCT1 (provisional) Solute carrier family 22 (organic cation transporter), member 1 (OMIM ID: 602607) 6q26 SLC22A2, OCT2 (provisional) Solute carrier family 22 (organic cation transporter), member 2 (OMIM ID: 602608) 6q26-q27 ST8, OVCS (provisional) Suppression of tumorigenicity-8, ovarian (OMIM ID: 167000) 6q26-q27 VIP (confirmed) Vasoactive intestinal peptide (OMIM ID: 192320) 6q27 CMKBR6, CKRL3, GPR29, GPRCY4 (provisional) Chemokine (C-C) receptor 6 (OMIM ID: 601835) 6q27 GPR31 (provisional) G protein-coupled receptor-31 (OMIM ID: 602043) 6q27 KNSL3 (provisional) Kinesin-like 3 (OMIM ID: 603815) 6q27 LPA (confirmed) Apolipoprotein Lp(a) (OMIM ID: 152200) 6q27 MLLT4, AF6 (confirmed) Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 4 (OMIM ID: 159559) 6q27 PDCD2 (provisional) Programmed cell death 2 (OMIM ID: 600866) 6q27 PSMA2, PSC2, HC3 (provisional) Proteasome (prosome, macropain) subunit, alpha type, 2 (OMIM ID: 176842) 6q27 RPS6KA2, RSK3 (provisional) Ribosomal protein S6 kinase, 90kD, 2 (OMIM ID: 601685) 6q27 T, TFT (provisional) Brachyury (mouse) homolog (OMIM ID: 601397) 6q27 TBP (confirmed) TATA box binding protein (OMIM ID: 600075) 6q27 TCTE3 (provisional) T-complex-associated-testis-expressed-3 (OMIM ID: 186977) 6q27 THBS2 (provisional) Thrombospondin 2 (OMIM ID: 188061) 6q27 TCP10 (confirmed) T-complex 10 (a murine tcp homolog) (OMIM ID: 187020) C Chr.6 ADCP1 (inconsistent) Adenosine deaminase complexing protein-1 (OMIM ID: 102710) Chr.6 BEVI (confirmed) Baboon M7 virus replication (OMIM ID: 109180) Chr.6 BMP5 (provisional) Bone morphogenetic protein-5 (OMIM ID: 112265) Chr.6 COL12A1L (provisional) Collagen XII, alpha 1-like (OMIM ID: 120321) Chr.6 DPAGT2, DGPT (tentative) UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase (OMIM ID: 191350) Chr.6 FEA (tentative) F9 embryonic antigen (OMIM ID: 137010) Chr.6 GCNT2 (provisional) Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (OMIM ID: 600429) Chr.6 LAKL (provisional) Lymphokine-activated killer cell ligand (OMIM ID: 153435) Chr.6 MEKK4, MTK1, MAPKKK4 (provisional) MAP/ERK kinase kinase-4 (OMIM ID: 602425) Chr.6 MRBC (provisional) Monkey RBC receptor (OMIM ID: 158050) Chr.6 P (provisional) P blood group globoside (OMIM ID: 111400) Chr.6 PBCA (provisional) Pancreatic beta cell, agenesis of (OMIM ID: 600089) Chr.6 PER2 (provisional) Period, drosophila, homolog of, 2 (OMIM ID: 603426) Chr.6 RFP (provisional) RET finger protein (OMIM ID: 602165) Chr.6 SNRPC (provisional) Small nuclear ribonucleoprotein polypeptide C (OMIM ID: 603522) Chr.6 STX7 (provisional) Syntaxin 7 (OMIM ID: 603217) Chr.6 SYNGAP (provisional) GTPase-activating protein, Ras, synaptic, 135-kD, rat, homolog of (OMIM ID: 603384) Chr.6 TS546 (provisional) Temperature sensitivity complementation, cell cycle specific, (OMIM ID: 187330) 7 7pter-p22 PRKAR1B (provisional) Protein kinase, cAMP-dependent, regulatory, type I, beta (OMIM ID: 176911) 7pter-p14 GCTG (provisional) Gamma-glutamylcyclotransferase (OMIM ID: 137170) 7pter-p13 CALML1 (provisional) Calmodulin-like 1 (OMIM ID: 114181) 7p22 CMKRL2, GPR30 (provisional) Chemokine receptor-like 2 (OMIM ID: 601805) 7p22 ETV1 (provisional) ETS variant gene-1 (OMIM ID: 600541) 7p22 ICA1 (provisional) Islet cell autoantigen 1 (69kD) (OMIM ID: 147625) 7p22 JTV1 (provisional) JTV1 gene (OMIM ID: 600859) 7p22 LFNG (provisional) Lunatic fringe (OMIM ID: 602576) 7p22 MAD1L1, TXBP181 (provisional) Mitotic arrest-deficient 1, yeast, homolog-like 1 (OMIM ID: 602686) 7p22 MTH1 (provisional) mutT (E. coli) human homolog (8-oxo-7,8-dihydroguanosine (OMIM ID: 600312) 7p22 PDGFA (confirmed) Platelet-derived growth factor, alpha polypeptide (OMIM ID: 173430) 7p22 PMS2, PMSL2 (provisional) Postmeiotic segregation increased (S. cerevisiae) 2 (OMIM ID: 600259) 7p22 RPA3 (provisional) Replication protein A3 (14kD) (OMIM ID: 179837) 7p22 SNL (provisional) Singed, drosophila, homolog-like (OMIM ID: 602689) 7p22-p21 ZNF12 (provisional) Zinc finger protein-12 (KOX3) (OMIM ID: 194536) 7p22-p15 RALA (provisional) RAS-like protein A; Simian leukemia viral (v-ral) oncogene homolog (OMIM ID: 179550) 7p22-p12 ACTB (confirmed) Actin, beta (OMIM ID: 102630) 7p22.1-p21.3 MEOX2 (provisional) Mesenchyme homeo box 2 (OMIM ID: 600535) 7p21.3-p21.2 CRS, CSO (confirmed) Craniosynostosis, type I (OMIM ID: 123100) 7p21 IL6, IFNB2, BSF2 (confirmed) Interleukin-6 (interferon, beta-2) (OMIM ID: 147620) 7p21 TWIST, ACS3, SCS (confirmed) TWIST, drosophila, homolog of (OMIM ID: 601622) 7p21-p15 CRHR2, CRFR2 (provisional) Corticotropin releasing hormone receptor-2 (OMIM ID: 602034) 7p21-p15 MDDC (provisional) Macular dystrophy, dominant cystoid (OMIM ID: 153880) 7p21-p13 BPES2 (provisional) Blepharophimosis, epicanthus inversus, and ptosis 2 (OMIM ID: 601649) 7p15.3 CHN2, ARHGAP3, RHOGAP3 (provisional) Chimerin 2 (GTPase-activating protein, rho, 3) (OMIM ID: 602857) 7p15.2-p15.1 PSP (confirmed) Phosphoserine phosphatase (OMIM ID: 172480) 7p15.1 NPY (confirmed) Neuropeptide Y (OMIM ID: 162640) 7p15.1-p13 RP9 (provisional) Retinitis pigmentosa-9 (OMIM ID: 180104) 7p15 AHR (confirmed) Aryl hydrocarbon receptor (OMIM ID: 600253) 7p15 DFNA5 (confirmed) Deafness, autosomal dominant 5 (OMIM ID: 600994) 7p15 DNAHBL (provisional) Dynein, heavy chain beta-like (OMIM ID: 603299) 7p15 GARS (provisional) Glycyl-tRNA synthetase (OMIM ID: 600287) 7p15 HNRPA2B1 (provisional) Heterogeneous nuclear ribonucleoprotein A2/B1 (OMIM ID: 600124) 7p15 MYCLK1 (provisional) Avian myelocytomatosis viral (v-myc) oncogene homolog like 1 (OMIM ID: 164865) 7p15 SP4 (provisional) Sp4 transcription factor (OMIM ID: 600540) 7p15-p14 GHRHR (confirmed) Growth hormone releasing hormone receptor (OMIM ID: 139191) 7p15-p14.2 HOXA@, HOX1@ (confirmed) HOMEO BOX A CLUSTER (OMIM ID: ) 7p15-p14.2 HOXA1, HOX1F (tentative) Homeo box-A1 (OMIM ID: 142955) 7p15-p14.2 HOXA3, HOX1E (tentative) Homeo box-A3 (OMIM ID: 142954) 7p15-p14.2 HOXA4, HOX1D (confirmed) Homeo box-A4 (OMIM ID: 142953) 7p15-p14.2 HOXA5, HOX1C (confirmed) Homeo box-A5 (OMIM ID: 142952) 7p15-p14.2 HOXA6, HOX1B (confirmed) Homeo box-A6 (OMIM ID: 142951) 7p15-p14.2 HOXA7, HOX1A (confirmed) Homeo box-A7 (OMIM ID: 142950) 7p15-p14.2 HOXA9, HOX1G (confirmed) Homeo box-A9 (OMIM ID: 142956) 7p15-p14.2 HOXA10, HOX1H (confirmed) Homeo box-A10 (OMIM ID: 142957) 7p15-p14.2 HOXA11, HOX1I (confirmed) Homeo box-A11 (OMIM ID: 142958) 7p15-p14.2 HOXA13, HOX1J (confirmed) Homeo box-A13 (OMIM ID: 142959) 7p15-p14 EVX1 (provisional) Even-skipped homeo box-1 (homolog of Drosophila) (OMIM ID: 142996) 7p15-p14 TCRG (confirmed) T-cell antigen receptor, gamma polypeptide (OMIM ID: 186970) 7p15-p13 CCM2 (provisional) Cerebral cavernous malformations-2 (OMIM ID: 603284) 7p15-p13 GCK (confirmed) Glucokinase (hexokinase-4) (OMIM ID: 138079) 7p15-p13 INHBA (provisional) Inhibin, beta-1 (OMIM ID: 147290) 7p15-p11.2 WTSL, WT5 (confirmed) Wilms tumor suppressor locus (OMIM ID: 601583) 7p15-q22.1 ERV3 (provisional) Endogenous retroviral sequence-3 (includes zinc finger protein H-plk) (OMIM ID: 131170) 7p14 ADCYAP1R1, PACAPR (confirmed) Adenylate cyclase activating polypeptide-1 (pituitary) receptor type 1 (OMIM ID: 102981) 7p14 AQP1, CHIP28, CO (confirmed) Aquaporin-1 (channel-forming integral protein, 28kD) (OMIM ID: 107776) 7p14 CMT2D (confirmed) Charcot-Marie-Tooth neuropathy, neuronal type, D (OMIM ID: 601472) 7p14-p13 AMPH (provisional) Amphiphysin (OMIM ID: 600418) 7p14-p13 OGDH (confirmed) Oxoglutarate dehydrogenase (lipoamide) (OMIM ID: 203740) 7p14-p12 AOAH (provisional) Acyloxyacyl hydrolase (neutrophil) (OMIM ID: 102593) 7p14-p12 IGFBP1 (confirmed) Insulin-like growth factor-binding protein-1 (OMIM ID: 146730) 7p14-p12 IGFBP3 (confirmed) Insulin-like growth factor-binding protein-3 (OMIM ID: 146732) 7p14-cen BLVRA (confirmed) Biliverdin reductase A (OMIM ID: 109750) 7p13 GLI3, PAPA (confirmed) GLI-Kruppel family member GLI3 (oncogene GLI3) (OMIM ID: 165240) 7p13 PPIA (confirmed) Peptidylprolyl isomerase A (cyclophilin A) (OMIM ID: 123840) 7p13-p12.3 PGAM2, PGAMM (confirmed) Phosphoglycerate mutase, muscle form (OMIM ID: 261670) 7p13-p12 ADCY1 (confirmed) Adenylate cyclase-1, brain (OMIM ID: 103072) 7p13-p12 HUS1 (provisional) Hydroxyurea-sensitive 1, S. pombe, homolog of (OMIM ID: 603760) 7p13-p12 PSMB1 (provisional) Proteasome (prosome, macropain) subunit, beta type, 1 (OMIM ID: 602017) 7p13-p11.1 IK1, LYF1 (provisional) Ikaros (OMIM ID: 603023) 7p13-p11 OCM (provisional) Oncomodulin (OMIM ID: 164795) 7p12.3-p12.1 EGFR (confirmed) Epidermal growth factor receptor (OMIM ID: 131550) 7p12 GBAS, NIPSNAP2 (provisional) Glioblastoma amplified sequence (OMIM ID: 603004) 7p12-p11.2 GRB10 (confirmed) Growth factor receptor-bound protein-10 (OMIM ID: 601523) 7p12-p11.2 PPP2R5E (provisional) Protein phosphatase-2, regulatory subunit B (B56), epsilon isoform (OMIM ID: 601647) 7p12-cen TTIM1 (confirmed) T-cell tumor invasion and metastasis-1 (invasion-metastasis of (OMIM ID: 147830) 7p12-q21 PHKG1 (provisional) Phosphorylase kinase, gamma 1 (muscle) (OMIM ID: 172470) 7p11.4-cen ARAF2, PKS1 (confirmed) Oncogene ARAF2 (OMIM ID: 164710) 7p11-q11.2 PKS1 (provisional) Oncogene PKS1 (OMIM ID: 165010) 7p11 DDC (confirmed) DOPA decarboxylase (aromatic L-amino acid decarboxylase) (OMIM ID: 107930) 7p GHS (tentative) Goldenhar syndrome (OMIM ID: 141400) 7p SMAD1 (provisional) Spinal muscular atrophy, distal, with upper limb predominance (OMIM ID: 600794) 7p TCF6L1, MTTF1 (provisional) Transcription factor 6-like 1 (mitochondrial transcription factor (OMIM ID: 157670) 7cen-q11.2 ASL (confirmed) Argininosuccinate lyase (OMIM ID: 207900) 7cen-q22 MDH2 (confirmed) Malate dehydrogenase, mitochondrial (OMIM ID: 154100) 7q AUT (provisional) Autism, susceptibility to (OMIM ID: 209850) 7q HRX (provisional) Hyperreflexia (OMIM ID: 145290) 7q HSPB1, HSP27 (provisional) Heat-shock 27kD protein-1 (OMIM ID: 602195) 7q LGMD1D (provisional) Limb-girdle muscular dystrophy-1D, autosomal dominant (OMIM ID: 603511) 7q NFE2U (tentative) Nuclear factor erythroid-2, ubiquitous (p18) (OMIM ID: 600197) 7q PTC (provisional) Phenylthiocarbamide taste (OMIM ID: 171200) 7q11 CLDN3, CPETR2 (provisional) Claudin-3 (Clostridium perfringens enterotoxin receptor 2) (OMIM ID: 602910) 7q11.2 CD36 (provisional) CD36 antigen (collagen type I) (OMIM ID: 173510) 7q11.2 ELN (confirmed) Elastin (OMIM ID: 130160) 7q11.2 POR (provisional) Cytochrome P-450 reductase (OMIM ID: 124015) 7q11.2 SKP1A (provisional) S-phase kinase-associated protein 1A (p19A) (OMIM ID: 601434) 7q11.2 STX1A, STX1 (provisional) Syntaxin 1A, brain (OMIM ID: 186590) 7q11.2 ZNF117 (provisional) Zinc finger protein-117 (OMIM ID: 194624) 7q11.2-q21 CCM1, CAM (confirmed) Cerebral cavernous malformations-1 (OMIM ID: 116860) 7q11.2-q21.3 EEC1 (tentative) Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1 (OMIM ID: 129900) 7q11.21 GABPB1, E4TF1B (provisional) GA-binding protein transcription factor, beta subunit 1 (53kD) (OMIM ID: 600610) 7q11.23 CRIP1, CRIP (provisional) Cysteine-rich intestinal protein 1 (OMIM ID: 123875) 7q11.23 CYLN2, WBSCR4, WSCR4 (provisional) Cytoplasmic linker 2 (OMIM ID: 603432) 7q11.23 FZD3 (provisional) Frizzled, Drosophila, human homolog of (OMIM ID: 601766) 7q11.23 GTF2I, BAP135 (provisional) General transcription factor II-I (BTK-associated protein, 135kD) (OMIM ID: 601679) 7q11.23 HIP1 (confirmed) Huntingtin interacting protein-1 (OMIM ID: 601767) 7q11.23 LIMK1 (confirmed) LIM domain kinase 1 (OMIM ID: 601329) 7q11.23 NCF1 (provisional) Neutrophil cytosolic factor-1 (47kD) (OMIM ID: 233700) 7q11.23 PTPN12, PTPG1 (provisional) Protein tyrosine phosphatase, non-receptor type 12 (OMIM ID: 600079) 7q11.23 RFC2 (provisional) Replication factor C (activator 1) 2 (40kD) (OMIM ID: 600404) 7q11.23 SCYA24, MPIF2 (confirmed) Small inducible cytokine subfamily A, member 24 (OMIM ID: 602495) 7q11.23 WBSCR1, WSCR1, EIF4H (provisional) Williams-Beuren syndrome chromosome region 1 (OMIM ID: 603431) 7q11.23 ZP3A (confirmed) Zona pellucida glycoprotein-3A (sperm receptor) (OMIM ID: 182889) 7q21 EPO (confirmed) Erythropoietin (OMIM ID: 133170) 7q21 FZD1 (provisional) Frizzled, drosophila, homolog of, 1 (OMIM ID: 603408) 7q21 GNAI1 (confirmed) Guanine nucleotide-binding protein (G protein), alpha-inhibiting (OMIM ID: 139310) 7q21-q22 CACNA2, CACNL2A (confirmed) Calcium channel, voltage-dependent, L type, alpha2/delta subunit (OMIM ID: 114204) 7q21-q22 CDK6, PLSTIRE (confirmed) Cyclin-dependent kinase 6 (OMIM ID: 603368) 7q21-q22 MHS3 (provisional) Malignant hyperthermia susceptibility 3 (OMIM ID: 154276) 7q21-q22 MTERF (provisional) Transcription termination factor, mitochondrial (OMIM ID: 602318) 7q21-q22 PEX1, ZWS1 (confirmed) Peroxisome biogenesis factor-1 (OMIM ID: 602136) 7q21-q22 TAC2, NKNA (confirmed) Tachykinin 2 (substance K; neurokinin A, neurokinin 2, neuromedin L, (OMIM ID: 162320) 7q21-q22 ZNF36, KOX18 (provisional) Zinc finger protein-36 (KOX 18) (OMIM ID: 601260) 7q21-q22 ZNF38, KOX25 (provisional) Zinc finger protein-38 (KOX 25) (OMIM ID: 601261) 7q21-q27 GNB2 (confirmed) Guanine nucleotide-binding protein, beta polypeptide-2 (OMIM ID: 139390) 7q21-q31 ASNS (confirmed) Asparagine synthetase (OMIM ID: 108370) 7q21.1 HGF (confirmed) Hepatic growth factor (OMIM ID: 142409) 7q21.1 PGY1, MDR1 (confirmed) P-glycoprotein-1/multiple drug resistance-1 (OMIM ID: 171050) 7q21.1 PGY3, MDR3 (provisional) P-glycoprotein-3/multiple drug resistance-3 (OMIM ID: 171060) 7q21.1 SRI, SCN (provisional) Sorcin (class 4 gene) (OMIM ID: 182520) 7q21.1-q21.2 GRM3 (provisional) Glutamate receptor, metabotropic-3 (OMIM ID: 601115) 7q21.11 GUSB (confirmed) Glucuronidase, beta- (OMIM ID: 253220) 7q21.2-q21.3 CYP51 (provisional) Cytochrome P450, 51 (lanosterol 14-alpha-demethylase) (OMIM ID: 601637) 7q21.2-q21.3 SHFM1, SHFD1, SHSF1 (confirmed) Split hand/foot malformation (ectrodactyly) type 1 (OMIM ID: 183600) 7q21.2-q22.1 TRRAP (provisional) Transformation/transcription domain-associated protein (OMIM ID: 603015) 7q21.3 CALCR, CRT (confirmed) Calcitonin receptor (OMIM ID: 114131) 7q21.3 GNGT1 (provisional) Guanine nucleotide-binding protein, gamma-transducing activity (OMIM ID: 189970) 7q21.3 PON1, PON, ESA (confirmed) Paraoxonase (OMIM ID: 168820) 7q21.3 PON2 (confirmed) Paraoxonase-2 (OMIM ID: 602447) 7q21.3 PON3 (confirmed) Paraoxonase-3 (OMIM ID: 602720) 7q21.3 SLC25A13, CTLN2 (provisional) Solute carrier family 25 (mitochondrial carrier, citrin), member 13 (OMIM ID: 603859) 7q21.3-q22 PCOLCE (provisional) Procollagen C-endopeptidase enhancer (OMIM ID: 600270) 7q21.3-q22 PAI1, PLANH1 (confirmed) Plasminogen activator inhibitor, type I (OMIM ID: 173360) 7q21.3-q22.1 DNCI1 (provisional) Dynein, cytoplasmic, intermediate chain 1 (OMIM ID: 603772) 7q21.3-q22.1 DSS1 (provisional) Deleted in split-hand/split-foot 1 region (OMIM ID: 601285) 7q21.3-q22.1 MCM7, MCM2 (provisional) Minichromosome maintenance deficient (S. cerevisiae) 7 (OMIM ID: 600592) 7q21.3-q22.1 NPTX2 (provisional) Pentraxin II (OMIM ID: 600750) 7q21.3-q22.1 PDK4 (provisional) Pyruvate dehydrogenase kinase, isoenzyme 4 (OMIM ID: 602527) 7q22 ACHE, YT (confirmed) Acetylcholinesterase (YT blood group) (OMIM ID: 100740) 7q22 CUTL1 (provisional) Cut (Drosophila)-like 1 (OMIM ID: 116896) 7q22 DLX5 (confirmed) Distal-less homeo box-5 (OMIM ID: 600028) 7q22 DLX6 (provisional) Distal-less homeo box-6 (OMIM ID: 600030) 7q22 H2A (provisional) Histone IIa (OMIM ID: 142720) 7q22 H2B (provisional) Histone IIb (OMIM ID: 142760) 7q22 MUC3 (provisional) Mucin 3, intestinal (OMIM ID: 158371) 7q22 PRKAR2B (confirmed) Protein kinase, cAMP-dependent, regulatory, type II, beta (OMIM ID: 176912) 7q22 RELN, RL (confirmed) Reelin (OMIM ID: 600514) 7q22 TFPI2 (provisional) Tissue factor pathway inhibitor-2 (OMIM ID: 600033) 7q22 TRIP6, OIP1 (provisional) Thyroid hormone receptor interactor-6 (OMIM ID: 602933) 7q22 VGF (provisional) VGF nerve growth factor inducible (OMIM ID: 602186) 7q22 ZAN (provisional) Zonadhesin (OMIM ID: 602372) 7q22-q31 IFRD1 (provisional) Interferon-related developmental regulator 1 (OMIM ID: 603502) 7q22-q31.1 DRA, CLD (confirmed) Down-regulated in adenoma (OMIM ID: 126650) 7q22-q31.1 GPR22 (provisional) G protein-coupled receptor-22 (OMIM ID: 601910) 7q22-q31.1 MPPB (provisional) Mitochondrial processing peptidase-beta (OMIM ID: 603131) 7q22-q32 G7P1 (provisional) Kinase-like protein (OMIM ID: 148750) 7q22-qter NM, GP130 (confirmed) Neutrophil migration (granulocyte glycoprotein) (OMIM ID: 162820) 7q22.1 AZGP1, ZAG (confirmed) Alpha-2-glycoprotein, zinc (OMIM ID: 194460) 7q22.1 COL1A2 (confirmed) Collagen I, alpha-2 polypeptide (OMIM ID: 120160) 7q22.1 CYP3A4 (confirmed) Cytochrome P450, subfamily IIIA (nifedipine oxidase) polypeptide 4 (OMIM ID: 124010) 7q22.1 ORC5L (provisional) Origin recognition complex, subunit 5-like, yeast, homolog of (OMIM ID: 602331) 7q22.1-q22.3 PSMC2, MSS1, S7 (provisional) Proteasome 26S subunit, ATPase, 2 (OMIM ID: 154365) 7q3 CMH6 (provisional) Cardiomyopathy, hypertrophic 6 (OMIM ID: 600858) 7q31 CHST2 (inconsistent) Carbohydrate sulfotransferase-2 (GlcNAc-6-O-sulfotransferase; (OMIM ID: 603798) 7q31 DFNB14 (provisional) Deafness, autosomal recessive 14 (OMIM ID: 603678) 7q31 DFNB17 (provisional) Deafness, autosomal recessive 17 (OMIM ID: 603010) 7q31 GPR37 (provisional) G protein-coupled receptor-37 (OMIM ID: 602583) 7q31 MET (confirmed) Oncogene MET (OMIM ID: 164860) 7q31 PDS, DFNB4 (confirmed) Pendrin (OMIM ID: 274600) 7q31 SPAM1 (provisional) Sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida (OMIM ID: 600930) 7q31 SPCH1 (provisional) Speech-language disorder-1 (OMIM ID: 602081) 7q31 WNT2, INT1L1 (provisional) Wingless-type MMTV integration site family, member 2 (OMIM ID: 147870) 7q31-q32 ABP1 (provisional) Amiloride-binding protein-1 (OMIM ID: 104610) 7q31-q32 DLD, LAD, PHE3 (confirmed) Dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase (OMIM ID: 246900) 7q31-q32 SMOH, SMO (provisional) Smoothened, drosophila, homolog of (OMIM ID: 601500) 7q31-q34 BPGM (provisional) 2,3-bisphosphoglycerate mutase (OMIM ID: 222800) 7q31-q35 RP10 (confirmed) Retinitis pigmentosa-10 (autosomal dominant) (OMIM ID: 180105) 7q31.1 CAV1 (provisional) Caveolin-1 (OMIM ID: 601047) 7q31.1 CAV2 (provisional) Caveolin-2 (OMIM ID: 601048) 7q31.1 TSG7 (provisional) Suppression of tumorigenicity 7 (breast) (OMIM ID: 600833) 7q31.1-q31.2 NRCAM (provisional) Neuronal cell adhesion molecule (OMIM ID: 601581) 7q31.1-q31.3 LAMB1 (confirmed) Laminin, beta-1 (OMIM ID: 150240) 7q31.2 CFTR, CF (confirmed) Cystic fibrosis transmembrane conductance regulator (OMIM ID: 602421) 7q31.2-q31.3 CAPZA2, CAPPA2 (provisional) Capping protein (actin filament) muscle Z-line, alpha 2 (OMIM ID: 601571) 7q31.3 ARF5 (provisional) ADP-ribosylation factor 5 (OMIM ID: 103188) 7q31.3 LEP, OB (confirmed) Leptin (murine obesity homolog) (OMIM ID: 164160) 7q31.3 PTPRZ1, PTP18 (provisional) Protein-tyrosine phosphatase, receptor-type, zeta-1, polypeptide (OMIM ID: 176891) 7q31.3-q32 BCP, CBT (confirmed) Blue cone pigment (OMIM ID: 190900) 7q31.3-q32 IMPDH1 (provisional) IMP (inosine monophosphate) dehydrogenase 1 (OMIM ID: 146690) 7q31.3-q32.1 GRM8 (provisional) Glutamate receptor, metabotropic-8 (OMIM ID: 601116) 7q32 MEST, PEG1 (confirmed) Mesoderm specific transcript (mouse) homolog (OMIM ID: 601029) 7q32 CALU (provisional) Calumenin (OMIM ID: 603420) 7q32 NDUFA5, UQOR13 (provisional) NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13) (OMIM ID: 601677) 7q32 NRF1 (confirmed) Nuclear respiratory factor 1 (OMIM ID: 600879) 7q32 PAX4 (confirmed) Paired box homeotic gene-4 (OMIM ID: 167413) 7q32-q33 PODXL, PCLP (provisional) Podocalyxin-like (OMIM ID: 602632) 7q32-q35 FLN2, ABPA (confirmed) Filamin-2 (actin-binding protein-280) (OMIM ID: 102565) 7q32-q36 EPHA1, EPHT1 (confirmed) eph tyrosine kinase 1 (erythropoietin-producing hepatoma amplified (OMIM ID: 179610) 7q32-q36 PIP (provisional) Prolactin-inducible protein (OMIM ID: 176720) 4 4q33-qter HCA (provisional) Hypercalciuria, absorptive (OMIM ID: 143870) 7 7q32-qter CPA1 (confirmed) Carboxypeptidase A (OMIM ID: 114850) 7q33 CALD1, CDM (provisional) Caldesmon-1 (OMIM ID: 114213) 7q33 KEL (confirmed) Kell blood group (OMIM ID: 110900) 7q33 PTN, NEGF1 (confirmed) Pleiotrophin (heparin binding growth factor 8, neurite (OMIM ID: 162095) 7q33-q35 EPHB6, HEP (provisional) Ephrin receptor EPHB6 (OMIM ID: 602757) 7q33-q35 TIM (provisional) Oncogene TIM (OMIM ID: 600888) 7q34 BRAF (confirmed) Murine sarcoma viral (v-raf) oncogene homolog B1 (OMIM ID: 164757) 7q34 ERH (provisional) Enhancer of rudimentary, Drosophila, homolog of (OMIM ID: 601191) 7q34 SSBP (provisional) Single-stranded DNA-binding protein (OMIM ID: 600439) 7q34 TBXAS1 (confirmed) Thromboxane A synthase 1 (platelet) (OMIM ID: 274180) 7q34-q35 ZYX (confirmed) Zyxin (OMIM ID: 602002) 7q34-q36 DFNB13 (provisional) Deafness, autosomal recessive 13 (OMIM ID: 603098) 7q35 ALDR1 (provisional) Aldehyde reductase-1 (low Km aldose reductase) (OMIM ID: 103880) 7q35 CLCN1 (provisional) Chloride channel-1, skeletal muscle (OMIM ID: 118425) 7q35 CASP2, NEDD2, ICH1 (confirmed) Caspase 2, apoptosis-related cysteine protease (neural precursor cell (OMIM ID: 600639) 7q35-q36 GLC1F (provisional) Glaucoma 1, open angle, F (OMIM ID: 603383) 7q35 PRSS1, TRY1 (confirmed) Protease, serine, 1 (trypsin 1) (OMIM ID: 276000) 7q35 PRSS2, TRY2 (confirmed) Protease, serine, 2 (trypsin 2) (OMIM ID: 601564) 7q35 TCRB (confirmed) T-cell antigen receptor, beta polypeptide (OMIM ID: 186930) 7q35-q36 CHRM2 (confirmed) Cholinergic receptor, muscarinic, 2 (OMIM ID: 118493) 7q35-q36 D7S437, MS3315 (provisional) Minisatellite 33.15 (OMIM ID: 157570) 7q35-q36 GPDS1, PDS1 (provisional) Glaucoma-related pigment dispersion syndrome-1 (OMIM ID: 600510) 7q35-q36 KCNH2, LQT2, HERG (confirmed) Potassium channel, voltage-gated, subfamily H, member 2 (OMIM ID: 152427) 7q35-q36 PRKAG2 (provisional) Protein kinase, AMP-activated, noncatalytic, gamma-2 (OMIM ID: 602743) 7q35-q36 SLC4A2, AE2, EPB3L1 (provisional) Solute carrier family 4, anion exchanger, member 2 (erythrocyte (OMIM ID: 109280) 7q35-q36 SMARCD3, BAF60C (provisional) SWI/SNF related, matrix-associated, actin-dependent regulator of (OMIM ID: 601737) 7q36 CDK5 (provisional) Cyclin-dependent kinase 5 (OMIM ID: 123831) 7q36 EN2 (provisional) Engrailed-2 (OMIM ID: 131310) 7q36 GBX1 (provisional) Gastrulatin brain homeo box 1 (OMIM ID: 603354) 7q36 HLXB9, HOXHB9, SCRA1 (provisional) Homeo box-HB9 (OMIM ID: 142994) 7q36 HPFH2 (tentative) Hereditary persistence of fetal hemoglobin, heterocellular, Indian (OMIM ID: 142335) 7q36 IAR (provisional) Islet cell antigen-related protein-tyrosine phosphatase (OMIM ID: 601698) 7q36 INSIG1 (provisional) Insulin-induced gene 1 (OMIM ID: 602055) 7q36 NOS3 (confirmed) Nitric oxide synthase 3 (endothelial cell) (OMIM ID: 163729) 7q36 RHEB2 (provisional) Ras homolog enriched in brain 2 (OMIM ID: 601293) 7q36 SCRA1 (provisional) Sacral agenesis, autosomal dominant (Currarino triad) (OMIM ID: 176450) 7q36 SHH, HPE3, HLP3 (confirmed) Sonic hedgehog (Drosophila), human homolog of (OMIM ID: 600725) 7q36 TPTPS, TPT (confirmed) Triphalangeal thumb-polysyndactyly syndrome (OMIM ID: 190605) 7q36.1 HTR5A (provisional) 5-hydroxytryptamine (serotonin) receptor-5A (OMIM ID: 601305) 7q36.1 XRCC2 (confirmed) X-ray repair, complementing defective, repair in Chinese hamster (OMIM ID: 600375) 7q36.1 ZNFC150 (provisional) Zinc finger protein C2H2-150 (OMIM ID: 602386) 7q36.3 VIPR2 (provisional) Vasoactive intestinal peptide receptor 2 (OMIM ID: 601970) C Chr.7 CLAPS1, AP19 (provisional) Clathrin-associated/assembly/adaptor protein, small 1 (OMIM ID: 603531) Chr.7 DIA2 (tentative) Diaphorase-2 (OMIM ID: 125870) Chr.7 DNAH11, DNAHC11 (provisional) Dynein, axonemal, heavy chain-11 (OMIM ID: 603339) Chr.7 DPP6 (provisional) Dipeptidylpeptidase VI (OMIM ID: 126141) Chr.7 EPHB4, HTK, MYK1 (provisional) Ephrin receptor EphB4 (hepatoma transmembrane kinase) (OMIM ID: 600011) Chr.7 EPIM (provisional) Epimorphin (OMIM ID: 132350) Chr.7 FDPSL2, FPSL2 (provisional) Farnesyl diphosphate synthase-like 2 (farnesyl pyrophosphate (OMIM ID: 134632) Chr.7 GCF1 (provisional) Growth rate controlling factor-1 (OMIM ID: 139220) Chr.7 MGA (tentative) Maltase-glucoamylase (OMIM ID: 154360) Chr.7 NHCP2 (provisional) Nonhistone chromosomal protein-2 (OMIM ID: 118880) Chr.7 POLD2 (provisional) Polymerase (DNA directed), delta 2, regulatory subunit (50kD) (OMIM ID: 600815) Chr.7 TPST1 (provisional) Tyrosylprotein sulfotransferase 1 (OMIM ID: 603125) Chr.7 UBE2H, UBCH2, UBC8 (provisional) Ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8) (OMIM ID: 601082) Chr.7 UP (confirmed) Uridine phosphorylase (OMIM ID: 191730) Chr.7 ZNT3 (provisional) Zinc transporter-3 (OMIM ID: 602878) Chr.7 ZP3B (provisional) Zona pellucida glycoprotein-3B (sperm receptor) (OMIM ID: 195002) 8 8pter-p22 EPMR (provisional) Epilepsy, progressive, with mental retardation (OMIM ID: 600143) 8pter-p22 MCPH1 (provisional) Microcephaly, primary autosomal recessive 1 (OMIM ID: 251200) 8pter-p21 DEFA6, DEF6 (provisional) Defensin, alpha-6, Paneth cell-specific (OMIM ID: 600471) 8pter-p21 DEFA5, DEF5 (provisional) Defensin, alpha-5, Paneth cell-specific (OMIM ID: 600472) 8p23.3 MYOM2 (provisional) Myomesin 2 (OMIM ID: 603509) 8p23.3-p23.1 F7R, F7E (confirmed) Coagulation factor VII regulator (OMIM ID: 134450) 8p23.2-p23.1 DEFA1, DEF1, MRS (confirmed) Defensin, alpha-1, myeloid-related sequence (OMIM ID: 125220) 8p23.2-p23.1 DEFB1 (provisional) Defensin, beta-1 (OMIM ID: 602056) 8p23.1-p21.3 AAC1, NAT1 (provisional) Arylamine N-acetyltransferase-1 (OMIM ID: 108345) 8p23.1-p21.3 AAC2, NAT2 (provisional) Arylamine N-acetyltransferase-2 (OMIM ID: 243400) 8p23.1-p22 DEFB2 (provisional) Defensin, beta-2 (OMIM ID: 602215) 8p23.1-p22 FDFT1, DGPT (provisional) Farnesyl-diphosphate farnesyltransferase 1 (squalene synthase) (OMIM ID: 184420) 8p23.1-p22 GATA4 (confirmed) GATA-binding protein-4 (OMIM ID: 600576) 8p23 CRS1C (tentative) Cryptidin-related sequence-1C (OMIM ID: 123555) 8p23-p22 BLK (provisional) BLK nonreceptor tyrosine kinase (OMIM ID: 191305) 8p23-p22 CPN2 (provisional) Carboxypeptidase N, polypeptide 2, 83-KD (OMIM ID: 603104) 8p23-p22 KWE (provisional) Keratolytic winter erythema (OMIM ID: 148370) 8p23-p21 EGR3 (provisional) Early growth response 3 (OMIM ID: 602419) 8p22 CTSB, CPSB (confirmed) Cathepsin B (OMIM ID: 116810) 8p22 LPL, LIPD (confirmed) Lipoprotein lipase (OMIM ID: 238600) 8p22 MSR1 (confirmed) Macrophage scavenger receptor (OMIM ID: 153622) 8p22 MTMR7 (provisional) Myotubularin-related protein 7 (OMIM ID: 603562) 8p22 N33 (provisional) Putative prostate cancer tumor suppressor (OMIM ID: 601385) 8p22 SLC7A2, ATRC2, HCAT2 (provisional) Solute carrier family 7 (cationic amino acid transporter, y+ system), (OMIM ID: 601872) 8p22-p21.3 PCM1 (provisional) Pericentriolar material 1 (OMIM ID: 600299) 8p22-p21 TNFRSF10B, DR5, TRAILR2 (confirmed) Tumor necrosis factor receptor superfamily, member 10B (OMIM ID: 603612) 8p22-p11.2 PTK2B, FAK2, PYK2 (provisional) Protein tyrosine kinase-2, beta (focal adhesion kinase 2) (OMIM ID: 601212) 8p22-p11 HGL, HRGA (confirmed) Heregulin, alpha (45kD, ERBB2 p185-activator) (OMIM ID: 142445) 8p22-q11 FNTA (provisional) Farnesyltransferase, CAAX box, alpha (OMIM ID: 134635) 8p21.3 SLC18A1, VMAT1, VAT1, CGAT (provisional) Solute carrier family 18 (vesicular monoamine), member 1 (OMIM ID: 193002) 8p21.2 HR (confirmed) Hairless, mouse, homolog of (OMIM ID: 602302) 8p21.1 EPB49, DMT (provisional) Erythrocyte membrane protein band 49 (dematin) (OMIM ID: 125305) 8p21.1 GSR (confirmed) Glutathione reductase (OMIM ID: 138300) 8p21.1 GULOP, GULO (provisional) Gulonolactone (L-) oxidase pseudogene (OMIM ID: 240400) 8p21 ADRA1C (provisional) Adrenergic, alpha-1C-, receptor (OMIM ID: 104221) 8q21 ANGPT2, ANG2 (confirmed) Angiopoietin 2 (OMIM ID: 601922) 8p21 BMP1 (confirmed) Bone morphogenetic protein-1 (OMIM ID: 112264) 8p21 DPYSL2, DRP2, CRMP2 (provisional) Dihydropyrimidinase-like 2 (OMIM ID: 602463) 8p21 GFRA2, GDNFRB (provisional) GDNF family receptor alpha-2 (OMIM ID: 601956) 8p21 MSLR1, CSR (provisional) Macrophage scavenger receptor-like 1 (OMIM ID: 602728) 8p21 NEFL (confirmed) Neurofilament, light polypeptide (OMIM ID: 162280) 8p21 NKX3A (provisional) NK homeo box, family 3, subunit A, Drosophila, homolog of (OMIM ID: 602041) 8p21 PNOC, PPNOC (provisional) Prepronociceptin (OMIM ID: 601459) 8p21 SCZD6 (provisional) Schizophrenia susceptibility locus, chromosome 8p-related (OMIM ID: 603013) 8p21 SFTPC, SFTP2 (confirmed) Surfactant, pulmonary-associated protein C (pulmonary surfactant (OMIM ID: 178620) 8p21-p12 ADAM3A, CYRN1, ADAM3, TMDCI (provisional) A disintegrin and metalloproteinase domain 3a (cyritestin-1) (OMIM ID: 602889) 8p21-p12 CLU, CLI, SGP2, TRPM2 (confirmed) Clusterin (complement lysis inhibitor, SP-40,40; sulfated glycoprotein (OMIM ID: 185430) 8p21-p12 EPHX2 (provisional) Epoxide hydrolase 2, cytoplasmic (OMIM ID: 132811) 8p21-p12 GTF2E2 (provisional) General transcription factor IIE, polypeptide 2 (beta subunit, 34kD) (OMIM ID: 189964) 8p21-p11.2 GNRH1, LNRH (provisional) Gonadotropin-releasing hormone-1 (leutinizing-releasing hormone) (OMIM ID: 152760) 8p21-p11.2 STC1, STC (provisional) Stanniocalcin 1 (OMIM ID: 601185) 8p21-q22 DYT6 (provisional) Dystonia-6 (torsion dystonia, adult onset, of mixed type) (OMIM ID: 602629) 8p12 EIF4EBP1, 4EBP1 (provisional) Eukaryotic translation initiation factor-4E binding protein-1 (OMIM ID: 602223) 8p12 PLAT, TPA (confirmed) Plasminogen activator, tissue type (OMIM ID: 173370) 8p12-p11.2 ADRB3 (provisional) Adrenergic, beta-3-, receptor (OMIM ID: 109691) 8p12-p11.2 GPR9 (provisional) G protein-coupled receptor-9 (OMIM ID: 600894) 8p12-p11.2 PPP2CB (confirmed) Protein phosphatase-2 (formerly 2A), catalytic subunit, beta isoform (OMIM ID: 176916) 8p12-p11.2 WRN (confirmed) Werner syndrome (OMIM ID: 277700) 8p12-q11.2 CALB1 (provisional) Calbindin 1, 28kD (OMIM ID: 114050) 8p12-p11.2 D8S2298E, REP8 (provisional) Reproduction/chromosome 8 (OMIM ID: 602155) 8p12-p11 DUSP4, MKP2, HVH2 (provisional) Dual-specificity phosphatase-4 (MAP kinase phosphatase-2) (OMIM ID: 602747) 8p12-p11 IDO (confirmed) Indoleamine 2,3-dioxygenase (OMIM ID: 147435) 8p12-q12 SLC20A2, MLVAR, GLVR2 (confirmed) Solute carrier family 20, phosphate transporter, member 2 (OMIM ID: 158378) 8p12-q13 SPG5A (provisional) Spastic paraplegia-5A (autosomal recessive) (OMIM ID: 270800) 8p11.2 ADAM2, FTNB, PH30 (provisional) A disintegrin and metalloproteinase domain 2 (fertilin, beta) (OMIM ID: 601533) 8p11.2 ANK1, SPH2 (confirmed) Ankyrin-1, erythrocytic (OMIM ID: 182900) 8p11.2 CHRNB3 (confirmed) Cholinergic receptor, nicotinic, beta polypeptide-3 (OMIM ID: 118508) 8p11.2 IKBKB, NFKBIKB (confirmed) Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase (OMIM ID: 603258) 8p11.2 POLB (confirmed) Polymerase (DNA directed), beta (OMIM ID: 174760) 8p11.2 STAR (provisional) Steroidogenic acute regulatory protein (OMIM ID: 600617) 8p11.2-p11.1 CEBPD (confirmed) CCAAT/enhancer-binding protein (C/EBP), delta (OMIM ID: 116898) 8p11.2-p11.1 FGFR1, FLT2 (confirmed) Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) (OMIM ID: 136350) 8p11 MOZ (provisional) Monocytic leukemia zinc finger protein (OMIM ID: 601408) 8q CCAL1 (provisional) Chondrocalcinosis 1 (OMIM ID: 600668) 8q GPB (confirmed) Glycerol phosphatase, beta- (OMIM ID: 109640) 8q11 MOS (confirmed) Oncogene MOS, Moloney murine sarcoma virus (OMIM ID: 190060) 8q11 PRKDC, HYRC1, DNPK1 (confirmed) Protein kinase, DNA-activated, catalytic polypeptide (OMIM ID: 600899) 8q11 SLUG (provisional) Neural crest transcription factor SLUG (OMIM ID: 602150) 8q11-q12 CA8, CALS, CARP (provisional) Carbonic anhydrase VIII (OMIM ID: 114815) 8q11-q12 CYP7A1, CYP7 (provisional) Cytochrome P450, subfamily VII (cholesterol 7-alpha-monooxygenase), (OMIM ID: 118455) 8q11-q13 RP1, ORP1 (confirmed) Oxygen-regulated photoreceptor protein-1 (retinitis pigmentosa-1) (OMIM ID: 603937) 8q11.2 MCM4 (confirmed) Minichromosome maintenance deficient, S. cerevisae, homolog of, 4 (OMIM ID: 602638) 8q11.2 OPRK1 (confirmed) Opiate receptor, kappa-1 (OMIM ID: 165196) 8q12 PLAG1 (provisional) Pleomorphic adenoma gene 1 (OMIM ID: 603026) 8q12 SGPA, PSA (provisional) Salivary gland pleomorphic adenoma (OMIM ID: 181030) 8q12-q13 IL7 (provisional) Interleukin-7 (OMIM ID: 146660) 8q13 CRH (confirmed) Corticotropin releasing hormone (OMIM ID: 122560) 8q13 DUS (provisional) Duane syndrome (OMIM ID: 126800) 8q13 TERF1, TRF1 (provisional) Telomeric repeat binding factor 1 (OMIM ID: 600951) 8q13-q21 FEB1 (provisional) Febrile convulsions, familial, 1 (OMIM ID: 602476) 8q13-q21 GEM (provisional) GTP-binding protein overexpressed in skeletal muscle (OMIM ID: 600164) 8q13-q21.1 CMT4A (confirmed) Charcot-Marie-Tooth neuropathy-4A (autosomal recessive) (OMIM ID: 214400) 8q13-q22 PDE7A, HCP1 (provisional) Phosphodiesterase-7A (OMIM ID: 171885) 8q13-qter LYN (provisional) Yamaguchi sarcoma viral (v-yes-1) related oncogene homolog (OMIM ID: 165120) 8q13.1-q13.3 TTPA, TTP1, AVED (confirmed) Tocopherol (alpha) transfer protein (OMIM ID: 600415) 8q13.3 EYA1, BOR (confirmed) Eyes absent, Drosophila, homolog of, 1 (OMIM ID: 601653) 8q13.3 NDUFB9, UQOR22 (provisional) NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22) (OMIM ID: 601445) 8q21 BN51T, TSBN51 (provisional) Temperature sensitive complementation, cell cycle specific, tsBN51 (OMIM ID: 187280) 8q21 CYP11B1, P450C11 (confirmed) Cytochrome P450, subfamily XIB, polypeptide 1 (11-beta-hydroxylase; (OMIM ID: 202010) 8q21 CYP11B2 (confirmed) Cytochrome P450, subfamily XIB, polypeptide 2 (OMIM ID: 124080) 8q21 FABP4 (provisional) Fatty acid-binding protein-4, adipocyte (OMIM ID: 600434) 8q21 MMP16 (confirmed) Matrix metalloproteinase 16 (membrane-inserted) (OMIM ID: 602262) 8q21 NBS1, NBS (confirmed) Nibrin (OMIM ID: 602667) 8q21-q22 ACHM3 (provisional) Achromatopsia-3 (OMIM ID: 262300) 8q21.1 PXMP3, PAF1, PMP35 (confirmed) Peroxisomal membrane protein-3 (35kD) (OMIM ID: 170993) 8q21.1-qter GLYB (provisional) Glycine auxotroph B, complementation of hamster (OMIM ID: 138480) 8q21.13-q21.3 IMPA1 (provisional) Inositol(myo)-1(or 4)-monophosphatase-1 (OMIM ID: 602064) 8q21.3 CYP7B1 (provisional) Oxysterol 7-alpha-hydroxylase (OMIM ID: 603711) 8q21.3 DECR (provisional) 2,4-dienoyl CoA reductase (OMIM ID: 222745) 8q21.3-q22.1 PMP2 (confirmed) Peripheral myelin protein-2 (OMIM ID: 170715) 8q22 ANGPT1, ANG1 (confirmed) Angiopoietin-1 (OMIM ID: 601667) 8q22 CAC@ (confirmed) CARBONIC ANHYDRASE CLUSTER (OMIM ID: ) 8q22 CA1 (confirmed) Carbonic anhydrase I (OMIM ID: 114800) 8q22 CA2 (confirmed) Carbonic anhydrase II (OMIM ID: 259730) 8q22 CA3 (confirmed) Carbonic anhydrase III (OMIM ID: 114750) 8q22 CBFA2T1, AML1T1, ETO (provisional) Core-binding factor, alpha subunit 2; translocated to, 1; cyclin (OMIM ID: 133435) 8q22 DPYS, DHP (provisional) Dihydropyrimidinase (OMIM ID: 222748) 8q22 KCNS2 (provisional) Potassium voltage-gated channel, delayed-rectifier, subfamily S, (OMIM ID: 602906) 8q22 MYBL1 (provisional) Avian myeloblastosis viral (v-myb) oncogene homolog like-1 (OMIM ID: 159405) 8q22 ODF1 (provisional) Outer dense fiber of sperm tails 1 (OMIM ID: 182878) 8q22 SPAG1 (provisional) Sperm-associated antigen-1 (OMIM ID: 603395) 8q22-q23 COH1 (provisional) Cohen syndrome 1 (OMIM ID: 216550) 8q22-q23 COX6C (provisional) Cytochrome c oxidase, subunit VIc (OMIM ID: 124090) 8q22-q23 EIF3S6, INT6 (provisional) Eukaryotic translation initiation factor 3, subunit 6, 48kD (OMIM ID: 602210) 8q22-q24 SDC2, HSPG1 (provisional) Syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated; (OMIM ID: 142460) 8q22.1 CDH17, CDH16, HPT1 (provisional) Cadherin-17, liver-intestine (OMIM ID: 603017) 8q22.2 SGM1, KFSL (provisional) Segmentation syndrome 1 (Klippel-Feil syndrome with laryngeal (OMIM ID: 148900) 8q22.3-q23.1 FZD6 (provisional) Frizzled, drosophila, homolog of, 6 (OMIM ID: 603409) 8q23 COL14A1, UND (provisional) Collagen, type XIV, alpha-1 (undulin) (OMIM ID: 120324) 8q23 GLC1D (provisional) Glaucoma 1, open angle, D (OMIM ID: 602429) 8q23 TRHR (confirmed) Thyrotropin-releasing hormone receptor (OMIM ID: 188545) 8q23-q24 PENK (provisional) Proenkephalin (OMIM ID: 131330) 8q23-q24 SNT2B1, A1B, SNTB1 (provisional) Syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic (OMIM ID: 600026) 8q23-q24 SPG8 (provisional) Spastic paraplegia-8 (OMIM ID: 603563) 8q24 BAI1 (provisional) Brain-specific angiogenesis inhibitor-1 (OMIM ID: 602682) 8q24 EBS1 (confirmed) Epidermolysis bullosa simplex-1 (Ogna) (OMIM ID: 131950) 8q24 ECA1 (provisional) Epilepsy, childhood abscence, 1 (OMIM ID: 600131) 8q24 EGI (provisional) Epilespy, generalized, idiopathic (OMIM ID: 600669) 8q24 GPAA1, GAA1 (provisional) Glycophosphatidylinositol anchor attachment protein 1 (OMIM ID: 603048) 8q24 HMSNL, NMSL (provisional) Herediatry motor and sensory neuropathy, Lom type (OMIM ID: 601455) 8q24 HPV18I1 (provisional) Human papillomavirus type 18 integration site-1 (OMIM ID: 167959) 8q24 JRK, JH8 (confirmed) Jerky, mouse, homolog of (OMIM ID: 603210) 8q24 KCNQ3, EBN2, BFNC2 (confirmed) Potassium voltage-gated channel, KQT-like subfamily, member-3 (OMIM ID: 602232) 8q24 PLA2L (provisional) Phospholipase A2-like (OMIM ID: 601658) 8q24 PLEC1, PLTN (confirmed) Plectin 1, intermediate filament binding protein, 500kD (OMIM ID: 601282) 8q24 PVT1 (provisional) Oncogene PVT-1 (MYC activator) (OMIM ID: 165140) 8q24 LY6E, RIGE, SCA2 (provisional) Lymphocyte antigen 6 complex, locus E (retinoic acid induced gene E) (OMIM ID: 601384) 8q24 VMD1 (confirmed) Macular dystrophy, atypical vitelliform (OMIM ID: 153840) 8q24 ZNF7, KOX4 (confirmed) Zinc finger protein-7 (KOX4) (OMIM ID: 194531) 8q24 ZNF16, KOX9 (provisional) Zinc finger protein-16 (KOX 9) (OMIM ID: 601262) 8q24-qter PTK2, FADK (provisional) PTK2 protein tyrosine kinase (OMIM ID: 600758) 8q24.1 NOV (provisional) Nephroblastoma overexpressed gene (OMIM ID: 164958) 8q24.1 PDNP2 (provisional) Phosphodiesterase I/nucleotide pyrophosphatase 2 (OMIM ID: 601060) 8q24.1 TRC8, RCA1, HRCA1 (provisional) Translocation-related gene on chromosome 8 (OMIM ID: 603046) 8q24.1-q24.2 ANX13, ISA (provisional) Annexin XIII (OMIM ID: 602573) 8q24.1-q24.3 WISP1 (provisional) Wnt-1 inducible signaling pathway protein 1 (OMIM ID: 603398) 8q24.11-q24.13 EXT1 (confirmed) Exostoses (multiple) 1 (OMIM ID: 133700) 8q24.11-q24.13 LGCR, LGS, TRPS2 (confirmed) Langer-Giedion syndrome chromosome region (OMIM ID: 150230) 8q24.12 HAS2 (provisional) Hyaluronan synthase-2 (OMIM ID: 601636) 8q24.12 TRPS1 (provisional) Trichorhinophalangeal syndrome, type I (OMIM ID: 190350) 8q24.12-q24.13 MYC (confirmed) Avian myelocytomatosis viral (v-myc) oncogene homolog (OMIM ID: 190080) 8q24.12-q24.13 ZNF34, KOX32 (provisional) Zinc finger protein-34 (KOX32) (OMIM ID: 194526) 8q24.2 ADCY8, ADCY3 (provisional) Adenylyl cyclase-8, brain (OMIM ID: 103070) 8q24.2 PSCA (provisional) Prostate stem cell antigen (OMIM ID: 602470) 8q24.2-q24.3 GPR20 (provisional) G protein-coupled receptor-20 (OMIM ID: 601908) 8q24.2-q24.3 SLA (confirmed) Src-like-adapter (OMIM ID: 601099) 8q24.2-q24.3 TG (confirmed) Thyroglobulin (OMIM ID: 188450) 8q24.3 CYC1 (confirmed) Cytochrome c1 (OMIM ID: 123980) 8q24.3 FAST1 (provisional) Forkhead activin signal transducer 1, Xenopus, homolog of (OMIM ID: 603621) 8q24.3 GLI4, HKR4 (confirmed) GLI-Kruppel family member GLI4 (oncogene HKR4) (OMIM ID: 165280) 8q24.3 GML (provisional) Glycosylphosphatidylinositol-anchored molecule-like protein (OMIM ID: 602370) 8q24.3 GPT, GPT1, AAT1 (confirmed) Glutamic-pyruvate transaminase (alanine aminotransferase) (OMIM ID: 138200) 8q24.3 GRINA, NMDARA1 (confirmed) Glutamate receptor, ionotropic, N-methyl (OMIM ID: 138251) 8q24.3 RECQL4, RTS, RECQ4 (provisional) RecQ protein-like 4 (DNA helicase, RecQ-like, type 4) (OMIM ID: 603780) 8q24.3 TSTA3 (provisional) Tissue-specific transplantation antigen-3 (OMIM ID: 137020) C Chr.8 CHRNA2 (provisional) Cholinergic receptor, nicotinic, alpha polypeptide-2 (OMIM ID: 118502) Chr.8 DEFA4, DEF4, HP4 (provisional) Defensin, alpha-4, corticostatin (OMIM ID: 601157) Chr.8 FRV2 (provisional) Full-length endogenous retroviral sequence-2 (OMIM ID: 136870) Chr.8 IFNB3 (inconsistent) Interferon, beta-3, fibroblast (OMIM ID: 147860) Chr.8 PPP3CC, CALNA3 (provisional) Protein phosphatase-3 (formerly 2B), catalytic subunit, gamma isoform (OMIM ID: 114107) Chr.8 RPL30 (provisional) Ribosomal protein L30 (OMIM ID: 180467) Chr.8 UQCRB, UQBP, QPC (provisional) Ubinquinol-cytochrome c reductase ginding protein (OMIM ID: 191330) Chr.8 ZNF1 (provisional) Zinc finger protein-1 (OMIM ID: 194490) 9 9pter-q12 RLN1 (provisional) Relaxin, H1 (OMIM ID: 179730) 9pter-q12 RLN2 (provisional) Relaxin, H2 (OMIM ID: 179740) 9p24.3 DMRT1, DMT1 (provisional) Double sex and mab-3-related transcription factor-1 (OMIM ID: 602424) 9p24.1 NFIB (confirmed) Nuclear factor I/B (OMIM ID: 600728) 9p24 SLC1A1, EAAC1 (provisional) Solute carrier family 1, member 1 (high-affinity glutamate (OMIM ID: 133550) 9p24 INSL4 (provisional) Insulin-like 4, placenta (OMIM ID: 600910) 9p24 JAK2 (provisional) Janus kinase 2 (a protein-tyrosine kinase) (OMIM ID: 147796) 9p24 OVC (provisional) Oncogene OVC (ovarian adenocarcinoma oncogene) (OMIM ID: 164759) 9p24 SRA2, TDFA (confirmed) Sex-reversal, autosomal, 2 (testis-determining factor, autosomal) (OMIM ID: 154230) 9p24 VLDLR (confirmed) Very low density lipoprotein receptor (OMIM ID: 192977) 9p24-p22 MPDZ, MUPP1 (provisional) Multiple PDZ domain protein (OMIM ID: 603785) 9p24-p23 SMARCA2, SNF2L2 (provisional) SWI/SNF related, matrix associated, actin dependent regulator of (OMIM ID: 600014) 9p24-p13 AK3 (confirmed) Adenylate kinase-3, mitochondrial (OMIM ID: 103030) 9p23 TYRP1, CAS2, GP75 (confirmed) Tyrosinase-related protein 1 (OMIM ID: 115501) 9p22 CER1 (confirmed) Cerebrus 1, xenopus, homolog of (OMIM ID: 603777) 9p22 GLDC, HYGN1, GCSP (confirmed) Glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine (OMIM ID: 238300) 9p22 IFNA1, IFNA@ (confirmed) Interferon, alpha-1 (OMIM ID: 147660) 9p22 INFA2 (provisional) Interferon, alpha-2 (OMIM ID: 147562) 9p22 INFA4 (provisional) Interferon, alpha-4 (OMIM ID: 147564) 9p22 INFA5 (provisional) Interferon, alpha-5 (OMIM ID: 147565) 9p22 IFNA6 (provisional) Interferon, alpha-6 (OMIM ID: 147566) 9p22 IFNA7 (provisional) Interferon, alpha-7 (OMIM ID: 147567) 9p22 IFNA8 (provisional) Interferon, alpha-8 (OMIM ID: 147568) 9p22 IFNA10 (provisional) Interferon, alpha-10 (OMIM ID: 147577) 9p22 IFNA13 (provisional) Interferon, alpha-13 (OMIM ID: 147578) 9p22 IFNA14 (provisional) Interferon, alpha-14 (OMIM ID: 147579) 9p22 IFNA16 (provisional) Interferon, alpha-16 (OMIM ID: 147580) 9p22 IFNA17 (provisional) Interferon, alpha-17 (OMIM ID: 147583) 9p22 IFNA21 (provisional) Interferon, alpha-21 (OMIM ID: 147584) 9p22 MLLT3, AF9 (provisional) Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) (OMIM ID: 159558) 9p22-p21 DMSFH, BDMF (provisional) Diaphyseal medullary stenosis with malignant fibrous histiocytoma (OMIM ID: 112250) 9p22-p21 LALL (provisional) Lymphomatous acute lymphoblastic leukemia (OMIM ID: 247640) 9p22-p13 ACO1 (confirmed) Aconitase, soluble (OMIM ID: 100880) 9p21 CDKN2A, MTS1, P16, MLM, CMM2 (confirmed) Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4) (OMIM ID: 600160) 9p21 CDKN2B, MTS2, P15, INK4B (provisional) Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (OMIM ID: 600431) 9p21 ELAVL2, HELN1, HUB (confirmed) Embryonic lethal, abnormal vision, Drosophila, homolog of, like-2 (OMIM ID: 601673) 9p21 IFNB1 (confirmed) Interferon, beta-1, fibroblast (OMIM ID: 147640) 9p21 IFNW1 (provisional) Interferon, omega-1 (OMIM ID: 147553) 9p21 MFT, TEM (provisional) Trichoepithelioma, multiple familial (OMIM ID: 601606) 9p21 MTAP (confirmed) Methylthioadenosine phosphorylase (OMIM ID: 156540) 9p21 RPS6 (confirmed) Ribosomal protein S6 (OMIM ID: 180460) 9p21 TEK, TIE2, VMCM (confirmed) TEK tyrosine kinase, endothelial (OMIM ID: 600221) 9p21-p12 NPR2, ANPRB (provisional) Natriuretic peptide receptor B/guanylate cyclase B (OMIM ID: 108961) 9p21-p12 RMRP, RMRPR (provisional) Mitochondrial RNA-processing endoribonuclease (OMIM ID: 157660) 9p21-q21 AMCD1, DA1 (provisional) Arthrogryposis multiplex congenita, distal, type 1 (OMIM ID: 108120) 9p13.2-p13.1 TPM2, TMSB (confirmed) Tropomyosin-2, beta (OMIM ID: 190990) 9p13 ALDH5 (confirmed) Aldehyde dehydrogenase-5 (OMIM ID: 100670) 9p13 APAH1 (provisional) AP4A hydrolase-1 (OMIM ID: 602852) 9p13 AQP3 (confirmed) Aquaporin-3 (OMIM ID: 600170) 9p13 AQP7 (confirmed) Aquaporin-7 (OMIM ID: 602974) 9p13 B4GALT1, GGTB2, GT1, GTB (provisional) Glycoprotein-4-beta-galactosyltransferase-2 (EC 2.4.1.22) (OMIM ID: 137060) 9p13 CHH (provisional) Cartilage-hair hypoplasia (OMIM ID: 250250) 9p13 CNTFR (confirmed) Ciliary neurotrophic factor receptor (OMIM ID: 118946) 9p13 GALT (confirmed) Galactose-1-phosphate uridyltransferase (OMIM ID: 230400) 9p13 IL11RA (confirmed) Interleukin-11 receptor, alpha (OMIM ID: 600939) 9p13 PAX5, BSAP (confirmed) Paired box homeotic gene-5 (B-cell lineage specific activator (OMIM ID: 167414) 9p13 SCYA19, ELC, MIP3B (provisional) Small inducible cytokine subfamily A, member-19 (OMIM ID: 602227) 9p13 SCYA21, SLC (provisional) Small inducible cytokine subfamily A (Cys-Cys), member 21 (OMIM ID: 602737) 9p13 TESK1 (provisional) Testis-specific protein kinase-1 (OMIM ID: 601782) 9p13 XRCC9, FANCG (provisional) X-ray repair, complementing defective, in Chinese hamster, 9 (OMIM ID: 602956) 9p13-p12 IGKJRB1 (provisional) Immunoglobulin kappa J region recombination signal-binding protein-1 (OMIM ID: 147183) 9p13-p12 VCP (confirmed) Valosin-containing protein (OMIM ID: 601023) 9p13-p12 AMDM (provisional) Acromesomelic dysplasia, Maroteaux type (OMIM ID: 602875) 9p12 BAG1 (provisional) BCL2-associated athanogene (OMIM ID: 601497) 9p12-p11 SHB (provisional) SHB adaptor protein (a Src homology 2 protein) (OMIM ID: 600314) 9p12-q12 PGM5 (provisional) Phosphoglucomutase-5 (OMIM ID: 600981) 9p11 MROS (tentative) Melkersson-Rosenthal syndrome (OMIM ID: 155900) 9p1-q1 FKHL9 (provisional) Forkhead, drosophila, homolog-like 9 (OMIM ID: 601092) 9p1-q1 IBM2 (provisional) Inclusion body myopathy, autosomal recessive (OMIM ID: 600737) 9p CD72, LYB2 (provisional) CD72 antigen (OMIM ID: 107272) 9p TLN (provisional) Talin (OMIM ID: 186745) 9cen-q34 FPGS (confirmed) Folylpolyglutamate synthetase (OMIM ID: 136510) 9q PTPRD, PTPD, HPTP (provisional) Protein tyrosine phosphatase, receptor type, delta polypeptide (OMIM ID: 601598) 9q11-q22 ANX1, LPC1 (provisional) Annexin I (lipocortin I) (OMIM ID: 151690) 9q12 DNCM (provisional) Cytoplasmic membrane DNA (OMIM ID: 126330) 9q12-q22.2 HOMG, HSH, HMGX (provisional) Hypomagnesemia with secondary hypocalcemia (OMIM ID: 602014) 9q13 APBA1, X11 (provisional) Amyloid beta A4 precursor protein-binding, family A, member 1 (OMIM ID: 602414) 9q13 BTEB1, BTEB (provisional) Basic transcription element-binding protein 1 (OMIM ID: 602902) 9q13 CMD1B, CMPD1, FDC (confirmed) Cardiomyopathy, dilated-1B, autosomal dominant (OMIM ID: 600884) 9q13 FRDA, FARR (confirmed) Friedreich ataxia (frataxin) (OMIM ID: 229300) 9q13 PRKACG (provisional) Protein kinase, cAMP-dependent, catalytic, gamma (OMIM ID: 176893) 9q13 PIP5K1B, STM7, MSS4 (provisional) Phosphatidylinositol-4-phosphate 5-kinase, type I, beta (OMIM ID: 602745) 9q13-q21 CDC20 (provisional) Cell division cycle 20, S. cerevisiae, homolog of (OMIM ID: 603618) 9q13-q21 DFNB7 (provisional) Deafness, autosomal recessive 7 (OMIM ID: 600974) 9q13-q21 GSM1, GSP (provisional) Geniospasm 1 (OMIM ID: 190100) 9q21 ALDH1 (provisional) Aldehyde dehydrogenase-1, soluble (OMIM ID: 100640) 9q21 CHAC (provisional) Choreoacanthocytosis (OMIM ID: 200150) 9q21 GCNT1 (provisional) Glucosaminyl (N-acetyl) transferase 1, core 2 (OMIM ID: 600391) 9q21 GNAQ (provisional) Guanine nucleotide-binding protein (G protein), q (OMIM ID: 600998) 9q21 IARS (provisional) Isoleucine-tRNA synthetase (OMIM ID: 600709) 9q21-q22 COL15A1 (provisional) Collagen XV, alpha-1 polypeptide (OMIM ID: 120325) 9q21-q22 CTSL (confirmed) Cathepsin L (OMIM ID: 116880) 9q21.11-q21.2 GP2 (provisional) Glycoprotein 2, zymogen granule membrane (OMIM ID: 602977) 9q21.3 PCSK5 (confirmed) Proprotein convertase subtilisin/kexin type 5 (OMIM ID: 600488) 9q21.3-q22 HPLH1 (provisional) Hemophagocytic lymphohistiocytosis, familial, 1 (OMIM ID: 603552) 9q21.3-q22.1 GAS1 (confirmed) Growth arrest-specific gene-1 (OMIM ID: 139185) 9q21.32-q21.33 HNRPK (confirmed) Heterogeneous nuclear ribonucleoprotein K (OMIM ID: 600712) 9q22 CSMF (confirmed) Chondrosarcoma, extraskeletal myxoid, fused to EWS in (OMIM ID: 600542) 9q22 FKHL15, TITF2, TTF2 (confirmed) Forkhead, drosophila, homolog-like 15 (thyroid transcription factor-2) (OMIM ID: 602617) 9q22 HSD17B3, EDH17B3 (provisional) Hydroxysteroid (17-beta) dehydrogenase 3 (OMIM ID: 264300) 9q22 NINJ1 (confirmed) Ninjurin (OMIM ID: 602062) 9q22 RORB, RZRB (provisional) RAR-related orphan receptor B (OMIM ID: 601972) 9q22 SYK (provisional) Spleen tyrosine kinase (OMIM ID: 600085) 9q22-q31 ABC1, HDLDT1, TGD (confirmed) ATP-binding cassette 1 (OMIM ID: 600046) 9q22-q31 NPHP2, NPH2 (provisional) Nephronophthisis-2 (infantile) (OMIM ID: 602088) 9q22-q31 ZNF189 (provisional) Zinc finger protein-189 (OMIM ID: 603132) 9q22.1 NTRK2, TRKB (confirmed) Neurotrophic tyrosine kinase, receptor, type 2 (OMIM ID: 600456) 9q22.1-q22.3 HSN1, HSAN1 (provisional) Hereditary sensory neuropathy, type 1 (OMIM ID: 162400) 9q22.1-q22.2 EDG3 (provisional) G protein-coupled receptor, endothelial differentiation gene-3 (OMIM ID: 601965) 9q22.2-q22.3 FBP1 (confirmed) Fructose-bisphosphatase 1 (OMIM ID: 229700) 9q22.3 ALDOB (confirmed) Aldolase B, fructose-bisphosphatase (OMIM ID: 229600) 9q22.3 BAAT (provisional) Bile acid coenzyme A:amino acid N-acyltransferase (glycine (OMIM ID: 602938) 9q22.3 ECM2 (provisional) Extracellular matrix protein-2 (OMIM ID: 603479) 9q22.3 FANCC, FACC (confirmed) Fanconi anemia, complementation group C (OMIM ID: 227645) 9q22.3 PTCH, NBCCS, BCNS (confirmed) Patched, Drosophila, homolog of (OMIM ID: 601309) 9q22.3 TMOD (confirmed) Tropomodulin (OMIM ID: 190930) 9q22.3 WDR2, IR10 (provisional) WD repeat domain-2 (OMIM ID: 602159) 9q22.3 XPA (confirmed) Xeroderma pigmentosum, complementation group A (OMIM ID: 278700) 9q22.3 ZNF169 (confirmed) Zinc finger protein-169 (OMIM ID: 603404) 9q22.3-q31 NCBP (provisional) Nuclear cap binding protein, 80kD (OMIM ID: 600469) 9q31 FCMD (confirmed) Fukuyama congenital muscular dystrophy (OMIM ID: 253800) 9q31 MSSE, ESS1 (provisional) Epithelioma, self-healing, squamous 1, Ferguson-Smith type (OMIM ID: 132800) 9q31 NBCCS, BCNS (confirmed) Nevoid basal cell carcinoma syndrome (OMIM ID: 109400) 9q31 TAL2 (provisional) T-cell acute lymphocytic leukemia-2 (OMIM ID: 186855) 9q31 TMEFF1, C9ORF2 (provisional) Transmembrane protein with EGF-like and 2 follistatin-like domains 1 (OMIM ID: 603421) 9q31 TXN (confirmed) Thioredoxin (OMIM ID: 187700) 9q31 UGCG, GCS (provisional) UDP-glucose ceramide glucosyltransferase (OMIM ID: 602874) 9q31-q32 COPT1, CTR1 (provisional) Copper transporter-1 (OMIM ID: 603085) 9q31-q32 COPT2, CTR2 (provisional) Copper transporter-2 (OMIM ID: 603088) 9q31-q33 DYS (confirmed) Dysautonomia (Riley-Day syndrome, hereditary sensory autonomic (OMIM ID: 223900) 9q31-q33 RGS3 (provisional) Regulator of G-protein signaling-3 (OMIM ID: 602189) 9q31-q34.1 LGMD2H (provisional) Limb-girdle muscular dystrophy 2H (OMIM ID: 254110) 9q31-qter APPL1 (provisional) Amyloid beta (A4) precursor protein-like-1 (OMIM ID: 104740) 9q31.3-q32 MUSK (provisional) Receptor tyrosine kinase MuSK (OMIM ID: 601296) 9q32 AFD1, AFDN (tentative) Acrofacial dysostosis-1, Nager type (OMIM ID: 154400) 9q32 ZFP37 (provisional) Zinc finger protein-37, mouse, homolog of (OMIM ID: 602951) 9q32-q33 AMBP, ITIL, ITI, HCP (confirmed) Alpha-1-microglobulin/bikunin precursor (inter-alpha-trypsin (OMIM ID: 176870) 9q32-q33 DBCCR1 (provisional) Deleted in bladder cancer chromosome region candidate 1 (OMIM ID: 602865) 9q32-q33 TLR4 (provisional) Toll-like recpetor-4 (OMIM ID: 603030) 9q32-q33.3 PTGS1 (provisional) Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and (OMIM ID: 176805) 9q32-q34 WI (tentative) \'Whirler' deafness, human homolog of (OMIM ID: 193675) 9q33 FTZF1, FTZ1, SF1 (provisional) Fushi tarazu factor (Drosophila) homolog 1 (OMIM ID: 184757) 9q33 GPR21 (provisional) G protein-coupled receptor-21 (OMIM ID: 601909) 9q33 HXB (confirmed) Hexabrachion (tenascin) (OMIM ID: 187380) 9q33 TNFSF8, CD30L, CD30LG (provisional) Tumor necrosis factor ligand superfamily, member 8 (CD30 ligand) (OMIM ID: 603875) 9q33-q34.1 GCNF (provisional) Germ cell nuclear factor (OMIM ID: 602778) 9q33-q34 BDB1, BDB (provisional) Brachydactyly, type B1 (OMIM ID: 113000) 9q33-q34 GGTA1, GLYT2 (provisional) Glycoprotein, alpha-galactosyltransferase-1 (OMIM ID: 104175) 9q33-q34 PBX3 (confirmed) Pre-B-cell leukemia transcription factor-3 (OMIM ID: 176312) 9q33-q34 SARD, SAR (tentative) Sarcosine dehydrogenase (OMIM ID: 268900) 9q33-q34 SPTAN1 (confirmed) Spectrin, alpha, nonerythrocytic-1 (alpha-fodrin) (OMIM ID: 182810) 9q33-q34 TGFBR1 (provisional) Transforming growth factor, beta receptor I (activin A receptor type (OMIM ID: 190181) 9q33-q34 TRAF1 (provisional) TNF receptor-associated factor 2 (OMIM ID: 601711) 9q33-q34.1 LHX2, LH2 (provisional) LIM homeo box protein 2 (OMIM ID: 603759) 9q33.1 PAPPA (provisional) Pregnancy-associated plasma protein A (OMIM ID: 176385) 9q33.2-q34.11 NDUFA8 (confirmed) NADH-ubiquinone oxidoreductase 1 beta subcomplex, 8 (OMIM ID: 603359) 9q34 ABC2 (provisional) ATP-binding cassette 2 (OMIM ID: 600047) 9q34 ABO (confirmed) ABO blood group (OMIM ID: 110300) 9q34 ALAD (confirmed) Aminolevulinate, delta-, dehydratase (OMIM ID: 125270) 9q34 ALS4 (provisional) Amyotrophic lateral sclerosis-4, juvenile dominant (OMIM ID: 602433) 9q34 ASS (confirmed) Argininosuccinate synthetase (OMIM ID: 603470) 9q34 CACNA1B, CACNL1A5 (confirmed) Calcium channel, voltage-dependent, L type, alpha 1B subunit (OMIM ID: 601012) 9q34 CD39L1 (provisional) CD39-like-1 (OMIM ID: 602012) 9q34 DBH (confirmed) Dopamine-beta-hydroxylase (OMIM ID: 223360) 9q34 DNM1 (provisional) Dynamin-1 (OMIM ID: 602377) 9q34 DYT1 (confirmed) Dystonia-1, torsion (autosomal dominant) (OMIM ID: 128100) 9q34 FCN1 (confirmed) Ficolin (collagen/fibrinogen domain-containing) 1 (OMIM ID: 601252) 9q34 FCN2 (provisional) Ficolin (collagen/fibrinogen domain-containing lectin) 2 (OMIM ID: 601624) 9q34 GSN (provisional) Gelsolin (OMIM ID: 137350) 9q34 HSPA5, GRP78 (confirmed) Heat-shock 70kD protein-5 (glucose-regulated protein, 78kD) (OMIM ID: 138120) 9q34 LCCS (provisional) Lethal congenital contracture syndrome (OMIM ID: 253310) 9q34 LCN1 (confirmed) Lipocalin 1 (protein migrating faster than albumin, tear prealbumin) (OMIM ID: 151675) 9q34 LCN2, NGAL (provisional) Lipocalin 2 (oncogene 24p3) (OMIM ID: 600181) 9q34 ODF2, ODF84 (provisional) Outer dense fiber of sperm tails 2 (OMIM ID: 602015) 9q34 PAEP, PP14 (confirmed) Progestagen-associated endometrial protein (placental protein 14) (OMIM ID: 173310) 9q34 PPP2R4, PTPA (provisional) Protein phosphatase-2A, regulatory subunit B' (PR 53) (OMIM ID: 600756) 9q34 RALGDS (provisional) ral guanine nucleotide dissociation stimulator (OMIM ID: 601619) 9q34 RING3L, ORFX (provisional) RING3-like gene (open reading frame X) (OMIM ID: 601541) 9q34 RPL7A, SURF3 (confirmed) Ribosomal protein L7a (surfeit-3) (OMIM ID: 185640) 9q34 SET (provisional) SET gene (OMIM ID: 600960) 9q34 SURF1 (confirmed) Surfeit-1 (OMIM ID: 185620) 9q34 SURF2 (confirmed) Surfeit-2 (OMIM ID: 185630) 9q34 SURF4 (confirmed) Surfeit-4 (OMIM ID: 185660) 9q34 SURF5 (confirmed) Surfeit-5 (OMIM ID: 185641) 9q34 TSC1 (confirmed) Tuberous sclerosis-1 (OMIM ID: 191100) 9q34 SURF6 (confirmed) Surfeit-6 (OMIM ID: 185642) 9q34 VAV2 (provisional) Oncogene VAV2 (OMIM ID: 600428) 9q34 XPMC2H (provisional) Prevents mitotic catastrophe 2, xenopus, homolog of (OMIM ID: 602930) 9q34 ZNF79 (provisional) Zinc finger protein-79 (pT7) (OMIM ID: 194552) 9q34.1 ABL1 (confirmed) Abelson murine leukemia viral (v-abl) oncogene homolog 1 (OMIM ID: 189980) 9q34.1 AK1 (confirmed) Adenylate kinase-1 (OMIM ID: 103000) 9q34.1 C5 (confirmed) Complement component-5 (OMIM ID: 120900) 9q34.1 CDK9, CDC2L4 (provisional) Cyclin-dependent kinase-9 (OMIM ID: 603251) 9q34.1 CRAT, CAT1 (provisional) Carnitine acetyltransferase (OMIM ID: 600184) 9q34.1 D9S46E, CAN, CAIN, NUP214 (provisional) CAIN gene (OMIM ID: 114350) 9q34.1 DAPK1 (provisional) Death-associated protein kinase-1 (OMIM ID: 600831) 9q34.1 ENDOG (provisional) Endonuclease G (OMIM ID: 600440) 9q34.1 ENG, END, HHT1, ORW (confirmed) Endoglin (OMIM ID: 131195) 9q34.1 EPB72 (confirmed) Erythrocyte membrane protein band 7.2 (stomatin) (OMIM ID: 133090) 9q34.1 LMX1B, NPS1 (confirmed) LIM homeo box transcription factor 1, beta (OMIM ID: 602575) 9q34.1 STXBP1, UNC18 (provisional) Syntaxin-binding protein 1 (OMIM ID: 602926) 9q34.1-q34.3 ORM1, AGP1 (confirmed) Orosomucoid-1 (alpha-1-acid glycoprotein-1) (OMIM ID: 138600) 9q34.1-q34.3 ORM2 (confirmed) Orosomucoid-2 (OMIM ID: 138610) 9q34.2-q34.3 COL5A1 (confirmed) Collagen V, alpha-1 polypeptide (OMIM ID: 120215) 9q34.2-q34.3 PTGDS (confirmed) Prostaglandin D2 synthase (21kD, brain) (OMIM ID: 176803) 9q34.3 C8G (confirmed) Complement component-8, gamma polypeptide (OMIM ID: 120930) 9q34.3 CEL, BSSL (confirmed) Carboxyl-ester lipase (bile-salt stimulated lipase) (OMIM ID: 114840) 9q34.3 CELL (provisional) Carboxyl-ester lipase-like (bile-salt stimulated lipase-like) (OMIM ID: 114841) 9q34.3 GRF2, C3G (provisional) Guanine nucleotide-releasing factor 2 (specific for crk (OMIM ID: 600303) 9q34.3 GRIN1, NMDAR1 (confirmed) Glutamate receptor, ionotropic, N-methyl D-aspartate 1 (OMIM ID: 138249) 9q34.3 LHX3 (provisional) LIM/homeodomain protein LHX3 (OMIM ID: 600577) 9q34.3 LPAAB (provisional) Lysophosphatidic acid acyltransferase-beta (OMIM ID: 603100) 9q34.3 NOTCH1, TAN1 (confirmed) Notch (Drosophila) homolog 1 (translocation-associated) (OMIM ID: 190198) 9q34.3 RXRA (confirmed) Retinoid X receptor, alpha (OMIM ID: 180245) C Chr.9 CCBL1 (provisional) Cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, (OMIM ID: 600547) Chr.9 FUT7 (provisional) Fucosyltransferase 7 (alpha (1,3) fucosyltransferase) (OMIM ID: 602030) Chr.9 H142T (provisional) Temperature sensitivity complementation, H142 (OMIM ID: 187290) Chr.9 IREB1 (provisional) Iron-responsive element-binding protein-1 (OMIM ID: 147581) Chr.9 VARS1 (inconsistent) Valyl-tRNA synthetase (OMIM ID: 192150) 1 10pter-p13 CALML3 (provisional) Calmodulin-like 3 (OMIM ID: 114184) 10pter-p13 HDR (tentative) Hypoparathyroidism, sensorineural deafness, renal dysplasia (OMIM ID: 146255) 10pter-p11.2 PHYH, PAHX (provisional) Phytanoyl-CoA hydroxylase (OMIM ID: 602026) 10pter-p11.2 RDPA (provisional) Refsum disease, adult, with increased pipecolicacidemia (OMIM ID: 600964) 10pter-q11 PAC1 (provisional) Prostate adenocarcinoma-1 (OMIM ID: 601188) 10p15.3-p15.2 PFKP (confirmed) Phosphofructokinase, platelet type (OMIM ID: 171840) 10p15.1 DNMT2 (confirmed) DNA methyltransferase-2 (OMIM ID: 602478) 10p15 ADARB2, RED2 (provisional) Adenosine deaminase, RNA-specific, B2 (homolog of rat BLUE) (OMIM ID: 602065) 10p15 COPEB, BCD1, ZF9 (confirmed) Core promoter element binding protein (OMIM ID: 602053) 10p15 GATA3 (provisional) GATA-binding protein-3 (OMIM ID: 131320) 10p15 GDI2, RABGDIB (provisional) GDP dissociation inhibitor 2 (OMIM ID: 600767) 10p15 ITIH2 (confirmed) Inter-alpha (globulin) inhibitor, H2 polypeptide (OMIM ID: 146640) 10p15 PRKCQ (provisional) Protein kinase C, theta (OMIM ID: 600448) 10p15-p14 CHDR (provisional) Chlordecone reductase (OMIM ID: 600451) 10p15-p14 DDH1 (provisional) Dihydrodiol dehydrogenase 1 (trans-1,2-dihydrobenzene-1,2-diol (OMIM ID: 600449) 10p15-p14 DDH2 (provisional) Dihydrodiol dehydrogenase 2 (trans-1,2-dihydrobenzene-1,2-diol (OMIM ID: 600450) 10p15-p14 IL2RA, IL2R (confirmed) Interleukin-2 receptor (OMIM ID: 147730) 10p15-p14 IL15RA (provisional) Interleukin-15 receptor, alpha (OMIM ID: 601070) 10p14-p13 DGCR2, DGS2 (confirmed) DiGeorge syndrome chromosome region-2 (OMIM ID: 601362) 10p14-p13 STAM (provisional) Signal transducing adaptor molecule (OMIM ID: 601899) 10p13 BMI1 (provisional) Oncogene BMI-1 (OMIM ID: 164831) 10p13 MRC1 (provisional) Mannose receptor, C type 1 (OMIM ID: 153618) 10p13 VIM (confirmed) Vimentin (OMIM ID: 193060) 10p12 AF10 (provisional) ALL1 fused gene from chromosome 10 (OMIM ID: 602409) 10p12 CACNB2 (provisional) Calcium channel, voltage-dependent, beta 2 subunit (OMIM ID: 600003) 10p12.1 CUBN, IFCR, MGA1 (confirmed) Cubilin (intrinsic factor-cobalamin receptor) (OMIM ID: 602997) 10p12.1-p11.2 CREM (provisional) cAMP-responsive element modulator (OMIM ID: 123812) 10p11.23 GAD2 (confirmed) Glutamate decarboxylase-2 (pancreas) (OMIM ID: 138275) 10p11.2 ABI1 (provisional) ABL-interactor 1 (OMIM ID: 603050) 10p11.2 COT, EST (provisional) Cancer Osaka thyroid oncogene (OMIM ID: 603259) 10p11.2 ITGB1, FNRB (confirmed) Integrin, beta-1 (fibronectin receptor, beta polypeptide; antigen (OMIM ID: 135630) 10p11.2 TCF8 (provisional) Transcription factor-8 (represses interleukin-2 expression) (OMIM ID: 189909) 10p11.2-q11.2 ZNF25, KOX19 (confirmed) Zinc finger protein-25 (KOX 19) (OMIM ID: 194528) 10p11-q11 IDDM10 (provisional) Insulin-dependent diabetes mellitus-10 (OMIM ID: 601942) 10p OB10 (provisional) Obesity, susceptibility to, on chromosome 10 (OMIM ID: 603188) 10p SCIDA (provisional) Severe combined immunodeficiency disease, Athabascan type (OMIM ID: 602450) 10q TIAL1, TIAR, TCBP (provisional) Tia1 cytotoxic granule-associated RNA-binding protein-like 1 (OMIM ID: 603413) 10q USH1D (provisional) Usher syndrome-1D, autosomal recessive, severe (OMIM ID: 601067) 10q11 ERCC6, CKN2 (provisional) Excision repair cross complementing rodent repair deficiency, (OMIM ID: 133540) 10q11-q21 TACR2, TAC2R, NKNAR (confirmed) Tachykinin receptor 2 (substance K receptor; neurokinin 2 receptor) (OMIM ID: 162321) 10q11-q24 ADK (confirmed) Adenosine kinase (OMIM ID: 102750) 10q11.1 SDF1 (provisional) Stromal cell-derived factor 1 (OMIM ID: 600835) 10q11.1-q24 PP (confirmed) Inorganic pyrophosphatase (OMIM ID: 179030) 10q11.2 ANX8 (provisional) Annexin VII (OMIM ID: 602396) 10q11.2 CHAT (confirmed) Choline acetyltransferase (OMIM ID: 118490) 10q11.2 ELE1 (confirmed) RET-activating gene ELE1 (OMIM ID: 601984) 10q11.2 MSMB (confirmed) Microseminoprotein, beta (OMIM ID: 157145) 10q11.2 PRKG1, PRKG1B, PRKGR1B (provisional) Protein kinase, cGMP-dependent, regulatory, type I (OMIM ID: 176894) 10q11.2 RBP3 (confirmed) Retinol-binding protein-3, interstitial (OMIM ID: 180290) 10q11.2 RET, MEN2A (confirmed) RET transforming sequence; oncogene RET (OMIM ID: 164761) 10q11.2 SLC18A3, VACHT (provisional) Solute carrier family 18 (vesicular acetylcholine), member 3 (OMIM ID: 600336) 10q11.2 ZNF11A, KOX2 (confirmed) Zinc finger protein-11a (KOX 2) (OMIM ID: 194521) 10q11.2 ZNF11B, KOX2 (confirmed) Zinc finger protein-11b (KOX 2) (OMIM ID: 194522) 10q11.2 ZNF22, KOX15 (confirmed) Zinc finger protein-22 (KOX15) (OMIM ID: 194529) 10q11.2-q21 MBL2, MBL, MBP1 (confirmed) Mannose-binding lectin 2, soluble (opsonic defect) (OMIM ID: 154545) 10q11.2-q21.1 GPR7 (provisional) G protein-coupled receptor-7 (OMIM ID: 600730) 10q11.2-q21.2 PPYR1, NPY4R, PP1 (provisional) Pancreatic polypeptide receptor-1 (OMIM ID: 601790) 10q11.21-q11.22 HNRPF (confirmed) Heterogeneous nuclear ribonucleoprotein F (OMIM ID: 601037) 10q21 ANK3 (provisional) Ankyrin-3, node of Ranvier (OMIM ID: 600465) 10q21 D10S170, H4, TST1, PTC, TPC (confirmed) RET-activating gene H4 (OMIM ID: 601985) 10q21 SGPL1, SPL (tentative) Sphingosine-1-phosphate lyase 1 (OMIM ID: 603729) 10q21 TFAM, TCF6L2 (provisional) Transcription factor A, mitochondrial (OMIM ID: 600438) 10q21-q22 DFNB12 (provisional) Deafness, autosomal recessive 12 (OMIM ID: 601386) 10q21-q22 EIF4EBP2, 4EBP2 (provisional) Eukaryotic translation initiation factor-4E binding protein-1 (OMIM ID: 602224) 10q21-q22 HPLH2 (provisional) Hemophagocytic lymphohistiocytosis, familial, 2 (OMIM ID: 603553) 10q21-q22 PPP3CB, CALNB (confirmed) Protein phosphatase-3 (formerly 2B), catalytic subunit, beta isoform (OMIM ID: 114106) 10q21-q23 CMD1C, CMPD3 (provisional) Cardiomyopathy, dilated-1C, autosomal dominant (OMIM ID: 601493) 10q21-q24 HTR7 (provisional) 5-hydroxytryptamine (serotonin) receptor-7, adenylate cyclase-coupled (OMIM ID: 182137) 10q21.1 CDC2 (confirmed) Cell division cycle 2, G1 to S and G2 to M (OMIM ID: 116940) 10q21.1-q21.2 ANX7, SNX (provisional) Annexin VII (synexin) (OMIM ID: 186360) 10q21.1-q22.1 EGR2, KROX20 (provisional) KROX-20, Drosophila, homolog (early growth response-2) (OMIM ID: 129010) 10q21.3-q22.1 DNA2L (provisional) DNA2 (DNA replication helicase, yeast, homolog)-like (OMIM ID: 601810) 10q21.3-q23.1 P4HA1, P4HA (confirmed) Procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline (OMIM ID: 176710) 10q21.3-q22.1 SLC25A16, D10S105E, GDA (provisional) Solute carrier family 25 (mitochondrial carrier), member 16 (OMIM ID: 139080) 10q22 CAMKG (provisional) Calcium/calmodulin-dependent protein kinase (CaM kinase) gamma (OMIM ID: 602123) 10q22 COL13A1 (confirmed) Collagen XIII, alpha-1 polypeptide (OMIM ID: 120350) 10q22 HK1 (confirmed) Hexokinase-1 (OMIM ID: 142600) 10q22 HNRPH3, 2H9 (provisional) Heterogeneous nuclear ribonucleoprotein H3 (OMIM ID: 602324) 10q22 MAT1A, MATA1, SAMS1 (provisional) Methionine adenosyltransferase I, alpha (OMIM ID: 250850) 10q22 NCST2 (provisional) N-deacetylase/N-sulfotransferase 2 (OMIM ID: 603268) 10q22 PCBD, DCOH (confirmed) Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic (OMIM ID: 126090) 10q22 PRF1 (provisional) Perforin (OMIM ID: 170280) 10q22-q23 SFTPA2 (tentative) Surfactant, pulmonary-associated protein A2 (OMIM ID: 178642) 10q22-q23 RPS24 (provisional) Ribosomal protein S24 (OMIM ID: 602412) 10q22-q24 ACTA2, ACTSA (provisional) Actin, alpha-2, smooth muscle, aorta (OMIM ID: 102620) 10q22.1 PRG1, PRG (confirmed) Proteoglycan 1, secretory granule (platelet proteoglycan protein core) (OMIM ID: 177040) 10q22.1 PSAP, SAP1 (confirmed) Prosaposin (sphingolipid activator protein-1) (OMIM ID: 176801) 10q22.1-q23 VCL (confirmed) Vinculin (OMIM ID: 193065) 10q22.2-q23.1 SFTPA1, SFTP1 (confirmed) Surfactant, pulmonary-associated protein A1 (OMIM ID: 178630) 10q22.3 BMPR1A, ACVRLK3, ALK3 (provisional) Bone morphogenetic protein receptor, type IA (OMIM ID: 601299) 10q22.3-q23.1 ANX11 (provisional) Annexin XI (OMIM ID: 602572) 10q23 RGR (confirmed) Retinal G protein coupled receptor (OMIM ID: 600342) 10q23 SMNR, SPF30 (provisional) Survival motor neuron-related protein (OMIM ID: 603519) 10q23-q24 ATPSK2 (provisional) ATP sulfurylase/APS kinase 2 (OMIM ID: 603005) 10q23-q24 CYP26A1 (provisional) Cytochrome p450, subfamily XXVIA, polypeptide 1 (OMIM ID: 602239) 10q23-q24 DNTT, TDT (confirmed) Terminal deoxynucleotidyltransferase (OMIM ID: 187410) 10q23-q24 IFI54, G10P2 (confirmed) Interferon, alpha-inducible protein (MW 54kD) (OMIM ID: 147040) 10q23-q24 IFI56, G10P1, IFNAI1 (confirmed) Interferon, alpha-inducible protein (MW 56kD) (OMIM ID: 147690) 10q23-q24 PPP1R5 (provisional) Phosphatase 1, regulatory inhibitor subunit 5 (OMIM ID: 602999) 10q23-q24 UFS (provisional) Urofacial syndrome (Ochoa syndrome) (OMIM ID: 236730) 10q23-q24 ZNF32, KOX30 (provisional) Zinc finger protein-32 (KOX30) (OMIM ID: 194539) 10q23-q25 IDE (confirmed) Insulin-degrading enzyme (OMIM ID: 146680) 10q23.1-q23.3 HPS (confirmed) Hermansky-Pudlak syndrome (OMIM ID: 203300) 10q23.2-q23.3 SNCG, BCSG1 (confirmed) Synuclein, gamma (breast cancer-specific gene 1) (OMIM ID: 602998) 10q23.2-q23.33 NDUFB8 (confirmed) NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG) (OMIM ID: 602140) 10q23.3 GLUD1 (confirmed) Glutamate dehydrogenase-1 (OMIM ID: 138130) 10q23.3 PTEN, MMAC1 (confirmed) Phosphatase and tensin homolog (mutated in multiple advanced cancers (OMIM ID: 601728) 10q23.3 SFTPD, SFTP4 (confirmed) Surfactant, pulmonary-associated protein D (OMIM ID: 178635) 10q23.3-q24.1 EPT (confirmed) Epilepsy, partial (OMIM ID: 600512) 10q23.3-q24.1 SPG9 (provisional) Spastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts (OMIM ID: 601162) 10q23.3-q24.3 PEO, PEO1 (provisional) Progressive external ophthalmoplegia, type 1 (OMIM ID: 157640) 10q24 CD39 (provisional) CD39 antigen (OMIM ID: 601752) 10q24 CDB2, CDTB (provisional) Corneal dystrophy, Thiel-Behnke type (OMIM ID: 602082) 10q24 CMOAT (provisional) Canalicular multispecific organic anion transporter (OMIM ID: 601107) 10q24 CYP2C9 (provisional) Cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), (OMIM ID: 601130) 10q24 FGF8 (confirmed) Fibroblast growth factor-8 (OMIM ID: 600483) 10q24 GBF1 (provisional) Golgi-specific brefeldin-A resistance factor 1 (OMIM ID: 603698) 10q24 HOX11, TCL3 (confirmed) Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to (OMIM ID: 186770) 10q24 IOSCA, SCA8 (provisional) Infantile-onset spinocerebellar ataxia (OMIM ID: 271245) 10q24 NFKB2, LYT10 (confirmed) Nuclear factor of kappa light chain gene enhancer in B-cells 2 (OMIM ID: 164012) 10q24 PDE6C, PDEA2 (provisional) Phosphodiesterase-6C, cGMP-specific, cone, alpha prime (OMIM ID: 600827) 10q24 PLAU, URK (confirmed) Plasminogen activator, urokinase (OMIM ID: 191840) 10q24 PSD (provisional) Pleckstrin and Sec7 domain protein (OMIM ID: 602327) 10q24 RBP4 (confirmed) Retinol-binding protein-4, interstitial (OMIM ID: 180250) 10q24 SHFM3 (confirmed) Split hand/foot malformation (ectrodactyly) type 3 (OMIM ID: 600095) 10q24 WNT8B (provisional) Wingless-type MMTV integration site family, member 8B (OMIM ID: 601396) 10q24-q25 LDB1, CLIM2, NLI (provisional) LIM domain-binding factor-1 (OMIM ID: 603451) 10q24-q25 LIPA (confirmed) Lipase A, lysosomal acid, cholesterol esterase (OMIM ID: 278000) 10q24-q25.2 TAF2D, TAFII100 (provisional) TATA box binding protein (TBP)-associated factor, RNA polymerase II, (OMIM ID: 601787) 10q24-q26 ADRA2A, ADRA2R (confirmed) Adrenergic, alpha-2A-, receptor (OMIM ID: 104210) 10q24-q26 ADRB1, ADRB1R (confirmed) Adrenergic, beta-1-, receptor (OMIM ID: 109630) 10q24-q26 GPAM (tentative) Glycerol-3-phosphate acyltransferase (OMIM ID: 602395) 10q24-q26 NRAP (provisional) Nebulin-related anchoring protein (OMIM ID: 602873) 10q24-qter GPRK5, GRK5 (provisional) G protein-coupled receptor kinase-5 (OMIM ID: 600870) 10q24.1 KNSL1 (provisional) Kinesin-like-1 (OMIM ID: 148760) 10q24.1 TNFRSF6, APT1, FAS, CD95 (confirmed) Tumor necrosis factor receptor superfamily, member 6 (OMIM ID: 134637) 10q24.1-q24.3 CYP2C, CYP2C19 (confirmed) Cytochrome P450, subfamily IIC (mephenytoin 4'-hydroxylase) (OMIM ID: 124020) 10q24.1-q25.1 GOT1 (confirmed) Glutamic-oxaloacetic transaminase-1, soluble (EC 2.6.1.1) (OMIM ID: 138180) 10q24.2-q24.3 ADD3, ADDL (provisional) Adducin-3, gamma (OMIM ID: 601568) 10q24.3 COL17A1, BPAG2 (confirmed) Collagen XVII, alpha-1 polypeptide (OMIM ID: 113811) 10q24.3 CYP17, P450C17 (confirmed) Cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase) (OMIM ID: 202110) 10q24.3 PYCS, GSAS (confirmed) Pyrroline-5-carboxlate synthetase (OMIM ID: 138250) 10q24.3-q25.1 PAX2 (confirmed) Paired box homeotic gene-2 (OMIM ID: 167409) 10q24.3-qter CYP2E, CYP2E1, P450C2E (confirmed) Cytochrome P450, subfamily IIE, ethanol-inducible (OMIM ID: 124040) 10q25 DUSP5, HVH3 (provisional) Dual-specificity phosphatase-5 (OMIM ID: 603069) 10q25 IDDM17 (provisional) Insulin-dependent diabetes mellitus-17 (OMIM ID: 603266) 10q25 LIMAB1 (provisional) LIM actin-binding protein-1 (OMIM ID: 602330) 10q25 MXI1 (confirmed) MAX-interacting protein 1 (OMIM ID: 600020) 10q25 PITX3 (provisional) Paired-like homeodomain transcription factor-3 (OMIM ID: 602669) 10q25 SHOC2 (provisional) Suppressor of clear, C. elegans, homolog of (OMIM ID: 602775) 10q25 SLC18A2, VAT2, SVMT (confirmed) Solute carrier family 18 (vesicular monoamine), member 2 (OMIM ID: 193001) 10q25-q26 ACADSB (provisional) Acyl-Coenzyme A dehydrogenase, short/branched chain (OMIM ID: 600301) 10q25-qter MKI67 (provisional) Proliferation-related Ki-67 antigen (OMIM ID: 176741) 10q25.1 NEURL (provisional) Neuralized, drosophila, homolog-like (OMIM ID: 603804) 10q25.1-q25.2 CASP7, MCH3 (provisional) Caspase 7, apoptosis-related cysteine protease (OMIM ID: 601761) 10q25.2-q26.3 HMX2 (provisional) Homeo box (H6 family) 2 (OMIM ID: 600647) 10q25.2-q26.3 UROS (provisional) Uroporphyrinogen III synthase (OMIM ID: 263700) 10q25.3 PGAM1 (provisional) Phosphoglycerate mutase A, nonmuscle form (OMIM ID: 172250) 10q25.3-q26 GPR10 (provisional) G protein-coupled receptor-10 (OMIM ID: 600895) 10q25.3-q26.1 DMBT1 (provisional) Deleted in malignant brain tumors 1 (OMIM ID: 601969) 10q25.3-q26.2 PRSS11 (provisional) Protease, serine, 11, IGF binding (OMIM ID: 602194) 10q25.3-q26.3 ADORA2L1, ADORA2L (provisional) Adenosine A2 receptor-like 1 (OMIM ID: 102777) 10q26 DEC (confirmed) Deleted in endometrial carcinoma (OMIM ID: 602084) 10q26 EIF3S10, P167 (provisional) Eukaryotic translation initiation factor 3, subunit 10, 170kD (OMIM ID: 602039) 10q26 FGFR2, BEK, CFD1, JWS (confirmed) Fibroblast growth factor receptor-2 (bacteria-expressed kinase) (OMIM ID: 176943) 10q26 GFRA1, GDNFRA, GDNFR (confirmed) GDNF family receptor, alpha-1 (OMIM ID: 601496) 10q26 MGMT (confirmed) Methylguanine-DNA methyltransferase (OMIM ID: 156569) 10q26 OAT (confirmed) Ornithine aminotransferase (OMIM ID: 258870) 10q26 OATL3 (provisional) Ornithine aminotransferase-like 3 (OMIM ID: 165635) 10q26 PTPRE (confirmed) Protein tyrosine phosphatase, receptor type, epsilon (OMIM ID: 600926) 10q26.1 EMX2 (provisional) Empty spiracles (Drosophila) homolog 2 (OMIM ID: 600035) 10q26.1 PNLIP (provisional) Pancreatic lipase (OMIM ID: 246600) 10q26.13-q26.3 DOCK1, DOCK180 (provisional) Dedicator of cytokinesis-1 (OMIM ID: 601403) 10q26.2-q26.3 ECHS1, SCEH (provisional) Enoyl-CoA hydratase, short-chain, 1, mitochondrial (OMIM ID: 602292) 10q26.3 ADAM8, CD156 (provisional) A disintegrin and metalloprotease domain 8 (OMIM ID: 602267) 10q26.3 ADAM12, MLTN (provisional) A disintegrin and metalloproteinase domain 12 (Meltrin-alpha, mouse, (OMIM ID: 602714) 10q26.3 INPP5A (provisional) Inositol polyphosphate-5-phosphatase, 40kD (OMIM ID: 600106) C Chr.10 ALOX5 (provisional) Arachidonate 5-lipoxygenase (OMIM ID: 152390) Chr.10 CPN1, SCPN, CPN (provisional) Carboxypeptidase N, polypeptide 1, 50-kD (OMIM ID: 603103) Chr.10 CUL4B (tentative) Cullin-4B (OMIM ID: 603138) Chr.10 FUSE (provisional) Polykaryocytosis inducer (OMIM ID: 174750) Chr.10 GLC1E (provisional) Glaucoma 1, open angle, E (OMIM ID: 602432) Chr.10 HEP10 (provisional) Hepatic protein 10 (OMIM ID: 142390) Chr.10 KCNMA1, SLO (provisional) Potassium large conductance calcium-activated channel, subfamily M, (OMIM ID: 600150) Chr.10 M130 (provisional) External membrane protein-130 (OMIM ID: 133710) Chr.10 PROA (provisional) Proline(-) auxotroph, complementation of (OMIM ID: 176770) Chr.10 RSU1 (provisional) Ras suppressor protein 1 (OMIM ID: 179555) Chr.10 TPL2 (tentative) Tumor progression locus-2 (OMIM ID: 191195) Chr.10 USH1F (provisional) Usher syndrome-1F, autosomal recessive, severe (OMIM ID: 602083) 1 11pter-p15.4 BWS, WBS (confirmed) Beckwith-Wiedemann syndrome (OMIM ID: 130650) 11pter-p13 AMPD3 (provisional) Adenosine monophosphate deaminase-3 (isoform E) (OMIM ID: 102772) 11pter-p13 CD44, MDU2, MDU3, MIC4 (provisional) CD44 antigen (homing function) (OMIM ID: 107269) 11pter-p11.2 TP250 (provisional) T-cell activation antigen p250 (OMIM ID: 186710) 11p15.5 AMCD2B, DA2B, FSSV (provisional) Arthrogryposis multiplex congenita, distal, type 2B (OMIM ID: 601680) 11p15.5 ASCL2 (provisional) Achaete-scute complex (Drosophila) homolog-like 2 (OMIM ID: 601886) 11p15.5 BWSCR1A, BWR1A (provisional) Beckwith-Wiedemann region 1A (OMIM ID: 602631) 11p15.5 BWSCR1B, BWR1B (provisional) Beckwith-Wiedemann region 1B (OMIM ID: 603240) 11p15.5 C11orf13, HRC1 (provisional) HRAS1-related cluster-1 (OMIM ID: 143023) 11p15.5 CARS (provisional) Cysteinyl-tRNA synthetase (OMIM ID: 123859) 11p15.5 CD151, PETA3, SFA1 (provisional) CD151 antigen (OMIM ID: 602243) 11p15.5 CDKN1C, KIP2 (confirmed) Cyclin-dependent kinase inhibitor 1C (p57, Kip2) (OMIM ID: 600856) 11p15.5 CLN2 (confirmed) Ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky (OMIM ID: 204500) 11p15.5 CTSD, CPSD (confirmed) Cathepsin D (lysosomal aspartyl protease) (OMIM ID: 116840) 11p15.5 DRD4 (confirmed) Dopamine receptor D4 (OMIM ID: 126452) 11p15.5 DUSP8, HVH8 (provisional) Dual specificity phosphatase-8 (OMIM ID: 602038) 11p15.5 H19, D11S813E, ASM1 (confirmed) H19 gene (OMIM ID: 103280) 11p15.5 IDDM2 (confirmed) Insulin-dependent diabetes mellitus-2 (OMIM ID: 125852) 11p15.5 IMPT1 (provisional) Imprinted polyspecific membrane transporter-1 (OMIM ID: 602599) 11p15.5 KCNQ1, KCNA9, LQT1, KVLQT1 (confirmed) Potassium voltage-gated channel, KQT-like subfamily, member 1 (OMIM ID: 192500) 11p15.5 MER2 (confirmed) Red blood cell antigen MER2 (OMIM ID: 179620) 11p15.5 MUC2 (confirmed) Mucin 2, intestinal/tracheal (OMIM ID: 158370) 11p15.5 MUC5AC, MUC5 (confirmed) Mucin 5, subtypes A and C, tracheobronchial/gastric (OMIM ID: 158373) 11p15.5 NAGC@, HBBC@ (confirmed) NON-ALPHA GLOBIN CLUSTER (OMIM ID: ) 11p15.5 HBB (confirmed) Hemoglobin beta (OMIM ID: 141900) 11p15.5 HBD (confirmed) Hemoglobin delta (OMIM ID: 142000) 11p15.5 HBGR (confirmed) Hemoglobin, gamma, regulator of (OMIM ID: 142270) 11p15.5 HBG1 (confirmed) Hemoglobin, gamma A (OMIM ID: 142200) 11p15.5 HBG2 (confirmed) Hemoglobin, gamma G (OMIM ID: 142250) 11p15.5 HBE1 (confirmed) Hemoglobin epsilon (OMIM ID: 142100) 11p15.5 HRAS (confirmed) Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog (OMIM ID: 190020) 11p15.5 IGF2 (confirmed) Insulin-like growth factor-2, or somatomedin A (OMIM ID: 147470) 11p15.5 INS (confirmed) Insulin (OMIM ID: 176730) 11p15.5 KRN1L (provisional) Keratin, hair cuticle, ultrahigh-sulfur, 1-like (OMIM ID: 148022) 11p15.5 LSP1 (provisional) Lymphocyte-specific protein pp52 (OMIM ID: 153432) 11p15.5 MTACR1, WT2 (confirmed) Multiple tumor associated chromosome region-1 (OMIM ID: 194071) 11p15.5 NAP1L4, NAP2L, NAP2 (provisional) Nucleosome assembly protein 1-like 4 (OMIM ID: 601651) 11p15.5 RNH (confirmed) Placental ribonuclease inhibitor (OMIM ID: 173320) 11p15.5 RPL23L, L23MRP, MRPL23 (provisional) Ribosomal protein L23-like (L23 mitochondrial-related protein) (OMIM ID: 600789) 11p15.5 RRM1 (confirmed) Ribonucleotide reductase, M1 polypeptide (OMIM ID: 180410) 11p15.5 SSA1, RO52 (provisional) Sjogren syndrome antigen A1 (52kD, ribonucleoprotein autoantigen (OMIM ID: 109092) 11p15.5 TH, TYH (confirmed) Tyrosine hydroxylase (OMIM ID: 191290) 11p15.5 TNNI2 (provisional) Troponin I, fast-twitch skeletal muscle isoform (OMIM ID: 191043) 11p15.5 TNNT3 (provisional) Troponin-T3, skeletal, fast (OMIM ID: 600692) 11p15.5 TSSC3, IPL, BRW1C (provisional) Tumor-suppressing subtransferable candidate-3 (OMIM ID: 602131) 11p15.5 ZNF195 (provisional) Zinc finger protein-195 (OMIM ID: 602187) 11p15.5-p15.4 ARHG (provisional) ras homolog gene family, member G (rho G) (OMIM ID: 179505) 11p15.5-p15.4 CCKBR, GASR (confirmed) Cholecystokinin B receptor (OMIM ID: 118445) 11p15.5-p15.4 HPX (confirmed) Hemopexin (OMIM ID: 142290) 11p15.5-p15.4 ILK, P59 (provisional) Integrin-linked kinase (OMIM ID: 602366) 11p15.5-p15.4 MUC6 (provisional) Mucin 6, gastric (OMIM ID: 158374) 11p15.5-p15.4 TALDO1 (provisional) Transaldolase-1 (OMIM ID: 602063) 11p15.5-p15.3 LDHC, LDH3 (confirmed) Lactate dehydrogenase C (OMIM ID: 150150) 11p15.4 ADM (confirmed) Adrenomedullin (OMIM ID: 103275) 11p15.4 LDHA, LDH1 (confirmed) Lactate dehydrogenase A (OMIM ID: 150000) 11p15.4 MYOD1, MYF3 (confirmed) Myogenic factor-3 (OMIM ID: 159970) 11p15.4-p15.1 SMPD1, NPD (provisional) Sphingomyelin phosphodiesterase-1, acid lysosomal (OMIM ID: 257200) 11p15.3 TAF2H, TAF2A (confirmed) TATA box binding protein (TBP)-associated factor, RNA polymerase II, (OMIM ID: 600475) 11p15.3-p15.1 PTH (confirmed) Parathyroid hormone (OMIM ID: 168450) 11p15.3-p15.1 WEE1 (provisional) wee1+ (S. pombe) human homolog (OMIM ID: 193525) 11p15.3-p14 TPH (confirmed) Tryptophan hydroxylase (tryptophan-5-monooxygenase) (OMIM ID: 191060) 11p15.2 TCF13 (provisional) Transcription factor-13 (SV40 transcriptional enhancer factor) (OMIM ID: 189967) 11p15.2-p15.1 CALCA, CALC1 (confirmed) Calcitonin/calcitonin-related polypeptide, alpha (OMIM ID: 114130) 11p15.2-p15.1 CALCB, CALC2 (confirmed) Calcitonin-related polypeptide, beta (OMIM ID: 114160) 11p15.2-p15.1 NELL1 (provisional) Nel-like 1 (OMIM ID: 602319) 11p15.2-p15.1 PTPN5, STEP (provisional) Protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (OMIM ID: 176879) 11p15.2-p15.1 TSG101 (provisional) Tumor susceptibility gene 101 (OMIM ID: 601387) 11p15.2-p14.3 GAS2 (provisional) Growth arrest-specific 2 (OMIM ID: 602835) 11p15.1 KCNJ11, BIR, PHHI (provisional) Potassium inwardly-rectifying channel, subfamily J, member 11 (OMIM ID: 600937) 11p15.1 LMO4, CLP (provisional) LIM domain only 4 (cardiac LIM protein) (OMIM ID: 600824) 11p15.1 PSMA1, PROS30 (provisional) Proteasome subunit, alpha-type, 1 (OMIM ID: 602854) 11p15.1 SAA1 (confirmed) Serum amyloid A1 (OMIM ID: 104750) 11p15.1 SAA2 (confirmed) Serum amyloid A2 (OMIM ID: 104751) 11p15.1 SAA4 (confirmed) Serum amyloid A4, constitutive (OMIM ID: 104752) 11p15.1 SUR, PHHI, SUR1 (confirmed) Sulfonylurea receptor (OMIM ID: 600509) 11p15.1 USH1C (confirmed) Usher syndrome-1C, autosomal recessive, severe (OMIM ID: 276904) 11p15.1-p14 DFNB18 (provisional) Deafness, autosomal recessive 18 (OMIM ID: 602092) 11p15.1-p14 GTF2H1 (confirmed) General transcription factor IIH, polypeptide 1 (62kD subunit) (OMIM ID: 189972) 11p15 AA (provisional) Atrophia areata (OMIM ID: 108985) 11p15 APBB1, FE65 (provisional) Amyloid beta A4 precursor protein-binding, family B, member-1 (OMIM ID: 602709) 11p15 ARNTL, BMAL1, TIC (provisional) Aryl hydrocarbon receptor nuclear translocator-like (OMIM ID: 602550) 11p15 ART1 (provisional) ADP-ribosyltransferase 1 (OMIM ID: 601625) 11p15 EIF4G2, DAP5 (provisional) Eukaryotic translation initiation factor 4G-like 1 (OMIM ID: 602325) 11p15 KCNC1 (confirmed) Potassium voltage-gated channel, Shaw-related subfamily, member 1 (OMIM ID: 176258) 11p15 LMO1, RBTN1, RHOM1 (confirmed) LIM domain only 1 (rhombotin 1) (OMIM ID: 186921) 11p15 MUC5B (provisional) Mucin 5, subtype B, tracheobronchial (OMIM ID: 600770) 11p15 NUP98 (confirmed) Nucleoporin, 98kD (OMIM ID: 601021) 11p15 PDE3B (provisional) Phosphodiesterase-3B, cGMP-inhibited (OMIM ID: 602047) 11p15 ST5, HTS1 (provisional) Suppression of tumorigenicity-5 (OMIM ID: 140750) 11p14.3-p12 ST2 (provisional) Suppression of tumorigenicity-2 (OMIM ID: 185440) 11p14.2-p14.1 HSPCAL3 (provisional) Heat-shock 90kD protein, alpha-like-3 (OMIM ID: 140575) 11p14-p13 D11S302E, 239FB (provisional) Fetal brain protein 239 (OMIM ID: 600911) 11p14-p13 HVBS1 (confirmed) Hepatitis B virus integration site-1 (OMIM ID: 114550) 11p13 BDNF (confirmed) Brain-derived neurotrophic factor (OMIM ID: 113505) 11p13 CAT (confirmed) Catalase (OMIM ID: 115500) 11p13 CD59 (confirmed) CD59 antigen (p18-20) (OMIM ID: 107271) 11p13 FSHB (confirmed) Follicle-stimulating hormone, beta polypeptide (OMIM ID: 136530) 11p13 LMO2, RBTNL1, RHOM2, TTG2 (provisional) LIM domain only 2 (rhombotin-like 1) (OMIM ID: 180385) 11p13 M11S1 (provisional) Membrane component, chromosome 11, surface marker 1 (OMIM ID: 601178) 11p13 MIC11 (confirmed) Antigen identified by monoclonal antibody 16.3A5 (OMIM ID: 143065) 11p13 PAX6, AN2 (confirmed) Paired box homeotic gene-6 (OMIM ID: 106210) 11p13 PDX1 (confirmed) Pyruvate dehydrogenase complex, lipoyl-containing component X (OMIM ID: 245349) 11p13 RAG1 (confirmed) Recombination activating gene-1 (OMIM ID: 179615) 11p13 RAG2 (confirmed) Recombination activating gene-2 (OMIM ID: 179616) 11p13 RCN1 (provisional) Reticulocalbin 1 (OMIM ID: 602735) 11p13 TCL2 (provisional) T-cell leukemia/lymphoma-2 (OMIM ID: 151390) 11p13 WT1 (confirmed) Wilms tumor-1 (OMIM ID: 194070) 11p13-p12 LHX1, LIM1 (inconsistent) LIM homeo box protein 1 (OMIM ID: 601999) 11p13-p12 PSMC3, TBP1 (provisional) Proteasome (prosome, macropain) 26S subunit, ATPase, 3 (OMIM ID: 186852) 11p13-p12 SLC1A2, EAAT2 (confirmed) Solute carrier family 1 (glial high affinity glutamate transporter), (OMIM ID: 600300) 11p12-p11.22 SPI1 (provisional) Oncogene SPI1 (OMIM ID: 165170) 11p12-p11.2 CHRM4 (confirmed) Cholinergic receptor, muscarinic, 4 (OMIM ID: 118495) 11p12-p11.12 PFM, FPP (provisional) Foramina parietalia permagna (Catlin marks) (OMIM ID: 168500) 11p12-p11 ACP2 (confirmed) Acid phosphatase 2, lysosomal (OMIM ID: 171650) 11p12-p11 DDB2 (provisional) Damage-specific DNA binding protein 2 (48kD) (OMIM ID: 600811) 11p12-p11 EXT2 (confirmed) Exostoses (multiple) 2 (OMIM ID: 133701) 11p12-q13 ACRV1 (provisional) Acrosomal vesicle protein-1 (OMIM ID: 102525) 11p11.23-p11.22 EBP, CDPX2, CPXD, CPX (provisional) Emopamil-binding protein (OMIM ID: 603938) 11p11.2 MADD, DENN (provisional) MAP kinase-activating death domain (differentially expressed in (OMIM ID: 603584) 11p11.2 MDK, NEGF2 (confirmed) Midkine (neurite growth-promoting factor 2) (OMIM ID: 162096) 11p11.2 MYBPC3, CMH4 (confirmed) Myosin-binding protein C, cardiac (OMIM ID: 600958) 11p11.2 KAI1, ST6, CD82, SAR2 (provisional) Kangai 1 (suppression of tumorigenicity 6, prostate) (OMIM ID: 600623) 11p11.2 PTPRJ, DEP1 (provisional) Protein tyrosine phosphatase, receptor type, J polypeptide (OMIM ID: 600925) 11p11.2 TYRL (provisional) Tyrosinase-like (OMIM ID: 191270) 11p11.2-p11.1 CHST1, KSGAL6ST (confirmed) Carbohydrate sulfotransferase-1 (OMIM ID: 603797) 11p11.2-p11.1 POV1 (provisional) Prostate cancer overexpressed gene 1 (OMIM ID: 603733) 11p11.2-p11.1 RAPSN (provisional) Receptor-associated protein of the synapse, 43kD (OMIM ID: 601592) 11p11.11 NDUFS3 (confirmed) NADH-ubiquinone oxidoreductase Fe-S protein 3 (OMIM ID: 603846) 11p11-q11 SCA5 (provisional) Spinocerebellar ataxia 5 (OMIM ID: 600224) 11p11-q12 F2 (confirmed) Coagulation factor II (thrombin) (OMIM ID: 176930) 11p CD81, TAPA1 (provisional) CD81 antigen (target of antiproliferative antibody-1) (OMIM ID: 186845) 11p INLU (provisional) Lutheran inhibitor, dominant (monoclonal antibody A3D8) (OMIM ID: 111150) 11p NNO1 (provisional) Nanophthalmos 1 (OMIM ID: 600165) 11p RPL27A (provisional) Ribosomal protein L27a (OMIM ID: 603637) 11p SYT5 (tentative) Synaptotagmin-5 (OMIM ID: 600782) 11cen-q13 ADRBK1 (confirmed) Adrenergic, beta, receptor kinase-1 (OMIM ID: 109635) 11q ECB2 (provisional) Erythrocytosis, autosomal recessive benign (OMIM ID: 263400) 11q11 CTNND1, CTNND (provisional) Catenin (cadherin-associated protein), delta 1 (OMIM ID: 601045) 11q11-q12 TCN1, TC1 (provisional) Transcobalamin I (OMIM ID: 189905) 11q11-q13.1 C1NH (confirmed) Complement component-1 inhibitor (OMIM ID: 106100) 11q12 LTBP3, LTBP2 (confirmed) Latent transforming growth factor beta binding protein-3 (OMIM ID: 602090) 11q12 AGTRL1, APJ (provisional) Angiotensin receptor-like 1 (OMIM ID: 600052) 11q12 ESRRA, ESRL1 (provisional) Estrogen-related receptor, alpha (OMIM ID: 601998) 11q12 FEN1 (provisional) Flap structure-specific endonuclease 1 (OMIM ID: 600393) 11q12 P2RX3, P2X3 (provisional) Purinergic receptor P2X, ligand-gated ion channel, 3 (OMIM ID: 600843) 11q12-q13 AHNAK (provisional) AHNAK nucleoprotein (desmoyokin) (OMIM ID: 103390) 11q12-q13 DDB1 (provisional) Damage-specific DNA binding protein 1 (127kD) (OMIM ID: 600045) 11q12-q13 DHCR7, SLOS (provisional) Delta-7-dehydrocholesterol reductase (OMIM ID: 602858) 11q12-q13 EMK1 (provisional) ELKL motif kinase (OMIM ID: 600526) 11q12-q13 HBM (provisional) High bone mass (OMIM ID: 601884) 11q12-q13 IGER, APY (confirmed) IgE responsiveness (atopic) (OMIM ID: 147050) 11q12-q13 FTH1, FTHL6 (confirmed) Ferritin, heavy polypeptide 1 (OMIM ID: 134770) 11q12-q13 OPTB1 (provisional) Osteopetrosis, autosomal recessive (OMIM ID: 259700) 11q12-q13 OPPG (provisional) Osteoporosis-pseudoglioma syndrome (OMIM ID: 259770) 11q12-q13 OSBP (confirmed) Oxysterol-binding protein (OMIM ID: 167040) 11q12-q13 RELA, NFKB3 (confirmed) v-rel avian reticuloendotheliosis viral oncogene homolog A (nuclear (OMIM ID: 164014) 11q12.1-q13.5 FNL2 (provisional) Fibronectin-like-2 (OMIM ID: 135610) 11q12.2 CNTF (confirmed) Ciliary neurotrophic factor (OMIM ID: 118945) 11q12.3-q13.1 UGB, CC10, CCSP (confirmed) Uteroglobin (Clara-cell specific 10-kD protein) (OMIM ID: 192020) 11q13 ARL2 (provisional) ADP=ribosylation factor-like 2 (OMIM ID: 601175) 11q13 ARRB1 (confirmed) Arrestin, beta 1 (OMIM ID: 107940) 11q13 BBS1 (confirmed) Bardet-Biedl syndrome 1 (OMIM ID: 209901) 11q13 CAPN1 (confirmed) Calpain, large polypeptide L1 (OMIM ID: 114220) 11q13 CCND1, PRAD1 (confirmed) Cyclin D1 (OMIM ID: 168461) 11q13 CD5, LEU1 (confirmed) CD5 antigen (p56-62) (OMIM ID: 153340) 11q13 CD20 (confirmed) CD20 antigen (OMIM ID: 112210) 11q13 CFL1 (confirmed) Cofilin 1 (non-muscle) (OMIM ID: 601442) 11q13 CHRM1 (provisional) Cholinergic receptor, muscarinic, 1 (OMIM ID: 118510) 11q13 COX8 (confirmed) Cytochrome c oxidase, subunit VIII (OMIM ID: 123870) 11q13 CPT1A (confirmed) Carnitine palmitoyltransferase I, liver (OMIM ID: 600528) 11q13 CST6 (provisional) Cystatin-M (OMIM ID: 601891) 11q13 EMS1 (provisional) ems1 sequence (mammary tumor and squamous cell carcinoma-associated (OMIM ID: 164765) 11q13 FAU (confirmed) Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously (OMIM ID: 134690) 11q13 FCER1B (confirmed) Fc fragment of IgE, high affinity I, receptor for, beta polypeptide (OMIM ID: 147138) 11q13 FGF4, HSTF1 (confirmed) Fibroblast growth factor-4 (heparin secretory transforming protein-1; (OMIM ID: 164980) 11q13 FGF3, INT2 (confirmed) Fibroblast growth factor-3 (oncogene INT2) (OMIM ID: 164950) 11q13 FOSL1 (provisional) FOS-like antigen-1 (OMIM ID: 136515) 11q13 GIF (confirmed) Gastric intrinsic factor (OMIM ID: 261000) 11q13 GSTP1, GST3 (confirmed) Glutathione S-transferase pi (OMIM ID: 134660) 11q13 HND (tentative) Hartnup disorder (OMIM ID: 234500) 11q13 IDDM4 (confirmed) Insulin-dependent diabetes mellitus-4 (OMIM ID: 600319) 11q13 MDU1, NACAE (confirmed) Antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and (OMIM ID: 158070) 11q13 MEN1 (confirmed) Menin (OMIM ID: 131100) 11q13 MKS2 (provisional) Meckel syndrome, type 2 (OMIM ID: 603194) 11q13 NDUFS8 (confirmed) NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q (OMIM ID: 602141) 11q13 NDUFV1, UQOR1 (provisional) NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD) (OMIM ID: 161015) 11q13 NUMA1 (confirmed) Nuclear mitotic apparatus protein-1 (OMIM ID: 164009) 11q13 OVOL1 (provisional) Ovo, drosophila, homolog-like, 1 (OMIM ID: 602313) 11q13 PGA3 (confirmed) Pepsinogen A3 (OMIM ID: 169710) 11q13 PGA4 (confirmed) Pepsinogen A4 (OMIM ID: 169720) 11q13 PGA5 (confirmed) Pepsinogen A5 (OMIM ID: 169730) 11q13 PLCB3 (confirmed) Phospholipase C, beta 3 (phosphatidylinositol-specific) (OMIM ID: 600230) 11q13 PPP1CA, PPP1A (confirmed) Protein phosphatase-1, catalytic subunit, alpha isoform (OMIM ID: 176875) 11q13 PPP2R5B (confirmed) Protein phosphatase-2, regulatory subunit B (B56), beta isoform (OMIM ID: 601644) 11q13 PYGM (confirmed) Phosphorylase, glycogen, muscle (OMIM ID: 232600) 11q13 RAB8IP, GCK (provisional) RAB8-interacting protein (germinal center kinase) (OMIM ID: 603166) 11q13 RBM4. LARK (provisional) RNA-binding motif protein-4 (lark, drosophila, homolog of) (OMIM ID: 602571) 11q13 REQ, UBID4 (confirmed) Requiem, apoptosis response zinc finger gene (OMIM ID: 601671) 11q13 ROM1, ROSP1 (provisional) Rod outer segment membrane protein-1 (OMIM ID: 180721) 11q13 RT6 (provisional) RT6 antigen (rat) homolog (OMIM ID: 180840) 11q13 SEA (confirmed) Oncogene SEA (S13 avian erythroblastosis) (OMIM ID: 165110) 11q13 SLC29A2, HNP36, DER12 (provisional) Solute carrier family 29 (nucleoside transporters), member 2 (OMIM ID: 602110) 11q13 SMTN (provisional) Somatotrophinoma (OMIM ID: 102200) 11q13 ST3 (confirmed) Suppression of tumorigenicity-3 (tumor-suppressor gene, HELA cell (OMIM ID: 191181) 11q13 TM7SF2, ANG1 (provisional) Transmembrane 7 superfamily, member 2 (OMIM ID: 603414) 11q13 UCP2 (provisional) Uncoupling protein-2 (OMIM ID: 601693) 11q13 UCP3 (provisional) Uncoupling protein-3 (OMIM ID: 602044) 11q13 UHG, U22HG (provisional) U22 host gene (OMIM ID: 603222) 11q13 UVRAG (provisional) UV radiation resistance-associated gene (OMIM ID: 602493) 11q13 VMD2 (confirmed) Vitelliform macular dystrophy (Best disease) (OMIM ID: 153700) 11q13 VEGFB, VRF (provisional) Vascular endothelial growth factor B (OMIM ID: 601398) 11q13 VRNI (provisional) Vitreoretinopathy, neovascular inflammatory (OMIM ID: 193235) 11q13 ZNF162, D11S636, ZFM1 (provisional) Zinc finger protein-162 (OMIM ID: 601516) 11q13-q14 ACTN3 (provisional) Actinin, alpha-3 (OMIM ID: 102574) 11q13-q14 PAK1 (provisional) p21/CDC42/RAC1-activated kinase 1 (OMIM ID: 602590) 11q13-q22 ESA4 (confirmed) Esterase-A4 (OMIM ID: 133220) 11q13-q23 EVR1, FEVR (confirmed) Exudative vitreoretinopathy-1 (autosomal dominant; Criswick-Schepens (OMIM ID: 133780) 11q13-qter GANAB (provisional) Neutral alpha-glucosidase AB (OMIM ID: 104160) 11q13-qter MSK39 (provisional) Antigen defined by monoclonal antibody 5.1H11 (OMIM ID: 107240) 11q13.2 FEOM2, CFEOM2 (provisional) Fibrosis of extraocular muscles, congenital, 2, autosomal recessive (OMIM ID: 602078) 11q13.1 CTSW (provisional) Cathepsin W (OMIM ID: 602364) 11q13.1 PGL2 (provisional) Paraganglioma or familial glomus tumors 2 (OMIM ID: 601650) 11q13.1 POLR2G (provisional) Polymerase (RNA) II (DNA directed) polypeptide G (OMIM ID: 602013) 11q13.1-q13.2 RAD9 (provisional) RAD9, S. pombe, homolog of (OMIM ID: 603761) 11q13.1-q13.3 FKBP2 (provisional) FK506-binding protein-2 (13kD) (OMIM ID: 186946) 11q13.1-q13.3 MLK3, PTK1, SPRK (provisional) Mixed lineage kinase 3 (OMIM ID: 600050) 11q13.2-q13.4 IGHMBP2, SMUBP2, CATF1 (provisional) Immunoglobulin mu binding protein 2 (OMIM ID: 600502) 11q13.3 BCL1 (confirmed) B-cell CLL/lymphoma-1 (OMIM ID: 151400) 11q13.3 FADD (confirmed) FAS-associating protein with death domain (OMIM ID: 602457) 11q13.3 PTPRCAP, LPAP (provisional) Protein tyrosine phosphatase, receptor type, c polypeptide-associated (OMIM ID: 601577) 11q13.3 SIPA1, SPA1 (provisional) Signal-induced proliferation-associated gene-1 (OMIM ID: 602180) 11q13.3-q13.4 ARIX, PHOX2A (confirmed) Aristaless homeo box, drosophila, homolog of (OMIM ID: 602753) 11q13.3-q13.4 ZNF126 (provisional) Zinc finger protein-126 (HZF-2) (OMIM ID: 194633) 11q13.3-q13.5 FOLR1 (confirmed) Folate receptor-1 (adult) (OMIM ID: 136430) 11q13.3-q13.5 FOLR2 (provisional) Folate receptor-2 (fetal) (OMIM ID: 136425) 11q13.3-q13.5 GAL, GALN, GLNN (provisional) Galanin (OMIM ID: 137035) 11q13.3-q13.5 RNU15A (provisional) RNA, U15a small nucleolar (OMIM ID: 600455) 11q13.3-q13.5 RPS3 (provisional) Ribosomal protein S3 (OMIM ID: 600454) 11q13.4 LRP5, LRP7, LR3 (provisional) Low density lipoprotein receptor-related protein-5 (OMIM ID: 603506) 11q13.4-q13.5 PC (confirmed) Pyruvate carboxylase (OMIM ID: 266150) 11q13.4-q14.1 KCNA4, KCNA8 (confirmed) Potassium voltage-gated channel, shaker-related subfamily, member 4 (OMIM ID: 176266) 11q13.4-q14.1 OMP (provisional) Olfactory marker protein (OMIM ID: 164340) 11q13.5 CBP2 (provisional) Collagen-binding protein 2 (colligen 2) (OMIM ID: 600943) 11q13.5 DNCH2, DHC2 (provisional) Dynein, cytoplasmic, heavy chain-2 (OMIM ID: 603297) 11q13.5 KRN1 (confirmed) Keratin, hair cuticle, ultrahigh-sulfur, 1 (OMIM ID: 148021) 11q13.5 MYO7A, USH1B, DFNB2, DFNA11 (confirmed) Myosin VIIA (OMIM ID: 276903) 11q13.5 P2RY2, P2Y2, P2U (confirmed) Purinergic receptor P2Y, G-protein coupled, 2 (OMIM ID: 600041) 11q13.5 P2RY6, P2Y6 (provisional) Pyrimidinergic receptor P2Y, G protein-coupled, 6 (OMIM ID: 602451) 11q13.5 THRSP (confirmed) Thyroid hormone responsive SPOT14, rat, homolog of (OMIM ID: 601926) 11q13.5 WNT11 (provisional) Wingless-type MMTV integration site family, member 11 (OMIM ID: 603699) 11q13.5-q14 GARP, D11S833E (provisional) Glycoprotein A repetitions predominant (OMIM ID: 137207) 11q13.5-q14.1 CLNS1A, CLNS1B (provisional) Chloride channel, nucleotide-sensitive, 1A (OMIM ID: 602158) 11q14 FOLH1, FOLH, PSM (inconsistent) Folate hydrolase 1 (prostate-specific membrane antigen) (OMIM ID: 600934) 11q14 CLTH (provisional) Clathrin assembly lymphoid-myeloid leukemia gene (OMIM ID: 603025) 11q14 PALS, PLS (confirmed) Papillon-Lefevre syndrome (OMIM ID: 245000) 11q14 PRCP, PCP (provisional) Prolylcarboxypeptidase (angiotensinase C) (OMIM ID: 176785) 11q14-q21 SCZD2 (tentative) Schizophrenia susceptibility locus, chromosome 11-related (OMIM ID: 603342) 11q14-q21 CLA1 (tentative) Cerebellar ataxia-1 (OMIM ID: 213200) 11q14-q21 TYR (confirmed) Tyrosinase (OMIM ID: 203100) 11q14.1-q14.3 CTSC, CPPI (provisional) Cathepsin C (OMIM ID: 602365) 11q21 DLG2 (provisional) Discs large, drosophila, homolog of, 2 (OMIM ID: 603583) 11q21 FUT4, FCT3A, CD15 (confirmed) Fucosyltransferase 4 (alpha (1,3) fucosyltransferase, (OMIM ID: 104230) 11q21 JRKL, HHMJG (provisional) Jerky, mouse, homolog-like (OMIM ID: 603211) 11q21 MRE11A, MRE11 (provisional) Meiotic recombination 11, S. cerevisiae, homolog A of (OMIM ID: 600814) 11q21-q22 GUCY1A2, GUC1A2 (provisional) Guanylate cyclase 1, soluble, alpha 2 (OMIM ID: 601244) 11q21-q22 MMP7 (confirmed) Matrix metalloproteinase 7 (matrilysin, uterine) (OMIM ID: 178990) 11q21-q22 MMP8, CLG1 (provisional) Matrix metalloproteinase 8 (neutrophil collagenase) (OMIM ID: 120355) 11q21-q22 MTNR1B (provisional) Melatonin receptor 1B (OMIM ID: 600804) 11q21-q22 TRPC6, TRP6 (provisional) Transient receptor potential channel-6 (OMIM ID: 603652) 11q22 FDX1, ADX (confirmed) Ferredoxin-1 (adrenodoxin) (OMIM ID: 103260) 11q22 MTMR2 (confirmed) Myotubularin-related protein 2 (OMIM ID: 603557) 11q22 PGR (confirmed) Progesterone receptor (OMIM ID: 264080) 11q22 SRP46 (provisional) Splicing factor, arginine/serine-rich, 46-kD (OMIM ID: 603269) 11q22-q23 API2, HAIP1 (provisional) Apoptosis inhibitor-2 (OMIM ID: 601721) 11q22-q23 API1, HIAP2 (provisional) Apoptosis inhibitor-1 (OMIM ID: 601712) 11q22-q23 CHEK1, CHK1 (provisional) Checkpoint, S. pombe, homolog of, 1 (OMIM ID: 603078) 11q22-q23 CUL5, VACM1 (provisional) Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1) (OMIM ID: 601741) 11q22-q23 DDX10 (provisional) DEAD/H box-10 (RNA helicase) (OMIM ID: 601235) 11q22-q23 GRIA4, GLUR4 (provisional) Glutamate receptor, ionotropic, AMPA 4 (OMIM ID: 138246) 11q22-q23 HSPB2 (provisional) Heat-shock 27kD protein-2 (OMIM ID: 602179) 11q22-q23 MMP1, CLG (confirmed) Matrix metalloproteinase 1 (interstitial collagenase) (OMIM ID: 120353) 11q22-q23 SLN (provisional) Sarcolipin (OMIM ID: 602203) 11q22-q24 PPP2R1B (provisional) Protein phosphatase 2, structural/regulatory subunit A, beta (OMIM ID: 603113) 11q22-q24 TECTA, DFNA8, DFNA12 (provisional) Tectorin, alpha (OMIM ID: 602574) 11q22-qter ANC (tentative) Anal canal carcinoma (OMIM ID: 105580) 11q22-qter SCN2B (provisional) Sodium channel, voltage-gated, type II, beta polypeptide (OMIM ID: 601327) 11q22.2-q22.3 CASP1, IL1BC (confirmed) Caspase 1, apoptosis-related cysteine protease (interleukin-1, beta (OMIM ID: 147678) 11q22.2-q22.3 CASP4 (provisional) Caspase 4, apoptosis-related cysteine protease (OMIM ID: 602664) 11q22.2-q22.3 CASP5 (provisional) Caspase 5, apoptosis-related cysteine protease (OMIM ID: 602665) 11q22.2-q22.3 IL18, IGIF (provisional) Interleukin-18 (OMIM ID: 600953) 11q22.2-q22.3 MMP12 (provisional) Matrix metalloproteinase 12 (macrophage elastase) (OMIM ID: 601046) 11q22.3 ATM, ATA, AT1 (confirmed) Ataxia-telangiectasia mutated (includes complementation groups A, C, (OMIM ID: 208900) 11q22.3 GRIK4 (provisional) Glutamate receptor, ionotropic, kainate 4 (OMIM ID: 600282) 11q22.3 MMP13, CLG3 (provisional) Matrix metalloproteinase 13 (collagenase 3) (OMIM ID: 600108) 11q22.3 NPAT, E14 (provisional) Nuclear protein, ataxia-telangiectasia locus (OMIM ID: 601448) 11q22.3-q23 MMP10, STMY2 (provisional) Matrix metalloproteinase 10 (stromelysin 2) (OMIM ID: 185260) 11q22.3-q23.1 ACAT1 (confirmed) Acetyl-Coenzyme A acetyltransferase-1 (acetoacetyl Coenzyme A (OMIM ID: 203750) 11q22.3-q23.1 CRYAB, CRYA2 (confirmed) Crystallin, alpha B (OMIM ID: 123590) 11q22.3-q23.3 PTS (provisional) 6-pyruvoyltetrahydropterin synthase (OMIM ID: 261640) 11q23 APOLP1@ (confirmed) APOLIPOPROTEIN CLUSTER I (OMIM ID: ) 11q23 APOA1 (confirmed) Apolipoprotein A-I (OMIM ID: 107680) 11q23 APOC3 (confirmed) Apolipoprotein C-III (OMIM ID: 107720) 11q23 APOA4 (confirmed) Apolipoprotein A-IV (OMIM ID: 107690) 11q23 ATP1G1 (provisional) Sodium-potassium-ATPase, gamma polypeptide (OMIM ID: 601814) 11q23 BRCA3 (provisional) Breast cancer, 11;22 translocation associated (OMIM ID: 600048) 11q23 CD3D, T3D (confirmed) CD3D antigen, delta polypeptide (TiT3 complex) (OMIM ID: 186790) 11q23 CD3E (provisional) CD3E antigen, epsilon polypeptide (TiT3 complex) (OMIM ID: 186830) 11q23 CD3G (confirmed) CD3G antigen, gamma polypeptide (TiT3 complex) (OMIM ID: 186740) 11q23 CMT4B (provisional) Charcot-Marie-Tooth neuropathy 4B (OMIM ID: 601382) 11q23 DRD2 (confirmed) Dopamine receptor D2 (OMIM ID: 126450) 11q23 ED4 (provisional) Ectodermal dysplasia, type 4 (ectodermal dysplasia, Margarita type) (OMIM ID: 225060) 11q23 G6PT1 (confirmed) Glucose-6-phosphate transporter-1 (OMIM ID: 602671) 11q23 INPPL1 (provisional) Inositol polyphosphate phosphatase-like 1 (OMIM ID: 600829) 11q23 JBS (confirmed) Jacobsen syndrome (OMIM ID: 147791) 11q23 LOH11CR2A (provisional) Loss of heterozygosity, 11, chromosomal region 2, gene A (OMIM ID: 602929) 11q23 MLL, HRX, HTRX1 (confirmed) Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) (OMIM ID: 159555) 11q23 MMP3, STMY1 (confirmed) Matrix metalloproteinase 3 (stromelysin 1, progelatinase) (OMIM ID: 185250) 11q23 PAFAH1B2 (confirmed) Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit (OMIM ID: 602508) 11q23 PGL1, PGL, CBT1 (confirmed) Paraganglioma or familial glomus tumors 2 (OMIM ID: 168000) 11q23 RDX (provisional) Radixin (OMIM ID: 179410) 11q23 SDHD (provisional) Succinate dehydrogenase complex, subunit D, integral membrane protein (OMIM ID: 602690) 11q23 TCPT (tentative) Thrombocytopenia, Paris-Trousseau type (deletion 11q23 syndrome) (OMIM ID: 188025) 11q23-q24 PVRL1, PVRR1, PRR1 (provisional) Poliovirus receptor-like 1 (OMIM ID: 600644) 11q23-q24 SRPR (confirmed) Signal recognition particle receptor (OMIM ID: 182180) 11q23-q25 APLP2 (provisional) Amyloid beta (A4) precursor-like protein-2 (OMIM ID: 104776) 11q23.1 EBVM1 (provisional) Epstein-Barr virus modification site-1 (OMIM ID: 132860) 11q23.1 NCAM1 (confirmed) Neural cell adhesion molecule 1 (OMIM ID: 116930) 11q23.1 NNMT (provisional) Nicotinamide N-methyltransferase (OMIM ID: 600008) 11q23.1 PLZF (provisional) Promyelocytic leukemia zinc finger (OMIM ID: 176797) 11q23.1 PORC (provisional) Porphyria, acute, Chester type (OMIM ID: 176010) 11q23.1 POU2AF1, OBF1 (provisional) POU domain, class 2, associating factor 1 (OMIM ID: 601206) 11q23.1-q23.2 HTR3 (provisional) 5-hydroxytryptamine (serotonin) receptor-3 (OMIM ID: 182139) 11q23.1-q23.2 ZNF123 (provisional) Zinc finger protein-123 (HZF-1) (OMIM ID: 194630) 11q23.1-q23.2 ZNF125 (provisional) Zinc finger protein-125 (HZF-3) (OMIM ID: 194632) 11q23.2 TAGLN, SMCC, SM22 (provisional) Transgelin (OMIM ID: 600818) 11q23.2-q23.3 H2AX (provisional) H2AX histone (OMIM ID: 601772) 1q23.2-q23.3 SLC19A2, THTR1 (confirmed) Solute carrier family 19 (folate transporter), member 2 (OMIM ID: 603941) 11q23.2-q24.2 SORL1 (provisional) Sortilin-related receptor, L(DLR class) A repeats-containing (OMIM ID: 602005) 11q23.3 ARCN1 (provisional) Archain 1 (OMIM ID: 600820) 11q23.3 CBL, CBL2 (confirmed) Cas-Br-M ecotropic retroviral transforming sequence (Oncogene CBL2) (OMIM ID: 165360) 11q23.3 DDX6, HLR2 (provisional) DEAD/H box-6 (RNA helicase, 54kD) (OMIM ID: 600326) 11q23.3 ETS1 (confirmed) Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1 (OMIM ID: 164720) 11q23.3 HMBS, PBGD, UPS (confirmed) Hydroxymethylbilane synthase (OMIM ID: 176000) 11q23.3 IL10R (confirmed) Interleukin-10 receptor (OMIM ID: 146933) 11q23.3 ITM1 (confirmed) Integral transmembrane protein 1 (OMIM ID: 601134) 11q23.3 RPS25 (provisional) Ribosomal protein S25 (OMIM ID: 180465) 11q23.3 SC5DL, ERG3 (provisional) Sterol C5-desaturase-like (OMIM ID: 602286) 11q23.3 THY1 (confirmed) Thy-1 T-cell antigen (OMIM ID: 188230) 11q23.3 ZNF202 (provisional) Zinc finger protein-202 (OMIM ID: 603430) 11q23.3-q25 HSPA8, HSP73 (provisional) Heat-shock 70kD protein-8 (HSP73) (OMIM ID: 600816) 11q24 FLI1 (confirmed) Friend leukemia virus integration 1 (OMIM ID: 193067) 11q24 KCNJ1, ROMK1 (confirmed) Potassium inwardly-rectifying channel, subfamily J, member 1 (OMIM ID: 600359) 11q24 KCNJ5, GIRK4, KATP1 (provisional) Potassium inwardly-rectifying channel, subfamily J, member 5 (OMIM ID: 600734) 11q24 NRGN (provisional) Neurogranin (OMIM ID: 602350) 11q24-q25 NFRKB (provisional) Nuclear factor related to kappa B-binding protein (OMIM ID: 164013) 11q24-q25 TMC (provisional) Transmembrane conserved gene (OMIM ID: 602156) 11q25 HJCD (provisional) Histiocytosis with joint contractures and sensorineural deafness (OMIM ID: 602782) C Chr.11 CD6, TP120 (provisional) CD6 antigen (OMIM ID: 186720) Chr.11 CD57, LEU7 (provisional) CD57 antigen (LEU7) (OMIM ID: 151290) Chr.11 CRY2 (provisional) Cryptochrome 2 (OMIM ID: 603732) Chr.11 ERVT2, TRV2 (provisional) Endogenous retroviral sequence, truncated 2 (band T2, 21.0kb) (OMIM ID: 190950) Chr.11 FRV1 (provisional) Full-length endogenous retroviral sequence-1 (OMIM ID: 136840) Chr.11 OPCML (provisional) Opioid-binding protein/cell adhesion molecule-like (OMIM ID: 600632) Chr.11 PTP4A2, HH72 (provisional) Protein tyrosine phosphatase IVA2 (OMIM ID: 601585) Chr.11 SIAT4C, SIAT4, CGS23, NANTA3 (provisional) Sialyltransferase-4C (alpha-3-N-acetylneuraminyltransferase) (OMIM ID: 104240) Chr.11 ZNF75C (provisional) Zinc finger protein-75C (OMIM ID: 601474) 1 12pter-p12 CD4 (confirmed) CD4 antigen (p55) (OMIM ID: 186940) 12p13.32 LAG3 (provisional) Lymphocyte activation gene-3 (OMIM ID: 153337) 12p13.31 DRPLA (confirmed) Dentatorubro-pallidoluysian atrophy (OMIM ID: 125370) 12p13.31-p13.1 GAPD (confirmed) Glyceraldehyde-3-phosphate dehydrogenase (OMIM ID: 138400) 12p13.3 ADHR, HPDR2 (provisional) Hypophosphatemia vitamin D-resistant rickets-2 (autosomal dominant) (OMIM ID: 193100) 12p13.3 CACNA1C, CACNL1A1, CCHL1A1 (confirmed) Calcium channel, voltage-dependent, L type, alpha 1C subunit (OMIM ID: 114205) 12p13.3 PXR1, PEX5, PTS1R (confirmed) Peroxisome receptor 1 (OMIM ID: 600414) 12p13.3 SLC2A3, GLUT3 (provisional) Solute carrier family 2 (facilitated glucose transporter), member 3 (OMIM ID: 138170) 12p13.3 VWF, F8VWF (confirmed) Coagulation factor VIII VWF (von Willebrand factor) (OMIM ID: 193400) 12p13.3-p13.2 TEAD4, TCF13L1, RTEF1 (provisional) TEA domain family, member 4 (OMIM ID: 601714) 12p13.3-p12.3 A2M (confirmed) Alpha-2-macroglobulin (OMIM ID: 103950) 12p13.3-p11.2 ACLS (tentative) Acrocallosal syndrome (OMIM ID: 200990) 12p13.3-p11.2 LRP6 (provisional) Low density lipoprotein receptor-related protein 6 (OMIM ID: 603507) 12p13.2 PR@ (provisional) SALIVARY PROLINE-RICH PROTEIN COMPLEX (OMIM ID: ) 12p13.2 PRB1 (provisional) Proline-rich protein BstNI, subfamily-1 (OMIM ID: 180989) 12p13.2 PRB2 (confirmed) Proline-rich protein BstNI, subfamily-2 (parotid size variant) (OMIM ID: 168810) 12p13.2 PRB3 (confirmed) Proline-rich protein BstNI, subfamily-3 (parotid salivary (OMIM ID: 168840) 12p13.2 PRB4 (confirmed) Proline-rich protein BstNI, subfamily-4 (OMIM ID: 180990) 12p13.2 PRH1 (confirmed) Proline-rich protein HaeIII, subfamily-1 (OMIM ID: 168730) 12p13.2 PRH2 (confirmed) Proline-rich protein HaeIII, subfamily-2 (OMIM ID: 168790) 12p13.2 PCS (provisional) Parotid proline-rich salivary protein Pc (OMIM ID: 168710) 12p13.2 TNFRSF1A, TNFR1, TNFAR (confirmed) Tumor necrosis factor receptor superfamily, member 1A (OMIM ID: 191190) 12p13.2-p13.1 CLAPS3 (provisional) Clathrin-associated/assembly/adaptor protein, small 3 (22kD) (OMIM ID: 601507) 12p13.2-p13.1 PIR51 (provisional) Rad51-interacting protein (OMIM ID: 603070) 12p13.2-p12.3 GPR19 (provisional) G protein-coupled receptor-19 (OMIM ID: 602927) 12p13.2-p12.3 KLRC1, NKG2, NKG2A (confirmed) Killer cell lectin-like receptor, subfamily C, member 1 (OMIM ID: 161555) 12p13.2-p12.3 KLRC2, NKG2C (provisional) Killer cell lectin-like receptor, subfamily C, member 2 (OMIM ID: 602891) 12p13.2-p12.3 KLRC3, NKG2E (provisional) Killer cell lectin-like receptor, subfamily C, member 3 (OMIM ID: 602892) 12p13.2-p12.3 KLRC4, NKG2F, D12S2489E (provisional) Killer cell lectin-like receptor, subfamily C, member 4 (OMIM ID: 602893) 12p13.2-p12.3 KLRD1, CD94 (provisional) Killer cell lectin-like receptor, subfamily D, member 1 (OMIM ID: 602894) 12p13.2-p12.1 DO (provisional) Dombrock blood group (OMIM ID: 110600) 12p13.2-q24.1 IBD2 (confirmed) Inflammatory bowel disease-2 (OMIM ID: 601458) 12p13.1 APOBEC1, BEDP (confirmed) Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (OMIM ID: 600130) 12p13.1 CSDA, DBPA (provisional) Cold-shock domain protein A (OMIM ID: 603437) 12p13.1-p12.3 MAGP2 (provisional) Microfibril-associated glycoprotein-2 (OMIM ID: 601103) 12p13.1-p12.3 MGP (confirmed) Matrix Gla protein (OMIM ID: 154870) 12p13 C1R (confirmed) Complement component-1, r subcomponent (OMIM ID: 216950) 12p13 C1S (confirmed) Complement component-1, s subcomponent (OMIM ID: 120580) 12p13 CCND2 (confirmed) Cyclin D2 (OMIM ID: 123833) 12p13 CD9, MIC3 (confirmed) CD9 antigen (p24) (OMIM ID: 143030) 12p13 CDKN1B, KIP1, CDKN4 (confirmed) Cyclin-dependent kinase inhibitor 1B (p27, Kip1) (OMIM ID: 600778) 12p13 CHD4 (provisional) Chromodomain helicase DNA-binding protein-4 (OMIM ID: 603277) 12p13 CREBL2 (provisional) Cyclic AMP response element-binding protein-like 2 (OMIM ID: 603476) 12p13 DDX12, CHLR2 (provisional) DEAD/H box-12 (OMIM ID: 601151) 12p13 ENO2 (confirmed) Enolase-2, gamma, neuronal (OMIM ID: 131360) 12p13 ETV6, TEL (confirmed) ETS variant gene-6 (TEL oncogene) (OMIM ID: 600618) 12p13 FGF6 (confirmed) Fibroblast growth factor-6 (OMIM ID: 134921) 12p13 FKHL16, HFH11 (confirmed) Forkhead, drosophila, homolog-like 16 (OMIM ID: 602341) 12p13 FPF (confirmed) Familial periodic fever (Hibernian fever) (OMIM ID: 142680) 12p13 GNB3 (confirmed) Guanine nucleotide-binding protein, beta polypeptide-3 (OMIM ID: 139130) 12p13 KCNA1, AEMK, EA1 (confirmed) Potassium voltage-gated channel, shaker-related subfamily, member 1 (OMIM ID: 176260) 12p13 KCNA5 (confirmed) Potassium voltage-gated channel, shaker-related subfamily, member 5 (OMIM ID: 176267) 12p13 KCNA6 (tentative) Potassium voltage-gated channel, shaker-related subfamily, member 6 (OMIM ID: 176257) 12p13 LMO3, RBTNL2, RHOM3 (provisional) LIM domain only 3 (rhombotin-like 2) (OMIM ID: 180386) 12p13 LTBR, TNFCR (tentative) Lymphotoxin-beta receptor (tumor necrosis factor C receptor) (OMIM ID: 600979) 12p13 M6PR (confirmed) Mannose-6-phosphate receptor, cation-dependent (OMIM ID: 154540) 12p13 MLF2 (provisional) Myeloid leukemia factor-2 (OMIM ID: 601401) 12p13 MPE (tentative) Malignant proliferation, eosinophil (OMIM ID: 131440) 12p13 NOL1 (provisional) Nucleolar protein 1 (120kD) (OMIM ID: 164031) 12p13 NTF3 (confirmed) Neurotrophin-3 (OMIM ID: 162660) 12p13 PDE6H (provisional) Phosphodiesterase 6H, cGMP-specific, cone, gamma (OMIM ID: 601190) 12p13 PTPN6 (provisional) Protein tyrosine phosphatase, non-receptor type 6 (OMIM ID: 176883) 12p13 SCNN1A (confirmed) Sodium channel, nonvoltage-gated 1, alpha (OMIM ID: 600228) 12p13 SLC6A12 (provisional) Solute carrier family 6 (neurotransmitter transporter, betaine/GABA), (OMIM ID: 603080) 12p13 TNFRSF7, CD27, S152 (provisional) Tumor necrosis factor receptor superfamily, member 7 (CD27 antigen) (OMIM ID: 186711) 12p13 TPI1 (confirmed) Triosephosphate isomerase-1 (OMIM ID: 190450) 12p13 USP5, ISOT (provisional) Ubiquitin-specific protease-5 (ubiquitin isopeptidase T) (OMIM ID: 601447) 12p13-p12.2 PZP (provisional) Pregnancy zone protein (OMIM ID: 176420) 12p13-p12 CD69 (confirmed) CD69 antigen (p60, early T-cell activation antigen) (OMIM ID: 107273) 12p13-p12 CLECSF2, AICL (provisional) C-type lectin superfamily, member 1 (OMIM ID: 603242) 12p13-p12 KLRB1, NKRP1A (provisional) Killer cell lectin-like receptor, subfamily B, member 1 (OMIM ID: 602890) 12p13-p12 OLR1, LOX1 (provisional) Low density lipoprotein, oxidized, receptor 1 (OMIM ID: 602601) 12p13-p12 PTPRO, GLEPP1 (provisional) Protein tyrosine phosphatase, receptor type, O (OMIM ID: 600579) 12p13-q12.2 RAD52 (provisional) RAD52, yeast, human homolog of (OMIM ID: 600392) 12p13-qter ATP5B, ATPSB (confirmed) ATP synthase, H+ transporting, mitochondrial F1 complex, beta (OMIM ID: 102910) 12p12.3 ARHGDIB, GDID4, D4 (provisional) Rho GDP dissociation inhibitor (GDI) beta (OMIM ID: 602843) 12p12.3-p12.1 IAPP (confirmed) Islet amyloid polypeptide (diabetes-associated peptide; amylin) (OMIM ID: 147940) 12p12.2 GYS2 (confirmed) Glycogen synthase-2 (liver) (OMIM ID: 138571) 12p12.2-p12.1 LDHB (confirmed) Lactate dehydrogenase B (OMIM ID: 150100) 12p12.2-p11.2 HTNB (confirmed) Hypertension with brachydactyly (OMIM ID: 112410) 12p12.1 KRAS2, RASK2 (confirmed) Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog (OMIM ID: 190070) 12p12.1-p11.2 PTHLH (provisional) Parathyroid hormone-like hormone (OMIM ID: 168470) 12p12.1-p11.2 SIAT8 (confirmed) Sialyltransferase-8 (alpha-N-acetylneuraminate: (OMIM ID: 601123) 12p12 BCAT1, BCT1 (confirmed) Branched chain aminotransferase-1, cytosolic (OMIM ID: 113520) 12p12 EMP1, TMP (confirmed) Epithelial membrane protein-1 (OMIM ID: 602333) 12p12 GRIN2B, NMDAR2B (provisional) Glutamate receptor, ionotropic, N-methyl D-aspartate 2B (OMIM ID: 138252) 12p12 GUCY2C, GUC2C (provisional) Guanylate cyclase 2C (heat stable enterotoxin receptor) (OMIM ID: 601330) 12p12 SKP1B (provisional) S-phase kinase-associated protein 1B (p19B) (OMIM ID: 601435) 12p12 SLC21A3, OATP (confirmed) Solute carrier family 21 (organic anion transporter), member 3 (OMIM ID: 602883) 12p12-p11 RECQL (provisional) RecQ protein-like (DNA helicase Q1-like) (OMIM ID: 600537) 12p11.23 KCNJ8 (provisional) Potassium inwardly-rectifying channel, subfamily J, member 8 (OMIM ID: 600935) 12p11.23-q13.12 AD5 (provisional) Alzheimer disease, familial, type 5 (OMIM ID: 602096) 12p11.2 KRAG (provisional) Kirsten-ras associated gene (OMIM ID: 601599) 12p11.2-p11.1 BICD1 (provisional) Bicaudal-D, Drosophila, homolog of, 1 (OMIM ID: 602204) 12p11.2-q12 FEOM, CFEOM1, FEOM1 (provisional) Fibrosis of extraocular muscles, congenital, 1, autosomal dominant (OMIM ID: 135700) 12p11 DDX11, CHLR1, KRG2 (provisional) DEAD/H box-11 (CHL1-related helicase gene-1) (OMIM ID: 601150) 12p11 ITPR2 (provisional) Inositol 1,4,5-triphosphate receptor, type 2 (OMIM ID: 600144) 12p11 RBBP2 (provisional) Retinoblastoma-binding protein-2 (OMIM ID: 180202) 12p11-qter CS (confirmed) Citrate synthase, mitochondrial (OMIM ID: 118950) 12p KAR (tentative) Aromatic alpha-keto acid reductase (OMIM ID: 107920) 12p MIC17, BB1 (provisional) Antigen identified by monoclonal antibody BB1 (OMIM ID: 185595) 12p NDUFA10 (provisional) NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 10 (OMIM ID: 603835) 12p VAMP1, SYB1 (provisional) Vesicle-associated membrane protein-1 (synaptobrevin-1) (OMIM ID: 185880) 12cen-q21 SYT1 (confirmed) Synaptotagmin-1 (OMIM ID: 185605) 12q FXR, RIP14 (tentative) Farnesoid X-activated receptor (OMIM ID: 603826) 12q RPL6 (provisional) Ribosomal protein L6 (OMIM ID: 603703) 12q RPS26 (provisional) Ribosomal protein S26 (OMIM ID: 603701) 12q11-q12 ALDL1 (provisional) Adrenoleukodystrophy-like 1 (OMIM ID: 601081) 12q11-q12 CNTN1 (provisional) Contactin 1 (OMIM ID: 600016) 12q11-q13 ITGA5, FNRA, VLA5A (confirmed) Integrin, alpha-5 (fibronectin receptor, alpha subunit; very late (OMIM ID: 135620) 12q11-q13 KRT2A, KRT2E (provisional) Keratin-2A (OMIM ID: 600194) 12q11-q13 PPKB (provisional) Palmoplantar keratoderma, Bothnia type (OMIM ID: 600231) 12q11-q14 ACVRL1, ACVRLK1, ALK1, HHT2 (confirmed) Activin A receptor, type II-like kinase 1 (OMIM ID: 601284) 12q12 ACCN2 (provisional) Cation channel, amiloride-sensitive, neuronal, 2 (OMIM ID: 602866) 12q12-q13 ADCY6 (confirmed) Adenylate cyclase-6 (OMIM ID: 600294) 12q12-q13 CD63, MLA1 (provisional) CD63 antigen (melanoma 1 antigen) (OMIM ID: 155740) 12q12-q13 GPD1 (confirmed) Glycerol-3-phosphate dehydrogenase, soluble (OMIM ID: 138420) 12q12-q13 PRPH (provisional) Peripherin (OMIM ID: 170710) 12q12-q13 TEGT (provisional) Testis enhanced gene transcript (OMIM ID: 600748) 12q12-q13 TIMELESS, TIM, TIM1 (provisional) Timeless, drosophila, homolog of (OMIM ID: 603887) 12q12-q13 WNT1, INT1 (confirmed) Wingless-type MMTV integration site family, member 1 (oncogene INT1) (OMIM ID: 164820) 12q12-q14 KRT7 (provisional) Keratin-7 (OMIM ID: 148059) 12q12-q14 MLL2, ALR (provisional) Myeloid/lymphoid or mixed-lineage leukemia 2 (OMIM ID: 602113) 12q12-q14 VDR (provisional) Vitamin D (1,25-dihydroxyvitamin D3) receptor (OMIM ID: 601769) 12q13 AAA (provisional) Achalasia-addisonianism-alacrimia syndrome (Allgrove syndrome) (OMIM ID: 231550) 12q13 ACVR1B, ACVRLK4, ALK4 (confirmed) Activin A receptor, type IB (OMIM ID: 601300) 12q13 AMHR2, AMHR (provisional) Anti-Mullerian hormone receptor, type II (OMIM ID: 600956) 12q13 AQP2 (confirmed) Aquaporin-2 (collecting duct) (OMIM ID: 107777) 12q13 AQP6, AQP2L (confirmed) Aquaporin-6, kidney specific (OMIM ID: 601383) 12q13 AQP5 (provisional) Aquaporin-5 (OMIM ID: 600442) 12q13 ARF3 (confirmed) ADP-ribosylation factor-3 (OMIM ID: 103190) 12q13 ATF1, TREB36 (provisional) Activating transcription factor 1 (OMIM ID: 123803) 12q13 CACNB3 (provisional) Calcium channel, voltage-dependent, beta 3 subunit (OMIM ID: 601958) 12q13 CDK2 (provisional) Cyclin-dependent kinase 2 (OMIM ID: 116953) 12q13 ELA1 (confirmed) Elastase-1 (OMIM ID: 130120) 12q13 ERBB3 (provisional) Transformation gene ERBB-3 (OMIM ID: 190151) 12q13 KRTHB1, HB1 (provisional) Keratin, hair, basic, 1 (OMIM ID: 602153) 12q13 KRTHB6, HB6 (confirmed) Keratin, hair, basic, 6 (OMIM ID: 601928) 12q13 HMR, NP10 (provisional) Nuclear protein N10, growth factor inducible (OMIM ID: 139139) 12q13 HOXC@, HOX3@ (confirmed) HOMEO BOX C CLUSTER (OMIM ID: ) 12q13 HOXC4, HOX3E (confirmed) Homeo box-C4 (OMIM ID: 142974) 12q13 HOXC5, HOX3D (confirmed) Homeo box-C5 (OMIM ID: 142973) 12q13 HOXC6, HOX3C (confirmed) Homeo box-C6 (OMIM ID: 142972) 12q13 HOXC8, HOX3A (confirmed) Homeo box-C8 (OMIM ID: 142970) 12q13 HOXC9, HOX3B (confirmed) Homeo box-C9 (OMIM ID: 142971) 12q13 HOXC12, HOX3F (confirmed) Homeo box-C12 (OMIM ID: 142975) 12q13 HOXC13, HOX3G (confirmed) Homeo box-C13 (OMIM ID: 142976) 12q13 HPV18I2 (confirmed) Human papillomavirus type 18 integration site-2 (OMIM ID: 167960) 12q13 ITGA7 (provisional) Integrin, alpha-7 (OMIM ID: 600536) 12q13 KRT1 (confirmed) Keratin-1 (OMIM ID: 139350) 12q13 KRT3 (confirmed) Keratin-3 (OMIM ID: 148043) 12q13 KRT5 (provisional) Keratin-5 (OMIM ID: 148040) 12q13 KRT6A (provisional) Keratin-6A (OMIM ID: 148041) 12q13 KRT6B (provisional) Keratin-6B (OMIM ID: 148042) 12q13 KRT8 (provisional) Keratin-8 (OMIM ID: 148060) 12q13 KRT18 (confirmed) Keratin-18 (OMIM ID: 148070) 12q13 LALBA (provisional) Lactalbumin, alpha (OMIM ID: 149750) 12q13 MIP, AQP0 (confirmed) Major intrinsic protein of lens fiber (OMIM ID: 154050) 12q13 NFE2 (confirmed) Nuclear factor, erythroid-derived 2, 45kD (OMIM ID: 601490) 12q13 NRAMP2 (provisional) Natural resistance-associated macrophage protein 2 (OMIM ID: 600523) 12q13 PA2G4 (provisional) Proliferation-associated 2G4, 38kD (OMIM ID: 602145) 12q13 PDE1B1, PDES1B, PDE1B (confirmed) Phosphodiesterase-1B (OMIM ID: 171891) 12q13 PRIM1 (provisional) Primase, polypeptide-1 (49kD) (OMIM ID: 176635) 12q13 RAB13 (provisional) RAB13, member RAS oncogene family (OMIM ID: 602672) 12q13 RARG (confirmed) Retinoic acid receptor, gamma polypeptide (OMIM ID: 180190) 12q13 SCN8A (provisional) Sodium channel, voltage gated, type VIII, alpha polypeptide (OMIM ID: 600702) 12q13 SHMT2, GLYA (confirmed) Serine hydroxymethyltransferase (OMIM ID: 138450) 12q13 STAT6 (confirmed) Signal transducer and activator of transcription-6, interleukin-4 (OMIM ID: 601512) 12q13 TFCP2 (confirmed) Transcription factor CP2, alpha globin (OMIM ID: 189889) 12q13 WNT10B (provisional) Wingless-type MMTV integration site family, member 10B (OMIM ID: 601906) 12q13 KRT4, CYK4 (confirmed) Keratin-4 (OMIM ID: 123940) 12q13 ZPK (provisional) Zipper (leucine) protein kinase (OMIM ID: 600447) 12q13-q14 GCN5L1 (provisional) GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1 (OMIM ID: 601444) 12q13-q14 PABPL2, PAB1 (provisional) Poly(A)-binding protein-like 2 (OMIM ID: 173865) 12q13-q14 RDH5 (provisional) Retinol dehydrogenase-5 (OMIM ID: 601617) 12q13-q14 SAS (provisional) Sarcoma amplified sequence (OMIM ID: 181035) 12q13-q14 SILV, D12S53E, PMEL17 (provisional) Silver, mouse, homolog of (OMIM ID: 155550) 12q13-q14 SMARCC2, BAF170 (provisional) SW1/SNF related, matrix associated, actin dependent regulator of (OMIM ID: 601734) 12q13-q14 SMARCD1, BAF60A (provisional) SW1/SNF related, matrix associated, actin dependent regulator of (OMIM ID: 601735) 12q13-q15 GAS41 (provisional) Glioma-amplified sequence-41 (OMIM ID: 602116) 12q13-q15 MYO1A (provisional) Myosin IA (OMIM ID: 601478) 12q13-q21 ENUR2 (provisional) Enuresis, nocturnal, 2 (OMIM ID: 600808) 12q13-q21 TAC3, NKNB (provisional) Tachykinin 3 (neuromedin K, neurokinin B) (OMIM ID: 162330) 12q13-qter ZNF10, KOX1 (confirmed) Zinc finger protein-10 (KOX 1) (OMIM ID: 194538) 12q13.1 HEM1 (provisional) Hematopoietic protein-1 (OMIM ID: 141180) 12q13.1 HNRPA1 (provisional) Heterogeneous nuclear ribonucleoprotein A1 (OMIM ID: 164017) 12q13.1 INHBC (provisional) Inhibin, beta C (OMIM ID: 601233) 12q13.1 PRKAG1 (provisional) Protein kinase, AMP-activated, noncatalytic, gemma-1 (OMIM ID: 602742) 12q13.1 SP1 (confirmed) Sp1 transcription factor (OMIM ID: 189906) 12q13.1-q13.2 DDIT3, GADD153, CHOP10 (confirmed) DNA-damage-inducible transcript-3 (OMIM ID: 126337) 12q13.1-q13.3 LRP1, A2MR (confirmed) Low density lipoprotein-related protein-1 (alpha-2-macroglobulin (OMIM ID: 107770) 12q13.11-q13.12 NELL2 (provisional) Nel-like 2 (OMIM ID: 602320) 12q13.11-q13.2 COL2A1 (confirmed) Collagen II, alpha-1 polypeptide (OMIM ID: 120140) 12q13.12-q13.13 PCBP2 (provisional) Poly(rC)-binding protein-2 (OMIM ID: 601210) 12q13.13 ITGB7 (confirmed) Integrin, beta-7 (OMIM ID: 147559) 12q13.2-q13.3 ART4 (provisional) ADP-ribosyltransferase-4 (OMIM ID: 603087) 12q13.2-q13.3 GLI (confirmed) Glioma-associated oncogene homolog (zinc finger protein) (OMIM ID: 165220) 12q13.3 DGKA, DAGK1 (confirmed) Diacylglycerol kinase, alpha (80kD) (OMIM ID: 125855) 12q13.3 GALGT, GALNACT (provisional) UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)- (OMIM ID: 601873) 12q13.3 PFKM (provisional) Phosphofructokinase, muscle type (OMIM ID: 232800) 12q13.3-q14.1 NAB2 (provisional) NGFIA-binding protein-2 (OMIM ID: 602381) 12q13.3-q15 SPPM, SPMD (provisional) Scapuloperoneal syndrome, myopathic type (OMIM ID: 181430) 12q14 CDK4, CMM3 (confirmed) Cyclin-dependent kinase 4 (OMIM ID: 123829) 12q14 CYP27B1, PDDR, VDD1 (confirmed) Cytochrome P450, subfamily XXVIIB, polypeptide 1 (OMIM ID: 264700) 12q14 GNS, G6S (provisional) N-acetylglucosamine-6-sulfatase (OMIM ID: 252940) 12q14 IFNG (confirmed) Interferon, gamma (OMIM ID: 147570) 12q14 MMP19 (provisional) Matrix metalloproteinase-19 (OMIM ID: 601807) 12q14 RAP1B (provisional) RAS-related protein RAP1B (OMIM ID: 179530) 12q14-q15 AVPR1A (provisional) Arginine vasopressin receptor-1A (OMIM ID: 600821) 12q14.3-q15 MDM2 (confirmed) Mouse double minute 2, human homolog of; p53-binding protein (OMIM ID: 164785) 12q15 CPM (provisional) Carboxypeptidase M (OMIM ID: 114860) 12q15 HMGIC, BABL, LIPO (confirmed) High-mobility group protein HMGI-C (OMIM ID: 600698) 12q15 PSMC6 (provisional) Proteasome 26S subunit, ATPase, 6 (OMIM ID: 602708) 12q15 PTPGMC1 (provisional) Protein-tyrosine phosphatase, receptor-type, expressed by glomerular (OMIM ID: 603317) 12q15-q21 PTPRB (provisional) Protein tyrosine phosphatase, receptor type, beta polypeptide (OMIM ID: 176882) 12q21 CNA2 (confirmed) Cornea plana 2 (autosomal recessive) (OMIM ID: 217300) 12q21 DSPG3 (provisional) Dermatan sulfate proteoglycan 3 (OMIM ID: 601657) 12q21 MYF5 (provisional) Myogenic factor-5 (OMIM ID: 159990) 12q21 MYF6 (confirmed) Myogenic factor-6 (OMIM ID: 159991) 12q21 NTS (confirmed) Neurotensin (OMIM ID: 162650) 12q21 PAWR, PAR4 (confirmed) PRKC, apoptosis, WT1, regulator (OMIM ID: 601936) 12q21 PEPB (confirmed) Peptidase B (OMIM ID: 169900) 12q21-q23 ATP2B1, PMCA1 (provisional) ATPase, Ca++ transporting, plasma membrane, 1 (OMIM ID: 108731) 12q21-q23 MYP3 (provisional) Myopia, high grade, autosomal dominant 2 (OMIM ID: 603221) 12q21.1 CSRP2, LMO5 (confirmed) Cysteine and glycine-rich protein-2 (LIM domain only 5, smooth muscle) (OMIM ID: 601871) 12q21.3-q22 CART1 (provisional) Cartilage homeoprotein 1 (OMIM ID: 601527) 12q21.3-q22 GALNT4, GalNAcT4 (provisional) UDP-N-acetyl-D-galactosamine:polypeptide (OMIM ID: 603565) 12q21.3-q22 KERA (tentative) Keratocan (OMIM ID: 603288) 12q21.3-q22 LUM, LDC (confirmed) Lumican (OMIM ID: 600616) 12q21.33-q23.1 CRADD, RAIDD (provisional) Caspase and RIP adaptor with death domain (OMIM ID: 603454) 12q22 BTG1 (provisional) B-cell translocation gene 1, anti-proliferative (OMIM ID: 109580) 12q22 LTA4H (provisional) Leukotriene A4 hydrolase (OMIM ID: 151570) 12q22 MGCT (confirmed) Male germ cell tumor (OMIM ID: 273300) 12q22 MGF (confirmed) Mast cell growth factor (OMIM ID: 184745) 12q22 NEDD1 (provisional) Neural precursor cell expressed, developmentally down-regulated 1 (OMIM ID: 600372) 12q22 TMPO (provisional) Thymopoietin (OMIM ID: 188380) 12q22 ZNF144, MEL18 (provisional) Zinc finger protein-144 (Mel-18) (OMIM ID: 600346) 12q22-q23 ASCL1, ASH1 (confirmed) Achaete-scute complex (Drosophila) homolog-like 1 (OMIM ID: 100790) 12q22-q23 DUSP6, MKP3, PYST1 (provisional) Dual-specificity phosphatase-6 (OMIM ID: 602748) 12q22-q23 HAL, HSTD (confirmed) Histidine ammonia-lyase (histidase) (OMIM ID: 235800) 12q22-q23 NFYB (provisional) Transcription factor NF-Y, B subunit (OMIM ID: 189904) 12q22-q24.1 IGF1 (confirmed) Insulin-like growth factor-1, or somatomedin C (OMIM ID: 147440) 12q22-qter ACADS, SCAD (confirmed) Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain (OMIM ID: 201470) 12q23 DCN (confirmed) Decorin (OMIM ID: 125255) 12q23 ELK3, SAP2 (provisional) ELK3, ETS-domain protein (SRF accessory protein 2) (OMIM ID: 600247) 12q23 PHC (confirmed) Phosphate carrier, mitochondrial (OMIM ID: 600370) 12q23-q24 CLTA (provisional) Clathrin, light polypeptide (Lca) (OMIM ID: 118960) 12q23-q24 EPS8 (provisional) Epidermal growth factor receptor pathway substrate-8 (OMIM ID: 600206) 12q23-q24 PMCH (confirmed) Pro-melanin-concentrating hormone (OMIM ID: 176795) 12q23-q24 SMAL (provisional) Spinal muscular atrophy, congenital nonprogressive, of lower limbs (OMIM ID: 600175) 12q23-q24.1 ATP2A2, ATP2B, DAR (confirmed) ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2 (OMIM ID: 108740) 12q23-q24.1 CRY1, PHLL1 (provisional) Cryptochrome 1 (photolyase-like) (OMIM ID: 601933) 12q23-q24.1 NACA (provisional) Nascent-polypeptide-associated complex alpha polypeptide (OMIM ID: 601234) 12q23-q24.1 PLA2G1B, PLA2A, PLA2, PPLA2 (confirmed) Phospholipase A2, group IB (pancreas) (OMIM ID: 172410) 12q23-q24.1 TXNRD1, TXNR (provisional) Thioredoxin reductase-1 (OMIM ID: 601112) 12q23-q24.1 UNG, DGU (confirmed) Uracil-DNA glycosylase (OMIM ID: 191525) 12q23-q24.3 MYL2 (provisional) Myosin, light polypeptide-2, regulatory, cardiac, slow (OMIM ID: 160781) 12q24 ATX2, SCA2 (confirmed) Ataxin-2 (OMIM ID: 601517) 12q24 BDC (provisional) Brachydactyly, type C (OMIM ID: 113100) 12q24 DAO, DAMOX (confirmed) D-amino-acid oxidase (OMIM ID: 124050) 12q24 MVK, MVLK (confirmed) Mevalonate kinase (OMIM ID: 251170) 12q24 NS1, CFC (confirmed) Noonan syndrome 1 (OMIM ID: 163950) 12q24 P2RX7, P2X7 (provisional) Purinergic receptor P2X, ligand-gated ion channel, 7 (OMIM ID: 602566) 12q24 PXN (provisional) Paxillin (OMIM ID: 602505) 12q24 SELPLG, PSGL1 (provisional) Selectin P ligand (OMIM ID: 600738) 12q24 SMA4, HMN2 (provisional) Spinal muscular atrophy-4 (OMIM ID: 158590) 12q24-qter HPD (confirmed) 4-hydroxyphenylpyruvate dioxygenase (OMIM ID: 276710) 12q24.1 ACACB, ACCB (provisional) Acetyl-Coenzyme A carboxylase, beta (OMIM ID: 601557) 12q24.1 PAH, PKU1 (confirmed) Phenylalanine hydroxylase (OMIM ID: 261600) 12q24.1 BCL7A, BCL7 (provisional) B-cell CLL/lymphoma-7A (OMIM ID: 601406) 12q24.1 CMKLR1 (provisional) Chemokine-like receptor 1 (OMIM ID: 602351) 12q24.1 PRKAB1 (provisional) Protein kinase, AMP-activated, noncatalytic, beta-1 (OMIM ID: 602740) 12q24.1 PTPN11 (provisional) Protein tyrosine phosphatase, non-receptor type 11 (OMIM ID: 176876) 12q24.1 TBX3 (confirmed) T-box 3 (OMIM ID: 601621) 12q24.1 TBX5 (confirmed) T-box 5 (OMIM ID: 601620) 12q24.1 TDG (provisional) Thymine-DNA glycosylase (OMIM ID: 601423) 12q24.1-q24.2 PPP1CC (confirmed) Protein phosphatase-1, catalytic subunit, gamma isoform (OMIM ID: 176914) 12q24.1-q24.31 MSI1 (confirmed) Musashi, drosophila, homolog of, 1 (OMIM ID: 603328) 12q24.1-q24.31 SPSMA (provisional) Scapuloperoneal spinal muscular atrophy, New England type (OMIM ID: 181405) 12q24.2 ALDH2 (confirmed) Aldehyde dehydrogenase-2, mitochondrial (OMIM ID: 100650) 12q24.2 OAS1, OIAS (confirmed) 2',5'-oligoadenylate synthetase-1 (OMIM ID: 164350) 12q24.2 OAS2 (provisional) 2',5'-oligoadenylate synthetase-2 (OMIM ID: 603350) 12q24.2 OAS3 (provisional) 2',5'-oligoadenylate synthetase-3 (OMIM ID: 603351) 12q24.2 OASL, TRIP14 (provisional) 2',5'-oligoadenylate synthetase-like (OMIM ID: 603281) 12q24.2 TCF1, HNF1A, MODY3 (confirmed) Interferon production regulator factor (HNF1), albumin proximal factor (OMIM ID: 142410) 12q24.2-q24.3 ALFN1, HALF1 (provisional) Activation of liver function 1 (OMIM ID: 603416) 12q24.2-q24.3 PSMD9 (provisional) Proteasome 26S subunit, non-ATPase, 9 (OMIM ID: 603146) 12q24.2-q24.3 TRA1 (provisional) Tumor rejection antigen-1 (gp96) (OMIM ID: 191175) 12q24.2-q24.31 NOS1 (confirmed) Nitric oxide synthase 1, neuronal (OMIM ID: 163731) 12q24.2-q24.3 RFC5 (provisional) Replication factor C (activator 1) 5 (36.5kD) (OMIM ID: 600407) 12q24.3 MUC8 (provisional) Mucin 8, tracheobronchial (OMIM ID: 601932) 12q24.3 NHP2L1 (provisional) Non-histone chromosome protein 2 (S. cerevisiae)-like 1 (OMIM ID: 601304) 12q24.3 POLE (provisional) Polymerase (DNA directed), epsilon (OMIM ID: 174762) 12q24.3 UBC (provisional) Ubiquitin C (OMIM ID: 191340) 12q24.3 ULK1, UNC51 (provisional) UNC51-like kinase 1 (OMIM ID: 603168) 12q24.31 DOC1 (provisional) Deleted in oral cancer-1 (OMIM ID: 602198) 12q24.31-q24.33 RSN (provisional) Restin (Reed-Steinberg cell expressed intermediate filament-associated (OMIM ID: 179838) 12q24.32 P2RX4, P2X4 (provisional) Purinergic receptor P2X, ligand-gated ion channel, 4 (OMIM ID: 600846) 12q24.33 MMP17 (provisional) Matrix metalloproteinase 17 (OMIM ID: 602285) 12q24.33 ZNF26 (provisional) Zinc finger protein-26 (KOX20) (OMIM ID: 194537) C Chr.12 ATP5G2 (provisional) ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C, (OMIM ID: 603193) Chr.12 MGST1, GST12 (provisional) Microsomal glutathione S-transferase 1 (OMIM ID: 138330) Chr.12 CCNT1, CCNT (provisional) Cyclin T1 (OMIM ID: 602506) Chr.12 CD36L1, CLA1 (provisional) CD36 antigen-like 1 (OMIM ID: 601040) Chr.12 DYRK2 (provisional) Dual-specificity tyrosine phosphorylation-regulated kinase 2 (OMIM ID: 603496) Chr.12 ERVT3, TRV3 (provisional) Endogenous retroviral sequence, truncated 3 (band T3, 17.8kb) (OMIM ID: 190960) Chr.12 FRV3 (provisional) Full-length endogenous retroviral sequence-3 (OMIM ID: 136890) Chr.12 GNAI2L, GNAI2A (confirmed) Guanine nucleotide-binding protein (G protein), alpha-inhibiting (OMIM ID: 139180) Chr.12 HIVE1 (provisional) Human immunodeficiency virus-1 expression (OMIM ID: 143055) Chr.12 IGFBP6 (provisional) Insulin-like growth factor-binding protein-6 (OMIM ID: 146735) Chr.12 LYZ (provisional) Lysozyme (OMIM ID: 153450) Chr.12 MARS, MTRNS, METRS (provisional) Methioninyl-tRNA synthetase (OMIM ID: 156560) Chr.12 MYBPC1 (provisional) Myosin-binding protein C, slow type (OMIM ID: 160794) Chr.12 PFKX (provisional) Phosphofructokinase X (OMIM ID: 171880) Chr.12 TUBAL1 (provisional) Tubulin, alpha-like-1 (OMIM ID: 191120) 1 13p12 RNR1 (confirmed) Ribosomal RNA-1 (OMIM ID: 180450) 13q RPL21 (confirmed) Ribosomal protein L21 (OMIM ID: 603636) 13q11 TUBA2 (provisional) Tubulin, alpha 2 (OMIM ID: 602528) 13q11-q12 FGF9 (provisional) Fibroblast growth factor-9 (glia-activating factor) (OMIM ID: 600921) 13q11-q12 GJB2, CX26, DFNB1 (confirmed) Gap junction protein, beta-2, 26kD (connexin 26) (OMIM ID: 121011) 13q11-q12 GJA3, CX46, CZP3, CAE3 (confirmed) Gap junction protein, alpha-3, 46kD (connexin 46) (OMIM ID: 121015) 13q11-q12 ZNF198, SCLL, RAMP, FIM (confirmed) Zinc finger protein-198 (OMIM ID: 602221) 13q11-q12.1 ED2, HED, EDH (confirmed) Ectodermal dysplasia 2, hidrotic (OMIM ID: 129500) 13q12 ALOX5AP, FLAP (confirmed) Arachidonate 5-lipoxygenase-activating protein (OMIM ID: 603700) 13q12 CDK8 (provisional) Cyclin-dependent kinase 8 (OMIM ID: 603184) 13q12 FLT1 (confirmed) fms-related tyrosine kinase-1 (vascular endothelial growth (OMIM ID: 165070) 13q12 FLT3 (confirmed) fms-related tyrosine kinase-3 (OMIM ID: 136351) 13q12 GPR12 (provisional) G protein-coupled receptor-12 (OMIM ID: 600752) 13q12 HMG1 (provisional) High-mobility group (nonhistone chromosomal) protein 1 (OMIM ID: 163905) 13q12 MIPEP (provisional) Mitochondrial intermediate peptidase (OMIM ID: 602241) 13q12 MTMR6 (confirmed) Myotubularin-related protein 6 (OMIM ID: 603561) 13q12 SACS, ARSACS (provisional) Spastic ataxia, Charlevoix-Saguenay type (OMIM ID: 270550) 13q12 SGCG, LGMD2C, DMDA1, SCG3 (confirmed) Sarcoglycan, gamma (35kD dystrophin-associated glycoprotein) (OMIM ID: 253700) 13q12-q14 MADH9, SMAD9, MADH6 (provisional) Mothers against decapentaplegic, drosophila, homolog of, 9 (OMIM ID: 603295) 13q12-q14 TPT1, HRF (provisional) Tumor protein, translationally-controlled 1 (OMIM ID: 600763) 13q12.1 D13S1056E, TG737 (confirmed) Probe hTg737 (polycystic kidney disease, autosomal recessive, in (OMIM ID: 600595) 13q12.1 IPF1 (provisional) Insulin promoter factor 1, homeodomain transcription factor (OMIM ID: 600733) 13q12.1-q12.3 ATP1AL1 (confirmed) ATPase, Na+K+ transporting, alpha-1 polypeptide-like (OMIM ID: 182360) 13q12.2-q13 MBS (tentative) Moebius syndrome (OMIM ID: 157900) 13q12.3 BRCA2 (confirmed) Breast cancer-2, early onset (OMIM ID: 600185) 13q12.3 CDX2, CDX3 (confirmed) Caudal type homeo box transcription factor 2 (OMIM ID: 600297) 13q12.3 SLC7A1, ATRC1 (confirmed) Solute carrier family 7 (cationic amino acid transporter, y+ system), (OMIM ID: 104615) 13q12.3-q13 RFC3 (provisional) Replication factor C (activator 1) 3 (38kD) (OMIM ID: 600405) 13q12.3-q13.1 GTF3A, TFIIIA (provisional) General transcription factor IIIA (OMIM ID: 600860) 13q13 CSNK1A1 (provisional) Casein kinase-1, alpha-1 polypeptide (OMIM ID: 600505) 13q13 MAB21L1 (provisional) mab-21 (C. elegans)-like 1 (OMIM ID: 601280) 13q13-q14.3 ENUR1 (provisional) Enuresis, nocturnal, 1 (OMIM ID: 600631) 13q14 BRI, ABRI, FBD (provisional) BRI gene (OMIM ID: 603904) 13q14 D13S25, DBM (provisional) Disrupted in B-cell neoplasia (OMIM ID: 109543) 13q14 RFXAP (provisional) Regulatory factor X-associated protein (OMIM ID: 601861) 13q14 RIEG2, RGS2 (confirmed) Rieger syndrome, type 2 (OMIM ID: 601499) 13q14 SLC25A15, ORNT1, HHH (confirmed) Solute carrier family 25 (mitochondrial carrier), member 15 (OMIM ID: 603861) 13q14 TNFSF11, OPGL, TRANCE (provisional) Tumor necrosis factor ligand superfamily, member 11 (osteoprotegerin (OMIM ID: 602642) 13q14 XRS (tentative) X-ray sensitivity (OMIM ID: 194370) 13q14-q21 HTR2A (confirmed) 5-hydroxytryptamine (serotonin) receptor-2A (OMIM ID: 182135) 13q14.1 FKHR (provisional) Forkhead (Drosophila) homolog 1 (rhabdomyosarcoma) (OMIM ID: 136533) 13q14.1-q14.2 RB1 (confirmed) Retinoblastoma-1 (OMIM ID: 180200) 13q14.1-q14.3 LCP1 (confirmed) Lymphocyte cytosolic protein-1 (plasmin) (OMIM ID: 153430) 13q14.11 CPB2, CPU (confirmed) Carboxypeptidase B2, plasma (OMIM ID: 603101) 13q14.11 ESD (confirmed) Esterase D; S-formylglutathione hydrolase (OMIM ID: 133280) 13q14.3 CHC1L (provisional) Chromosome condensation 1-like (OMIM ID: 603524) 13q14.3 GUCY1B2 (provisional) Guanylate cyclase 1, soluble, beta-2 (OMIM ID: 603695) 13q14.3 KPNA3 (provisional) Karyopherin (importin) alpha-3 (OMIM ID: 601892) 13q14.3 PCDH8 (provisional) Protocadherin 8 (OMIM ID: 603580) 13q14.3-q21.1 ATP7B, WND (confirmed) ATPase, Cu++ transporting, beta polypeptide (OMIM ID: 277900) 13q21 SCA8 (provisional) Spinocerebellar ataxia 8 (OMIM ID: 603680) 13q21-q32 PAPA2 (provisional) Postaxial polydactyly, type A2 (OMIM ID: 602085) 13q21.1 PCDH9 (provisional) Protocadherin 9 (OMIM ID: 603581) 13q21.1-q22 POU4F1, BRN3A (confirmed) POU domain, class 4, transcription factor 1 (OMIM ID: 601632) 13q21.1-q32 CLN5 (confirmed) Ceroid-lipofuscinosis, neuronal-5 (OMIM ID: 256731) 13q22 DACH (provisional) Dachshund, drosophila, homolog of (OMIM ID: 603803) 13q22 EDNRB, HSCR2 (confirmed) Endothelin receptor type B (OMIM ID: 131244) 13q31-q32 DCT, TYRP2 (provisional) Dopachrome tautomerase (dopachrome delta-isomerase; tyrosinase-related (OMIM ID: 191275) 13q31-q32 MCOR (provisional) Microcoria, congenital (OMIM ID: 156600) 13q32 GPC5 (provisional) Glypican 5 (OMIM ID: 602446) 13q32 GPR18 (provisional) G protein-coupled receptor-18 (OMIM ID: 602042) 13q32 PCCA (confirmed) Propionyl Coenzyme A carboxylase, alpha polypeptide (OMIM ID: 232000) 13q32 SCZD7 (provisional) Schizophrenia susceptibility locus, chromosome 13q-related (OMIM ID: 603176) 13q32 ZIC2, HPE5 (provisional) ZIC family member 2 (OMIM ID: 603073) 13q32-q33 TPP2 (confirmed) Tripeptidyl peptidase II (OMIM ID: 190470) 13q32-q34 TNFSF13B, BLYS, BAFF (provisional) Tumor necrosis factor ligand superfamily, member 13B (OMIM ID: 603969) 13q33 ERCC5, XPG (confirmed) Excision-repair, complementing defective, in Chinese hamster, (OMIM ID: 133530) 13q33 EFNB2, EPLG5, LERK5, HTKL (provisional) eph-related receptor tyrosine kinase ligand 5 (ephrin-B2) (OMIM ID: 600527) 13q33 SLC10A2, NTCP2 (confirmed) Solute carrier family 10 (sodium/bile acid cotransporter family), (OMIM ID: 601295) 13q33-q34 SLC15A1, HPECT1 (provisional) Solute carrier family 15 (oligopeptide transporter), member 1 (OMIM ID: 600544) 13q22-q34 LIG4 (provisional) Ligase IV, DNA, ATP-dependent (OMIM ID: 601837) 13q34 ATP4B (provisional) ATPase, H+, K+ transporting, beta (OMIM ID: 137217) 13q34 COL4A1 (confirmed) Collagen IV, alpha-1 polypeptide (OMIM ID: 120130) 13q34 COL4A2 (confirmed) Collagen IV, alpha-2 polypeptide (OMIM ID: 120090) 13q34 F7 (confirmed) Coagulation factor VII (OMIM ID: 227500) 13q34 F10 (confirmed) Coagulation factor X (OMIM ID: 227600) 13q34 FGF14, FHF4 (provisional) Fibroblast growth factor-14 (OMIM ID: 601515) 13q34 GAS6, AXLLG, AXSF (provisional) Growth arrest-specific 6 (OMIM ID: 600441) 13q34 ING1 (confirmed) Inhibitor of growth 1 (OMIM ID: 601566) 13q34 LAMP1 (confirmed) Lysosome-associated membrane protein-1 (OMIM ID: 153330) 13q34 RAP2A (provisional) RAP2, member of RAS oncogene family (K-rev) (OMIM ID: 179540) 13q34 RHOK, RK, GRK1 (provisional) Rhodopsin kinase (OMIM ID: 180381) 13q34 SOX1 (provisional) SRY (sex determining region Y)-box 1 (OMIM ID: 602148) 13q34 STGD2 (provisional) Stargardt disease 2 (autosomal dominant) (OMIM ID: 153900) 13q34 TFDP1, DP1 (provisional) Transcription factor Dp-1 (OMIM ID: 600425) C Chr.13 BRCD1 (provisional) Breast cancer, ductal, suppressor-1 (OMIM ID: 211410) Chr.13 ERVT5, TRV5 (provisional) Endogenous retroviral sequence, truncated 5 (OMIM ID: 190980) 1 14p12 RNR2 (confirmed) Ribosomal RNA-2 (OMIM ID: 180451) 14q ESR2 (provisional) Estrogen receptor-2 (ER beta) (OMIM ID: 601663) 14q MGEA, MEA6 (provisional) Meningioma expressed antigen (OMIM ID: 602132) 14q MNG1 (provisional) Multinodular goiter-1 (OMIM ID: 138800) 14q MPD1 (provisional) Myopathy, distal 1 (OMIM ID: 160500) 14q NOVA1 (tentative) Neurooncological ventral antigen 1 (OMIM ID: 602157) 14q RPS29 (provisional) Ribosomal protein S29 (OMIM ID: 603633) 14q YY1 (provisional) YY1 transcription factor (OMIM ID: 600013) 14q11 ANG, RNASE5 (provisional) Angiogenin (OMIM ID: 105850) 14q11-q12 DAD1 (provisional) Defender against cell death 1 (OMIM ID: 600243) 14q11-q12 MMP14 (provisional) Matrix metalloproteinase 14 (membrane-inserted) (OMIM ID: 600754) 14q11-q12 TRL1 (confirmed) tRNA leucine-1 (OMIM ID: 189932) 14q11-q12 TRP1 (confirmed) tRNA proline-1 (OMIM ID: 189930) 14q11-q12 TRP2 (confirmed) tRNA proline-2 (OMIM ID: 189931) 14q11-q12 TRT2 (confirmed) tRNA threonine-2 (OMIM ID: 189933) 14q11-q24 PIGH (tentative) Phosphatidylinositol glycan, class H (OMIM ID: 600154) 14q11.1-q11.2 NRL, D14S46E (confirmed) Neural retina leucine zipper (OMIM ID: 162080) 14q11.1-q12.1 SALL2, HSAL2 (provisional) Sal-like 2 (OMIM ID: 602219) 14q11.2 ADCY4 (confirmed) Adenylate cyclase-4 (OMIM ID: 600292) 14q11.2 CEBPE, CRP1 (tentative) CCAAT/enhancer-binding protein (C/EBP), epsilon (OMIM ID: 600749) 14q11.2 CMA1 (provisional) Chymase-1, mast cell (OMIM ID: 118940) 14q11.2 CTSG (confirmed) Cathepsin G (OMIM ID: 116830) 14q11.2 GZMB, CTLA1, CSPB (confirmed) Granzyme B (cytotoxic T-lymphocyte-associated serine esterase-1; (OMIM ID: 123910) 14q11.2 GZMH, CTSGL2 (confirmed) Granzyme H (cathepsin G-like 2) (OMIM ID: 116831) 14q11.2 ISGF3, ISGF3G (provisional) Interferon-stimulated gene transcription factor 3, gamma, 48kD (OMIM ID: 147574) 14q11.2 OXA1L (provisional) Oxidase (cytochrome c) assembly 1-like (OMIM ID: 601066) 14q11.2 PSMB5, LMPX (provisional) Proteasome subunit, beta type, 5 (OMIM ID: 600306) 14q11.2 PSME1, IFI5111 (provisional) Proteasome activator subunit-1 (OMIM ID: 600654) 14q11.2 PSME2 (provisional) Proteasome activator subunit-2 (OMIM ID: 602161) 14q11.2 RABGGTA (provisional) Rab geranylgeranyltransferase, alpha subunit (OMIM ID: 601905) 14q11.2 SLC7A7, LPI (confirmed) Solute carrier family 7 (cationic amino acid transporter, y+ system), (OMIM ID: 603593) 14q11.2 TCRA (confirmed) T-cell antigen receptor, alpha polypeptide (OMIM ID: 186880) 14q11.2 TCRD (confirmed) T-cell antigen receptor, delta polypeptide (OMIM ID: 186810) 14q11.2 TEP1, TP1 (provisional) Telomerase-associated protein-1 (OMIM ID: 601686) 14q11.2 TGM1, ICR2, LI (confirmed) Transglutaminase-1 (K polypeptide epidermal type I, protein-glutamine (OMIM ID: 190195) 14q11.2-q12 BCL2L2, BCLW (provisional) BCL2-like 2 (OMIM ID: 601931) 14q11.2-q12 LTB4R, CMKRL1, P2RY7, BLTR, (provisional) Leukotriene b4 receptor (purinergic receptor P2Y, G protein-coupled, (OMIM ID: 601531) 14q11.2-q13 PABP2, PAB2 (confirmed) Poly(A)-binding protein-2 (OMIM ID: 602279) 14q11.2-q24.3 SPG3A (confirmed) Spastic paraplegia-3A (OMIM ID: 182600) 14q12 APEX, APE (confirmed) APEX nuclease (multifunctional DNA repair enzyme) (OMIM ID: 107748) 14q12 DFNB5 (provisional) Deafness, autosomal recessive 5 (OMIM ID: 600792) 14q12 MYH6 (confirmed) Myosin, heavy polypeptide-6, cardiac muscle, alpha (OMIM ID: 160710) 14q12 MYH7, CMH1 (confirmed) Myosin, heavy polypeptide-7, cardiac muscle, beta (OMIM ID: 160760) 14q12-q13 DFNA9, COCH (confirmed) Cochlin (OMIM ID: 603196) 14q12-q13 PAX9 (provisional) Paired box homeotic gene-9 (OMIM ID: 167416) 14q12-q13 HNF3A (provisional) Hepatocyte nuclear factor-3, alpha (OMIM ID: 602294) 14q12-q22 ARVD3 (provisional) Arrhythmogenic right ventricular dysplasia-3 (OMIM ID: 602086) 14q13 FKHL1, FKH2, QIN, BF1 (confirmed) Forkhead, drosophila, homolog-like 1 (OMIM ID: 164874) 14q13 FKHL2, HBF2, BF2 (provisional) Forkhead, drosophila, homolog-like 2 (OMIM ID: 600779) 14q13 NFKBIA, IKBA (provisional) Nuclear factor of kappa light chain gene enhancer in B-cells (OMIM ID: 164008) 14q13 SSTR1 (confirmed) Somatostatin receptor-1 (OMIM ID: 182451) 14q13 TITF1, NKX2A, TTF1 (provisional) Thyroid transcription factor 1 (NK-2, Drosophila, homolog of, A) (OMIM ID: 600635) 14q13 TMIP (tentative) Tetramelic mirror-image polydactyly (OMIM ID: 135750) 14q13.1 NP (confirmed) Nucleoside phosphorylase (OMIM ID: 164050) 14q21 MGAT2, CDGS2 (provisional) mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyl- (OMIM ID: 602616) 14q21 SOS2 (provisional) Son of sevenless (Drosophila) homolog 2 (OMIM ID: 601247) 14q21-q22 LGALS3, MAC2, GALBP (provisional) Lectin, galactose-binding, soluble, 3 (OMIM ID: 153619) 14q21-q22 OTX2 (provisional) Orthodenticle (Drosophila) homolog 2 (OMIM ID: 600037) 14q21-q22 PYGL (provisional) Phosphorylase, glycogen, liver (OMIM ID: 232700) 14q21-q22 RTN1, NSP (provisional) Reticulon 1 (neuroendocrine-specific protein) (OMIM ID: 600865) 14q21-q24 HIF1A, MOP1 (provisional) Hypoxia-inductible factor 1, alpha subunit (OMIM ID: 603348) 14q22 CDKN3 (provisional) Cyclin-dependent kinase inhibitor 3 (CDK2-associated dual (OMIM ID: 123832) 14q22 CG1 (provisional) CG-1 antigen (OMIM ID: 600381) 14q22-q23.2 SPTB (confirmed) Spectrin, beta, erythrocytic (OMIM ID: 182870) 14q22-q24 BRF1, ERF1 (provisional) Butyrate response factor 1 (EGF-response factor 1) (OMIM ID: 601064) 14q22-q23 BMP4, BMP2B1 (confirmed) Bone morphogenetic protein-4 (OMIM ID: 112262) 14q22-q24 ACTN1 (provisional) Actinin, alpha-1 (OMIM ID: 102575) 14q22.1 KTN1 (provisional) Kinectin 1 (kinesin receptor) (OMIM ID: 600653) 14q22.1-q22.2 GCH1, DYT5 (provisional) GTP cyclohydrolase 1 (OMIM ID: 600225) 14q23 FUT8 (provisional) Fucosyltransferase 8 (OMIM ID: 602589) 14q23 MAX (provisional) MAX protein (OMIM ID: 154950) 14q23 MNAT1, MAT1 (provisional) Menage a trois 1 (OMIM ID: 602659) 14q23 PSMA3 (provisional) Proteasome (prosome, macropain) subunit, alpha type, 3 (OMIM ID: 176843) 14q23-q24 ARVD1 (provisional) Arrhythmogenic right ventricular dysplasia-1 (OMIM ID: 107970) 14q23-q24 FNTB (provisional) Farnesyltransferase, CAAX box, beta (OMIM ID: 134636) 14q23-q24 ZNF46, KUP (provisional) Zinc finger protein-46 (KUP) (OMIM ID: 194541) 14q23.3-q24 RAD51L1 (provisional) RAD51. S. cerevisiae, homolog of, like 1 (OMIM ID: 602948) 14q24 CD39L4 (provisional) CD39-like 4 (OMIM ID: 603162) 14q24 DLC1, PIN (provisional) Dynein, cytoplasmic, light chain (protein inhibitor of (OMIM ID: 601562) 14q24 LTBP2, LTBP3 (provisional) Latent transforming growth factor beta binding protein-2 (OMIM ID: 602091) 14q24 MTHFD, MTHFC (confirmed) 5,10-methylenetetrahydrofolate dehydrogenase, (OMIM ID: 172460) 14q24 TGFB3 (provisional) Transforming growth factor, beta-3 (OMIM ID: 190230) 14q24-q31 CALM1, PHKD (confirmed) Calmodulin-1 (phosphorylase kinase, delta) (OMIM ID: 114180) 14q24-q31 PGF, PLGF (provisional) Placental growth factor, vascular endothelial growth factor-related (OMIM ID: 601121) 14q24-q31 RNASE2, RNS2, EDN (confirmed) Ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (OMIM ID: 131410) 14q24-q31 RNASE3, RNS3, ECP (confirmed) Ribonuclease, RNase A family, 3 (eosinophil cationic protein) (OMIM ID: 131398) 14q24-qter CTAA1 (tentative) Cataract, anterior polar, 1 (OMIM ID: 115650) 14q24.1 GPX2 (confirmed) Glutathione peroxidase-2, gastrointestinal (OMIM ID: 138319) 14q24.1 HSPA2 (confirmed) Heat-shock 70kD protein-2 (OMIM ID: 140560) 14q24.1-q24.3 ARG2 (provisional) Arginase II (OMIM ID: 107830) 14q24.2-q24.3 MDG1 (provisional) Microvascular endothelial differentiation gene-1 (OMIM ID: 602634) 14q24.3 CHX10, HOX10 (provisional) C. elegans ceh-10 homeo domain-containing homolog (OMIM ID: 142993) 14q24.3 DLST (confirmed) Dihydrolipoamide S-succinyltransferase (E2 component of (OMIM ID: 126063) 14q24.3 ESRRB, ESRL2 (provisional) Estrogen-related receptor beta (OMIM ID: 602167) 14q24.3 FOS (confirmed) FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS) (OMIM ID: 164810) 14q24.3 GSTZ1, MAAI (provisional) Glutathione S-transferase, zeta-1 (OMIM ID: 603758) 14q24.3 NUMB, S171 (provisional) Numb, drosophila, homolog of (OMIM ID: 603728) 14q24.3 PSEN1, AD3 (confirmed) Presenilin 1 (OMIM ID: 104311) 14q24.3 PXMP1L, P79R, PMP69 (confirmed) Peroxisomal membrane protein 1-like (OMIM ID: 603214) 14q24.3 UBE2L1, UBCL, UBC4 (provisional) Ubiquitin-conjugating enzyme E2L 1 (OMIM ID: 600012) 14q24.3-q31 CHES1 (provisional) Checkpoint suppressor 1 (OMIM ID: 602628) 14q24.3-q31 IDDM11 (provisional) Insulin-dependent diabetes mellitus-11 (OMIM ID: 601208) 14q24.3-q31 MJD, SCA3 (confirmed) Machado-Joseph disease (spinocerebellar ataxia 3, (OMIM ID: 109150) 14q24.3-q31 MLK1 (provisional) Mixed lineage kinase 1 (tyr and ser/thr specificity) (OMIM ID: 600136) 14q24.3-q31.1 CERD4 (provisional) cer-d4 (mouse) homolog (OMIM ID: 601672) 14q31 GALC (confirmed) Galactosylceraminidase (OMIM ID: 245200) 14q31 OGR1 (provisional) Ovarian cancer G protein-coupled receptor, 1 (OMIM ID: 601404) 14q31 SEL1L (provisional) Suppressor of lin 12 (sel-1), C. elegans, homolog of (OMIM ID: 602329) 14q31 TSHR (confirmed) Thyroid-stimulating hormone receptor (OMIM ID: 603372) 14q32 CCNK (provisional) Cyclin K (OMIM ID: 603544) 14q32 CHGA (confirmed) Chromogranin A, parathyroid secretory protein-1 (OMIM ID: 118910) 14q32 CKB, CKBB (confirmed) Creatine kinase, brain type (OMIM ID: 123280) 14q32 CKBE (provisional) Creatine kinase, ectopic expression (OMIM ID: 123270) 14q32 DNCL, DNECL (provisional) Dynein, cytoplasmic-like (OMIM ID: 600112) 14q32 EMAPL, EMAP (provisional) Echinoderm microtubule-associated protein-like (OMIM ID: 602033) 14q32 IFI27 (provisional) Interferon, alpha-inducible protein-27 (OMIM ID: 600009) 14q32 MCOP (provisional) Microphthalmia, autosomal recessive (OMIM ID: 251600) 14q32 TNFAIP2 (provisional) Tumor necrosis factor, alpha-induced protein-2 (OMIM ID: 603300) 14q32 USH1A, USH1 (confirmed) Usher syndrome-1A, autosomal recessive, severe (OMIM ID: 276900) 14q32 VRK1 (provisional) Vaccinia-related kinase-1 (OMIM ID: 602168) 14q32.1 AACT (confirmed) Alpha-1-antichymotrypsin (OMIM ID: 107280) 14q32.1 CBG (confirmed) Corticosteroid-binding globulin (OMIM ID: 122500) 14q32.1 CYP46 (provisional) Cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase) (OMIM ID: 604087) 14q32.1 GSC (provisional) Goosecoid (OMIM ID: 138890) 14q32.1 PCI, PLANH3 (confirmed) Protein C inhibitor (plasminogen activator inhibitor-3) (OMIM ID: 601841) 14q32.1 PI, AAT (confirmed) Protease inhibitor (alpha-1-antitrypsin) (OMIM ID: 107400) 14q32.1 PIL, ATR, ARGS (provisional) Protease inhibitor 1-like (OMIM ID: 107410) 14q32.1 PRSC1 (provisional) Protease, cysteine, 1 (legumain) (OMIM ID: 602620) 14q32.1 TCL1A, TCL1 (confirmed) T-cell lymphoma-1A (OMIM ID: 186960) 14q32.1-q32.2 BDKRB1 (provisional) Bradykinin receptor B1 (OMIM ID: 600337) 14q32.1-q32.2 BDKRB2 (confirmed) Bradykinin receptor B2 (OMIM ID: 113503) 14q32.3 AKT1 (confirmed) Murine thymoma viral (v-akt) oncogene homolog-1 (OMIM ID: 164730) 14q32.3 BST1 (provisional) Bone marrow stromal cell antigen 1 (OMIM ID: 600387) 14q32.3 CRIP2, CRP2 (confirmed) Cysteine-rich intestinal protein 2 (OMIM ID: 601183) 14q32.3 HSPCAL4 (confirmed) Heat-shock 90kD protein, alpha-like-4 (OMIM ID: 140576) 14q32.3 KNS2 (confirmed) Kinesin 2 (60-70kD) (OMIM ID: 600025) 14q32.3 MARK3 (provisional) MAP/microtubule affinity-regulating kinase-3 (OMIM ID: 602678) 14q32.3 XRCC3 (provisional) X-ray-repair, complementing defective, repair in Chinese hamster (OMIM ID: 600675) 14q32.31 WARS (confirmed) Tryptophanyl-tRNA synthetase (OMIM ID: 191050) 14q32.33 IGH@ (confirmed) IMMUNOGLOBULIN HEAVY CHAIN GENE CLUSTER (OMIM ID: ) 14q32.33 IGD1 (confirmed) D (diversity) region of heavy chains (OMIM ID: 146910) 14q32.33 IGHA1 (confirmed) Constant region of heavy chain of IgA1 (OMIM ID: 146900) 14q32.33 IGHA2 (confirmed) Constant region of heavy chain of IgA2 (OMIM ID: 147000) 14q32.33 IGHD (confirmed) Constant region of heavy chain of IgD (OMIM ID: 147170) 14q32.33 IGHE (confirmed) Constant region of heavy chain of IgE (OMIM ID: 147180) 14q32.33 IGHG1 (confirmed) Constant region of heavy chain of IgG1 (OMIM ID: 147100) 14q32.33 IGHG2 (confirmed) Constant region of heavy chain of IgG2 (OMIM ID: 147110) 14q32.33 IGHG3 (confirmed) Constant region of heavy chain of IgG3 (OMIM ID: 147120) 14q32.33 IGHG4 (confirmed) Constant region of heavy chain of IgG4 (OMIM ID: 147130) 14q32.33 IGHJ (confirmed) J (joining) region of heavy chains (OMIM ID: 147010) 14q32.33 IGHM, MU (confirmed) Constant region of heavy chain of IgM (OMIM ID: 147020) 14q32.33 IGHR (tentative) Immunoglobulin heavy chain regulator (OMIM ID: 144120) 14q32.33 IGHV@ (confirmed) Immunoglobin heavy polypeptide, variable region (many genes) (OMIM ID: 147070) C Chr.14 ACHM1, RMCH1 (provisional) Achromatopsia-1 (OMIM ID: 603096) Chr.14 CFL2 (provisional) Cofilin 2 (muscle) (OMIM ID: 601443) Chr.14 COX7A3 (provisional) Cytochrome c oxidase, subunit VIIa, polypeptide-3 (liver) (OMIM ID: 123997) Chr.14 ESAT (provisional) Esterase activator (OMIM ID: 133250) Chr.14 ERVT1, TRV1 (provisional) Endogenous retroviral sequence, truncated 1 (band T1, 26.0kb) (OMIM ID: 190940) Chr.14 FDPSL3, FPSL3 (provisional) Farnesyl diphosphate synthase-like 3 (farnesyl pyrophosphate (OMIM ID: 134633) Chr.14 K12T (confirmed) Temperature sensitivity complementation, K12 (OMIM ID: 187310) Chr.14 LCH (confirmed) Lentil agglutinin-binding (OMIM ID: 151020) Chr.14 M195 (provisional) External membrane protein-195 (OMIM ID: 133740) Chr.14 MPS3C (tentative) Mucopolysaccharidosis, type IIIC (OMIM ID: 252930) Chr.14 PI4, KLST (provisional) Protease inhibitor 4 (kallistatin) (OMIM ID: 147935) Chr.14 RNASE1, RNS1 (tentative) Ribonuclease, RNase A family, 1 (pancreatic) (OMIM ID: 180440) Chr.14 RNASE4, RNS4 (provisional) Ribonuclease, RNase A family, 4 (OMIM ID: 601030) Chr.14 RNASE6 (provisional) Ribonuclease, RNase A family, k6 (OMIM ID: 601981) Chr.14 RPL36A (provisional) Ribosomal protein L36A (OMIM ID: 180469) Chr.14 SIX1 (provisional) Sine oculis homeo box (Drosophila) homolog-1 (OMIM ID: 601205) Chr.14 SLC8A2, NCX2 (provisional) Solute carrier family 8, member 2 (sodium-calcium exchanger 2) (OMIM ID: 601901) Chr.14 SLC10A1, NTCP1 (provisional) Solute carrier family 10 (sodium/bile acid cotransporter family), (OMIM ID: 182396) 1 15p12 RNR3 (confirmed) Ribosomal RNA-3 (OMIM ID: 180452) 15q APBA2 (provisional) Amyloid beta A4 precursor protein-binding, family A, member 2 (OMIM ID: 602712) 15q NAPTB (tentative) Neuronal adaptin-like protein, beta-subunit (OMIM ID: 602166) 15q NEDD4 (provisional) Neural precursor cell expressed, developmentally downregulated-4 (OMIM ID: 602278) 15q RPS17 (provisional) Ribosomal protein S17 (OMIM ID: 180472) 15q11 PWCR, PWS (confirmed) Prader-Willi syndrome chromosome region (OMIM ID: 176270) 15q11-q12 IGHDY2 (provisional) Immunoglobulin heavy chain diversity region-2 (OMIM ID: 146990) 15q11-q12 MIC7 (provisional) Attached cell antigen 28.3.7 (OMIM ID: 108990) 15q11-q13 AHO2 (tentative) Albright hereditary osteodystrophy-2 (OMIM ID: 103581) 15q11-q13 BCL8 (provisional) B-cell CLL/lymphoma-8 (OMIM ID: 601889) 15q11-q13 IPW (provisional) Imprinted in Prader-Willi syndrome (OMIM ID: 601491) 15q11-q13 MANA1 (confirmed) Mannosidase, alpha A, cytoplasmic (OMIM ID: 154580) 15q11-q13 NDN (confirmed) Necdin (OMIM ID: 602117) 15q11-q13 D15S227E, PAR1 (provisional) Prader-Willi/Angelman region-1 (OMIM ID: 600161) 15q11-q13 D15S226E, PAR5 (provisional) Prader-Willi/Angelman syndrome-5 (OMIM ID: 600162) 15q11-q13 UBE3A, ANCR (confirmed) Ubiquitin protein ligase E3A (OMIM ID: 601623) 15q11-q15 EYCL3 (provisional) Eye color 3 (brown) (OMIM ID: 227220) 15q11-q15 HCL3 (provisional) Hair color 3 (brown) (OMIM ID: 601800) 15q11-q15 SGNE1 (provisional) Secretory granule, neuroendocrine protein-1; 7B2 protein (OMIM ID: 173120) 15q11-q22 MIC12 (provisional) Antigen identified by monoclonal antibody 30.2A8 (OMIM ID: 107254) 15q11-qter HCVS (provisional) Human coronavirus sensitivity (OMIM ID: 122460) 15q11.1 SPG6 (provisional) Spastic paraplegia-6 (OMIM ID: 600363) 15q11.2-q12 GABRB3 (confirmed) Gamma-aminobutyric acid (GABA) A receptor, beta-3 (OMIM ID: 137192) 15q11.2-q12 GABRA5 (confirmed) Gamma-aminobutyric acid (GABA) A receptor, alpha-5 (OMIM ID: 137142) 15q11.2-q12 GABRG3 (provisional) Gamma-aminobutyric acid (GABA) A receptor, gamma-3 (OMIM ID: 600233) 15q11.2-q12 OCA2, P, PED, D15S12 (confirmed) Oculocutaneous albinism II (pink-eye dilution (murine) homolog) (OMIM ID: 203200) 15q12 SNRPN (provisional) Small nuclear ribonucleoprotein polypeptide N (OMIM ID: 182279) 15q13 TJP1 (provisional) Tight junction protein 1 (zona occludens 1) (OMIM ID: 601009) 15q13-q14 FMN, LD (confirmed) Formin (limb deformity) (OMIM ID: 136535) 15q13-q14 MLSN1 (provisional) Melastatin (OMIM ID: 603576) 15q13-q15 ACCPN (provisional) Agenesis of corpus callosum and peripheral neuropathy (Andermann (OMIM ID: 218000) 15q13-q15 B2MR (confirmed) Beta-2-microglobulin regulator (OMIM ID: 109710) 15q13-qter MAP1A (provisional) Microtubule-associated protein 1A (OMIM ID: 600178) 15q14 ACTC (confirmed) Actin, alpha, cardiac muscle (OMIM ID: 102540) 15q14 CHRNA7 (confirmed) Cholinergic receptor, nicotinic, alpha polypeptide-7 (OMIM ID: 118511) 15q14 EJM1, JME (provisional) Epilepsy, juvenile myoclonic 1 (OMIM ID: 254770) 15q14-q15 IVD (provisional) Isovaleryl Coenzyme A dehydrogenase (OMIM ID: 243500) 15q14-q15 RYR3 (confirmed) Ryanodine receptor-3 (OMIM ID: 180903) 15q14-q21 BUB1B, BUBR1 (provisional) Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of, (OMIM ID: 602860) 15q14-q21 FDPSL4, FPSL4 (provisional) Farnesyl diphosphate synthase-like 4 (farnesyl pyrophosphate (OMIM ID: 134634) 15q14-q21 ITPKA (provisional) Inositol 1,4,5-trisphosphate 3-kinase A (OMIM ID: 147521) 15q14-q25 MEIS2, MRG1 (provisional) Meis1, mouse, homolog of, 2 (OMIM ID: 601740) 15q15 CKMT1 (confirmed) Creatine kinase, mitochondrial (OMIM ID: 123290) 15q15 EPB42 (confirmed) Erythrocyte surface protein band 4.2 (OMIM ID: 177070) 15q15 GRP58 (provisional) Glucose regulated protein, 58kD (OMIM ID: 602046) 15q15 SORD (confirmed) Sorbitol dehydrogenase (OMIM ID: 182500) 15q15 THBS1 (provisional) Thrombospondin 1 (OMIM ID: 188060) 15q15-q12 MFAP1 (confirmed) Microfibrillar-associated protein-1 (OMIM ID: 600215) 15q15-q21 CHR39B (provisional) Cholesterol repressible protein 39B (OMIM ID: 118480) 15q15-q21.1 DUT (provisional) dUTP pyrophosphatase (OMIM ID: 601266) 15q15-q21.1 FGF7 (confirmed) Fibroblast growth factor-7 (keratinocyte growth factor) (OMIM ID: 148180) 15q15-q21.1 SLC12A1, NKCC2 (confirmed) Solute carrier family 12 (sodium/potassium/chloride transporters), (OMIM ID: 600839) 15q15.1 RAD51A, RECA (confirmed) RAD51, S. cerevisiae, homolog of, A (E. coli RecA homolog) (OMIM ID: 179617) 15q15.1-q15.3 CDAN1, CDA1 (provisional) Congenital dyserythropoietic anemia, type I (OMIM ID: 224120) 15q15.1-q21.1 ALS5 (provisional) Amytrophic lateral sclerosis-5, juvenile recessive (OMIM ID: 602099) 15q15.1-q21.1 CAPN3, CANP3 (confirmed) Calpain, large polypeptide L3 (OMIM ID: 114240) 15q15.1-q21.1 LTK, TYK1 (confirmed) Leukocyte tyrosine kinase (OMIM ID: 151520) 15q15.1-q21.1 TYRO3 (confirmed) TYRO3 protein tyrosine kinase (OMIM ID: 600341) 15q21 CDAN3, CDA3 (provisional) Congenital dyserythropoietic anemia, type III (OMIM ID: 105600) 15q21 DYX1 (provisional) Dyslexia-1 (OMIM ID: 127700) 15q21 MYO5A, MYH12 (confirmed) Myosin, heavy polypeptide kinase (OMIM ID: 160777) 15q21 TCF12, HTF4 (provisional) Transcription factor-12 (HTF4, helix-loop-helix transcription (OMIM ID: 600480) 15q21-q22 ANX2, ANX2L4, LPC2D, LIP2 (confirmed) Annexin II (lipocortin I) (OMIM ID: 151740) 15q21-q22 B2M (confirmed) Beta-2-microglobulin (OMIM ID: 109700) 15q21-q22 DFNB16 (confirmed) Deafness, autosomal recessive 16 (OMIM ID: 603720) 15q21-q22 HDC (confirmed) Histidine decarboxylase (OMIM ID: 142704) 15q21-q22 MADH3, SMAD3 (provisional) Mothers against decapentaplegic, drosophila, homolog of, 3 (OMIM ID: 603109) 15q21-q22 MADH6, SMAD6 (provisional) Mothers against decapentaplegic, drosophila, homolog of, 6 (OMIM ID: 602931) 15q21-q22 MYO1C, MYO1E (provisional) Myosin IC (OMIM ID: 601479) 15q21-q22 RORA (provisional) RAR-related orphan receptor A (OMIM ID: 600825) 15q21-q23 CLN6 (confirmed) Ceroid-lipofuscinosis, neuronal 6, late infantile, variant (OMIM ID: 601780) 15q21-q23 LIPC (confirmed) Lipase, hepatic (OMIM ID: 151670) 15q21.1 CYP19, ARO (confirmed) Cytochrome P450, subfamily XIX (aromatization of androgens) (OMIM ID: 107910) 15q21.1 FBN1, MFS1 (confirmed) Fibrillin-1 (OMIM ID: 134797) 15q21.2 FACVL1, VLACS (provisional) Fatty acid coenzyme A ligase, very long-chain 1 (OMIM ID: 603247) 15q21.3 GPR1 (provisional) G protein-coupled receptor-1 (OMIM ID: 600239) 15q21.3-q23 ADAM10, MADM (provisional) A disintegrin and metalloprotease domain 10 (OMIM ID: 602192) 15q22 CA12 (provisional) Carbonic anhydrase XII (OMIM ID: 603263) 15q22 PKM2, PK3 (confirmed) Pyruvate kinase-3 (OMIM ID: 179050) 15q22 PML, MYL (confirmed) Promyelocytic leukemia, inducer of (OMIM ID: 102578) 15q22 SLC24A1, NCKX1 (provisional) Solute carrier family 24 (sodium/potassium/calcium exchanger), (OMIM ID: 603617) 15q22 SRP14 (provisional) Signal recognition particle 14kD (homologous Alu RNA-binding protein) (OMIM ID: 600708) 15q22 TLE3, ESG (confirmed) Transducin-like enhancer of split 3, homolog of Drosophila a E(spl) (OMIM ID: 600190) 15q22-q24 CYP1A1, CYP1 (provisional) Cytochrome P450, subfamily I, aromatic compound-inducible, (OMIM ID: 108330) 15q22-qter CYP1A2 (provisional) Cytochrome P450, subfamily I, aromatic compound-inducible, (OMIM ID: 124060) 15q22-qter MPI, PMI1 (confirmed) Mannosephosphate isomerase (phosphomannose isomerase 1) (OMIM ID: 154550) 15q22-qter NMB (confirmed) Neuromedin B (OMIM ID: 162340) 15q22.1 TPM1, CMH3 (confirmed) Tropomyosin 1 (alpha) (OMIM ID: 191010) 15q22.1-q22.33 PRKMK1, MKK1, MAPKK1, MEK1 (provisional) Protein kinase, mitogen-activated, kinase 1 (OMIM ID: 176872) 15q22.3-q23 BBS4 (confirmed) Bardet-Biedl syndrome 4 (OMIM ID: 600374) 15q22.3-q23 NEO1, NGN (confirmed) Neogenin (chicken) homolog 1 (OMIM ID: 601907) 15q22.3-q23 PHAP1 (provisional) Putative human HLA class II associated protein I (OMIM ID: 600832) 15q23 RCN2, ERC55 (confirmed) Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic (OMIM ID: 602584) 15q23-q24 CYP11A, P450SCC (confirmed) Cytochrome P450, subfamily XIA (cholesterol side chain cleavage (OMIM ID: 118485) 15q23-q24 HEXA, TSD (confirmed) Hexosaminidase A (alpha polypeptide) (OMIM ID: 272800) 15q23-q24 ISLR (provisional) Immunoglobulin superfamily containing leucine-rich repeat (OMIM ID: 602059) 15q23-q25 CSK (provisional) c-src tyrosine kinase (OMIM ID: 124095) 15q23-q25 ETFA, GA2 (provisional) Electron transfer flavoprotein, alpha polypeptide (OMIM ID: 231680) 15q23-q25 FAH (confirmed) Fumarylacetoacetase (OMIM ID: 276700) 15q24 CRABP1, RBP5 (confirmed) Cellular retinoic acid-binding protein-1 (OMIM ID: 180230) 15q24 CHRNA3 (confirmed) Cholinergic receptor, neuronal nicotinic, alpha polypeptide-3 (OMIM ID: 118503) 15q24 CHRNA5 (confirmed) Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5 (OMIM ID: 118505) 15q24 CHRNB4 (confirmed) Cholinergic receptor, neuronal nicotinic, beta polypeptide-4 (OMIM ID: 118509) 15q24 CLK3 (confirmed) CDC-like kinase 3 (OMIM ID: 602990) 15q24 ENFL2 (provisional) Epilepsy, nocturnal frontal lobe, type 2 (OMIM ID: 603204) 15q24 MRST (provisional) Mental retardation, severe, with spasticity and tapetoretinal (OMIM ID: 602685) 15q24-q25 CTSH (provisional) Cathepsin H (OMIM ID: 116820) 15q24-q25 LOXL1, LOXL (provisional) Lysyl oxidase-like 1 (OMIM ID: 153456) 15q24-q25 THBP1 (provisional) Thyroid hormone-binding protein, cytosolic (p58) (OMIM ID: 188555) 15q24.3 BCL2A1 (provisional) BCL2-related protein A1 (OMIM ID: 601056) 15q25 COX5A (provisional) Cytochrome C oxidase, subunit Va (OMIM ID: 603773) 15q25 MAN2A2, MANA2X (provisional) Manosidase, alpha-, type II, isozyme X (OMIM ID: 600988) 15q25 MFGE8 (provisional) Milk fat globule-EGF factor 8 (OMIM ID: 602281) 15q25 NTRK3, TRKC (confirmed) Neurotrophic tyrosine kinase, receptor, type 3 (OMIM ID: 191316) 15q25 POLG (provisional) Polymerase (DNA directed), gamma (OMIM ID: 174763) 15q25-q26 ANPEP, PEPN, CD13 (confirmed) Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, (OMIM ID: 151530) 15q25-q26 IGF1R (confirmed) Insulin-like growth factor-1 receptor (OMIM ID: 147370) 15q25-q26 PACE, FUR, PCSK3 (confirmed) Paired basic amino acid cleaving enzyme (furin membrane-associated (OMIM ID: 136950) 15q25.1-q25.2 IDH3A (provisional) Isocitrate dehydrogenase 3 (NAD+) alpha (OMIM ID: 601149) 15q26 ALDH6 (provisional) Aldehyde dehydrogenase-6 (OMIM ID: 600463) 15q26 CHD2 (provisional) Chromodomain helicase DNA binding protein-2 (OMIM ID: 602119) 15q26 CHRM5 (provisional) Cholinergic receptor, muscarinic, 5 (OMIM ID: 118496) 15q26 IDDM3 (confirmed) Insulin-dependent diabetes mellitus-3 (OMIM ID: 600318) 15q26 MEF2A (confirmed) MADS box transcription enhancer factor 2, polypeptide A (myocyte (OMIM ID: 600660) 15q26 PACE4, PCSK6 (confirmed) Paired basic amino acid cleaving system-4 (OMIM ID: 167405) 15q26 RLBP1 (provisional) Retinaldehyde-binding protein-1 (cellular) (OMIM ID: 180090) 15q26 STX (provisional) Sialyltransferase X (OMIM ID: 602546) 15q26.1 AGC1, CSPG1, MSK16 (confirmed) Aggrecan-1 (chondroitin sulfate proteoglycan-1, large aggregating (OMIM ID: 155760) 15q26.1 BLM, BS (confirmed) Bloom syndrome (OMIM ID: 210900) 15q26.1 FES (confirmed) Oncogene FES, feline sarcoma virus (OMIM ID: 190030) 15q26.1 IDH2 (confirmed) Isocitrate dehydrogenase, mitochondrial (OMIM ID: 147650) 15q26.1-q26.2 TFCOUP2, ARP1 (provisional) Transcription factor COUP 2 (chicken ovalbumin upstream promoter 2) (OMIM ID: 107773) 15q26.1-qter OTS (provisional) Otosclerosis (OMIM ID: 166800) C Chr.15 BNC (provisional) Basonuclin (OMIM ID: 601930) Chr.15 COL1AR (provisional) Collagen I, alpha, receptor (OMIM ID: 120340) Chr.15 EEF1B1 (provisional) Eukaryotic translation elongation factor-1, beta-1 (OMIM ID: 130591) Chr.15 GANC (provisional) Neutral alpha-glucosidase C (OMIM ID: 104180) Chr.15 GALK2, GK2 (provisional) Galactokinase-2 (OMIM ID: 137028) Chr.15 IQGAP1, SAR1 (provisional) RASGAP-like with IQ motifs (sar1, S. pombe, homolog of) (OMIM ID: 603379) Chr.15 IREB2 (provisional) Iron-responsive element-binding protein-2 (OMIM ID: 147582) 1 16pter-p13.3 HBAC@ (confirmed) ALPHA GLOBIN GENE CLUSTER (OMIM ID: ) 16pter-p13.3 HBA1 (confirmed) Hemoglobin alpha-1 (OMIM ID: 141800) 16pter-p13.3 HBA2 (confirmed) Hemoglobin alpha-2 (OMIM ID: 141850) 16pter-p13.3 HBQ1 (provisional) Hemoglobin theta-1 (OMIM ID: 142240) 16pter-p13.3 HBZ (provisional) Hemoglobin, zeta (OMIM ID: 142310) 16pter-p13.3 HBHR, ATR1 (confirmed) Alpha-thalassemia/mental retardation syndrome, type 1 (OMIM ID: 141750) 16pter-p13.3 MPG, MDG (provisional) N-methylpurine DNA glycosylase (OMIM ID: 156565) 16pter-p11 ZNF75A (provisional) Zinc finger protein-75A (OMIM ID: 601473) 16p13.3 ABC3 (provisional) ATP-binding cassette-3 (OMIM ID: 601615) 16p13.3 ADCY9 (provisional) Adenylate cyclase-9 (OMIM ID: 603302) 16p13.3 ATP6C (provisional) ATPase, H+ transporting, lysosomal, subunit C (OMIM ID: 108745) 16p13.3 CATM (provisional) Cataract, congenital, with microphthalmia (OMIM ID: 156850) 16p13.3 CCNF (provisional) Cyclin F (OMIM ID: 600227) 16p13.3 CREBBP, CBP, RSTS (confirmed) CREB binding protein (OMIM ID: 600140) 16p13.3 DCI (provisional) Dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A (OMIM ID: 600305) 16p13.3 CGTHBA (provisional) Conserved gene telomeric to alpha globin cluster (OMIM ID: 600928) 16p13.3 DNASE1, DNL1 (provisional) Deoxyribonuclease I (OMIM ID: 125505) 16p13.3 E4F1, E4F (confirmed) E4F transcription factor 1 (OMIM ID: 603022) 16p13.3 HMOX2 (provisional) Heme oxygenase, decycling, 2 (OMIM ID: 141251) 16p13.3 NDUFB10 (provisional) NADH-ubiquinone oxidoreductase 1 beta subcomplex, 10 (OMIM ID: 603843) 16p13.3 NME4 (provisional) Non-metastatic cells 4, protein expressed in (OMIM ID: 601818) 16p13.3 NTN2L (provisional) Netrin-2, chicken, homolog of, like (OMIM ID: 602349) 16p13.3 PGP (confirmed) Phosphoglycolate phosphatase (OMIM ID: 172280) 16p13.3 PKDTS (provisional) Polycystic kidney disease, infantile severe, with tuberous sclerosis (OMIM ID: 600273) 16p13.3 PRM1 (confirmed) Sperm protamine P1 (OMIM ID: 182880) 16p13.3 PRM2 (confirmed) Sperm protamine P2 (OMIM ID: 182890) 16p13.3 SOLH (provisional) Small optic lobes, drosophila, homolog of (OMIM ID: 603267) 16p13.3 SSTR5 (confirmed) Somatostatin receptor-5 (OMIM ID: 182455) 16p13.3 TNP2 (confirmed) Transition protein-2 (during histone to protamine replacement) (OMIM ID: 190232) 16p13.3 TSC2 (confirmed) Tuberous sclerosis-2 (tuberin) (OMIM ID: 191092) 16p13.3 UBE2I (confirmed) Ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9) (OMIM ID: 601661) 16p13.3 USP7, HAUSP (provisional) Ubiquitin-specific protease-7, herpes virus-associated (OMIM ID: 602519) 16p13.3 ZNF174 (provisional) Zinc finger protein-174 (OMIM ID: 603900) 16p13.3 ZNF205, ZNF210 (provisional) Zinc finger protein-205 (OMIM ID: 603436) 16p13.3-p13.2 CSNK2A2 (confirmed) Casein kinase-2, alpha-prime polypeptide (OMIM ID: 115442) 16p13.3-p13.2 NTHL1, OCTS3 (provisional) Endonuclease III, E. coli, homolog of (OMIM ID: 602656) 16p13.3-p13.2 PMM2, CDG1 (confirmed) Phosphomannomutase 2 (OMIM ID: 601785) 16p13.3-p13.13 ERCC4, XPF (confirmed) Excision-repair, complementing defective, in Chinese hamster, (OMIM ID: 133520) 16p13.3-p13.12 GFER, ERV1 (provisional) Growth factor, erv1-like (augmenter of liver regeneration; ERV1, (OMIM ID: 600924) 16p13.3-p13.12 PKD1 (confirmed) Polycystin-1 (OMIM ID: 601313) 16p13.3-p12 LITAF (provisional) LPS-induced TNFA factor (OMIM ID: 603795) 16p13.13 IMPDHL1 (provisional) Inosine monophosphate dehydrogenase-like 1 (OMIM ID: 146692) 16p13.13-p13.12 MYH11 (confirmed) Myosin, heavy polypeptide-11, smooth muscle (OMIM ID: 160745) 16p13.11 SAH (provisional) SA (rat hypertension-associated) homolog (OMIM ID: 145505) 16p13.11-p12.3 CRYM (provisional) Crystallin, mu (OMIM ID: 123740) 16p13.11-p12.3 UMOD (provisional) Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) (OMIM ID: 191845) 16p13.1 ARA (provisional) Anthracycline resistance-associated protein (OMIM ID: 603234) 16p13.1 GSPT1 (provisional) G1 to S phase transition-1 (OMIM ID: 139259) 16p13.1 MRP1, MRP (confirmed) Multidrug resistance-associated protein (OMIM ID: 158343) 16p13.1 PXE, PXE1 (confirmed) Pseudoxanthoma elasticum (OMIM ID: 264800) 16p13.1 TNFRSF17, BCMA (provisional) Tumor necrosis factor receptor superfamily, member 17 (OMIM ID: 109545) 16p13.1-p12 CDR2 (provisional) Cerebellar degeneration-related antigen-2 (62kD) (OMIM ID: 117340) 16p13.1-p12 PLA2G10, SPLA2, GXSPLA2 (provisional) Phospholipase A2, group X (OMIM ID: 603603) 16p13 GRIN2A, NMDAR2A (provisional) Glutamate receptor, ionotropic, N-methyl D-aspartate 2A (OMIM ID: 138253) 16p13 CLCN7, CLC7 (provisional) Chloride channel-7 (OMIM ID: 602727) 16p13 HAGH, GLO2 (confirmed) Hydroxyacyl glutathione hydrolase; glyoxalase II (OMIM ID: 138760) 16p13 MEFV, MEF, FMF (confirmed) Mediterranean fever, familial (marenostrin) (OMIM ID: 249100) 16p13 MHC2TA, C2TA (provisional) MHC class II transactivator (OMIM ID: 600005) 16p13 OR1F1, OLFMF (provisional) Olfactory receptor, family 1, subfamily F, member 1 (OMIM ID: 603232) 16p13 PPL (provisional) Periplakin (OMIM ID: 602871) 16p13 SNN (confirmed) Stannin (OMIM ID: 603032) 16p13 ZNF200 (provisional) Zinc finger protein-200 (OMIM ID: 603231) 16p13-p12 SCNN1B (confirmed) Sodium channel, nonvoltage-gated 1, beta (OMIM ID: 600760) 16p13-p12 SCNN1G, PHA1 (confirmed) Sodium channel, nonvoltage-gated 1, gamma (OMIM ID: 600761) 16p13 TFAP4 (tentative) Transcription factor AP-4 (activating enhancer-binding protein 4) (OMIM ID: 600743) 16p12.3-p12.1 NDUFAB1 (provisional) NADH-ubiquinone oxidoreductase 1, alpha/beta subcomplex, 1 (OMIM ID: 603836) 16p12.3-p12.1 RP22 (provisional) Retinitis pigmentosa-22 (OMIM ID: 602594) 16p12.1 CLN3, BTS (confirmed) Ceroid-lipofuscinosis, neuronal-3, juvenile (Batten disease) (OMIM ID: 204200) 16p12.1-p11.2 IL4R, IL4RA (provisional) Interleukin-4 receptor (OMIM ID: 147781) 16p12.1-p11.2 PHKG2 (provisional) Phosphorylase kinase, gamma 2 (testis/liver) (OMIM ID: 172471) 16p12.1-p11.2 STP1, STP, PST (provisional) Sulfotransferase, phenol-preferring 1 (OMIM ID: 171150) 16p12.1-p11.2 STP2 (confirmed) Sulfotransferase, phenol-preferring 2 (OMIM ID: 601292) 16p12 ATP2A1, SERCA1 (confirmed) ATPase, Ca++ transporting, fast-twitch, 1 (OMIM ID: 108730) 16p12 MCKD2, ADMCKD2 (provisional) Medullary cystic kidney disease 2, autosomal dominant (OMIM ID: 603860) 16p12 UQCRC2 (provisional) Ubiquinol-cytochrome c reductase core protein II (OMIM ID: 191329) 16p12-p11.2 RBBP6 (provisional) Retinoblastoma-binding protein-6 (OMIM ID: 600938) 16p12-p11 PPP4C, PP4, PPX (provisional) Protein phosphatase 4, catalytic subunit (OMIM ID: 602035) 16p12-q12 ICCA (provisional) Infantile convulsions and paroxysmal choreoathetosis (OMIM ID: 602066) 16p12-q13 IBD1 (provisional) Inflammatory bowel disease-1 (Crohn disease) (OMIM ID: 266600) 16p12-q21 ACUG, BLAU (provisional) Arthrocutaneouveal granulomatosis (Blau syndrome) (OMIM ID: 186580) 16p11.2 CD19 (provisional) CD19 antigen (OMIM ID: 107265) 16p11.2 FUS (confirmed) Fusion gene in myxoid liposarcoma (OMIM ID: 137070) 16p11.2 ITGAD, CD11D (provisional) Integrin, alpha D (OMIM ID: 602453) 16p11.2 ITGAL, CD11A, LFA1A (confirmed) Integrin, alpha-L (antigen CD11A (p180), lymphocyte (OMIM ID: 153370) 16p11.2 ITGAM, CR3A, CD11B, MAC1A (confirmed) Integrin, alpha-M (complement component receptor-3, alpha; antigen (OMIM ID: 120980) 16p11.2 ITGAX, CD11C (provisional) Integrin, alpha-X (antigen CD11C (p150), alpha polypeptide) (OMIM ID: 151510) 16p11.2 KNSL4, KID, OBP (confirmed) Kinesin-like 4 (OMIM ID: 603213) 16p11.2 MAZ, ZF87, PUR1 (confirmed) MYC-associated zince finger protein (OMIM ID: 600999) 16p11.2 PRKCB1, PKCB (provisional) Protein kinase C, beta 1 polypeptide (OMIM ID: 176970) 16p11.2 PRKM3, ERK1 (provisional) Protein kinase, mitogen-activated 3 (MAP kinase 3; p44) (OMIM ID: 601795) 16p11.2 PRSS8 (provisional) Protease, serine, 8 (prostasin) (OMIM ID: 600823) 16p11.2 SLC5A2, SGLT2 (provisional) Solute carrier family 5 (sodium/glucose cotransporter), member 2 (OMIM ID: 182381) 16p11.2 SLC6A10, CT2 (confirmed) Solute carrier family 6 (neurotransmitter transporter, creatine), (OMIM ID: 601294) 16p11.2 SPN, LSN, CD43 (confirmed) Sialophorin (leukosialin) (OMIM ID: 182160) 16p11.2 STM (confirmed) Sulfotransferase, monoamine-preferring (OMIM ID: 600641) 16p11.2 STX1B (provisional) Syntaxin 1B (OMIM ID: 601485) 16p11.2 TBX6 (provisional) T-box 6 (OMIM ID: 602427) 16p11.2 TUFM, EFTU (confirmed) Tu translation elongation factor, mitochondrial (OMIM ID: 602389) 16p11 ZNF44, KOX7 (provisional) Zinc finger protein-44 (KOX7) (OMIM ID: 194542) 16q CMAR, CAR (provisional) Cell matrix adhesion regulator (OMIM ID: 116935) 16q SCYD1, NTT, NTN (confirmed) Small inducible cytokine subfamily D (Cys-X3-Cys), member-1 (OMIM ID: 601880) 16q WT3 (provisional) Wilms tumor-3 (OMIM ID: 194090) 16q12 SIAH1 (confirmed) Seven in absentia, Drosophila, homolog 1 (OMIM ID: 602212) 16q12-q13 ADCY7 (provisional) Adenylate cyclase-7 (OMIM ID: 600385) 16q12-q13 CYLD1, CDMT, EAC (provisional) Cylindromatosis 1, turban tumor syndrome (OMIM ID: 132700) 16q12-q13.1 PHKB (confirmed) Phosphorylase kinase, beta polypeptide (OMIM ID: 172490) 16q12.1 ADAM3B, CYRN2 (provisional) A disintegrin and metalloproteinase domain 3b (cyritestin 2) (OMIM ID: 602073) 16q12.1 HYD2 (provisional) Hypodontia, autosomal recessive (OMIM ID: 602639) 16q12.1 SALL1, HSAL1, TBS (provisional) Sal-like 1 (OMIM ID: 602218) 16q12.2 SLC6A2, NAT1, NET1 (confirmed) Solute carrier family 6 (neurotransmitter transporter, noradrenalin), (OMIM ID: 163970) 16q12.2 RBL2 (provisional) Retinoblastoma-like 2 (OMIM ID: 180203) 16q13 CNGB1, CNCG3L, CNCG2 (provisional) Cyclic nucleotide gated channel, beta 1 (OMIM ID: 600724) 16q13 GNAO1 (provisional) Guanine nucleotide-binding protein (G protein), alpha-activating (OMIM ID: 139311) 16q13 MMP2, CLG4A (confirmed) Matrix metalloproteinase 2 (gelatinase A, 72kD type IV collagenase) (OMIM ID: 120360) 16q13 MT1A (confirmed) Metallothionein 1A (functional) (OMIM ID: 156350) 16q13 MT1B (confirmed) Metallothionein 1B (functional) (OMIM ID: 156349) 16q13 MT1E (confirmed) Metallothionein 1E (functional) (OMIM ID: 156351) 16q13 MT1F (confirmed) Metallothionein 1F (functional) (OMIM ID: 156352) 16q13 MT1G (confirmed) Metallothionein 1G (OMIM ID: 156353) 16q13 MT1H (confirmed) Metallothionein 1H (OMIM ID: 156354) 16q13 MT1I (confirmed) Metallothionein 1I (OMIM ID: 156355) 16q13 MT1J (confirmed) Metallothionein 1J (OMIM ID: 156356) 16q13 MT1K (confirmed) Metallothionein 1K (OMIM ID: 156357) 16q13 MT1L (confirmed) Metallothionein 1L (OMIM ID: 156358) 16q13 MT1X (confirmed) Metallothionein 1X (OMIM ID: 156359) 16q13 MT2A, MT2 (confirmed) Metallothionein 2A (OMIM ID: 156360) 16q13 MT3, GIFB (confirmed) Metallothionein 3 (growth inhibitory factor (neurotrophic)) (OMIM ID: 139255) 16q13 SCYA17, TARC (provisional) Small inducible cytokine subfamily A, member 17 (OMIM ID: 601520) 16q13 SCYA22 (confirmed) Small inducible cytokine, subfamily A, member 22 (OMIM ID: 602957) 16q13 SLC12A3, NCCT, TSC (confirmed) Solute carrier family 12 (sodium/potassium/chloride transporters), (OMIM ID: 600968) 16q13-q21 MMP15 (confirmed) Matrix metalloproteinase 15 (OMIM ID: 602261) 16q13-q21 POLR2C (provisional) Polymerase (RNA) II (DNA directed) polypeptide C (33kD) (OMIM ID: 180663) 16q13-q22.1 CES1, SES1 (provisional) Carboxylesterase 1 (monocyte/macrophage serine esterase 1) (OMIM ID: 114835) 16q21 AMFR, GP78 (provisional) Autocrine motility factor receptor (OMIM ID: 603243) 16q21 BBS2 (confirmed) Bardet-Biedl syndrome 2 (OMIM ID: 209900) 16q21 CETP (provisional) Cholesteryl ester transfer protein, plasma (OMIM ID: 118470) 16q21 GOT2 (confirmed) Glutamic-oxaloacetic transaminase-2, mitochondrial (EC 2.6.1.1) (OMIM ID: 138150) 16q21 HSF4 (provisional) Heat-shock transcription factor 4 (OMIM ID: 602438) 16q21-q22 CDH16 (provisional) Cadherin-16 (OMIM ID: 603118) 16q21-q22.1 CDH8 (provisional) Cadherin-8 (OMIM ID: 603008) 16q21-q22.1 CDH11, CAD11 (provisional) Cadherin-11 (OB-cadherin, osteoblast) (OMIM ID: 600023) 16q21-q23 CA7 (provisional) Carbonic anhydrase VII (OMIM ID: 114770) 16q22 AARS (provisional) Alanyl-tRNA synthetase (OMIM ID: 601065) 16q22 AGRP, ART, AGRT (provisional) Agouti-related transcript, mouse, homolog of (OMIM ID: 602311) 16q22 APPBP1 (provisional) Amyloid beta precursor protein-binding protein-1 (OMIM ID: 603385) 16q22 CBFB (confirmed) Core-binding factor, beta subunit (OMIM ID: 121360) 16q22 HSD11B2, HSD11K (confirmed) Hydroxysteroid (11-beta) dehydrogenase 2 (OMIM ID: 218030) 16q22 MCDC1 (provisional) Macular dystrophy, corneal, 1 (OMIM ID: 217800) 16q22 RRAD (provisional) Ras-related associated with diabetes (OMIM ID: 179503) 16q22 TRADD (tentative) TNRF1-associated death domain protein (OMIM ID: 603500) 16q22 ZNF19, KOX12 (provisional) Zinc finger protein-19 (KOX12) (OMIM ID: 194525) 16q22 ZNF23, KOX16 (provisional) Zinc finger protein-32 (KOX16) (OMIM ID: 194527) 16q22-q23 GLG1 (provisional) Golgi apparatus protein 1 (OMIM ID: 600753) 16q22-q23 MAF (provisional) Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene (OMIM ID: 177075) 16q22-q23 SNT2B2 (confirmed) Syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic (OMIM ID: 601018) 16q22-q24 ALDOA (confirmed) Aldolase A, fructose-bisphosphatase (OMIM ID: 103850) 16q22-q24 FKHL14, MFH1 (provisional) Forkhead, drosophila, homolog-lik3 14 (OMIM ID: 602402) 16q22-qter COX4 (provisional) Cytochrome c oxidase, subunit IV (OMIM ID: 123864) 16q22.1 CALB2 (provisional) Calbindin 2, 29kD (calretinin) (OMIM ID: 114051) 16q22.1 CDH1, UVO (confirmed) Cadherin-1 (E-cadherin, uvomorulin) (OMIM ID: 192090) 16q22.1 CDH3, CDHP, PCAD (provisional) Cadherin-3 (P-cadherin) (OMIM ID: 114021) 16q22.1 CDH5 (provisional) Cadherin-5 (OMIM ID: 601120) 16q22.1 CTM (confirmed) Cataract, Marner type (OMIM ID: 116800) 16q22.1 CTRL (provisional) Chymotrypsin-like protease (OMIM ID: 118888) 16q22.1 DIA4, NMOR1 (confirmed) Diaphorase-4 (OMIM ID: 125860) 16q22.1 E2F4 (provisional) E2F transcription factor 4, p107/p130-binding (OMIM ID: 600659) 16q22.1 HAS3 (provisional) Hyaluronan synthase 3 (OMIM ID: 602428) 16q22.1 HP (confirmed) Haptoglobin (OMIM ID: 140100) 16q22.1 HPR (confirmed) Haptoglobin-related locus (OMIM ID: 140210) 16q22.1 LCAT (confirmed) Lecithin-cholesterol acyltransferase (OMIM ID: 245900) 16q22.1 MECL1, LMP10, PSMB10 (provisional) Proteosome subunit MECL1 (OMIM ID: 176847) 16q22.1 PSKH1 (provisional) Putative serine kinase H1 (OMIM ID: 177015) 16q22.1 SCA4 (provisional) Spinocerebellar ataxia 4 (OMIM ID: 600223) 16q22.1 SLC9A5, NHE5 (provisional) Solute carrier family 9 (sodium/hydrogen exchanger), isoform 5 (OMIM ID: 600477) 16q22.1 TERF2, TRF2 (provisional) Telomeric repeat-binding factor-2 (OMIM ID: 602027) 16q22.1-q22.3 TAT (confirmed) Tyrosine aminotransferase, cytosolic (OMIM ID: 276600) 16q22.3-q23.1 ATBF1 (provisional) AT motif-binding factor 1 (OMIM ID: 104155) 16q23 ADTG, CLAPG1 (provisional) Adaptin, gamma (OMIM ID: 603533) 16q23-q24 DHS (provisional) Dehydrated hereditary stomatocytosis (OMIM ID: 194380) 16q23-q24 KARS (provisional) Lysyl-tRNA synthetase (OMIM ID: 601421) 16q23-q24 PSMD7, MOV34 (provisional) Proteasome 25S subunit, non-ATPase, 7 (Moloney leukemia virus-34 (OMIM ID: 157970) 16q23.2-q23.3 CTRB1 (confirmed) Chymotrypsinogen B1 (OMIM ID: 118890) 16q24 AFG3L1, AFG3 (provisional) ATPase family gene 3, yeast, homolog of (OMIM ID: 603020) 16q24 APRT (confirmed) Adenine phosphoribosyltransferase (OMIM ID: 102600) 16q24 CBFA2T3, MTGR2, MTG16 (confirmed) Core-binding factor, alpha subunit 2, translocated to, 3 (OMIM ID: 603870) 16q24 CDK10, PISSLRE (provisional) Cyclin-dependent kinase 10 (OMIM ID: 603464) 16q24 CYBA (confirmed) Cytochrome b-245, alpha polypeptide (OMIM ID: 233690) 16q24 FKHL5 (provisional) Forkhead, drosophila, homolog-like 5 (OMIM ID: 601089) 16q24.1 GAN, GAN1 (confirmed) Giant axonal neuropathy-1 (OMIM ID: 256850) 16q24.1 PLCG2 (provisional) Phospholipase C, gamma 2 (phosphatidylyinositol-specific) (OMIM ID: 600220) 16q24.1-q24.2 HSD17B2, EDH17B2 (confirmed) Hydroxysteroid (17-beta) dehydrogenase 2 (OMIM ID: 109685) 16q24.2-q24.3 CDH13, CDHH (provisional) Cadherin-13 (H-cadherin, heart) (OMIM ID: 601364) 16q24.3 CA5 (confirmed) Carbonic anhydrase V (mitochondrial) (OMIM ID: 114761) 16q24.3 CDH15, CDH14, CDH3 (provisional) Cadherin-15, M-cadherin (myotubule) (OMIM ID: 114019) 16q24.3 DPEP1, RDP (confirmed) Dipeptidase-1, renal (OMIM ID: 179780) 16q24.3 FANCA, FACA, FA1, FA, FAA (confirmed) Fanconi anemia, complementation group A (OMIM ID: 227650) 16q24.3 GALNS, MPS4A (confirmed) Galactosamine (N-acetyl)-6-sulfate sulfatase (OMIM ID: 253000) 16q24.3 MC1R (confirmed) Melanocortin-1 receptor (alpha melanocyte-stimulating hormone (OMIM ID: 155555) 16q24.3 PGN, SPG7 (provisional) Paraplegin (OMIM ID: 602783) 16q24.3 SLC7A5, D16S469E, MPE16 (provisional) Solute carrier family 7, member 5 (OMIM ID: 600182) C Chr.16 CTH (provisional) Cystathionase (OMIM ID: 219500) Chr.16 ESB3 (provisional) Esterase-B3 (OMIM ID: 133290) Chr.16 GCF2 (provisional) Growth rate controlling factor-2 (OMIM ID: 139230) Chr.16 GFER, ALR, HERV1 (provisional) Growth factor, erv1 (S. cerevisiae)-like (augmenter of liver (OMIM ID: 600924) Chr.16 GRLL1 (provisional) Glucocorticoid receptor-like 1 (OMIM ID: 138060) Chr.16 IFNR (provisional) Interferon production regulator (OMIM ID: 147573) Chr.16 LIPB (provisional) Lipase B, lysosomal acid (OMIM ID: 247980) Chr.16 NHCP1 (provisional) Nonhistone chromosomal protein-1 (OMIM ID: 118870) Chr.16 RHBDL, RRP (provisional) Rhomboid, drosophila, homolog of (OMIM ID: 603264) Chr.16 SNTL, EST25263, D16S2531E (provisional) Syntrophin-like (OMIM ID: 600027) Chr.16 TK2 (provisional) Thymidine kinase, mitochondrial (OMIM ID: 188250) Chr.16 TRG1 (provisional) tRNA glycine-GCC-1 (OMIM ID: 189911) Chr.16 TPS1 (provisional) Tryptase, alpha (OMIM ID: 191080) Chr.16 TPS2 (provisional) Tryptase, beta (OMIM ID: 191081) Chr.16 VDI, DIPI (provisional) Vesicular stomatitis virus defective interfering (OMIM ID: 125260) 1 17pter-p13.1 ALOX12B (provisional) Archidonate 12-lipoxygenase, R type (OMIM ID: 603741) 17pter-p13 ASPA (provisional) Aspartoacylase (aminoacylase-2) (OMIM ID: 271900) 17pter-p12 ENO3 (confirmed) Enolase-3, beta, muscle (OMIM ID: 131370) 17pter-p12 GP1BA (provisional) Glycoprotein Ib, platelet, alpha polypeptide (OMIM ID: 231200) 17pter-p12 PLI (provisional) Alpha-2-plasmin inhibitor (OMIM ID: 262850) 17pter-p12 VAMP2, SYB2 (provisional) Vesicle-associated membrane protein-2 (synaptobrevin-2) (OMIM ID: 185881) 17pter-p12 ZFP3 (provisional) Zinc finger protein-3 (OMIM ID: 194480) 17p13.3 ABR (confirmed) Active BCR-related gene (OMIM ID: 600365) 17p13.3 ALOX15 (provisional) Arachidonate 15-lipoxygenase (OMIM ID: 152392) 17p13.3 ATP2A3, SERCA3 (provisional) ATPase, Ca(2+)-transporting, ubiquitous (OMIM ID: 601929) 17p13.3 BCPR (provisional) Breast cancer-related regulator of TP53 (OMIM ID: 113721) 17p13.3 C1QBP, HABP1 (confirmed) Complement component C1q binding protein (hyaluronic acid-binding (OMIM ID: 601269) 17p13.3 CRK (provisional) Avian sarcoma virus CT10 (v-crk) oncogene homolog (OMIM ID: 164762) 17p13.3 DPH2L1, OVCA1 (provisional) Diphthamide biosynthesis protein 2, S. cerevisiae, homolog-like 1 (OMIM ID: 603527) 17p13.3 GLP2R (provisional) Glucagon-like peptide 2 receptor (OMIM ID: 603659) 17p13.3 HIC1 (provisional) Hypermethylated in cancer (OMIM ID: 603825) 17p13.3 MDCR, MDS (confirmed) Miller-Dieker syndrome chromosome region (OMIM ID: 247200) 17p13.3 MNT, ROX (provisional) MAX-binding protein (OMIM ID: 603039) 17p13.3 OR1D2, OLFR1 (confirmed) Olfactory receptor, family 1, subfamily D, member 2 (OMIM ID: 164342) 17p13.3 PAFAH1B1, LIS1 (confirmed) Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit (OMIM ID: 601545) 17p13.3 PEDF (confirmed) Pigment epithelium-derived factor (OMIM ID: 172860) 17p13.3 PFN1 (provisional) Profilin-1 (OMIM ID: 176610) 17p13.3 PITPN (provisional) Phosphotidylinositol transfer protein (OMIM ID: 600174) 17p13.3 RP13 (confirmed) Retinitis pigmentosa-13 (OMIM ID: 600059) 17p13.3 RPA1 (provisional) Replication protein A1 (70kD) (OMIM ID: 179835) 17p13.3 TNFSF12, TWEAK, APO3L, DR3LG (confirmed) Tumor necrosis factor ligand superfamily, member 12 (OMIM ID: 602695) 17p13.105-p13.100 TRK1 (confirmed) tRNA lysine-1 (OMIM ID: 189918) 17p13.105-p13.100 TRL2 (confirmed) tRNA leucine-2 (OMIM ID: 189920) 17p13.105-p13.100 TRQ1 (confirmed) tRNA glutamine-1 (OMIM ID: 189919) 17p13.1 ALOX12 (confirmed) Arachidonate 12-lipoxygenase (OMIM ID: 152391) 17p13.1 MYH1 (confirmed) Myosin, heavy polypeptide-1, skeletal muscle, adult (OMIM ID: 160730) 17p13.1 MYH2 (confirmed) Myosin, heavy polypeptide-2, skeletal muscle, adult (OMIM ID: 160740) 17p13.1 MYH3 (confirmed) Myosin, heavy polypeptide-3, skeletal muscle, embryonic (OMIM ID: 160720) 17p13.1 MYH4 (provisional) Myosin, heavy polypeptide-4, skeletal muscle (OMIM ID: 160742) 17p13.1 MYH8 (provisional) Myosin, heavy polypeptide-8, skeletal muscle, perinatal (OMIM ID: 160741) 17p13.1 POLR2A, RPOL2 (confirmed) Polymerase (RNA) II (DNA directed) polypeptide A (220kD) (OMIM ID: 180660) 17p13.1 RCV1 (confirmed) Recoverin (OMIM ID: 179618) 17p13.1 TP53 (confirmed) Tumor protein p53 (OMIM ID: 191170) 17p13.1-p12 MDB (provisional) Medulloblastoma (OMIM ID: 155255) 17p13.1-p12 MYH13 (provisional) Myosin, heavy polypeptide 13, skeletal muscle (OMIM ID: 603487) 17p13.1-p11.2 EFNB3, EPLG8, LERK8, EFL6 (provisional) Ephrin B3 (OMIM ID: 602297) 17p13.1-q25 NOS2B (provisional) Nitric oxide synthase 2B (OMIM ID: 600719) 17p13.1-q25 NOS2C (provisional) Nitric oxide synthase 2C (OMIM ID: 600720) 17p13 ARRB2 (provisional) Arrestin, beta 2 (OMIM ID: 107941) 17p13 CD68 (provisional) Macrophage antigen CD68 (microsialin) (OMIM ID: 153634) 17p13 CHD3 (provisional) Chromodomain helicase DNA binding protein-3 (OMIM ID: 602120) 17p13 CTAA2 (provisional) Cataract, anterior polar, 2 (OMIM ID: 601202) 17p13 CTNS (confirmed) Cystinosis (OMIM ID: 219800) 17p13 EIF4A1, DDX2A (provisional) Eukaryotic translation initiation factor 4A, isoform 1 (OMIM ID: 602641) 17p13 GUCY2D, GUC2D, LCA1, CORD6 (confirmed) Guanylate cyclase 2D, membrane, retina-specific (OMIM ID: 600179) 17p13 MGI, FIMG (provisional) Myasthenia gravis, familial infantile (OMIM ID: 254210) 17p13 MYH10 (provisional) Myosin, heavy polypeptide-10, non-muscle (OMIM ID: 160776) 17p13 NUP88 (provisional) Nucleoporin, 88-kD (OMIM ID: 602552) 17p13 SLC2A4, GLUT4 (provisional) Solute carrier family 2 (facilitated glucose transporter), member 4 (OMIM ID: 138190) 17p13 SOX20 (provisional) SRY (sex-determining region Y)-box 20 (OMIM ID: 601297) 17p13-p11 ASGR1 (provisional) Asialoglycoprotein receptor-1 (OMIM ID: 108360) 17p13-p12 CORD5 (confirmed) Cone rod dystrophy 5 (OMIM ID: 600977) 17p13-p12 DRG2 (provisional) Developmentally regulated GTP-binding protein 2 (OMIM ID: 602986) 17p13-p12 EIF5A (provisional) Eukaryotic translation initiation factor-5A (OMIM ID: 600187) 17p13-p12 SHBG, ABP (provisional) Sex hormone-binding globulin (androgen binding protein) (OMIM ID: 182205) 17p13-p12 ZNF18, KOX11 (confirmed) Zinc finger protein-18 (KOX11) (OMIM ID: 194524) 17p13-p12 ZNF29 (provisional) Zinc finger protein-29 (KOX26) (OMIM ID: 194535) 17p12 BRKS, TLH1 (provisional) Telopeptide lysyl hydroxylase, bone-specific (OMIM ID: 259450) 17p12 PER, RIGUI (provisional) Period, drosophila, homolog of (OMIM ID: 602260) 17p12-p11.2 ADORA2B (provisional) Adenosine A2b receptor (OMIM ID: 600446) 17p12-p11.2 COX10 (confirmed) Cytochrome c oxidase, subunit X (OMIM ID: 602125) 17p12-p11.2 LLGL1, DLG4 (confirmed) Lethal giant larvae (Drosophila), human homolog of, 1 (OMIM ID: 600966) 17p12-p11.2 PRPSAP2, PAP41 (provisional) Phosphoribosylpyrophosphate synthetase-associated protein 2 (OMIM ID: 603762) 17p12-p11.2 TOP3A (provisional) Topoisomerase (DNA) III, alpha (OMIM ID: 601243) 17p12-p11.1 UBB (provisional) Ubiquitin B (OMIM ID: 191339) 17p12-p11 CHRNB1, ACHRB (confirmed) Cholinergic receptor, nicotinic, beta polypeptide-1 (muscle) (OMIM ID: 100710) 17p11.2 ALDH3 (confirmed) Aldehyde dehydrogenase-3 (OMIM ID: 100660) 17p11.2 ALDH10, SLS, FALDH (confirmed) Aldehyde dehydrogenase-10 (fatty aldehyde dehydrogenase) (OMIM ID: 270200) 17p11.2 FLII (provisional) Flightless-I, Drosophila, homolog of (OMIM ID: 600362) 17p11.2 MFAP4 (provisional) Microfibrillar-associated protein-4 (OMIM ID: 600596) 17p11.2 MYO15, DFNB3 (confirmed) Myosin XV (OMIM ID: 602666) 17p11.2 PMP22, CMT1A (confirmed) Peripheral myelin protein-22 (OMIM ID: 601097) 17p11.2 PRKM7, ERK5 (provisional) Protein kinase, mitogen-activated 7 (extracellular signal-regulated (OMIM ID: 602521) 17p11.2 RNU3 (provisional) RNA, U3 small nuclear (OMIM ID: 180710) 17p11.2 SERK1, PRKMK4, MAPKK4, JNKK1 (provisional) SAPK/ERK kinase-1 (OMIM ID: 601335) 17p11.2 SHMT1 (confirmed) Serine hydroxymethyltransferase (soluble) (OMIM ID: 182144) 17p11.2 SMCR (confirmed) Smith-Magenis syndrome chromosome region (OMIM ID: 182290) 17p11.2 SREBF1 (provisional) Sterol regulatory element binding transcription factor 1 (OMIM ID: 184756) 17p11.2 ZNF179, BFP (provisional) Zinc finger protein-179 (OMIM ID: 601237) 17p11.2-p11.13 ACADVL, VLCAD (confirmed) Acyl-Coenzyme A dehydrogenase, very long chain (OMIM ID: 201475) 17p11.2-p11.1 KCNJN1 (provisional) Potassium inwardly-rectifying channel, subfamily J, inhibitor-1 (OMIM ID: 602604) 17p11.2-p11.1 KCNJ12 (confirmed) Potassium inwardly-rectifying channel, subfamily J, member-12 (OMIM ID: 602323) 17p11.1-q11.1 CPD (provisional) Carboxypeptidase D (OMIM ID: 603102) 17p ASGR2 (tentative) Asialoglycoprotein receptor-2 (OMIM ID: 108361) 17p ATP1B2, AMOG (provisional) ATPase, Na+K+ transporting, beta-2 polypeptide (OMIM ID: 182331) 17p CACD (provisional) Choroidal dystrophy, central areolar (OMIM ID: 215500) 17p GAS7 (provisional) Growth arrest-specific 7 (OMIM ID: 603127) 17p RCD2 (provisional) Retinal cone dystrophy-2 (OMIM ID: 601251) 17p RPL26 (provisional) Ribosomal protein L26 (OMIM ID: 603704) 17cen-q11.2 NOS2A, NOS2 (confirmed) Nitric oxide synthase 2A, inducible, hepatocytes (OMIM ID: 163730) 17cen-q12 ALDOC (confirmed) Aldolase C, fructose-bisphosphatase (OMIM ID: 103870) 17cen-q21.3 TCF2, HNF2 (confirmed) Transcription factor-2, hepatic; LF-B3; variant hepatic nuclear factor (OMIM ID: 189907) 17q HAP2, HAP1, HLP (tentative) Huntingtin-associated protein 2 (neuroan 1) (OMIM ID: 600947) 17q HYT1 (provisional) Hypertension, essential, susceptibility to, 1 (OMIM ID: Fd) 17q PTLAH, FPAH (provisional) Patella aplasia or hypoplasia (OMIM ID: 168860) 17q RPS17L2, RPS17B (provisional) Ribosomal protein S17B-like-2 (OMIM ID: 180462) 17q PSORS2, PSS1 (provisional) Psoriasis susceptibility 2 (OMIM ID: 602723) 17q RAD51C (provisional) RAD51, S. cerevisiae, homolog of, C (OMIM ID: 602774) 17q11 RAD51L3, RAD51D (provisional) RAD51, S. cerevisiae, homolog of, D (OMIM ID: 602954) 17q11 RPL19 (confirmed) Ribosomal protein L19 (OMIM ID: 180466) 17q11 RPL23A (provisional) Ribosomal protein L23a (OMIM ID: 602326) 17q11 VTN, VNT (provisional) Vitronectin (serum spreading factor, somatomedin B, complement (OMIM ID: 193190) 17q11-q12 CCZS (provisional) Cataract, congenital, zonular, with sutural opacities (OMIM ID: 600881) 17q11-q12 FLOT2, M17S1, ECS1, ESA1 (confirmed) Flotillin 2 (epidermal surface antigen 1) (OMIM ID: 131560) 17q11-q12 LGMD2G (provisional) Limb girdle muscular dystrophy 2G (autosomal recessive) (OMIM ID: 601954) 17q11-q21 SCYA3 (confirmed) Small inducible cytokine A3 (OMIM ID: 182283) 17q11-q21 TCP228 (provisional) T-cell specific protein p288 (OMIM ID: 187010) 17q11-q23 TTC2, TPR2 (provisional) Tetratricopeptide repeat domain 2 (OMIM ID: 601964) 17q11-qter CLTC (provisional) Clathrin, heavy polypeptide (Hc) (OMIM ID: 118955) 17q11-qter CYB561 (provisional) Cytochrome b-561 (OMIM ID: 600019) 17q11-qter ITGB4 (provisional) Integrin, beta-4 (OMIM ID: 147557) 17q11.1-q11.2 TAF2N, RBP56 (provisional) TATA box-binding protein-associated factor 2N (RNA-binding protein 56) (OMIM ID: 601574) 17q11.1-q12 CRYBA1, CRYB1 (confirmed) Crystallin, beta A1 (OMIM ID: 123610) 17q11.1-q12 SLC6A4, HTT (confirmed) Solute carrier family 6 (neurotransmitter transporter, serotonin), (OMIM ID: 182138) 17q11.2 BLMH, BMH (provisional) Bleomycin hydrolase (OMIM ID: 602403) 17q11.2 EVI2A, EVI2, EVDA (confirmed) Ecotropic viral integration site 2A (OMIM ID: 158380) 17q11.2 EVI2B, EVDB (confirmed) Ecotropic viral integration site 2B (OMIM ID: 158381) 17q11.2 NF1, VRNF, WSS (confirmed) Neurofibromin (neurofibromatosis, type I) (OMIM ID: 162200) 17q11.2 NR1D1, THRAL, EAR1 (provisional) Nuclear receptor 1, subfamily D, member 1 (thyroid hormone receptor, (OMIM ID: 602408) 17q11.2 OMG, OMGP (confirmed) Oligodendrocyte-myelin glycoprotein (OMIM ID: 164345) 17q11.2 PRKMK3, MAPKK3, MEK3 (provisional) Protein kinase, mitogen-activated, kinase-3 (OMIM ID: 602315) 17q11.2 SCYA3L1, LD78 (provisional) Small inducible cytokine A3-like 1 (OMIM ID: 601395) 17q11.2 SCYA4L (confirmed) Small inducible cytokine A4-like (OMIM ID: 603782) 17q11.2 SCYA8 (provisional) Small inducible cytokine subfamily A (Cys-Cys), member 8 (OMIM ID: 602283) 17q11.2 SCYA13, NCC1 (provisional) Small inducible cytokine subfamily A (Cys-Cys), member 13 (OMIM ID: 601391) 17q11.2 SCYA14, NCC2 (provisional) Small inducible cytokine subfamily A (Cys-Cys), member 14 (OMIM ID: 601392) 17q11.2 SCYA15, NCC3, LKN1 (confirmed) Small inducible cytokine subfamily A (Cys-Cys), member 15 (OMIM ID: 601393) 17q11.2 SCYA16, NCC4 (provisional) Small inducible cytokine subfamily A (Cys-Cys), member 16 (OMIM ID: 601394) 17q11.2 SCYA18, PARC, AMAC1, DCCK1 (provisional) Small inducible cytokine subfamily A, member 18 (OMIM ID: 603757) 17q11.2 SDF2 (provisional) Stromal cell-derived factor-2 (OMIM ID: 602934) 17q11.2 SUPT6H (provisional) Suppressor of Ty (S.cerevisiae) 6 homolog (OMIM ID: 601333) 17q11.2 THRA, ERBA1, THRA1 (confirmed) Thyroid hormone receptor, alpha (oncogene ERBA1) (OMIM ID: 190120) 17q11.2 VBCH (provisional) Van Buchem disease (OMIM ID: 239100) 17q11.2-q12 ACCN1, BNC1, MDEG (provisional) Amiloride-sensitive cation channel 1, neuronal (degenerin) (OMIM ID: 601784) 17q11.2-q12 CLAPB1 (provisional) Clathrin-associated/assembly/adaptor protein, large, beta 1 (OMIM ID: 601025) 17q11.2-q12 CSF3, GCSF (confirmed) Colony-stimulating factor-3 (granulocyte) (OMIM ID: 138970) 17q11.2-q12 LIG3 (confirmed) Ligase III, DNA, ATP-dependent (OMIM ID: 600940) 17q11.2-q12 SCYA2, MCP1 (confirmed) Small inducible cytokine A2 (monocyte chemotactic protein, homologous (OMIM ID: 158105) 17q11.2-q12 SCYA5, D17S136E (provisional) Small inducible cytokine A5 (RANTES) (OMIM ID: 187011) 17q11.2-q12 SCYA7, MCP3 (provisional) Small inducible cytokine A7 (OMIM ID: 158106) 17q11.2-q24 MHS2 (provisional) Malignant hyperthermia susceptibility 2 (OMIM ID: 154275) 17q12 KRT12 (confirmed) Keratin-12 (OMIM ID: 601687) 17q12 NEUROD2 (provisional) Neurogenic differentiation 2 (OMIM ID: 601725) 17q12 RARA (confirmed) Retinoic acid receptor, alpha polypeptide (OMIM ID: 180240) 17q12-q21 ARF4L (provisional) ADP-ribosylation factor 4-like (OMIM ID: 600732) 17q12-q21 HSD17B1, EDH17B2 (confirmed) Estradiol 17-beta-dehydrogenase-1 (OMIM ID: 109684) 17q12-q21 IGFBP4 (provisional) Insulin-like growth factor-binding protein-4 (OMIM ID: 146733) 17q12-q21 KRT9, EPPK (confirmed) Keratin-9 (OMIM ID: 144200) 17q12-q21 KRT14 (provisional) Keratin-14 (OMIM ID: 148066) 17q12-q21 KRT16 (confirmed) Keratin-16 (OMIM ID: 148067) 17q12-q21 KRT17, PCHC1 (confirmed) Keratin-17 (OMIM ID: 148069) 17q12-q21 KRTHA2, HA2 (provisional) Keratin, hair, acidic, 2 (OMIM ID: 602760) 17q12-q21 KRTHA5 (provisional) Keratin, hair, acidic, 5 (OMIM ID: 602764) 17q12-q21 MPP2, DLG2 (provisional) Membrane protein, palmitoylated-2 (MAGUK p55 subfamily member 2) (OMIM ID: 600723) 17q12-q21 MPP3, DLG3 (provisional) Membrane protein, palmitoylated-3 (MAGUK p55 subfamily member 3) (OMIM ID: 601114) 17q12-q21 PPY (confirmed) Pancreatic polypeptide (OMIM ID: 167780) 17q12-q21 SOST (provisional) Sclerosteosis (OMIM ID: 269500) 17q12-q21 TADA2L (provisional) Transcriptional adaptor 2-like (OMIM ID: 602276) 17q12-q21 WD1 (provisional) Waldner blood group (OMIM ID: 112010) 17q12-q21 WT4 (provisional) Wilms tumor-4 (OMIM ID: 601363) 17q12-q21.2 CMKBR7, EBI1 (provisional) Chemokine (C-C) receptor 7 (Epstein-Barr virus induced gene 1) (OMIM ID: 600242) 17q12-q21.33 SGCA, ADL, DAG2, LGMD2D (confirmed) Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin) (OMIM ID: 600119) 17q12-q22 CRHR1, CRHR (provisional) Corticotropin releasing hormone receptor 1 (OMIM ID: 122561) 17q12-q22 PTMS (provisional) Parathymosin (OMIM ID: 168440) 17q12-q23.2 CDC27 (provisional) Cell division cycle 27 (OMIM ID: 116946) 17q21 ACACA, ACAC, ACC (confirmed) Acetyl-Coenzyme A carboxylase, alpha (OMIM ID: 200350) 17q21 AOC2, RAO (provisional) Amine oxidase, copper-containing, 2 (OMIM ID: 602268) 17q21 AOC3, HPAO, VAP1 (provisional) Amine oxidase, copper-containing 3 (OMIM ID: 603735) 17q21 ATP6N1, VPP1 (confirmed) ATPase, H+ transporting, lysosomal, non-catalytic accessory protein 1 (OMIM ID: 192130) 17q21 BRCA1 (confirmed) Breast cancer-1, early onset (OMIM ID: 113705) 17q21 CNP (confirmed) 2', 3' cyclic nucleotide 3' phosphohydrolase (OMIM ID: 123830) 17q21 ETV4 (provisional) ETS variant gene-4 (E1A enhancer-binding protein, E1AF) (OMIM ID: 600711) 17q21 DUSP3, VHR (confirmed) Dual specificity phosphatase-3 (vaccinia virus phosphatase (OMIM ID: 600183) 17q21 FGF11, FHF3 (provisional) Fibroblast growth factor-11 (OMIM ID: 601514) 17q21 G6PC, G6PT (confirmed) Glucose-6-phosphatase, catalytic (OMIM ID: 232200) 17q21 GAS, GAST (confirmed) Gastrin (OMIM ID: 137250) 17q21 GCN5L2 (confirmed) General control of amino acid synthesis, yeast, homolog-like 2 (OMIM ID: 602301) 17q21 GFAP (confirmed) Glial fibrillary acidic protein (OMIM ID: 137780) 17q21 GNGT2 (provisional) Guanine nucleotide-binding protein, gamma-transducing activity (OMIM ID: 603655) 17q21 IFI35 (confirmed) Interferon-induced protein-35 (OMIM ID: 600735) 17q21 JUP, DP3, PDGB (provisional) Junction plakoglobin (OMIM ID: 173325) 17q21 MEOX1, MOX1 (confirmed) Mesenchyme homeo box 1 (Mox1, mouse, homolog of) (OMIM ID: 600147) 17q21 MLLT6, AF17 (provisional) Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6 (OMIM ID: 600328) 17q21 NAGLU (provisional) N-acetylglucosaminidase, alpha- (OMIM ID: 252920) 17q21 PHB (confirmed) Prohibitin (OMIM ID: 176705) 17q21 PPND (provisional) Parkinsonism-dementia with pallidopontonigral degeneration (OMIM ID: 168610) 17q21 RHO7 (provisional) GTP-binding protein Rho7 (OMIM ID: 601555) 17q21 STAT3, APRF (provisional) Signal transducer and activator of transcription-3 (acute-phase (OMIM ID: 102582) 17q21 WNT3, INT4 (confirmed) Wingless-type MMTV integration site family, member 3 (OMIM ID: 165330) 17q21 WNT15 (confirmed) Wingless-type MMTV integration site family, member 15 (OMIM ID: 602864) 17q21-q22 A12M4 (confirmed) Adenovirus-12 chromosome modification site-17 (OMIM ID: 102970) 17q21-q22 CACNB1, CACNLB1, CCHLB1 (provisional) Calcium channel, voltage-dependent, beta 1 subunit (OMIM ID: 114207) 17q21-q22 FR (provisional) Froese blood group (OMIM ID: 601551) 17q21-q22 GPSC (provisional) Gliosis, familial progressive subcortical (OMIM ID: 221820) 17q21-q22 HOXB@, HOX2@ (confirmed) HOMEO BOX B CLUSTER (OMIM ID: ) 17q21-q22 HOXB1, HOX2I (confirmed) Homeo box-B1 (OMIM ID: 142968) 17q21-q22 HOXB2, HOX2H (confirmed) Homeo box-B2 (OMIM ID: 142967) 17q21-q22 HOXB3, HOX2G (confirmed) Homeo box-B3 (OMIM ID: 142966) 17q21-q22 HOXB4, HOX2F (confirmed) Homeo box-B4 (OMIM ID: 142965) 17q21-q22 HOXB5, HOX2A (confirmed) Homeo box-B5 (OMIM ID: 142960) 17q21-q22 HOXB6, HOX2B (confirmed) Homeo box-B6 (OMIM ID: 142961) 17q21-q22 HOXB7, HOX2C (confirmed) Homeo box-B7 (OMIM ID: 142962) 17q21-q22 HOXB8, HOX2D (confirmed) Homeo box-B8 (OMIM ID: 142963) 17q21-q22 HOXB9, HOX2E (confirmed) Homeo box-B9 (OMIM ID: 142964) 17q21-q22 KRT10 (confirmed) Keratin-10 (OMIM ID: 148080) 17q21-q22 KRT13 (provisional) Keratin-13 (OMIM ID: 148065) 17q21-q22 KRT15 (confirmed) Keratin-15, basic or beta- (OMIM ID: 148030) 17q21-q22 KRT19 (provisional) Keratin-19 (OMIM ID: 148020) 17q21-q22 NGFR, TNFRSF16 (confirmed) Nerve growth factor receptor (OMIM ID: 162010) 17q21-q22 NSF (provisional) N-ethylmaleimide-sensitive factor (OMIM ID: 601633) 17q21-q22 PHA2B (provisional) Pseudohypoaldosteronism type II (gene B) (OMIM ID: 601844) 17q21-q22 PNMT, PENT (confirmed) Phenylethanolamine N-methyltransferase (OMIM ID: 171190) 17q21-q22 RNU2 (confirmed) RNA, U2 small nuclear (OMIM ID: 180690) 17q21-q22 SHCL1 (provisional) SHC (Src homology 2 domain-containing) transforming protein-like 1 (OMIM ID: 600739) 17q21-q22 SLC4A1, AE1, EPB3 (confirmed) Solute carrier family 4, anion exchanger, member 1 (erythrocyte (OMIM ID: 109270) 17q21-q22 SW (provisional) Swann blood group (OMIM ID: 601550) 17q21-q22 TOP2A, TOP2 (confirmed) Topoisomerase (DNA) II, alpha (170kD) (OMIM ID: 126430) 17q21-q23 HTLVR (confirmed) Receptor for HTLV-1 and HTLV-2 (OMIM ID: 143090) 17q21-q23 SCYA4, ACT2 (confirmed) Small inducible cytokine A4 (homologous to mouse Mip-1b) (OMIM ID: 182284) 17q21.1 ACLY (confirmed) ATP citrate lyase (OMIM ID: 108728) 17q21.1 FZD2 (provisional) Frizzled (Drosophila) human homolog of, 2 (OMIM ID: 600667) 17q21.1 M17S2, CA125 (confirmed) Membrane component, chromosome 17, surface marker 2 (ovarian (OMIM ID: 166945) 17q21.1 MAPT, MTBT1, DDPAC, MSTD (confirmed) Microtubule-associated protein tau (OMIM ID: 157140) 17q21.1 TCFL4 (provisional) Transcription factor-like 4 (OMIM ID: 602976) 17q21.1-q21.2 SCYA11 (confirmed) Small inducible cytokine A11 (eotaxin) (OMIM ID: 601156) 17q21.1-q21.3 EZH1 (provisional) Enhancer of zeste (Drosophila) homolog 1 (OMIM ID: 601674) 17q21.1-q21.3 GPR2 (provisional) G protein-coupled receptor-2 (OMIM ID: 600240) 17q21.2 CA9, MN Carbonic anhydrase IX (OMIM ID: 603179) 17q21.2 ERBB2, NGL, NEU, HER2 (confirmed) Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2 (OMIM ID: 164870) 17q21.3 ADAM11, MDC (provisional) A disintegrin and metalloproteinase domain 11 (OMIM ID: 155120) 17q21.3 ERDA1 (provisional) Expanded repeat domain, CAG/CTG, 1 (OMIM ID: 603279) 17q21.3 NFE2L1, NRF1 (confirmed) Nuclear factor, erythroid-derived 2-like 1 (OMIM ID: 163260) 17q21.3 NME1, NM23 (confirmed) Non-metastatic cells 1, protein (NM23A) expressed in (OMIM ID: 156490) 17q21.3 NME2 (confirmed) Non-metastatic cells 2, protein (NM23) expressed in (OMIM ID: 156491) 17q21.3 UBTF, UBF (provisional) Upstream binding transcription factor, RNA polymerase I (OMIM ID: 600673) 17q21.3-q22 DLX3, TDO (confirmed) Distal-less homeo box-3 (OMIM ID: 600525) 17q21.3-q22 DLX4, DLX7, DLX8 (provisional) Distal-less homeo box-4 (OMIM ID: 601911) 17q21.3-q22 GIP (confirmed) Gastric inhibitory polypeptide (OMIM ID: 137240) 17q21.3-q22 MVWF (tentative) Modifier of von Willebrand factor (OMIM ID: 601628) 17q21.3-q22 SFRS1 (provisional) Splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate (OMIM ID: 600812) 17q21.31-q22.05 COL1A1 (confirmed) Collagen I, alpha-1 polypeptide (OMIM ID: 120150) 17q21.32 ITGA2B, GP2B, CD41B (confirmed) Integrin, alpha-2b (platelet glycoprotein IIb of IIb/IIIa complex, (OMIM ID: 273800) 17q21.32 ITGB3, GP3A (confirmed) Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61) (OMIM ID: 173470) 17q21.33 CHAD (provisional) Chondroadherin (OMIM ID: 602178) 17q22 BCL5 (provisional) B-cell CLL/lymphoma-5 (OMIM ID: 151441) 17q22 DGKE (provisional) Diacylglycerol kinase, epsilon, 64-kD (OMIM ID: 601440) 17q22 NOG, SYM1, SYNS1 (confirmed) Noggin, mouse, homolog of (OMIM ID: 602991) 17q22 RP17 (confirmed) Retinitis pigmentosa-17 (OMIM ID: 600852) 17q22-q23 COIL, CLN80 (provisional) Coilin p80 (OMIM ID: 600272) 17q22-q23 MKS, MKS1 (confirmed) Meckel syndrome, type 1 (OMIM ID: 249000) 17q22-q23 MUL (confirmed) Mulibrey nanism (OMIM ID: 253250) 17q22-q23 PNUTL2 (provisional) Peanut-like 2 (OMIM ID: 603696) 17q22-q23 TNFAIP1 (provisional) Tumor necrosis factor, alpha-induced protein-1 (endothelial) (OMIM ID: 191161) 17q22-q23.2 PRKCA, PKCA (confirmed) Protein kinase C, alpha polypeptide (OMIM ID: 176960) 17q22-q24 GHC@ (confirmed) GROWTH HORMONE/PLACENTAL LACTOGEN GENE CLUSTER (OMIM ID: ) 17q22-q24 CSH1, CSA, PL (confirmed) Chorionic somatomammotropin hormone-1 (OMIM ID: 150200) 17q22-q24 CSH2, CSB (confirmed) Chorionic somatomammotropin B (OMIM ID: 118820) 17q22-q24 CSHL1, CSL (provisional) Chorionic somatomammotropin hormone-like 1 (OMIM ID: 603515) 17q22-q24 GH1, GHN (confirmed) Growth hormone-1 (OMIM ID: 139250) 17q22-q24 GH2, GHV (confirmed) Growth hormone-2 (OMIM ID: 139240) 17q22-qter CDK3 (provisional) Cyclin-dependent kinase 3 (OMIM ID: 123828) 17q23 CA4 (provisional) Carbonic anhydrase IV (OMIM ID: 114760) 17q23 DCP1, ACE1 (confirmed) Dipeptidyl carboxypeptidase-1 (angiotensin I converting enzyme) (OMIM ID: 106180) 17q23 CD79B, IGB, B29 (provisional) Immunoglobulin-associated protein (B29) (OMIM ID: 147245) 17q23 PECAM1 (provisional) Platelet/endothelial cell adhesion molecule (CD31 antigen) (OMIM ID: 173445) 17q23 TBX2 (confirmed) T-box 2 (OMIM ID: 600747) 17q23-q24 PRKAR1A, TSE1 (confirmed) Protein kinase, cAMP-dependent, regulatory, type I, alpha (OMIM ID: 188830) 17q23-q24 SMARCD2, BAF60B (provisional) SWI/SNF-related, matrix-associated, actin-dependent regulator of (OMIM ID: 601736) 17q23-q25 DDX5, HLR1, G17P1 (confirmed) DEAD/H box-5 (RNA helicase, 68kD) (OMIM ID: 180630) 17q23-q25 ICAM2 (provisional) Intercellular adhesion molecule-2 (OMIM ID: 146630) 17q23-q25 UMPH2 (confirmed) Uridine 5'-monophosphate phosphohydrolase-2 (OMIM ID: 191720) 17q23-qter APOH (confirmed) Apolipoprotein H (beta-2-glycoprotein I) (OMIM ID: 138700) 17q23-qter PEPE (confirmed) Peptidase E (OMIM ID: 170200) 17q23.1 MPO (confirmed) Myeloperoxidase (OMIM ID: 254600) 17q23.1 ZNF147, EFP (confirmed) Zinc finger protein-147 (OMIM ID: 600453) 17q23.1-q25.3 SCN4A, HYPP, NAC1A (confirmed) Sodium channel, voltage-gated, type IV, alpha polypeptide (OMIM ID: 603967) 17q24 CACNG, CACNLG (confirmed) Calcium channel, voltage-dependent, gamma subunit (OMIM ID: 114209) 17q24 CCA1 (provisional) Cataract, congenital, cerulean type (OMIM ID: 115660) 17q24 FALZ, FAC1 (provisional) Fetal Alzheimer antigen (OMIM ID: 601819) 17q24 GALK1 (confirmed) Galactokinase-1 (OMIM ID: 230200) 17q24 SSTR2 (confirmed) Somatostatin receptor-2 (OMIM ID: 182452) 17q24 TOC, TEC (confirmed) Tylosis with esophageal cancer (OMIM ID: 148500) 17q24-q25 FDXR, ADXR (confirmed) Ferredoxin reductase (adrenodoxin reductase) (OMIM ID: 103270) 17q24-q25 GRB2 (confirmed) Growth factor receptor-bound protein 2 (OMIM ID: 600180) 17q24-q25 PRPSAP1 (provisional) Phosphoribosyl pyrophosphate synthetase-associated protein-1 (OMIM ID: 601249) 17q24-q25 PSMC5, TRIP1 (provisional) Proteasome (prosome, macropain) 26S subunit, ATPase, 5 (OMIM ID: 601681) 17q24-qter RAC3 (provisional) Ras-related C3 botulinum toxin substrate-3 (rho family, small (OMIM ID: 602050) 17q24.3-q25.1 SOX9, CMD1, SRA1 (confirmed) SRY (sex-determining region Y)-box 9 (OMIM ID: 114290) 17q25 AANAT, SNAT (provisional) Arylalkylamine N-acetyltransferase (OMIM ID: 600950) 17q25 ACOX1, ACOX (confirmed) Acyl-Coenzyme A oxidase 1 (OMIM ID: 264470) 17q25 ACTG1 (confirmed) Actin, gamma-1 (OMIM ID: 102560) 17q25 CDR3 (tentative) Cerebellar degeneration-related autoantigen-3 (OMIM ID: 602197) 17q25 CSNK1D (confirmed) Casein kinase-1, delta (OMIM ID: 600864) 17q25 D17S811E, SEC7 (provisional) Secretory protein SEC7, human homolog of (OMIM ID: 182115) 17q25 DNAH17L, DNEL1 (provisional) Dynein, axonemal, heavy chain 17-like (OMIM ID: 603330) 17q25 EVPL (provisional) Envoplakin (OMIM ID: 601590) 17q25 FASN (provisional) Fatty acid synthase (OMIM ID: 600212) 17q25 GCGR (provisional) Glucagon receptor (OMIM ID: 138033) 17q25 GRIN2C, NMDAR2C (provisional) Glutamate receptor, ionotropic, N-methyl D-aspartate 2C (OMIM ID: 138254) 17q25 H3F3B (provisional) H3 histone, family 3B (H3.3B) (OMIM ID: 601058) 17q25 ILF1 (provisional) Interleukin enhancer-binding factor 1 (OMIM ID: 147685) 17q25 LGALS3BP (provisional) Lectin, galactoside-binding, soluble, 3 binding protein (galectin 6 (OMIM ID: 600626) 17q25 NAPB (confirmed) Neuralgic amyotrophy with predilection for brachial plexus (OMIM ID: 162100) 17q25 P4HB, PROHB (confirmed) Procollagen-proline, 2-oxoglutarate-4-dioxygenase, beta polypeptide; (OMIM ID: 176790) 17q25 PDE6G, PDEG (confirmed) Phosphodiesterase-6G, cGMP-specific, rod, gamma (OMIM ID: 180073) 17q25 RECQL5, RECQ5 (provisional) RecQ protein-like 5 (DNA helicase, RecQ-like, type 5) (OMIM ID: 603781) 17q25 TIMP2 (provisional) Tissue inhibitor of metalloproteinase-2 (OMIM ID: 188825) 17q25-qter RPML12, MRPL12 (provisional) Ribosomal protein, mitochondrial, L12 (OMIM ID: 602375) 17q25.1-q25.2 NPTX1, NP1 (provisional) Pentraxin I, neuronal (OMIM ID: 602367) 17q25.1-q25.2 SEC14L (provisional) SEC14 (S. cerevisiae)-like (OMIM ID: 601504) 17q25.2-q25.3 CD7 (confirmed) CD7 antigen (p41) (OMIM ID: 186820) 17q25.2-q25.3 GAA (confirmed) Glucosidase, acid alpha- (OMIM ID: 232300) 17q25.2-q25.3 SECTM1, K12 (provisional) Secreted and transmembrane 1 (OMIM ID: 602602) 17q25.2-q25.3 TK1 (confirmed) Thymidine kinase-1 (OMIM ID: 188300) 17q25.3 ARHGDIA (provisional) Rho GDP dissociation inhibitor (GDI) alpha (OMIM ID: 601925) 17q25.3 GALR2, GALNR2 (provisional) Galanin receptor 2 (OMIM ID: 603691) 17q25.3 SGSH, MPS3A, SFMD (provisional) N-sulfoglucosamine sulfohydrolase (sulfamidase) (OMIM ID: 252900) C Chr.17 AKAP149, SAKAP84 (provisional) A kinase anchor protein, 149kD (OMIM ID: 602449) Chr.17 ATP5G1 (provisional) ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C, (OMIM ID: 603192) Chr.17 CHRNE (provisional) Cholinergic receptor, nicotinic, epsilon polypeptide (OMIM ID: 100725) Chr.17 DNAH2, DNAHC2 (provisional) Dynein, axonemal, heavy chain-2 (OMIM ID: 603333) Chr.17 G6PDL (provisional) Glucose-6-phosphate dehydrogenase-like (OMIM ID: 138110) Chr.17 GRN (provisional) Granulin (OMIM ID: 138945) Chr.17 MTMR4 (provisional) Myotubularin-related protein 4 (OMIM ID: 603559) Chr.17 MYL4 (confirmed) Myosin, light polypeptide-4, alkali; atrial, embryonic (OMIM ID: 160770) Chr.17 PFAS, FGARAT (provisional) phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) (OMIM ID: 602133) Chr.17 PYCR1 (provisional) Pyroline-5-carboxylate reductase-1 (OMIM ID: 179035) Chr.17 SCYA1 (provisional) Small inducible cytokine A1 (OMIM ID: 182281) Chr.17 SFRS2 (tentative) Splicing factor, arginine/serine-rich 2 (OMIM ID: 600813) 1 18pter-p11.21 ERV1 (confirmed) Oncogene ERV1; endogenous retrovirus-1 (OMIM ID: 131150) 18p11.32 MCL (tentative) Multiple hereditary cutaneous leiomyoma (OMIM ID: 150800) 18p11.32 TYMS, TS, TMS (confirmed) Thymidylate synthase (OMIM ID: 188350) 18p11.31 LAMA1 (provisional) Laminin, alpha-1 (OMIM ID: 150320) 18p11.31 MYP2 (provisional) Myopia, high grade, autosomal dominant 1 (OMIM ID: 160700) 18p11.31-p11.2 NDUFV2 (confirmed) NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD) (OMIM ID: 600532) 18p11.3 HPE4 (provisional) Holoprosencephaly-4 (OMIM ID: 142946) 18p11.3 YES1 (confirmed) Oncogene YES-1 (OMIM ID: 164880) 18p11.3-p11.2 PTPN2, PTPT (confirmed) Protein tyrosine phosphatase, non-receptor type 2 (OMIM ID: 176887) 18p11.23-p11.22 RNMT, MET (provisional) RNA guanine-7-methyltransferase (OMIM ID: 603514) 18p11.21 ZFP161, ZF5 (provisional) Zinc finger protein-161 (OMIM ID: 602126) 18p11.2 EIF4A2 (provisional) Eukaryotic translation initiation factor-4A, isoform 2 (OMIM ID: 601102) 18p11.2 MC2R (confirmed) Melanocortin-2 receptor (ACTH receptor) (OMIM ID: 202200) 18p11.2 MC5R (provisional) Melanocortin-5 receptor (OMIM ID: 600042) 18p11.2 PTPRM, PTPRL1, RPTPM (confirmed) Protein tyrosine phosphatase, receptor type, mu polypeptide (OMIM ID: 176888) 18p11 ADCYAP1 (provisional) Adenylate cyclase activating polypeptide-1 (pituitary) (OMIM ID: 102980) 18p DYT7 (provisional) Dystonia-7 (torsion dystonia, adult-onset, focal) (OMIM ID: 602124) 18p GNAL (provisional) Guanine nucleotide-binding protein, alpha-subunit, olfactory type (OMIM ID: 139312) 18p MAFD1, BPAD, MD1 (tentative) Major affective disorder 1 (OMIM ID: 125480) 18p SCZD8 (provisional) Schizophrenia susceptibility locus, chromosome 18-related (OMIM ID: 603206) 18q KNS1, KIF5B, UKHC (tentative) Kinesin 1 (OMIM ID: 602809) 18q OHDS (provisional) Orthostatic hypotensive disorder of Streeten (OMIM ID: 143850) 18q TGFBRE, TGFR (provisional) Transforming growth factor, beta-1 response element (OMIM ID: 275355) 18q11 TW (provisional) Twirler mouse mutation, human homolog of (OMIM ID: 601332) 18q11-q12 LCFS2 (tentative) Lynch cancer family syndrome II (OMIM ID: 114400) 18q11-q12 NPC1, NPC (confirmed) Niemann-Pick disease, type C (OMIM ID: 257220) 18q11-q12 SLC14A1, JK, UTE, UT1 (confirmed) Solute carrier family 14 (urea transporter), member 1 (Kidd blood (OMIM ID: 111000) 18q11.1-q11.2 GATA6 (provisional) GATA-binding protein-6 (OMIM ID: 601656) 18q11.1-q11.2 HVBS7 (provisional) Hepatitis B virus integration site-7 (OMIM ID: 142333) 18q11.2 CDH2, NCAD (confirmed) Cadherin 2 (cadherin, neuronal type; N-cadherin) (OMIM ID: 114020) 18q11.2 LAMA3 (provisional) Laminin, alpha-3 (nicein (150kD), (kalinin (165kD), BM600 (150kD), (OMIM ID: 600805) 18q11.2 SSXT, SYT (confirmed) Synovial sarcoma, translocated to X chromosome (OMIM ID: 600192) 18q11.2 SUDD (provisional) sudD, Aspergillus nidulans, homolog of (OMIM ID: 603579) 18q11.2-q12.1 AQP4, MIWC (provisional) Aquaporin-4 (OMIM ID: 600308) 18q11.2-q12.1 TTR, PALB (confirmed) Transthyretin (prealbumin) (OMIM ID: 176300) 18q12 ZNF24 (provisional) Zinc finger protein-24 (KOX17) (OMIM ID: 194534) 18q12-q21 ATP5A1, ATPM, ATP5A, ORM (confirmed) ATP synthase, H+ transporting (ATPase, mitochondrial) (OMIM ID: 164360) 18q12-q21 PRKM4, ERK3 (provisional) Protein kinase, mitogen-activated 4 (MAP kinase 4; p63) (OMIM ID: 176949) 18q12.1 DSC2, DSC3 (confirmed) Desmocollin-2 (OMIM ID: 125645) 18q12.1 DSC3, DSC4 (confirmed) Desmocollin-3 (OMIM ID: 600271) 18q12.1 GALNT1 (confirmed) UDP-N-acetyl-alpha-D-galactosamine:polypeptide (OMIM ID: 602273) 18q12.1-q12.2 DSG1 (confirmed) Desmoglein-1 (OMIM ID: 125670) 18q12.1-q12.2 DSG2 (confirmed) Desmoglein-2 (OMIM ID: 125671) 18q12.1-q12.2 DSG3 (confirmed) Desmoglein-3 (pemphigus vulgaris antigen) (OMIM ID: 169615) 18q12.1-q12.2 DTNA, D18S892E, DRP3 (provisional) Dystobrevin, alpha (dystrophin-related protein 3) (OMIM ID: 601239) 18q12.1-q21.1 SLC14A2, UT2, UTR (provisional) Solute carrier family 14 (urea transporter), member 2 (OMIM ID: 601611) 18q12.2-q12.3 MEP1B (provisional) Meprin A, beta (OMIM ID: 600389) 18q21 FIC1, BRIC, PFIC1 (provisional) Familial intrahepatic cholestasis-1 (OMIM ID: 602397) 18q21 GRP (confirmed) Gastrin-releasing peptide (OMIM ID: 137260) 18q21 IDDM6 (provisional) Insulin-dependent diabetes mellitus-6 (OMIM ID: 601941) 18q21 MADH2, JV18, SMAD2 (provisional) Mothers against decapentaplegic, Drosophila, homolog of, 2 (OMIM ID: 601366) 18q21 SSAV1 (confirmed) Simian sarcoma-associated virus-1/Gibbon ape leukemia virus (OMIM ID: 182090) 18q21-q22 LOH18CR1, OSTS (provisional) Loss of heterozygosity, 18, chromosomal region 1 (osteosarcoma (OMIM ID: 603045) 18q21-q22 PDB2 (confirmed) Paget disease of bone-2 (OMIM ID: 602080) 18q21.1 MADH4, DPC4, SMAD4, JIP (provisional) Mothers against decapentaplegic, Drosophila, homolog of, 4 (OMIM ID: 600993) 18q21.1 MBD1, PCM1 (provisional) Methyl=CpG binding domain protein 1 (protein containing methyl-CpG (OMIM ID: 156535) 18q21.1 TCF4, SEF2, ITF2 (provisional) Transcription factor-4 (immunoglobulin transcription factor-2) (OMIM ID: 602272) 18q21.1-q21.3 CORD1, CRD1 (provisional) Cone rod dystrophy 1, autosomal dominant (OMIM ID: 600624) 18q21.1-q22 OFE, FEO (provisional) Osteolysis, familial expansile (OMIM ID: 174810) 18q21.3 BCL2 (confirmed) B-cell CLL/lymphoma-2 (OMIM ID: 151430) 18q21.3 CNSN (provisional) Carnosinemia (carnosinase) (OMIM ID: 212200) 18q21.3 DCC (confirmed) Deleted in colorectal carcinoma (OMIM ID: 120470) 18q21.3 FECH, FCE (confirmed) Ferrochelatase (OMIM ID: 177000) 18q21.3 FVT1 (provisional) Follicular lymphoma, variant translocation 1 (OMIM ID: 136440) 18q21.3 PAI2, PLANH2 (confirmed) Plasminogen activator inhibitor, type II (arginine-serpin) (OMIM ID: 173390) 18q21.3 PI5 (provisional) Protease inhibitor 5 (maspin) (OMIM ID: 154790) 18q21.3 PI8, CAP2 (provisional) Protease inhibitor 8 (ovalbumin type) (OMIM ID: 601697) 18q21.3 PI10 (provisional) Protease inhibitor 10 (ovalbumin type, bomapin) (OMIM ID: 602058) 18q21.3 SCCA1 (confirmed) Squamous cell carcinoma antigen 1 (OMIM ID: 600517) 18q21.3 SCCA2 (provisional) Squamous cell carcinoma antigen 2 (OMIM ID: 600518) 18q21.3-q22 LMAN1, ERGIC53, F5F8D, MCFD1 (confirmed) Lectin, mannose-binding, 1 (OMIM ID: 601567) 18q22 MC4R (confirmed) Melanocortin-4 receptor (OMIM ID: 155541) 18q22-q23 CDH7 (provisional) Cadherin-7 (OMIM ID: 603016) 18q22-qter MBP (confirmed) Myelin basic protein (OMIM ID: 159430) 18q22.1 TNFRSF11A, RANK, ODFR (provisional) Tumor necrosis factor receptor superfamily, member 11A (OMIM ID: 603499) 18q23 CBLN2 (tentative) Cerebellin 2 precursor (OMIM ID: 600433) 18q23 CYB5 (confirmed) Cytochrome b5 (OMIM ID: 250790) 18q23 GALR1, GALNR1, GALNR (confirmed) Galanin receptor 1 (OMIM ID: 600377) 18q23 NFATC1 (provisional) Nuclear factor of activated T-cells, cytoplasmic-1 (OMIM ID: 600489) 18q23 PEPA (confirmed) Peptidase A (OMIM ID: 169800) C Chr.18 CETN1, CEN1 (provisional) Centrin-1 (OMIM ID: 603187) Chr.18 DSC1 (provisional) Desmocollin-1 (OMIM ID: 125643) Chr.18 MADH7, SMAD7 (provisional) Mothers against decapentaplegic, drosophila, homolog of, 7 (OMIM ID: 602932) Chr.18 NARS, ASNRS (provisional) Asparaginyl-tRNA synthetase (OMIM ID: 108410) Chr.18 SRP72 (provisional) Signal recognition particle, 72kD (OMIM ID: 602122) 1 19pter-p13.2 OK (provisional) Blood group OK (OMIM ID: 111380) 19pter-q13 CXB3S (provisional) Coxsackie virus B3 sensitivity (OMIM ID: 120050) 19pter-q12 EEF2, EF2 (confirmed) Eukaryotic translation elongation factor-2 (OMIM ID: 130610) 19p13.3 ATCAY, CLAC (provisional) Ataxia, cerebellar, Cayman type (OMIM ID: 601238) 19p13.3 AZU1, CAP37 (provisional) Azurocidin-1 (cationic antimicrobial protein-37) (OMIM ID: 162815) 19p13.3 BSG (provisional) Basigin (OMIM ID: 109480) 19p13.3 CAPS (provisional) Calcyphosine (OMIM ID: 114212) 19p13.3 CDC34 (provisional) Cell division cycle 34 (OMIM ID: 116948) 19p13.3 CIRBP (provisional) Cold-inducible RNA-binding protein (OMIM ID: 602649) 19p13.3 CSNK1G2 (provisional) Casein kinase 1, gamma-2 (OMIM ID: 602214) 19p13.3 DRIL1 (provisional) Dead ringer, drosophila, homolog-like 1 (OMIM ID: 603265) 19p13.3 EDG6 (provisional) G protein-coupled receptor, endothelial differentiation gene 6 (OMIM ID: 603751) 19p13.3 ELA2 (provisional) Elastase-2, neutrophil (OMIM ID: 130130) 19p13.3 EMR1 (provisional) egf-like module containing, mucin-like, hormone receptor-like (OMIM ID: 600493) 19p13.3 FCER2, FCE2, CD23 (confirmed) Fc fragment of IgE, low affinity II, receptor for (CD23A) (OMIM ID: 151445) 19p13.3 FEB2 (provisional) Febrile convulsions, familial, 2 (OMIM ID: 602477) 19p13.3 FUT3, LE (confirmed) Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis (OMIM ID: 111100) 19p13.3 FUT5 (provisional) Fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (OMIM ID: 136835) 19p13.3 FUT6 (provisional) Fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (OMIM ID: 136836) 19p13.3 GAMT (provisional) Guanidinoacetate methyltransferase (OMIM ID: 601240) 19p13.3 GPX4 (confirmed) Glutathione peroxidase-4 (phospholipid hydroperoxidase) (OMIM ID: 138322) 19p13.3 GTF2F1, RAP74 (provisional) General transcription factor IIF, polypeptide 1 (74kD subunit) (OMIM ID: 189968) 19p13.3 GZMM Granzyme M (lymphocyte met-ase 1) (OMIM ID: 600311) 19p13.3 HCDH, FZR (provisional) CDH1/HCT1, S. cerevisiae, homolog of (OMIM ID: 603619) 19p13.3 HHC2, FHH2 (provisional) Hypocalciuric hypercalcemia-2 (OMIM ID: 145981) 19p13.3 LMNB2, LMN2 (provisional) Lamin B2 (OMIM ID: 150341) 19p13.3 LW (confirmed) LW (Landsteiner-Weiner) blood group (OMIM ID: 111250) 19p13.3 MACAM1 (confirmed) Mucosal addressin cell adhesion molecule-1 (OMIM ID: 102670) 19p13.3 MATK, HYL, CTK (provisional) Megakaryocyte-associated tyrosine kinase (OMIM ID: 600038) 19p13.3 MBD3 (provisional) Methyl-CpG-binding domain protein 3 (OMIM ID: 603573) 19p13.3 MDRV (provisional) Muscular dystrophy with rimmed vacuoles (OMIM ID: 601846) 19p13.3 MLLT1, ENL (confirmed) Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) (OMIM ID: 159556) 19p13.3 NFIC (provisional) Nuclear factor I/C (CCAAT-binding transcription factor) (OMIM ID: 600729) 19p13.3 NFIX, NF1A (confirmed) Nuclear factor I/X (CCAAT-binding transcription factor) (OMIM ID: 164005) 19p13.3 NRTN, NTN (provisional) Neurturin (OMIM ID: 602018) 19p13.3 OAZ (provisional) Ornithine decarboxylase antizyme (OMIM ID: 601579) 19p13.3 POLR2E (provisional) Polymerase (RNA) II (DNA directed) polypeptide E (25kD) (OMIM ID: 180664) 19p13.3 POLRMT, APOLMT (provisional) Polymerase (RNA) mitochondrial (DNA directed) (OMIM ID: 601778) 19p13.3 PRTN3, AGP7 (confirmed) Proteinase-3 (serine proteinase, neutrophil, Wegener granulomatosis (OMIM ID: 177020) 19p13.3 PSMC1, S4 (provisional) Proteasome 26S subunit, ATPase, 1 (OMIM ID: 602706) 19p13.3 PSPN (provisional) Persephin (OMIM ID: 602921) 19p13.3 PTPRS (provisional) Protein tyrosine phosphatase, receptor type, sigma (OMIM ID: 601576) 19p13.3 RANBP3 (provisional) RAN-binding protein-3 (OMIM ID: 603327) 19p13.3 STK11, PJS, LKB1 (confirmed) Serine/threonine protein kinase-11 (OMIM ID: 602216) 19p13.3 TBXA2R (confirmed) Thromboxane A2 receptor (OMIM ID: 188070) 19p13.3 TCF3, E2A (confirmed) Transcription factor-3 (E2A immunoglobulin enhancer-binding (OMIM ID: 147141) 19p13.3 THOP1 (confirmed) Thimet oligopeptidase-1 (OMIM ID: 601117) 19p13.3 TLE1, ESG1 (provisional) Transducin-like enhancer of split 1 (homolog of Drosophila E(spl)) (OMIM ID: 600189) 19p13.3 TLE2, ESG2 (provisional) Transducin-like enhancer of split 2 (homolog of Drosophila E(spl)) (OMIM ID: 601041) 19p13.3-p13.2 AMH, MIF (provisional) Anti-Mullerian hormone (OMIM ID: 600957) 19p13.3-p13.2 ATHS, ALP (provisional) Atherosclerosis susceptibility (lipoprotein associated) (OMIM ID: 108725) 19p13.3-p13.2 C3 (confirmed) Complement component-3 (OMIM ID: 120700) 19p13.3-p13.2 DNMT1, MCMT (confirmed) DNA methyltransferase 1 (OMIM ID: 126375) 19p13.3-p13.2 EPOR (confirmed) Erythropoietin receptor (OMIM ID: 133171) 19p13.3-p13.2 ICAM1 (confirmed) Intercellular adhesion molecule-1 (OMIM ID: 147840) 19p13.3-p13.2 ICAM3, CDW50 (provisional) Intercellular adhesion molecule-3 (OMIM ID: 146631) 19p13.3-p13.2 MYO1D (provisional) Myosin ID (OMIM ID: 601480) 19p13.3-p13.2 NAGR1 (provisional) N-acetylglucosamine receptor 1 (thyroid) (OMIM ID: 160994) 19p13.3-p13.2 RFX2 (provisional) Regulatory factor (trans-acting) 2 (influences HLA class II (OMIM ID: 142765) 19p13.3-p13.2 SAFB, HET (provisional) Scaffold attachment factor B (OMIM ID: 602895) 19p13.3-p13.2 SAP62 (provisional) Spliceosome protein SAP-62 (OMIM ID: 600796) 19p13.3-p13.2 STXBP2, UNC18B (provisional) Syntaxin binding protein 2 (OMIM ID: 601717) 19p13.3-p13.2 ZNF20, KOX13 (provisional) Zinc finger protein-14 (KOX 6) (OMIM ID: 194557) 19p13.3-p13.2 VAV1, VAV (confirmed) Oncogene VAV1 (OMIM ID: 164875) 19p13.3-p13.2 ZNF14, KOX6 (provisional) Zinc finger protein-14 (KOX 6) (OMIM ID: 194556) 19p13.3-p13.1 ACP5 (confirmed) Acid phosphatase 5, tartrate resistant (OMIM ID: 171640) 19p13.2 ATP5J, ATP5 (tentative) ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 (OMIM ID: 603152) 19p13.2 BST2 (provisional) Bone marrow stromal cell antigen (OMIM ID: 600534) 19p13.2 CALR, SSA (provisional) Sicca syndrome antigen A (autoantigen Ro; calreticulin) (OMIM ID: 109091) 19p13.2 CNN1 (confirmed) Calponin 1 (OMIM ID: 600806) 19p13.2 ELAVL1, HUR (provisional) Embryonic lethal, abnormal vision, drosophila, homolog-like 1 (OMIM ID: 603466) 19p13.2 ELAVL3, HUC, PLE21 (provisional) Embryonic lethal, abnormal vision, drosophila, homolog-like 3 (OMIM ID: 603458) 19p13.2 GCDH (provisional) Glutaryl-Coenzyme A dehydrogenase (OMIM ID: 231670) 19p13.2 INSL3 (provisional) Insulin-like 3, Leydig cell (OMIM ID: 146738) 19p13.2 INSR (confirmed) Insulin receptor (OMIM ID: 147670) 19p13.2 JUNB (confirmed) jun B proto-oncogene (OMIM ID: 165161) 19p13.2 NDUFA7 (confirmed) NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a) (OMIM ID: 602139) 19p13.2 RAD23A, HHR23A (provisional) RAD23 (Saccharomyces cerevisiae) homolog A (OMIM ID: 600061) 19p13.2 PDE4A, DPDE2 (confirmed) Phosphodiesterase-4A, cAMP-specific (dunce (Drosophila)-homolog (OMIM ID: 600126) 19p13.2 SCYA25, TECK (confirmed) Small inducible cytokine subfamily A, member 25 (OMIM ID: 602565) 19p13.2 TCO (provisional) Thyroid carcinoma, nonmedullary, with cell oxyphilia (OMIM ID: 603386) 19p13.2 TLCN (provisional) Telencephalin (OMIM ID: 601852) 19p13.2 TYK2 (confirmed) Tyrosine kinase-2 (OMIM ID: 176941) 19p13.2 U2AF1RS3 (provisional) U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 3 (OMIM ID: 601080) 19p13.2-p13.11 RENT1 (provisional) Regulator of nonsense transcripts-1 (OMIM ID: 601430) 19p13.2-p13.12 CD97 (provisional) CD97 antigen (OMIM ID: 601211) 19p13.2-p13.1 LDLR, FHC, FH (confirmed) Low density lipoprotein receptor (OMIM ID: 143890) 19p13.2-p13.1 LYL1 (confirmed) Lymphoblastic leukemia derived sequence-1 (OMIM ID: 151440) 19p13.2-p13.1 NOTCH3, CADASIL, CASIL (confirmed) Notch (Drosophila) homolog 3 (OMIM ID: 600276) 19p13.2-p12 SLC5A5, NIS (provisional) Solute carrier family 5 (sodium iodide symporter), member-5 (OMIM ID: 601843) 19p13.2-cen MEL (confirmed) Oncogene MEL (OMIM ID: 165040) 19p13.2-q13.3 LPSA, D19S381E (provisional) Oncogene liposarcoma (DNA segment, single copy, expressed, probes (OMIM ID: 164953) 19p13.2-q13.4 DNASE2, DNL (provisional) Deoxyribonuclease II, lysosomal (OMIM ID: 126350) 19p13.12-p13.11 DHPS (confirmed) Deoxyhypusine synthase (OMIM ID: 600944) 19p13.12-p13.11 NDUFB7 (provisional) NADH-ubiquinone oxidoreductase 1 beta subcomplex, 7 (OMIM ID: 603842) 19p13.1 COMP, EDM1, MED, PSACH (provisional) Cartilage oligomeric matrix protein (OMIM ID: 600310) 19p13.1 ELL (confirmed) ELL gene (11-19 lysine-rich leukemia gene) (OMIM ID: 600284) 19p13.1 IL12RB1 (provisional) Interleukin-12 receptor, beta-1 (OMIM ID: 601604) 19p13.1 JAK3 (provisional) Janus kinase 3 (a protein tyrosine kinase, leukocyte) (OMIM ID: 600173) 19p13.1 MYO9B, MYR5 (provisional) Myosin IXB (OMIM ID: 602129) 19p13.1 RFX1 (confirmed) Regulatory factor (trans-acting) 1 (influences HLA class II (OMIM ID: 600006) 19p13.1 PRKACA (provisional) Protein kinase, cAMP-dependent, catalytic, alpha (OMIM ID: 601639) 19p13.1 PTGER1 (provisional) Prostaglandin E receptor 1, EP1 subtype, 42kD (OMIM ID: 176802) 19p13.1 TPM4 (provisional) Tropomyosin 4 (OMIM ID: 600317) 19p13.1-p12 JUND (confirmed) jun D proto-oncogene (OMIM ID: 165162) 19p13.1-p12 RAB3A (confirmed) RAS-associated protein RAB3A (OMIM ID: 179490) 19p13.1-p12 UBA52 (provisional) Ubiquitin A-52 residue ribosomal protein fusion product 1 (OMIM ID: 191321) 19p13.1-q13.11 EYCL1, GEY (provisional) Eye color 1, green/blue (OMIM ID: 227240) 19p13.1-q13.11 HCL1, BRHC (provisional) Brown hair color (OMIM ID: 113750) 19p13 CACNA1A, CACNL1A4, SCA6 (confirmed) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (OMIM ID: 601011) 19p13 CDKN2D (provisional) Cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) (OMIM ID: 600927) 19p13 EEN (provisional) Extra 11-19 leukemia fusion gene (EEN fusion partner of MLL) (OMIM ID: 601768) 19p13 GNA11 (provisional) Guanine nucleotide-binding protein, Gq class, GNA11 (OMIM ID: 139313) 19p13 GNA15, GNA16 (provisional) Guanine nucleotide-binding protein (G protein) alpha 15 (Gq class) (OMIM ID: 139314) 19p13 NDUFS7, PSST (provisional) NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (OMIM ID: 601825) 19p13 PIN1, DOD (provisional) Peptidyl-prolyl cis/trans isomerase, NIMA-interacting (OMIM ID: 601052) 19p13 SGT (provisional) Small glutamine-rich tetratricopeptide repeat-containing protein (OMIM ID: 603419) 19p13 TNFSF7, CD70, CD27L (provisional) Tumor necrosis factor ligand superfamily, member 7 (CD70 antigen) (OMIM ID: 602840) 19p13-q13.4 CD37 (provisional) Leukocyte surface antigen CD37 (OMIM ID: 151523) 19p12 CSPG3, NCAN (provisional) Chondroitin sulfate proteoglycan 3 (neurocan) (OMIM ID: 600826) 19p12 F2RL3, PAR4 (provisional) Coagulation factor II, thrombin, receptor-like 3 (OMIM ID: 602779) 19p12 MEF2B (provisional) MADS box transcription enhancer factor 2, polypeptide B (myocyte (OMIM ID: 600661) 19p12 PRKCL1, PRK1, PAK1 (confirmed) Protein kinase C-like 1 (OMIM ID: 601032) 19p12 RFXANK (provisional) Regulatory factor X, ankyrin repeat-containing (OMIM ID: 603200) 19p DNM2 (tentative) Dynamin-2 (OMIM ID: 602378) 19p EXT3 (provisional) Exostoses (multiple) 3 (OMIM ID: 600209) 19p FNRBL (provisional) Fibronectin receptor, beta subunit, pseudogene (insertion (OMIM ID: 135631) 19p ZNF77 (provisional) Zinc finger protein-77 (pT1) (OMIM ID: 194551) 19p ZNF121, D19S204 (provisional) Zinc finger protein-121 (clone ZHC32) (OMIM ID: 194628) 19cen-q12 MANB (confirmed) Mannosidase, alpha B, lysosomal (OMIM ID: 248500) 19cen-q13.11 PEPD (confirmed) Peptidase D (prolidase) (OMIM ID: 170100) 19cen-q13.2 A1BG (provisional) Glycoprotein, alpha-1B (OMIM ID: 138670) 19cen-q13.2 AD2 (confirmed) Alzheimer disease-2 (late-onset) (OMIM ID: 104310) 19cen-q13.2 APLP1, APLP (provisional) Amyloid beta (A4) precursor-like protein-1 (OMIM ID: 104775) 19q BFIC (provisional) Benign familial infantile convulsions (OMIM ID: 601764) 19q RPS11 (provisional) Ribosomal protein S11 (OMIM ID: 180471) 19q SYT3 (provisional) Synaptotagmin-3 (OMIM ID: 600327) 19q11-q13.2 HPN (provisional) Hepsin (OMIM ID: 142440) 19q12 POLR2I (provisional) Polymerase (RNA) II (DNA directed) polypeptide I (14.5kD) (OMIM ID: 180662) 19q12 UQCRFS1 (provisional) Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 (OMIM ID: 191327) 19q12-q13.2 ATP1A3 (confirmed) ATPase, Na+K+ transporting, alpha-3 polypeptide (OMIM ID: 182350) 19q12-q13.2 LRP3 (provisional) Low density lipoprotein receptor related protein 3 (OMIM ID: 603159) 19q13 BCAT2, BCT2 (confirmed) Branched chain aminotransferase-2, mitochondrial (OMIM ID: 113530) 19q13 BCL3 (confirmed) B-cell CLL/lymphoma-3 (OMIM ID: 109560) 19q13 CKM, CKMM (confirmed) Creatine kinase, muscle type (OMIM ID: 123310) 19q13 DBA (confirmed) Diamond-Blackfan anemia (OMIM ID: 205900) 19q13 DFNA4 (provisional) Deafness, autosomal dominant 4 (OMIM ID: 600652) 19q13 ECH1 (provisional) Enoyl Coenzyme A hydratase 1, peroxisomal (OMIM ID: 600696) 19q13 FSGS (provisional) Focal segmental glomerulosclerosis (OMIM ID: 603278) 19q13 KLK2 (confirmed) Kallikrein-2, prostatic (OMIM ID: 147960) 19q13 KLK3, APS, PSA (confirmed) Kallikrein 3, (prostate specific antigen) (OMIM ID: 176820) 19q13 OFC3 (provisional) Orofacial cleft-3 (OMIM ID: 600757) 19q13 PLAUR, URKR (provisional) Plasminogen activator, urokinase, receptor (OMIM ID: 173391) 19q13 USF2 (tentative) Upstream transcription factor 2, c-fos interacting (OMIM ID: 600390) 19q13-qter AAVS1 (provisional) Adeno-associated virus integration site-1 (OMIM ID: 102699) 19q13.1 ATP4A, ATP6A (provisional) ATPase, H+, K+ transporting, alpha (OMIM ID: 137216) 19q13.1 CCNE (confirmed) Cyclin E (OMIM ID: 123837) 19q13.1 CD22 (provisional) CD22 antigen (OMIM ID: 107266) 19q13.1 CEBPA, CEBP (confirmed) CCAAT/enhancer-binding protein (C/EBP), alpha (OMIM ID: 116897) 19q13.1 CLC (confirmed) Charcot-Leyden crystal protein (OMIM ID: 153310) 19q13.1 COX6B (provisional) Cytochrome c oxidase, subunit VIb (OMIM ID: 124089) 19q13.1 CSNU3 (provisional) Cystinuria, type III (OMIM ID: 600918) 19q13.1 DAP10 (provisional) DNAX-activation protein 10 (OMIM ID: 604089) 19q13.1 GPI (confirmed) Glucose phosphate isomerase; neuroleukin (OMIM ID: 172400) 19q13.1 GPR40 (provisional) G protein-coupled receptor-40 (OMIM ID: 603820) 19q13.1 GPR41 (provisional) G protein-coupled receptor-41 (OMIM ID: 603821) 19q13.1 GPR42 G protein-coupled receptor-42 (OMIM ID: 603822) 19q13.1 GPR43 (provisional) G protein-coupled receptor-43 (OMIM ID: 603823) 19q13.1 MAG, GMA (confirmed) Myelin-associated glycoprotein (OMIM ID: 159460) 19q13.1 NPHN, NPHS1 (provisional) Nephrin (OMIM ID: 602716) 19q13.1 PAFAH1B3 (provisional) Platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (OMIM ID: 603074) 19q13.1 PLM (provisional) Phospholemman (OMIM ID: 602359) 19q13.1 PLOSL (confirmed) Polycystic lipomembranous osteodysplasia with sclerosing (OMIM ID: 221770) 19q13.1 RPMS12, RPSM12 (confirmed) Ribosomal protein, mitochondrial, S12 (OMIM ID: 603021) 19q13.1 RYR1, MHS, CCO (confirmed) Ryanodine receptor-1 (skeletal) (OMIM ID: 180901) 19q13.1 SCN1B (confirmed) Sodium channel, voltage-gated, type I, beta polypeptide (OMIM ID: 600235) 19q13.1 SNRPA (provisional) Small nuclear ribonucleoprotein polypeptide A (OMIM ID: 182285) 19q13.1 TULP2 (provisional) Tubby-like protein-2 (OMIM ID: 602309) 19q13.1 ZFP36, TTP (provisional) Zinc finger protein homologous to Zfp-36 in mouse (OMIM ID: 190700) 19q13.1 ZNF146, OZF (provisional) Zinc finger protein-146 (OMIM ID: 601505) 19q13.1-q13.2 AKT2 (provisional) Murine thymoma viral (v-akt) homolog-2 (OMIM ID: 164731) 19q13.1-q13.2 AXL (confirmed) AXL transforming sequence (a receptor tyrosine kinase) (OMIM ID: 109135) 19q13.1-q13.2 BCKDHA, MSUD1 (confirmed) Branched chain keto acid dehydrogenase E1, alpha polypeptide (OMIM ID: 248600) 19q13.1-q13.2 LIPE, LHS (confirmed) Lipase, hormone-sensitive (OMIM ID: 151750) 19q13.1-q13.2 SUPT5H, SPT5 (provisional) Suppressor of Ty 5, S. cerevisiae, homolog of (OMIM ID: 602102) 19q13.1-q13.3 PSG1, PSBG1, B1G1, SP1 (confirmed) Pregnancy-specific beta-1-glycoprotein-1 (OMIM ID: 176390) 19q13.1-q13.3 PSG4 (provisional) Pregnancy-specific beta-1-glycoprotein-4 (OMIM ID: 176393) 19q13.1-q13.3 PSG5 (provisional) Pregnancy-specific beta-1-glycoprotein-5 (OMIM ID: 176394) 19q13.1-q13.3 PSG6 (provisional) Pregnancy-specific beta-1-glycoprotein-6 (OMIM ID: 176395) 19q13.1-q13.3 PSG7 (provisional) Pregnancy-specific beta-1-glycoprotein-7 (OMIM ID: 176396) 19q13.1-q13.3 PSG8 (provisional) Pregnancy-specific beta-1-glycoprotein-8 (OMIM ID: 176397) 19q13.1-q13.3 SCDO1 (provisional) Spondylocostal dysostosis, autosomal recessive, 1 (OMIM ID: 277300) 19q13.1-q13.3 TGFB1 (provisional) Transforming growth factor, beta-1 (OMIM ID: 190180) 19q13.1-qter E11S (confirmed) Echo 11 sensitivity (OMIM ID: 129150) 19q13.1-qter RDRC, M7V1, M7VS1 (confirmed) RD114 virus receptor (baboon M7 virus receptor) (OMIM ID: 109190) 19q13.11-q13.12 CKAP1 (provisional) Cytoskeleton-associated protein 1 (OMIM ID: 601303) 19q13.11-q13.13 PSMC4, TBP7, S6 (provisional) Proteasome 26S subunit, ATPase, 4 (OMIM ID: 602707) 19q13.13-q13.2 BLVRB (provisional) Biliverdin reductase B (OMIM ID: 600941) 19q13.1-qter GRIN2D, NMDAR2D (provisional) Glutamate receptor, ionotropic, N-methyl-D-aspartate 2D (OMIM ID: 602717) 19q13.2 APOC4 (provisional) Apolipoprotein C-IV (OMIM ID: 600745) 19q13.2 APOLP2@ (confirmed) APOLIPOPROTEIN CLUSTER II (OMIM ID: ) 19q13.2 APOE (confirmed) Apolipoprotein E (OMIM ID: 107741) 19q13.2 APOC1 (confirmed) Apolipoprotein C-I (OMIM ID: 107710) 19q13.2 APOC2 (confirmed) Apolipoprotein C-II (OMIM ID: 207750) 19q13.2 BGP (confirmed) Biliary glycoprotein (OMIM ID: 109770) 19q13.2 CEA (confirmed) Carcinoembryonic antigen (OMIM ID: 114890) 19q13.2 CD79A, IGA (provisional) CD79A antigen (immunoglobulin-associated alpha) (OMIM ID: 112205) 19q13.2 CYP2A, P450C2A (confirmed) Cytochrome P450, subfamily IIA, phenobarbital-inducible (OMIM ID: 123960) 19q13.2 CYP2A6, CYP2A3 (confirmed) Cytochrome P450, subfamily IIA, phenobarbital-inducible, polypeptide (OMIM ID: 122720) 19q13.2 CYP2B (confirmed) Cytochrome P450, subfamily IIB, phenobarbital-inducible (OMIM ID: 123930) 19q13.2 CYP2F1 (confirmed) Cytochrome P450, subfamily IIF, polypeptide 1 (OMIM ID: 124070) 19q13.2 GRIK5 (provisional) Glutamate receptor, ionotropic, kainate 5 (OMIM ID: 600283) 19q13.2 KCNN4, KCA4, SK4 (provisional) Potassium intermediate/small conductance calcium-activated channel, (OMIM ID: 602754) 19q13.2 LU, AU (confirmed) Lutheran blood group; Auberger blood group (OMIM ID: 111200) 19q13.2 NCA (confirmed) Non-specific crossreacting antigen (OMIM ID: 163980) 19q13.2 PSG2, PSBG2 (confirmed) Pregnancy-specific beta-1-glycoprotein-2 (OMIM ID: 176391) 19q13.2 PSG3 (provisional) Pregnancy-specific beta-1-glycoprotein-3 (OMIM ID: 176392) 19q13.2 PSG11 (provisional) Pregnancy-specific beta-1-glycoprotein-11 (OMIM ID: 176398) 19q13.2 PSG12 (provisional) Pregnancy-specific beta-1-glycoprotein-12 (OMIM ID: 176399) 19q13.2 PSG13 (provisional) Pregnancy-specific beta-1-glycoprotein-13 (OMIM ID: 176401) 19q13.2 XRCC1 (confirmed) X-ray-repair, complementing defective, repair in Chinese hamster (OMIM ID: 194360) 19q13.2 ZNF45 (provisional) Zinc finger protein-45 (a Kruppel-associated box (KRAB) domain (OMIM ID: 601781) 19q13.2-q13.3 CALM3 (confirmed) Calmodulin-3 (OMIM ID: 114183) 19q13.2-q13.3 CLAPS2, AP17 (provisional) Clathrin-associated/assembly/adaptor protein, small 2, 17kD (OMIM ID: 602242) 19q13.2-q13.3 DMPK, DM, DMK (confirmed) Dystrophia myotonica-protein kinase (OMIM ID: 160900) 19q13.2-q13.3 ERCC1, UV20 (confirmed) Excision repair cross complementing rodent repair deficiency, (OMIM ID: 126380) 19q13.2-q13.3 ERCC2, EM9 (confirmed) Excision repair cross complementing rodent repair deficiency, (OMIM ID: 126340) 19q13.2-q13.3 GPR4 (provisional) G protein-coupled receptor-4 (OMIM ID: 600551) 19q13.2-q13.3 HB1, PFHB1 (confirmed) Heart block, progressive familial, type I (OMIM ID: 113900) 19q13.2-q13.3 KLC2 (provisional) Kinesin, light chain, 2 (OMIM ID: 601334) 19q13.2-q13.3 LIG1 (confirmed) Ligase I, DNA, ATP-dependent (OMIM ID: 126391) 19q13.2-q13.3 MOK2 (provisional) Zinc finger MOK2 protein (OMIM ID: 601069) 19q13.2-q13.3 NPAS1, MOP5 (provisional) Neuronal PAS domain protein 1 (OMIM ID: 603346) 19q13.2-q13.3 OPA3, MGA3 (provisional) Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus') (OMIM ID: 258501) 19q13.2-q13.3 PVR, PVS (confirmed) Polio virus receptor (OMIM ID: 173850) 19q13.2-q13.3 TRSP (confirmed) tRNA phosphoserine (opal suppressor) (OMIM ID: 165060) 19q13.2-q13.3 VASP (provisional) Vasodilator-stimulated phosphoprotein (OMIM ID: 601703) 19q13.2-q13.4 CFM1 (provisional) Cystic fibrosis modifier-1 (OMIM ID: 603855) 19q13.2-q13.4 HNF3G (provisional) Hepatocyte nuclear factor 3-gamma (OMIM ID: 602295) 19q13.2-q13.4 KLK1, KLKR (confirmed) Kallikrein, renal/pancreas/salivary (OMIM ID: 147910) 19q13.2-q13.4 NUCB1 (provisional) Nucleobindin 1 (OMIM ID: 601323) 19q13.2-q13.4 PIK3R2 (provisional) Phosphatidylinositol 3-kinase, regulatory, 2 (OMIM ID: 603157) 19q13.2-q13.4 PVRL2, PVRR2, PRR2 (provisional) Poliovirus receptor-like 2 (OMIM ID: 600798) 19q13.2-q13.4 ZNF42, MZF1 (provisional) Zinc finger protein-42 (myeloid-specific retinoic acid responsive) (OMIM ID: 194550) 19q13.2-qter ZNF13, KOX5 (provisional) Zinc finger protein-13 (KOX 5) (OMIM ID: 194554) 19q13.2-qter ZNF27, KOX22 (provisional) Zinc finger protein-27 (KOX 22) (OMIM ID: 194555) 19q13.3 DBP (confirmed) D site of albumin promoter binding protein (OMIM ID: 124097) 19q13.3 CRX, CORD2, CRD (confirmed) Cone-rod homeo box-containing gene (OMIM ID: 602225) 19q13.3 ETFB (confirmed) Electron transfer flavoprotein, beta polypeptide (OMIM ID: 130410) 19q13.3 FCGRT (provisional) Fc fragment of IgG, receptor, transporter, alpha (OMIM ID: 601437) 19q13.3 FOSB (provisional) Oncogene FOS-B (OMIM ID: 164772) 19q13.3 FUT1, H, HH (confirmed) Fucosyltransferase-1 (Bombay phenotype) (OMIM ID: 211100) 19q13.3 FUT2, SE (confirmed) Fucosyltransferase-2 (secretor) (OMIM ID: 182100) 19q13.3 GIPR (confirmed) Gastric inhibitory polypeptide receptor (OMIM ID: 137241) 19q13.4 RPS9 (provisional) Ribosomal protein S9 (OMIM ID: 603631) 19q13.3 GPR32 (provisional) G protein-coupled receptor-32 (OMIM ID: 603195) 19q13.3 GYS1, GYS (confirmed) Glycogen synthase (OMIM ID: 138570) 19q13.3 HRC (provisional) Histidine-rich calcium-binding protein (OMIM ID: 142705) 19q13.3 NGFG (provisional) Nerve growth factor, gamma subunit (OMIM ID: 162040) 19q13.3 NOVA3, ANOVA (provisional) Neurooncological ventral antigen 3 (OMIM ID: 601991) 19q13.3 NTF5 , NTF4, NT5, NT4 (confirmed) Neurotrophin-5 (neurotrophin-4/5) (OMIM ID: 162662) 19q13.3 PPP5C, PP5 (provisional) Protein phosphatase-5, catalytic subunit (OMIM ID: 600658) 19q13.3 PRSS9, ZYME (confirmed) Serine protease 9 (neurosin; protease M) (OMIM ID: 602652) 19q13.3 PTGIR (provisional) Prostaglandin I2 (prostacyclin) receptor (IP) (OMIM ID: 600022) 19q13.3 RTN2, NSPL1 (provisional) Reticulon-2 (OMIM ID: 603183) 19q13.3 SIX5, DMAHP (provisional) Sine oculis homeo box, drosophila, homolog-5 (OMIM ID: 600963) 19q13.3 SNRP70, U1RNP, RNPU1Z, RPU1 (confirmed) Small nuclear ribonucleoprotein 70kD polypeptide (RNP antigen) (OMIM ID: 180740) 19q13.3 SLC1A5, RDRC, M7V1, M7VS1 (confirmed) Solute carrier family 1 (neutral amino acid transporter), member 5 (OMIM ID: 109190) 19q13.3 SPK (provisional) Symplekin (OMIM ID: 602388) 19q13.3 STD (confirmed) Sulfotransferase dehydroepiandrosterone (DHEA)-preferring (OMIM ID: 125263) 19q13.3 TEAD2, TEF4 (provisional) TEA domain family member 2 (OMIM ID: 601729) 19q13.3 UNR (provisional) Ubiquitously-expressed nuclear receptor (OMIM ID: 600380) 19q13.3 ZIPK (provisional) ZIP kinase (OMIM ID: 603289) 19q13.3-q13.4 BAX (confirmed) BCL2-associated X protein (OMIM ID: 600040) 19q13.3-q13.4 CD33 (confirmed) CD33 antigen (gp67) (OMIM ID: 159590) 19q13.3-q13.4 FTL (confirmed) Ferritin, light chain (OMIM ID: 134790) 19q13.3-q13.4 HAS1 (confirmed) Hyaluronan synthase 1 (OMIM ID: 601463) 19q13.3-q13.4 HYDM (provisional) Hydatidiform mole (OMIM ID: 231090) 19q13.3-q13.4 IL11 (provisional) Interleukin-11 (OMIM ID: 147681) 19q13.3-q13.4 IRF3 (provisional) Interferon regulatory factor 3 (OMIM ID: 603734) 19q13.3-q13.4 KCNC2 (provisional) Potassium voltage-gated channel, Shaw-related subfamily, member 2 (OMIM ID: 176256) 19q13.3-q13.4 KCNC3 (confirmed) Potassium voltage-gated channel, Shaw-related subfamily, member 3 (OMIM ID: 176264) 19q13.3-q13.4 POLD1 (confirmed) Polymerase (DNA directed), delta 1, catalytic subunit (OMIM ID: 174761) 19q13.3-q13.4 ZNF83 (provisional) Zinc finger protein-83 (HPF1) (OMIM ID: 194558) 19q13.3-q13.4 ZNF160 (provisional) Zinc finger protein-160 (OMIM ID: 600398) 19q13.3-qter STK13, AIE2 (provisional) Serine/threonine kinase 13, aurora/Ipl1-like (OMIM ID: 603495) 19q13.32 CGB (confirmed) Chorionic gonadotropin, beta polypeptide (OMIM ID: 118860) 19q13.32 LHB (confirmed) Luteinizing hormone, beta polypeptide (OMIM ID: 152780) 19q13.32-q13.33 MIA (provisional) Melanoma inhibitory activity (OMIM ID: 601340) 19q13.33 PRSSL1 (provisional) Protease, serine-like, 1 (OMIM ID: 602673) 19q13.4 FCAR (provisional) Fc fragment of IgA, receptor for (OMIM ID: 147045) 19q13.4 LAIR1 (provisional) Leukocyte-associated immunoglobulin-like receptor 1 (OMIM ID: 602992) 19q13.4 LIM2, MP19 (confirmed) Lens intrinsic protein 2 (19kD) (OMIM ID: 154045) 19q13.4 PEG3 (provisional) Paternally expressed gene 3 (OMIM ID: 601483) 19q13.4 PRKCG, PKCC, PKCG (confirmed) Protein kinase C, gamma polypeptide (OMIM ID: 176980) 19q13.4 PTPRH (provisional) Protein tyrosine phosphatase, receptor type, H (OMIM ID: 602510) 19q13.4 RP11 (confirmed) Retinitis pigmentosa-11 (autosomal dominant) (OMIM ID: 600138) 19q13.4 RPL28 (provisional) Ribosomal protein L28 (OMIM ID: 603638) 19q13.4 RPS5 (provisional) Ribosomal protein S5 (OMIM ID: 603630) 19q13.4 TNNI3 (confirmed) Troponin-I, cardiac (OMIM ID: 191044) 19q13.4 TNNT1 (confirmed) Troponin-T1, skeletal, slow (OMIM ID: 191041) 19q13.4 ZNFC25 (provisional) Zinc finger protein-C2H2-25 (OMIM ID: 601856) C Chr.19 AES (provisional) Amino-terminal enhancer of split (OMIM ID: 600188) Chr.19 C5R1, C5AR (provisional) Complement component-5 receptor-2 (C5a ligand) (OMIM ID: 113995) Chr.19 CAPN4 (provisional) Calpain, small polypeptide (OMIM ID: 114170) Chr.19 CLPP (provisional) ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human (OMIM ID: 601119) Chr.19 COX7A1, COX7AM (provisional) Cytochrome c oxidase, subunit VIIa, polypeptide-1 (muscle) (OMIM ID: 123995) Chr.19 EEC2 (provisional) Ectrodactyly, ectodermal dysplasia, cleft lip/palate-2 (OMIM ID: 602077) Chr.19 ERBAL2, EAR2 (provisional) ERBA-related gene-2 (OMIM ID: 132880) Chr.19 FPR1 (confirmed) Formyl peptide receptor-1 (OMIM ID: 136537) Chr.19 FPRL1, FPRH1 (provisional) Formyl peptide receptor-like-1 (OMIM ID: 136538) Chr.19 FPRL2, FPRH2 (provisional) Formyl peptide receptor-like-2 (OMIM ID: 136539) Chr.19 GUSM (provisional) Beta-glucuronidase, mouse, modifier of (OMIM ID: 231610) Chr.19 HKR1 (provisional) GLI-Kruppel family member HKR1 (oncogene HKR1) (OMIM ID: 165250) Chr.19 HKR2 (provisional) GLI-Kruppel family member HKR2 (oncogene HKR2) (OMIM ID: 165260) Chr.19 KCNA7 (provisional) Potassium voltage-gated channel, shaker-related subfamily, member 7 (OMIM ID: 176268) Chr.19 LGALS7 (provisional) Lectin, galactoside-binding, soluble, 7 (galectin 7) (OMIM ID: 600615) Chr.19 MYBPC2, MYBPCF (provisional) Myosin-binding protein C, fast type (OMIM ID: 160793) Chr.19 NEUD4 (provisional) Neuro-d4 (rat) homolog (OMIM ID: 601670) Chr.19 PCSK4 (provisional) Proprotein convertase subtilisin/kexin type 4 (OMIM ID: 600487) Chr.19 PDE4C, DPDE1 (provisional) Phosphodiesterase-4C, cAMP-specific (dunce (Drosophila)-homolog (OMIM ID: 600128) Chr.19 PGK2 (confirmed) Phosphoglycerate kinase-2 (testicular PGK) (OMIM ID: 172270) Chr.19 PPFIA3, LPNA3 (provisional) Protein tyrosine phosphatase, receptor type, f polypeptide (OMIM ID: 603144) Chr.19 POU2F2, OTF2, OCT2 (provisional) POU domain, class 2, transcription factor 2 (OMIM ID: 164176) Chr.19 PRKCSH, G19P1 (provisional) Protein kinase C substrate 80K-H (OMIM ID: 177060) Chr.19 RRAS (provisional) Oncogene RRAS (OMIM ID: 165090) 2 20pter-p12.21 PDYN (confirmed) Prodynorphin (OMIM ID: 131340) 20pter-p12 CHGB, SCG1 (confirmed) Chromogranin B (secretogranin B) (OMIM ID: 118920) 20pter-p12 PRNP, PRIP (confirmed) Prion protein (p27-30) (OMIM ID: 176640) 20p13 ADRA1D (confirmed) Adrenergic, alpha-1D-, receptor (OMIM ID: 104222) 20p13 ANGPT4, ANG4 (provisional) Angiopoietin 4 (OMIM ID: 603705) 20p13 AVP, AVRP, VP (confirmed) Arginine vasopressin (neurophysin II, antidiuretic hormone) (OMIM ID: 192340) 20p13 CDC25B (confirmed) Cell division cycle 25B (OMIM ID: 116949) 20p13 CDS2 (confirmed) CDP-diacylglycerol synthase 2 (OMIM ID: 603549) 20p13 CENPB (confirmed) Centromeric protein B (OMIM ID: 117140) 20p13 CSNK2A1, CK2A1 (confirmed) Casein kinase-2, alpha-1 polypeptide (OMIM ID: 115440) 20p13 FKBP1A, FKBP12 (confirmed) FK506-binding protein-1A (12kD) (OMIM ID: 186945) 20p13 GNRH2 (provisional) Gonadotropin-releasing hormone-2 (OMIM ID: 602352) 20p13 OXT (confirmed) Oxytocin-neurophysin I (OMIM ID: 167050) 20p13 PTPRA, PTPA, PTPRL2, LRP (confirmed) Protein tyrosine phosphatase, receptor type, alpha polypeptide (OMIM ID: 176884) 20p13 SN (provisional) Sialoadhesin (OMIM ID: 600751) 20p13 SOX22 (provisional) SRY (sex-determining region Y)-box 22 (OMIM ID: 601947) 20p13 SHPS1 (provisional) SHP substrate-1 (OMIM ID: 602461) 20p13 TCF15 (provisional) Transcription factor-15 (basic helix-loop-helix) (OMIM ID: 601010) 20p13-p12.3 NBIA1 (provisional) Neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz (OMIM ID: 234200) 20p12.1-p11.23 BFSP1, CP115 (provisional) Beaded filament structural protein-1 (filensin) (OMIM ID: 603307) 20p12 BMP2, BMP2A (confirmed) Bone morphogenetic protein-2 (OMIM ID: 112261) 20p12 MKKS, HMCS, KMS, MKS (provisional) Hydrometrocolpos (McKusick-Kaufman syndrome) (OMIM ID: 236700) 20p12 JAG1, AGS, AHD (confirmed) Jagged 1 (OMIM ID: 601920) 20p12 PCNA (confirmed) Proliferating cell nuclear antigen (OMIM ID: 176740) 20p12 PLCB4 (provisional) Phospholipase C, beta 4 (OMIM ID: 600810) 20p12-p11.2 RRBP1, ES130 (provisional) Ribosome binding protein-1 (OMIM ID: 601418) 20p11.2 CST1 (provisional) Cystatin SN (OMIM ID: 123855) 20p11.2 CST2 (confirmed) Cystatin SA (OMIM ID: 123856) 20p11.2 CST3 (confirmed) Cystatin C (OMIM ID: 105150) 20p11.2 CST4 (provisional) Cystatin S (OMIM ID: 123857) 20p11.21 CST5 (provisional) Cystatin D (OMIM ID: 123858) 20p11.2 IA1 (provisional) Insulinoma-associated 1 (OMIM ID: 600010) 20p11.2 PAX1 (confirmed) Paired box homeotic gene-1 (OMIM ID: 167411) 20p11.2 SSTR4 (provisional) Somatostatin receptor-4 (OMIM ID: 182454) 20p11.2 PCSK2, NEC2, PC2 (confirmed) Proprotein convertase subtilisin/kexin type 2 (OMIM ID: 162151) 20p11.2 SNAP25 (provisional) Synaptosomal-associated protein, 25kD (OMIM ID: 600322) 20p11.2 THBD, THRM (confirmed) Thrombomodulin (OMIM ID: 188040) 20p11.2-p11.1 PYGB (confirmed) Phosphorylase, glycogen, brain (OMIM ID: 138550) 20p11.2-q11.2 CHED (provisional) Congenital hereditary endothelial dystrophy of cornea (OMIM ID: 121700) 20p11.2-q11.2 PPCD, PPD (provisional) Posterior polymorphous corneal dystrophy (OMIM ID: 122000) 20p11 HNF3B (confirmed) Hepatic nuclear factor-3-beta (OMIM ID: 600288) 20p HDLD (provisional) Huntington disease-like neurodegenerative disorder (OMIM ID: 603218) 20p ITPA (confirmed) Inosine triphosphatase-A (OMIM ID: 147520) 20cen-q13 MAP1ALC3, MAP1BLC3 (provisional) Microtubule-associated proteins 1A and 1B, light chain 3 (OMIM ID: 601242) 20cen-q13.1 AHCY, SAHH (confirmed) S-adenosylhomocysteine hydrolase (OMIM ID: 180960) 20q11 ID1 (provisional) Inhibitor of DNA binding 1, dominant negative (OMIM ID: 600349) 20q11-q12 HCK (provisional) Hemopoietic cell kinase (OMIM ID: 142370) 20q11.2 ASIP, AGTIL (provisional) Agouti (mouse)-signaling protein (OMIM ID: 600201) 20q11.2 CD39L2 (provisional) CD39-like 2 (OMIM ID: 603160) 20q11.2 CDAN2, HEMPAS (provisional) Congenital dyserythropoietic anemia II (OMIM ID: 224100) 20q11.2 E2F1 (provisional) E2F transcription factor-1 (OMIM ID: 189971) 20q11.2 GDF5, CDMP1 (provisional) Growth/differentiation factor-5 (cartilage-derived morphogenetic (OMIM ID: 601146) 20q11.2 GHRH, GHRF (confirmed) Growth hormone releasing hormone (somatocrinin) (OMIM ID: 139190) 20q11.2 GR2 (provisional) Graves disease, susceptibility to, 2 (OMIM ID: 603388) 20q11.2 GSS, GSHS (provisional) Glutathione synthetase (OMIM ID: 601002) 20q11.2 ITGB4BP, EIF6, EIF3A (provisional) Integrin, beta-4, binding protein of (OMIM ID: 602912) 20q11.2 RBL1, CP107 (provisional) Retinoblastoma-like 1 (p107) (OMIM ID: 116957) 20q11.2 SNT1 (confirmed) Syntrophin, alpha (dystrophin-associated protein A1, 59kD, acidic (OMIM ID: 601017) 20q11.2 SPAG4 (provisional) Sperm-associated antigen-4 (OMIM ID: 603038) 20q11.2 ZNT4 (tentative) Zinc transporter-4 (OMIM ID: 602095) 20q11.2-q11.3 CBFA2T2, MTGR1, EHT (provisional) Core-binding factor, runt domain, alpha subunit 2, translocated to, 2 (OMIM ID: 603672) 20q11.2-q12 MLRG, MTS (provisional) Myeloid leukemia-related gene (myeloid tumor suppressor) (OMIM ID: 601308) 20q11.2-q12 NNAT (provisional) Neuronatin (OMIM ID: 603106) 20q11.2-q12 TGM2 (confirmed) Transglutaminase-2 (C polypeptide, (OMIM ID: 190196) 20q11.2-q13.1 MMP9, CLG4B (confirmed) Matrix metalloproteinase 9 (gelatinase B, 92kD type IV collagenase) (OMIM ID: 120361) 20q11.23-q12 BPI (provisional) Bactericidal/permeability-increasing protein (OMIM ID: 109195) 20q11.23-q12 LBP (provisional) Lipopolysaccharide-binding protein (OMIM ID: 151990) 20q12 AIB1 (provisional) Amplified in breast cancer-1 (OMIM ID: 601937) 20q12 TGM3 (provisional) Transglutaminase-3 (E polypeptide, protein-glutamine-gamma-glutamyl (OMIM ID: 600238) 20q12-q13 PI3 (provisional) Protease inhibitor 3, skin derived (SKALP) (OMIM ID: 182257) 20q12-q13 SDC4 (provisional) Syndecan 4 (amphiglycan, ryudocan) (OMIM ID: 600017) 20q12-q13 SRC, ASV, SRC1 (confirmed) Protooncogene SRC, Rous sarcoma (OMIM ID: 190090) 20q12-q13 WISP2 (provisional) Wnt-1 inducible signaling pathway protein 2 (OMIM ID: 603399) 20q12-q13.1 HNF4A, TCF14, MODY1 (confirmed) Hepatocyte nuclear factor 4, alpha (transcription factor-14) (OMIM ID: 600281) 20q12-q13.1 PLCG1, PLC1 (confirmed) Phospholipase C, gamma 1 (formerly subtype 148) (OMIM ID: 172420) 20q12-q13.1 PLTP (confirmed) Phospholipid transfer protein (OMIM ID: 172425) 20q12-q13.1 RPN2 (confirmed) Ribophorin II (OMIM ID: 180490) 20q12-q13.1 SEMG1, SEMG (confirmed) Semenogelin (OMIM ID: 182140) 20q12-q13.1 SEMG2 (provisional) Semenogelin II (OMIM ID: 182141) 20q12-q13.1 TOP1 (confirmed) Topoisomerase (DNA) I (OMIM ID: 126420) 20q12-q13.11 TNNC2 (confirmed) Troponin C2, fast (OMIM ID: 191039) 20q12-q13.2 TNFRSF5, CD40 (confirmed) Tumor necrosis factor receptor superfamily, member 5 (CD40 antigen) (OMIM ID: 109535) 20q13 CSE1L, CAS (provisional) Chromosome segregation-1, yeast, homolog of, like (OMIM ID: 601342) 20q13 CTSZ (provisional) Cathepsin Z (OMIM ID: 603169) 20q13 EEF1A2 (provisional) Eukaryotic translation elongation factor-1, alpha-2 (OMIM ID: 602959) 20q13 KCNG1, KH2 (provisional) Potassium voltage-gated channel, subfamily G, member 1 (OMIM ID: 603788) 20q13 NTSR1 (provisional) Neurotensin receptor (OMIM ID: 162651) 20q13 STK15, BTAK (provisional) Serine/threonine protein kinase 15 (OMIM ID: 603072) 20q13 TNFRSF6B, DCR3 (provisional) Tumor necrosis factor receptor superfamily, member 6b (decoy (OMIM ID: 603361) 20q13 ZNF8 (provisional) Zinc finger protein-8 (OMIM ID: 194532) 20q13.1 CEBPB, TCF5 (confirmed) CCAAT/enhancer-binding protein (C/EBP), beta (transcription factor-5) (OMIM ID: 189965) 20q13.1 EYA2 (confirmed) Eyes absent, Drosophila, human homolog of, 2 (OMIM ID: 601654) 20q13.1 MYBL2, BMYB (provisional) v-myb avian myeloblastosis viral oncogene homolog-like 2 (OMIM ID: 601415) 20q13.1 PPGB, GSL, NGBE, GLB2, CTSA (confirmed) Protective protein for beta-galactosidase (cathepsin A) (OMIM ID: 256540) 20q13.1 STAU (provisional) Staufen (Drosophila, RNA-binding protein) (OMIM ID: 601716) 20q13.1 YWHAB (provisional) Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation (OMIM ID: 601289) 20q13.1-q13.2 PTPN1, PTP1B (provisional) Protein tyrosine phosphatase, non-receptor type 1 (OMIM ID: 176885) 20q13.11 ADA (confirmed) Adenosine deaminase (OMIM ID: 102700) 20q13.11-q13.2 OQTL (provisional) Obesity quantitative trait locus (OMIM ID: 602025) 20q13.2 BCAS1, NABC1 (provisional) Breast carcinoma amplified sequence (OMIM ID: 602968) 20q13.2 GNAS1, GNAS, GPSA (confirmed) Guanine nucleotide-binding protein (G protein), alpha-stimulating (OMIM ID: 139320) 20q13.2 KCNB1 (provisional) Potassium voltage-gated channel, Shab-related subfamily, member 1 (OMIM ID: 600397) 20q13.2 MC3R (confirmed) Melanocortin-3 receptor (OMIM ID: 155540) 20q13.2 TFAP2C (provisional) Transcription factor AP-2 gamma (activating enhancer-binding protein (OMIM ID: 601602) 20q13.2 UBE2V1, UEV1 (provisional) Ubiquitin-conjugating enzyme E2 variant 1 (OMIM ID: 602995) 20q13.2 ZNF217 (provisional) Zinc finger protein-217 (OMIM ID: 602967) 20q13.2-q13.3 CHRNA4, ENFL1 (confirmed) Cholinergic receptor, nicotinic, alpha polypeptide-4 (OMIM ID: 118504) 20q13.2-q13.3 CYP24 (confirmed) Cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase) (OMIM ID: 600125) 20q13.2-q13.3 EDN3 (confirmed) Endothelin-3 (OMIM ID: 131242) 20q13.2-q13.3 EEGV1, EEGL (provisional) Electro-encephalographic variant pattern-1 (OMIM ID: 130180) 20q13.2-q13.3 LAMA5 (provisional) Laminin, alpha-5 (OMIM ID: 601033) 20q13.2-q13.3 NFATC2, NFATP (provisional) Nuclear factor of activated T-cells, cytoplasmic-2 (OMIM ID: 600490) 20q13.2-q13.3 STK6 (provisional) Serine/threonine protein kinase-6 (OMIM ID: 602687) 20q13.2-q13.3 TPD52L2 (provisional) Tumor protein D52-like 2 (OMIM ID: 603747) 20q13.3 COL9A3, EDM3 (confirmed) Collagen IX, alpha-3 polypeptide (OMIM ID: 120270) 20q13.3 CST1 (confirmed) Cystatin SN (OMIM ID: 123855) 20q13.3 GPR8 (provisional) G protein-coupled receptor-8 (OMIM ID: 600731) 20q13.3 KCNQ2, EBN1 (confirmed) Potassium voltage-gated channel, KQT-like subfamily, member 2 (OMIM ID: 602235) 20q13.31 PCK1 (confirmed) Phosphoenolpyruvate carboxykinase-1 (soluble) (OMIM ID: 261680) 20q13.3 PHP1B (provisional) Pseudohypoparathyroidism, type IB (OMIM ID: 603233) C Chr.20 ADRA1A (confirmed) Adrenergic, alpha-1A-, receptor (OMIM ID: 104219) Chr.20 BMP7 (provisional) Bone morphogenetic protein-7 (osteogenic protein-1) (OMIM ID: 112267) Chr.20 DCE (provisional) Desmosterol-to-cholesterol enzyme (OMIM ID: 125650) Chr.20 EIF4EL2 (provisional) Eukaryotic translation initiation factor 4E-like 2 (OMIM ID: 600200) Chr.20 HTL, LEUT, HLT (provisional) Leucine transport, high (OMIM ID: 151310) Chr.20 ICF, CIID (provisional) Immunodeficiency-centromeric instability with facial anomalies (OMIM ID: 242860) Chr.20 SVCT2 (provisional) Sodium-dependent vitamin C transporter 2 (OMIM ID: 603791) 2 21p12 RNR4 (confirmed) Ribosomal RNA-4 (OMIM ID: 180453) 21q11 NRIP1, RIP140 (confirmed) Nuclear receptor interacting protein 1 (receptor interacting protein (OMIM ID: 602490) 21q11.1 CNN2 (provisional) Calonin 2 (OMIM ID: 602373) 21q11.1 STCH (provisional) Stress 70 protein chaperone, microsome-associated, p60 (OMIM ID: 601100) 21q11.2 TAM, MST (provisional) Myeloproliferative syndrome, transient (transient abnormal (OMIM ID: 159595) 21q21 NCAM2 (provisional) Cell adhesion molecule, neural, 2 (OMIM ID: 602753) 21q21 PRSS7, ENTK (provisional) Protease, serine, 7 (enterokinase) (OMIM ID: 226200) 21q21 USH1E (provisional) Usher syndrome-2A, autosomal recessive, severe (OMIM ID: 602097) 21q21-q22.1 GABPA, E4TF1A (confirmed) GA-binding protein transcription factor, alpha subunit (60kD) (OMIM ID: 600609) 21q21.3 CTBP2 (provisional) C-terminal-binding protein 2 (OMIM ID: 602619) 21q21.3-q22.05 APP, AAA, CVAP, AD1 (confirmed) Amyloid beta (A4) precursor protein (OMIM ID: 104760) 21q22 GRIK1, GLUR5 (confirmed) Glutamate receptor, ionotropic, kainate 1 (OMIM ID: 138245) 21q22 SLC5A3 (provisional) Solute carrier family 5 (inositol transporter), member 3 (OMIM ID: 600444) 21q22.1 CRFB4 (provisional) Cytokine receptor, family II, member 4 (OMIM ID: 123889) 21q22.1 CRYZL1 (provisional) Crystallin, zeta-like 1 (OMIM ID: 603920) 21q22.1 DYRK1A, MNBH, MNB (confirmed) Dual specificity tyrosine-(Y)-phosphorylation regulated kinase-1A (OMIM ID: 600855) 21q22.1 GART, PRGS, PGFT (confirmed) Phosphoribosylglycinamide formyltransferase (phosphoribosylglycinamide (OMIM ID: 138440) 21q22.1 HLCS, HCS (provisional) Holocarbyoxylase synthetase (OMIM ID: 253270) 21q22.1 IFNAR1 (confirmed) Interferon, alpha, beta and omega, receptor 1 (OMIM ID: 107450) 21q22.1 IFNAR2 (confirmed) Interferon, alpha, beta, and omega, receptor 2 (OMIM ID: 602376) 21q22.1 KCNE2, MIRP1 (provisional) Potassium voltage-gated channel, Isk-related family, member 2 (OMIM ID: 603796) 21q22.1 KCNJ6, GIRK2, KCNJ7 (provisional) Potassium inwardly rectifying channel, subfamily J, member 6 (OMIM ID: 600877) 21q22.1 SOD1, ALS1 (confirmed) Superoxide dismutase-1, soluble (OMIM ID: 147450) 21q22.1 TIAM1 (provisional) T-cell lymphoma invasion and metastasis 1 (OMIM ID: 600687) 21q22.1-q22.2 ATP5O (provisional) ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (OMIM ID: 600828) 21q22.1-q22.2 FPDMM (confirmed) Platelet disorder, familial, with associated myeloid malignancy (OMIM ID: 601399) 21q22.1-q22.2 IFNGR2, IFNGT1, IFGR2 (confirmed) Interferon gamma receptor-2 (interferon gamma transducer 1) (OMIM ID: 147569) 21q22.1-q22.2 ITSN, SH3D1A, SH3P17 (provisional) Intersectin (SH3 domain protein-1A) (OMIM ID: 602442) 21q22.1-q22.2 KCNE1 (confirmed) Potassium voltage-gated channel, Isk-related subfamily, member 1 (OMIM ID: 176261) 21q22.1-q22.2 KCNJ6 (provisional) Potassium inwardly-rectifying channel, subfamily J, member 6 (OMIM ID: 600877) 21q22.1-q22.2 SON (provisional) SON DNA-binding protein (OMIM ID: 182465) 21q22.12 CBR1 (confirmed) Carbonyl reductase 1 (OMIM ID: 114830) 21q22.2 CAF1A (provisional) Chromatin assembly factor I, p60 subunit (OMIM ID: 601245) 21q22.2 EZH2, EZH1 (provisional) Enhancer of zeste (Drosophila) homolog-2 (OMIM ID: 601573) 21q22.2 KCNJ15 (provisional) Potassium inwardly-rectifying channel, subfamily J, member-15 (OMIM ID: 602106) 21q22.2 SIM2 (provisional) Single-minded (Drosophila) homolog 2 (OMIM ID: 600892) 21q22.2 TTC3, TPRD (provisional) Tetratricopeptide repeat domain 3 (OMIM ID: 602259) 21q22.2-q22.3 DSCAM (provisional) Down syndrome cell adhesion molecule (OMIM ID: 602523) 21q22.2-q22.3 S100B (confirmed) S100 calcium-binding protein, beta (neural) (OMIM ID: 176990) 21q22.3 ABC8 (provisional) White, drosophila, homolog of (ABC-binding cassette transporter 8) (OMIM ID: 603076) 21q22.3 ADARB1, RED1 (confirmed) Adenosine deaminase, RNA-specific, B1 (homolog of rat RED1) (OMIM ID: 601218) 21q22.3 AIRE, APECED (confirmed) Autoimmune regulator (OMIM ID: 240300) 21q22.3 C21orf2 (provisional) Chromosome 21 open reading frame 2 (OMIM ID: 603191) 21q22.3 C21orf1, C21orf3 (provisional) Chromosome 21 open reading frame 1 (OMIM ID: 603784) 21q22.3 CBFA2, AML1 (confirmed) Core-binding factor, runt domain, alpha subunit (aml1 oncogene) (OMIM ID: 151385) 21q22.3 CBS (confirmed) Cystathionine beta-synthase (OMIM ID: 236200) 21q22.3 COL6A1 (confirmed) Collagen VI, alpha-1 polypeptide (OMIM ID: 120220) 21q22.3 COL6A2 (confirmed) Collagen VI, alpha-2 polypeptide (OMIM ID: 120240) 21q22.3 COL18A1 (provisional) Collagen XVIII, alpha-1 polypeptide (OMIM ID: 120328) 21q22.3 CRYAA, CRYA1 (confirmed) Crystallin, alpha A (OMIM ID: 123580) 21q22.3 CSTB, STFB, EPM1 (provisional) Cystatin B (stefin B) (OMIM ID: 601145) 21q22.3 DFNB8 (provisional) Deafness, autosomal recessive 8 (OMIM ID: 601072) 21q22.3 DCR, DSCR (confirmed) Down syndrome chromosome region (OMIM ID: 190685) 21q22.3 ERG (confirmed) Erythroblastosis virus E26, avian, (v-ets) oncogene related (OMIM ID: 165080) 21q22.3 ES1, HES1, GT335 (confirmed) ES1, zebrafish, protein, human homolog of (OMIM ID: 601659) 21q22.3 ETS2 (confirmed) Oncogene ETS-2 (OMIM ID: 164740) 21q22.3 HMG14 (confirmed) Nonhistone chromosomal protein HMG-14 (OMIM ID: 163920) 21q22.3 HPE1 (provisional) Holoprosencephaly-1, alobar (OMIM ID: 236100) 21q22.3 HRMT1L1, PRMT2 (provisional) HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1 (OMIM ID: 601961) 21q22.3 ITGB2, CD18, LCAMB, LAD (confirmed) Integrin, beta-2 (antigen CD18 (p95), lymphocyte function-associated (OMIM ID: 600065) 21q22.3 KNO, KS (provisional) Knobloch syndrome (OMIM ID: 267750) 21q22.3 LSS (provisional) Lanosterol synthase (OMIM ID: 600909) 21q22.3 MX1, MX, IFI78 (confirmed) Myxovirus (influenza) resistance-1 (interferon induced protein p78) (OMIM ID: 147150) 21q22.3 NDUFV3 (provisional) NADH-ubiquinone oxidoreductase flavoprotein 3, 10kD (OMIM ID: 602184) 21q22.3 PCNT (provisional) Pericentrin (OMIM ID: 170285) 21q22.3 PCP4 (confirmed) Purkinje cell protein 4 (OMIM ID: 601629) 21q22.3 PDE9A, HSPDE9A2 (provisional) Phosphodiesterase 9A (OMIM ID: 602973) 21q22.3 PFKL (confirmed) Phosphofructokinase, liver type (OMIM ID: 171860) 21q22.3 PKNOX1 (provisional) PBX/knotted 1 homeo box 1 (OMIM ID: 602100) 21q22.3 PWP2H, PWP2 (provisional) PWP2 (periodic tryptophan protein, yeast) homolog (OMIM ID: 601475) 21q22.3 SH3GBR (provisional) SH3 domain binding glutamic acid-rich protein (OMIM ID: 602230) 21q22.3 SLC19A1, FOLT (provisional) Solute carrier family 19 (folate transporter), member 1 (OMIM ID: 600424) 21q22.3 SMT3H1 (provisional) SMT3, yeast, homolog 1 (OMIM ID: 602231) 21q22.3 SPOCK (provisional) Testican (OMIM ID: 602264) 21q22.3 TFF1, BCEI (confirmed) Trefoil factor 1 (breast cancer, estrogen-inducible sequence (OMIM ID: 113710) 21q22.3 TFF2, SML1 (confirmed) Trefoil factor 2 (spasmolytic protein-1) (OMIM ID: 182590) 21q22.3 TFF3, ITF (confirmed) Trefoil factor 3 (intestinal) (OMIM ID: 600633) 21q22.3 TMEM1, EHOC1 (confirmed) Transmembrane protein 1 (OMIM ID: 602103) 21q22.3 TMPRSS2 (provisional) Transmembrane protease, serine 2 (OMIM ID: 602060) 21q22.3 TRPC7, KNP3 (provisional) Transient receptor potential channel 7 (OMIM ID: 603749) 21q22.3 U2AF1 (provisional) U2(RNU2) small nuclear RNA auxillary factor 1 (OMIM ID: 191317) 21q22.3 UBE2G2, UBC7 (confirmed) Ubiquitin-conjugating enzyme E2G 2 (OMIM ID: 603124) 21q22.3 WRB, CHD5 (provisional) Tryptophan-rich basic protein (OMIM ID: 602915) C Chr.21 AABT (tentative) Beta-amino acids, renal transport of (OMIM ID: 109660) Chr.21 BAS (tentative) Beta-adrenergic stimulation, response to (OMIM ID: 109670) Chr.21 HSPA3 (provisional) Heat-shock 70kD protein-3 (OMIM ID: 140570) Chr.21 HTOR (tentative) 5-hydroxytryptamine oxygenase regulator (OMIM ID: 143460) Chr.21 MAP80 (provisional) Minichromosome maintenance 3-associated protein, 80-kD (OMIM ID: 603294) Chr.21 MX2 (tentative) Myxovirus (influenza) resistance-2 (OMIM ID: 147890) Chr.21 VDAC2 (provisional) Voltage-dependent anion channel 2 (OMIM ID: 193245) 2 22pter-q13 XBP1, XBP2 (provisional) X-box-binding protein-1 (OMIM ID: 194355) 22p12 RNR5 (confirmed) Ribosomal RNA-5 (OMIM ID: 180454) 22p ZNF72 (provisional) Zinc finger protein-72 (Cos8) (OMIM ID: 194546) 22p ZNF73 (provisional) Zinc finger protein-73 (Cos12) (OMIM ID: 194547) 22q11 ADRBK2, BARK2 (provisional) Adrenergic, beta, receptor kinase-2 (OMIM ID: 109636) 22q11 ARVCF (provisional) Armadillo repeat gene deleted in VCFS (OMIM ID: 602269) 22q11 CECR, CES (confirmed) Cat eye syndrome (OMIM ID: 115470) 22q11 CRKL (provisional) v-crk avian sarcoma virus CT10 oncogene homolog-like (OMIM ID: 602007) 22q11 CTHM (tentative) Conotruncal cardiac anomalies (OMIM ID: 217095) 22q11 DGCR, DGS, VCF (confirmed) DiGeorge syndrome chromosome region (velocardiofacial syndrome) (OMIM ID: 188400) 22q11 DGCR6 (provisional) DiGeorge syndrome critical region 6 (OMIM ID: 601279) 22q11 DVL, DVL1 (provisional) Dishevelled, Drosophila, homolog-like (OMIM ID: 601225) 22q11 HCF2, HC2 (confirmed) Heparin cofactor II (OMIM ID: 142360) 22q11 HIRA, TUPLE1 (confirmed) Histone cell cycle regulation defective, S. cerevisiae, homolog of, A (OMIM ID: 600237) 22q11 NAGA (confirmed) Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B) (OMIM ID: 104170) 22q11 SLC25A1, SLC20A3, CTP (confirmed) Solute carrier family 25 (mitochondrial citrate transporter), member 1 (OMIM ID: 190315) 22q11 SMARCB1, SNF5, INI1, RDT (confirmed) SWI/SNF related, matrix associated, actin dependent regulator of (OMIM ID: 601607) 22q11 TOP3B (provisional) Topoisomerase, DNA, III, beta (OMIM ID: 603582) 22q11-q12 LRE1, L1.2 (confirmed) Line-1.2 retrotransposable element (OMIM ID: 151626) 22q11-q13 G22P1, KU70 (confirmed) Thyroid autoantigen 70kD (Ku antigen) (OMIM ID: 152690) 22q11-q13 SCZD4 (provisional) Schizophrenia susceptibility locus, chromosome 22-related (OMIM ID: 600850) 22q11.1-q11.2 GGT1, GTG (confirmed) Gamma-glutamyltransferase-1 (OMIM ID: 231950) 22q11.1-q11.2 LZTR1 (provisional) Leucine-zipper-like regulator-1 (OMIM ID: 600574) 22q11.1 GGT2 (provisional) Gamma-glutamyltransferase-2 (OMIM ID: 137181) 22q11.2 ADORA2A (confirmed) Adenosine A2a receptor (OMIM ID: 102776) 22q11.2 ATP6E (confirmed) ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD (OMIM ID: 108746) 22q11.2 BID (provisional) BH3-interacting domain death agonist (OMIM ID: 601997) 22q11.2 CDC45L, CDC45L2 (confirmed) Cell division cycle 45, S. Cerevisiae, homolog-like (OMIM ID: 603465) 22q11.2 CDCREL (confirmed) Cell division cycle-related gene (OMIM ID: 602724) 22q11.2 CLDN5, TMVCF, AWAL (provisional) Claudin-5 (transmembrane protein deleted in velocardiofacial syndrome) (OMIM ID: 602101) 22q11.2 COMT (confirmed) Catechol-O-methyltransferase (OMIM ID: 116790) 22q11.2 CLTCL1, CLTD (provisional) Clathrin, heavy polypeptide-like 1 (OMIM ID: 601273) 22q11.2 DDT (provisional) D-dopachrome tautomerase (OMIM ID: 602750) 22q11.2 DGCR2, IDD (provisional) DiGeorge critical region gene 2 (integral membrane protein deleted (OMIM ID: 600594) 22q11.2 DGSI (provisional) DiGeorge syndrome critical region gene DGSI (OMIM ID: 601755) 22q11.2 GNAZ (confirmed) Guanine nucleotide-binding protein (G protein), alpha z polypeptide (OMIM ID: 139160) 22q11.2 GP1BB (confirmed) Glycoprotein Ib, platelet, beta polypeptide (OMIM ID: 138720) 22q11.2 GSCL (provisional) Goosecoid-like (OMIM ID: 601845) 22q11.2 GSTT2 (provisional) Glutathione S-transferase theta-2 (OMIM ID: 600437) 22q11.2 IGLV (confirmed) Variable region of lambda light chains (OMIM ID: 147240) 22q11.2 IGLJ (confirmed) J region of lambda light chains (OMIM ID: 147230) 22q11.2 IGLC1, IGLC (confirmed) Constant region of lambda light chains (OMIM ID: 147220) 22q11.2 MIF (confirmed) Macrophage migration inhibitory factor (OMIM ID: 153620) 22q11.2 MMP11, STMY3 (provisional) Matrix metalloproteinase 11 (stromelysin 3) (OMIM ID: 185261) 22q11.2 MYH9 (confirmed) Myosin, heavy polypeptide-9, nonmuscle (OMIM ID: 160775) 22q11.2 OGS2, BBBG2, GBBB2 (confirmed) Opitz G syndrome, type II (OMIM ID: 145410) 22q11.2 PRKM1, ERK2, MAPK1 (confirmed) Protein kinase, mitogen-activated 1 (MAP kinase 1; p40, p41) (OMIM ID: 176948) 22q11.2 PRODH (confirmed) Proline dehydrogenase (proline oxidase) (OMIM ID: 239500) 22q11.2 SLC7A4, CAT4 (provisional) Solute carrier family 7 (cationic amino acid transporter, y+ system), (OMIM ID: 603752) 22q11.2 UFD1L (confirmed) Ubiquitin fusion degradation 1-like (OMIM ID: 601754) 22q11.2 TBX1 (provisional) T-box 1 (OMIM ID: 602054) 22q11.2 ZNF69 (provisional) Zinc finger protein-69 (Cos5) (OMIM ID: 194543) 22q11.2 ZNF70 (provisional) Zinc finger protein-70 (Cos17) (OMIM ID: 194544) 22q11.2 ZNF71 (provisional) Zinc finger protein-71 (Cos26) (OMIM ID: 194545) 22q11.2 ZNF74 (provisional) Zinc finger protein-74 (Cos52) (OMIM ID: 194548) 22q11.2-q12.1 CRYBB1 (provisional) Crystallin, beta B1 (OMIM ID: 600929) 22q11.2-q12.2 CRYBB2, CRYB2 (confirmed) Crystallin, beta-B2 (OMIM ID: 123620) 22q11.2-q12.2 CRYBB3, CRYB3 (confirmed) Crystallin, beta-B3 (OMIM ID: 123630) 22q11.2-q13 IL2RB (confirmed) Interleukin-2 receptor, beta polypeptide (OMIM ID: 146710) 22q11.2-q13 MB (confirmed) Myoglobin (OMIM ID: 160000) 22q11.2-q13.1 CRYBA4 (provisional) Crystallin, beta polypeptide A4 (OMIM ID: 123631) 22q11.2-qter MPST (provisional) Mercaptopyruvate sulfurtransferase (OMIM ID: 602496) 22q11.2-qter P1 (provisional) P1 blood group (OMIM ID: 111410) 22q11.2-qter TCN2, TC2 (confirmed) Transcobalamin II (OMIM ID: 275350) 22q11.2-qter TST, RDS (provisional) Thiosulfate sulfurtransferase (Rhodanese) (OMIM ID: 180370) 22q11.21 BCR, CML, PHL (confirmed) Breakpoint cluster region (OMIM ID: 151410) 22q11.21 BCRL2 (provisional) Breakpoint cluster region-like 2 (OMIM ID: 113630) 22q11.21 BCRL3 (provisional) Breakpoint cluster region-like 3 (OMIM ID: 113640) 22q11.21 BCRL4 (provisional) Breakpoint cluster region-like 4 (OMIM ID: 113660) 22q11.21 VPREB1, IGI (confirmed) Pre-B lymphocyte-specific protein (immunoglobulin iota polypeptide) (OMIM ID: 146770) 22q11.21 VPREB2 (provisional) Pre-B lymphocyte-specific protein-2 (OMIM ID: 146771) 22q11.21-q13.31 ACO2 (confirmed) Aconitase, mitochondrial (OMIM ID: 100850) 22q12 ADTB1, BAM22 (provisional) Adaptin, beta (meningioma candidate) (OMIM ID: 600157) 22q12 EWSR1, EWS (confirmed) Ewing sarcoma breakpoint region-1 (OMIM ID: 133450) 22q12 GAR22 (provisional) GAS2-related on chromosome 22 (OMIM ID: 602128) 22q12 HMOX1 (confirmed) Heme oxygenase, decycling, 1 (OMIM ID: 141250) 22q12 MFNG (confirmed) Manic fringe (OMIM ID: 602577) 22q12 MTMR3 (confirmed) Myotubularin-related protein 3 (OMIM ID: 603558) 22q12 NIPSNAP1 (provisional) 4-nitrophenylphosphatase domain and nonneuronal SNAP25-like 1 (OMIM ID: 603249) 22q12 RRP22 (provisional) RAS-related on chromosome 22 (OMIM ID: 602220) 22q12 YWHAH, YWHA1 (confirmed) Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation (OMIM ID: 113508) 22q12-q13 CSNK1E (provisional) Casein kinase-1, epsilon (OMIM ID: 600863) 22q12-q13 DOM (tentative) Dominant megacolon, mouse, human homolog of (OMIM ID: 601669) 22q12-q13.1 LGALS1 (confirmed) Lectin, galactose-binding, soluble, 1 (OMIM ID: 150570) 22q12-q13.1 PVALB (confirmed) Parvalbumin (OMIM ID: 168890) 22q12.1 TPST2 (provisional) Tyrosylprotein phosphotransferase 2 (OMIM ID: 603126) 22q12.1-q12.2 LIF, HILDA (confirmed) Leukemia inhibitory factor (cholinergic differentiation factor) (OMIM ID: 159540) 22q12.1-q12.2 OSM (confirmed) Oncostatin M (OMIM ID: 165095) 22q12.1-q13.2 TIMP3, SFD (confirmed) Tissue inhibitor of metalloproteinase-3 (OMIM ID: 188826) 22q12.2 NEFH (confirmed) Neurofilament, heavy polypeptide (OMIM ID: 162230) 22q12.2 NF2 (confirmed) Neurofibromatosis-2 (bilateral acoustic neuroma); merlin (OMIM ID: 101000) 22q12.2-q13.1 CSF2RB (provisional) Colony-stimulating factor-2 receptor, beta, low-affinity (OMIM ID: 138981) 22q12.2-q13.1 GALR3 (provisional) Galanin receptor 3 (OMIM ID: 603692) 22q12.2-q13.3 DFNA17 (provisional) Deafness, autosomal dominant 17 (OMIM ID: 603622) 22q12.3 SMTN (provisional) Smoothelin (OMIM ID: 602127) 22q12.3 SYN3 (provisional) Synapsin III (OMIM ID: 602705) 22q12.3-q13.1 LARGE (provisional) Acetylglucosaminyltransferase-like protein (OMIM ID: 603590) 22q12.3-q13.1 PDGFB, SIS (confirmed) Platelet-derived growth factor, beta polypeptide (oncogene SIS) (OMIM ID: 190040) 22q12.3-q13.2 RAC2 (provisional) Ras-related C3 botulinum toxin substrate 3 (rho family, small (OMIM ID: 602049) 22q12.3-qter MGCR, MN1 (provisional) Meningioma chromosome region (OMIM ID: 156100) 22q13 EP300 (provisional) E1A-binding protein, 300kD (OMIM ID: 602700) 22q13 GAD3 (tentative) Glutamate decarboxylase-3 (OMIM ID: 138276) 22q13 SCA10 (provisional) Spinocerebellar ataxia 10 (OMIM ID: 603516) 22q13 SOX10, WS4 (confirmed) SRY (sex-determining region Y)-box-10 (OMIM ID: 602229) 22q13 SREBF2 (provisional) Sterol regulatory element binding transcription factor 2 (OMIM ID: 600481) 22q13 TEF (provisional) Thyrotroph embryonic factor (OMIM ID: 188595) 22q13 WNT7B (provisional) Wingless-type MMTV integration site family, member-7B (OMIM ID: 601967) 22q13-qter ACR (provisional) Acrosin (OMIM ID: 102480) 22q13.1 ADSL (confirmed) Adenylosuccinate lyase (OMIM ID: 103050) 22q13.1 CYP2D@, CYP2D, P450C2D (confirmed) Cytochrome P450, subfamily IID (OMIM ID: 124030) 22q13.1 H1F0, H1FV (provisional) H1 histone family, member 0 (OMIM ID: 142708) 22q13.1 KCNJ4, HIR (provisional) Potassium inwardly-rectifying channel, subfamily J, member 4 (OMIM ID: 600504) 22q13.1 MCM5, CDC46 (provisional) Minichromosome maintenance, S. cerevisiae, homolog of, 5 (OMIM ID: 602696) 22q13.1 NCF4, P40PHOX (provisional) Neutrophil cytosolic factor-4 (OMIM ID: 601488) 22q13.1 NDUFA6 (confirmed) NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (OMIM ID: 602138) 22q13.1 PMM1 (provisional) Phosphomannomutase 1 (OMIM ID: 601786) 22q13.1 SLC5A1, SGLT1 (confirmed) Solute carrier family 5 (sodium/glucose transporter), member 1 (OMIM ID: 182380) 22q13.1 SSTR3 (confirmed) Somatostatin receptor-3 (OMIM ID: 182453) 22q13.3 FBLN1 (confirmed) Fibulin 1 (OMIM ID: 135820) 22q13.3 NMI (provisional) NMYC interactor (OMIM ID: 603525) 22q13.3 SAPK3, ERK3 (provisional) Stress-activated protein kinase-3 (OMIM ID: 602399) 22q13.3 TCF20, SPBP, AR1 (provisional) Transcription factor 20 (OMIM ID: 603107) 22q13.31 BZRP (confirmed) Benzodiazepine receptor, peripheral type (benzodiazepine peripheral (OMIM ID: 109610) 22q13.31-qter ARSA (confirmed) Arylsulfatase A (OMIM ID: 250100) 22q13.31-qter DIA1 (confirmed) Diaphorase (NADH); cytochrome b-5 reductase (OMIM ID: 250800) 22q13.32-qter ECGF1 (confirmed) Endothelial cell growth factor-1, platelet-derived (OMIM ID: 131222) 22qter CPT1B (provisional) Carnitine palmitoyltransferase I, muscle (OMIM ID: 601987) 22qter SBF1, MTMR5 (provisional) SET-binding factor 1 (myotubularin-related protein 5) (OMIM ID: 603560) C Chr.22 MSK41 (provisional) Antigen MSK41 identified by monoclonal antibody E3 (OMIM ID: 107260) X Xpter-p22.32 ARSC2 (tentative) Arylsulfatase C, f form (OMIM ID: 301780) Xpter-p22.32 ASMT, HIOMT (provisional) Acetylserotonin methyltransferase (OMIM ID: 300015) Xpter-p22.32 ASMTLX, ASTML (provisional) Acetylserotonin methyltransferase-like (OMIM ID: 300162) Xpter-p22.32 SHOX, GCFX, SS, PHOG (confirmed) Growth control factor, X-linked (pseudoautosomal homeo box-containing (OMIM ID: 312865) Xpter-p22.32 MIC2, MIC2X, CD99 (confirmed) MIC2 (monoclonal antibody 12E7) (OMIM ID: 313470) Xpter-p22.32 XG (confirmed) Xg blood group (OMIM ID: 314700) Xp22.33 PGPL (provisional) Pseudoautosomal GTP-binding protein-like (OMIM ID: 300124) Xp22.32 ANT3 (confirmed) Adenine nucleotide translocator-3 (liver) (OMIM ID: 300151) Xp22.32 CSF2RA (confirmed) Colony-stimulating factor-2 receptor, alpha, low-affinity (OMIM ID: 306250) Xp22.32 DXF68S1E, GS1 (provisional) DNA segment, numerous copies, expressed probes (GS1 gene) (OMIM ID: 306480) Xp22.32 DXYS155E, XE7 (provisional) DNA segment, single copy, homologous on X and Y, expressed probes (OMIM ID: 312095) Xp22.3 MRX49 (confirmed) Mental retardation, X-linked-49 (OMIM ID: 300114) Xp22.32 STS, ARSC1, SSDD (confirmed) Steroid sulfatase, microsomal (OMIM ID: 308100) Xp22.32 XGR (provisional) XG/MIC2 regulator (OMIM ID: 314705) Xp22.31 FIGF, VEGFD (provisional) c-fos induced growth factor (vascular endothelial growth factor D) (OMIM ID: 300091) Xp22.31 MLS, MIDAS (provisional) Microphthalmia with linear skin defects (OMIM ID: 309801) Xp22.3 APXL (provisional) Apical protein, Xenopus laevis-like (OMIM ID: 300103) Xp22.3 ARHGAP6 (provisional) Rho GTPase-activating protein-6 (OMIM ID: 300118) Xp22.3 ARSE, CDPX1, CDPXR (confirmed) Arylsulfatase E (OMIM ID: 300180) Xp22.3 ARSD (provisional) Arylsulfatase D (OMIM ID: 300002) Xp22.3 ARSF (provisional) Arylsulfatase F (OMIM ID: 300003) Xp22.3 CLCN4 (provisional) Chloride channel-4 (OMIM ID: 302910) Xp22.3 DXS1283E (provisional) GS2 gene (OMIM ID: 300102) Xp22.3 HYR (provisional) H-Y regulator, or repressor (OMIM ID: 306970) Xp22.3 IL3RA (confirmed) Interleukin-3 receptor, alpha subunit (OMIM ID: 308385) Xp22.3 KAL1, KMS, ADMLX (confirmed) Kallmann syndrome-1 sequence (anosmin-1) (OMIM ID: 308700) Xp22.3 OA1 (confirmed) Ocular albinism-1, Nettleship-Falls type (OMIM ID: 300500) Xp22.3 OASD (provisional) Ocular albinism and sensorineural deafness (OMIM ID: 300650) Xp22.3 PRKX (provisional) Protein kinase, X-linked (OMIM ID: 300083) Xp22.3 ZNFXY, FXY (confirmed) Zinc finger X and Y (OMIM ID: 300122) Xp22.3-p22.2 PRPS2 (confirmed) Phosphoribosyl pyrophosphate synthetase-2 (OMIM ID: 311860) Xp22.3-p22.1 AMELX, AMG, AIH1, AMGX (confirmed) Amelogenin (OMIM ID: 301200) Xp22.3-p21.3 MRX29 (provisional) Mental retardation, X-linked-29 (OMIM ID: 300077) Xp22.3-p21.2 GRPR (confirmed) Gastrin-releasing peptide receptor (OMIM ID: 305670) Xp22.3-p22.2 OFD1 (confirmed) Oral-facial-digital syndrome 1 (OMIM ID: 311200) Xp22.3-p21.1 NHS (confirmed) Nance-Horan cataract-dental syndrome (OMIM ID: 302350) Xp22.3-p21.1 POLA (confirmed) Polymerase (DNA directed), alpha (OMIM ID: 312040) Xp22.2 BMX (provisional) BMX non-receptor tyrosine kinase (OMIM ID: 300101) Xp22.2 CMTX2 (provisional) Charcot-Marie-Tooth disease, X-linked-2, recessive (OMIM ID: 302801) Xp22.2 FCP1, FCPX, FCP (provisional) F-cell production 1 (OMIM ID: 305435) Xp22.2 GPM6B, M6B (provisional) Glycoprotein M6B (OMIM ID: 300051) Xp22.2-p21.3 ZFX (confirmed) Zinc finger protein, X-linked (OMIM ID: 314980) Xp22.2-p22.13 KFSD (confirmed) Keratosis follicularis spinulosa decalvans (OMIM ID: 308800) Xp22.2-p22.1 CND (tentative) Corneal dermoids (OMIM ID: 304730) Xp22.2-p22.1 EIF2S3, EIF2G (provisional) Eukaryotic translation initiation factor 2, subunit 3 (OMIM ID: A, H) Xp22.2-p22.1 PDHA1, PHE1A (confirmed) Pyruvate dehydrogenase, E1-alpha polypeptide-1 (OMIM ID: 312170) Xp22.2-p22.1 PHEX, HYP, HPDR1 (confirmed) Phosphate regulating gene with homologies to endopeptidases on the X (OMIM ID: 307800) Xp22.2-p22.1 PHKA2, PHK (confirmed) Phosphorylase kinase deficiency, liver (glycogen storage disease (OMIM ID: 306000) Xp22.2-p22.1 PPEF1 (provisional) Protein phosphatase, EF hand calcium-binding domain 1 (OMIM ID: 300109) Xp22.2-p22.1 PRTS, MRXS1 (provisional) Partington syndrome (mental retardation, X-linked, syndromic-1, with (OMIM ID: 309510) Xp22.2-p22.1 RPS6KA3, RSK2, MRX19 (confirmed) Ribosomal protein S6 kinase, 90kD, polypeptide 3 (OMIM ID: 300075) Xp22.2-p22.1 RS1, XLRS1 (confirmed) Retinoschisis (OMIM ID: 312700) Xp22.2-p22.1 SEDL, SEDT (confirmed) Sedlin (OMIM ID: 300202) Xp22.13-p22.11 RP15 (provisional) Retinitis pigmentosa-15 (OMIM ID: 300029) Xp22.13-p21.1 MEHMO (provisional) MEHMO syndrome (Mental retardation, epileptic seizures, hypogonadism (OMIM ID: 300148) Xp22.11-p21.2 GDXY, TDFX, SRVX (provisional) Gonadal dysgenesis, XY female type (OMIM ID: 306100) Xp22.1 PIGA (provisional) Phosphatidylinositol glycan, class A (OMIM ID: 311770) Xp22.1 SAT (provisional) Spermidine/spermine N1-acetyltransferase (OMIM ID: 313020) Xp22.1 SMS (provisional) Spermine synthase (OMIM ID: 300105) Xp22.1 U2AF1RS2 (provisional) U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2 (OMIM ID: 300028) Xp22.1-p21.3 ISSX (confirmed) Infantile spasm syndrome, X-linked (OMIM ID: 308350) Xp22.1-p21.3 MRX21 (provisional) Mental retardation, X-linked, 21 (OMIM ID: 300143) Xp22.1-p21.2 GLRA2 (provisional) Glycine receptor, alpha-2 polypeptide (OMIM ID: 305990) Xp22.1-p11 ZNF81 (provisional) Zinc finger protein-81 (HFZ20) (OMIM ID: 314998) Xp22.1-cen ZNF41 (provisional) Zinc finger protein-41 (OMIM ID: 314995) Xp22 AGMX2, XLA2, IMD6 (provisional) Agammaglobulinemia, X-linked 2 (with growth hormone deficiency) (OMIM ID: 300310) Xp22 AIC (confirmed) Aicardi syndrome (OMIM ID: 304050) Xp22 CFNS, CFND (confirmed) Craniofrontonasal syndrome (OMIM ID: 304110) Xp22 DFN6 (provisional) Deafness, X-linked 6, sensorineural (OMIM ID: 300066) Xp22 HCCS (provisional) Holocytochrome c synthase (cytochrome c heme-lyase) (OMIM ID: 300056) Xp22 MRX1 (confirmed) Mental retardation, X-linked-1, non-dysmorphic (OMIM ID: 309530) Xp22 MID1, OGS1, BBBG1, GBBB1, OSX (confirmed) Midline-1 (OMIM ID: 300000) Xp22-p21 PDR (provisional) Pigment disorder, reticulate (OMIM ID: 301220) Xp21.3 DAM6 (provisional) DSS/AHC critical interval gene, from MAGE superfamily, 6 (OMIM ID: 300098) Xp21.3 MAGEL1, DAM10 (provisional) MAGE-like gene (OMIM ID: 300097) Xp21.3 MAGEB3 (provisional) Melanoma antigen, family B, 3 (OMIM ID: 300152) Xp21.3 MAGEB4 (provisional) Melanoma antigen, family B, 4 (OMIM ID: 300153) Xp21.3-p21.2 AHC, DAX1, AHX, DSS (confirmed) Adrenal hypoplasia, congenital (OMIM ID: 300200) Xp21.3-p21.2 GK (confirmed) Glycerol kinase deficiency (OMIM ID: 307030) Xp21.3-p21.2 RP6 (tentative) Retinitis pigmentosa-6 (X-linked recessive) (OMIM ID: 312612) Xp21.2 DFN4 (provisional) Deafness 4, congenital sensorineural (OMIM ID: 300030) Xp21.2 DMD, BMD (confirmed) Dystrophin (muscular dystrophy, Duchenne and Becker types) (OMIM ID: 310200) Xp21.2-p21.1 XK (confirmed) Kell blood group precursor (OMIM ID: 314850) Xp21.2-p11.2 USP11, UHX1 (provisional) Ubiquitin-specific protease-11 (ubiquitin carboxyl-terminal hydrolase) (OMIM ID: 300050) Xp21.2-q21.1 XS, LUXS (tentative) Lutheran suppressor, X-linked (OMIM ID: 309050) Xp21.1 CYBB, CGD (confirmed) Cytochrome b-245, beta polypeptide (OMIM ID: 306400) Xp21.1 OTC (confirmed) Ornithine transcarbamylase (OMIM ID: 311250) Xp21.1 SRPX, RP3 (confirmed) Sushi-repeat-containing protein, X chromosome (OMIM ID: 312610) Xp21.1-q22 WTS, MRXS6 (provisional) Wilson-Turner syndrome (mental retardation, X-linked, syndromic-6, (OMIM ID: 309585) Xp21 GTD (tentative) Gonadotropin deficiency (OMIM ID: 306190) Xp21 SRS, MRSR (provisional) Snyder-Robinson X-linked mental retardation syndrome (OMIM ID: 309583) Xp21-q13 MRX9 (provisional) Mental retardation, X-linked-9 (OMIM ID: 309549) Xp11.4 CASK (provisional) Calcium/calmodulin-dependent serine protein kinase (OMIM ID: 300172) Xp11.4 COD1, PCDX (confirmed) Cone dystrophy-1 (X-linked) (OMIM ID: 304020) Xp11.4 NDP, ND (confirmed) Norrie disease (norrin) (OMIM ID: 310600) Xp11.4 USP9X, DFFRX (provisional) Ubiquitin-specific protease-9, X chromosome (Drosophila fat facets (OMIM ID: 300072) Xp11.4-p11.3 CSNB1 (confirmed) Congenital stationary night blindness-1 (CSNB, complete) (OMIM ID: 310500) Xp11.4-p11.23 AIED, OA2 (confirmed) Aland island eye disease (ocular albinism, Forsius-Eriksson type) (OMIM ID: 300600) Xp11.4-p11.23 PFC, PFD (confirmed) Properdin P factor, complement (OMIM ID: 312060) Xp11.4-p11.21 OPA2 (provisional) Optic atrophy, X-linked (OMIM ID: 311050) Xp11.4-p11.2 ARAF1, RAFA1, PKS2 (confirmed) Oncogene ARAF1 (OMIM ID: 311010) Xp11.4-p11.2 CXorf4, TRAP170, EXLM1 (provisional) Thyroid hormone receptor-associated protein (OMIM ID: 300182) Xp11.4-p11.2 RENS1, MRXS8 (provisional) Renpenning syndrome-1 (OMIM ID: 309500) Xp11.4-p11.2 SYN1 (confirmed) Synapsin I (OMIM ID: 313440) Xp11.3 RP2 (confirmed) Retinitis pigmentosa-2 (X-linked recessive) (OMIM ID: 312600) Xp11.3-p11.23 DDX3, DBX (provisional) DEAD/H box-3 (OMIM ID: 300160) Xp11.3-p11.23 OATL1 (confirmed) Ornithine aminotransferase-like 1 (OMIM ID: 311240) Xp11.3-p11.23 PCTK1 (confirmed) PCTAIRE protein kinase 1 (OMIM ID: 311550) Xp11.3-p11.23 TIMP1, TIMP, EPA (confirmed) Erythroid-potentiating activity (tissue inhibitor of (OMIM ID: 305370) Xp11.3-p11.21 MRX50 (provisional) Mental retardation, X-linked nonspecific, type 50 (OMIM ID: 300115) Xp11.3-q11.2 AMCX1 (provisional) Arthrogryposis multiplex congenita, X-linked (spinal muscular atrophy, (OMIM ID: 301830) Xp11.3-q13.3 MRX14 (provisional) Mental retardation, X-linked-14 (OMIM ID: 300062) Xp11.23 CACNA1F, CSNB2 (provisional) Calcium channel, voltage-dependent, alpha-1F subunit (OMIM ID: 300110) Xp11.23 GATA1, GF1, ERYF1, NFE1 (confirmed) GATA-binding protein-1 (globin transcription factor-1) (OMIM ID: 305371) Xp11.23 DXS8237E, KIAA0122 (provisional) RNA-binding protein S1-1, human homolog of (OMIM ID: 300080) Xp11.23 MAOA (confirmed) Monoamine oxidase A (OMIM ID: 309850) Xp11.23 MAOB (confirmed) Monoamine oxidase B (OMIM ID: 309860) Xp11.23 RBM3 (provisional) RNA binding motif protein 3 (OMIM ID: 300027) Xp11.23 UBE1, GXP1, A1ST (confirmed) Ubiquitin-activating enzyme E1 (teA1S9) (OMIM ID: 314370) Xp11.23-p11.22 LMO6 (provisional) LIM domain only 6 (OMIM ID: 300111) Xp11.23-p11.22 SYP (provisional) Synaptophysin (OMIM ID: 313475) Xp11.23-p11.22 UGALT, UGTL (provisional) UDP-galactose translocator (OMIM ID: 314375) Xp11.23-p11.22 WAS, IMD2, THC (confirmed) Wiskott-Aldrich syndrome (OMIM ID: 301000) Xp11.22 CLCN5, CLCK2, NPHL2, DENTS (confirmed) Chloride channel-5 (OMIM ID: 300008) Xp11.22 TFE3 (provisional) Transcription factor for IgH enhancer (OMIM ID: 314310) Xp11.22-p11.21 DXS1272E, XE169, SMCX (confirmed) XE169 gene (selected mouse cDNA on X, human homolog of) (OMIM ID: 314690) Xp11.22-p11.21 DXS423E, SMC1 (provisional) Segregation of mitotic chromosomes 1 (SMC1, yeast human homolog of; (OMIM ID: 300040) Xp11.22-p11.21 OATL2 (confirmed) Ornithine aminotransferase-like 2 (OMIM ID: 311241) Xp11.22-p11.21 TRO (provisional) Trophinin (OMIM ID: 300132) Xp11.21 ALAS2, ASB, ANH1 (confirmed) Aminolevulinate, delta-, synthase-2 (OMIM ID: 301300) Xp11.21 FGD1, FGDY, AAS (confirmed) Faciogenital dysplasia (Aarskog-Scott syndrome) (OMIM ID: 305400) Xp11.2 ELK1 (confirmed) ELK1, member of ETS oncogene family (OMIM ID: 311040) Xp11.2 RCCP2 (confirmed) Renal cell carcinoma, papillary (OMIM ID: 312390) Xp11.2 SSX1, SSRC (confirmed) Synovial sarcoma, X breakpoint 1 (OMIM ID: 312820) Xp11.2 UTX (provisional) Ubiquitously-transcribed TPR gene on X chromosome (OMIM ID: 300128) Xp11.2 ZNF157 (confirmed) Zinc finger protein-157 (HZF22) (OMIM ID: 300024) Xp11 IDDMX (provisional) Diabetes mellitus, insulin-dependent, X-linked, susceptibility to (OMIM ID: 300136) Xp11 MRXA (tentative) Mental retardation, X-linked nonspecific, with aphasia (OMIM ID: 309545) Xp11-q11 ACTL1 (provisional) Actin-like sequence-1 (OMIM ID: 300020) Xp11-q21 MRX20 (provisional) Mental retardation, X-linked-20 (OMIM ID: 300047) Xp11-q21 PRS, MRXS2 (provisional) Prieto syndrome (mental retardation, X-linked, syndromic-2, with (OMIM ID: 309610) Xp11-q21.3 SHS, MRXS3 (provisional) Sutherland-Haan syndrome (mental retardation, X-linked, syndromic-3, (OMIM ID: 309470) Xp CALB3, CABP9K (provisional) Calbindin 3 (vitamin D-dependent calcium-binding protein) (OMIM ID: 302020) Xp CCT (tentative) Cataracts, congenital total (OMIM ID: 302200) Xp SMAX2 (provisional) Spinal muscular atrophy, X-linked lethal infantile (OMIM ID: 300021) Xcen-q13 PFKFB1, PFRX (provisional) Fructose-2,6-bisphosphatase (OMIM ID: 311790) Xcen-q21 ARR3 (provisional) Arrestin 3, retinal (OMIM ID: 301770) Xq CGF1 (provisional) Cognitive function-1, social (OMIM ID: 300082) Xq DXS435E, A11 (provisional) A-11 gene (OMIM ID: 300010) Xq MFTS (provisional) Migraine, familial typical, susceptibility to (OMIM ID: 300125) Xq11 TM4SF2, MXS1, A15 (provisional) Transmembrane 4 superfamily, member 2 (OMIM ID: 300096) Xq11-q12 AR, DHTR, TFM, SBMA, KD (confirmed) Androgen receptor (dihydrotestosterone receptor) (OMIM ID: 313700) Xq11.2-q12 MSN (provisional) Moesin (OMIM ID: 309845) Xq12 EFNB1, EPLG2 (provisional) eph-related receptor tyrosine kinase ligand 2 (ephrin B1) (OMIM ID: 300035) Xq12 OPHN1 (provisional) Oligophrenin-1 (OMIM ID: 300127) Xq12-q13 ATP7A, MNK, MK, OHS (confirmed) ATPase, Cu++ transporting, alpha polypeptide (OMIM ID: 300011) Xq12-q13.1 ED1, EDA, HED (confirmed) Ectodermal dysplasia-1, anhidrotic (OMIM ID: 305100) Xq12-q21.31 FGS1 (confirmed) FG syndrome 1 (OMIM ID: 305450) Xq13 ATRX, XH2, XNP (confirmed) Helicase 2 (X-linked nuclear protein; ATR-X gene) (OMIM ID: 300032) Xq13 IL2RG, SCIDX1, SCIDX, IMD4 (confirmed) Interleukin-2 receptor, gamma (OMIM ID: 308380) Xq13 P2RY4, NRU, P2Y4 (provisional) Pyrimidinergic receptor P2Y, G-protein coupled, 4 (OMIM ID: 300038) Xq13 PGK1, PGKA (confirmed) Phosphoglycerate kinase-1 (OMIM ID: 311800) Xq13 PHKA1 (confirmed) Phosphorylase kinase, muscle, alpha polypeptide (OMIM ID: 311870) Xq13 TAF2A, CCG1, BA2R (confirmed) TATA box binding protein (TBP)-associated factor, RNA polymerase II, (OMIM ID: 313650) Xq13-q21 CHR39C (provisional) Cholesterol repressible protein 39C (OMIM ID: 302920) Xq13-q21 VDAC1 (provisional) Voltage-dependent anion channel 1 (OMIM ID: 314555) Xq13-q21 WWS (provisional) Wieacker-Wolff syndrome (OMIM ID: 314580) Xq13-q21.1 GPR23 (provisional) G protein-coupled receptor-23 (OMIM ID: 300086) Xq13-q22 MCS, MRXS4 (provisional) Miles-Carpenter syndrome (mental retardation, X-linked, syndromic-4, (OMIM ID: 309605) Xq13.1 DLG3, NEDLG (provisional) Discs large, drosophila, homolog of, 3 (OMIM ID: 300189) Xq13.1 DXS6673E (provisional) Mental retardation, X-linked (OMIM ID: 300061) Xq13.1 DYT3 (confirmed) Torsion dystonia-parkinsonism, Filipino type (OMIM ID: 314250) Xq13.1 GJB1, CX32, CMTX1 (confirmed) Gap junction protein, beta-1, 32kD (connexin 32) (OMIM ID: 304040) Xq13.1 MLLT7, AFX1 (confirmed) Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) (OMIM ID: 300033) Xq13.1 MSG1 (provisional) Melanocyte-specific gene 1 (OMIM ID: 300149) Xq13.1 NRB54 (confirmed) Nuclear RNA-binding protein, 54-kD (OMIM ID: 300084) Xq13.1 RPS4X, CCG2, SCAR (confirmed) Ribosomal protein S4, X-linked (OMIM ID: 312760) Xq13.1-q13.3 ABC7, ASAT (provisional) ATP-binding cassette-7 (OMIM ID: 300135) Xq13.1-q13.3 IGBP1 (provisional) Immunoglobulin-binding protein 1 (OMIM ID: 300139) Xq13.2 CDX4 (provisional) Caudal type homeo box transcription factor 4 (OMIM ID: 300025) Xq13.2 SLC16A2, DXS128, XPCT (provisional) Solute carrier family 16 (monocarboxylic acid transporters), (OMIM ID: 300095) Xq13.2 TSIX (provisional) X-inactivation-specific transcript-antisense (OMIM ID: 300181) Xq13.2 XIC, XCE, XIST (confirmed) X chromosome controlling element (X-inactivation center) (OMIM ID: 314670) Xq13.3 SH3BGR (provisional) SH3-binding domain glutamic acid-rich protein-like (OMIM ID: 300190) Xq21 AHDS (provisional) Allan-Herndon-Dudley mental retardation syndrome (OMIM ID: 309600) Xq21 POF1, POF (provisional) Premature ovarian failure-1 (OMIM ID: 311360) Xq21-q22 FDPSL5, FPSL5 (provisional) Farnesyl diphosphate synthase-like 5 (farnesyl pyrophosphate (OMIM ID: 305425) Xq21.1 POU3F4, DFN3 (provisional) POU domain, class 3, transcription factor 4 (OMIM ID: 300039) Xq21.1-q21.3 ZNF6, CMPX1 (provisional) Zinc finger protein-6 (OMIM ID: 314990) Xq21.2-q24 ARTS (provisional) Arts syndrome (OMIM ID: 301835) Xq21.2 CHM, TCD (confirmed) Choroideremia (OMIM ID: 303100) Xq21.3 CPX (confirmed) Cleft palate and/or ankyloglossia (OMIM ID: 303400) Xq21.3 PRKCI (provisional) Protein kinase C, iota (OMIM ID: 300094) Xq21.3-q22 BTK, AGMX1, IMD1, XLA, AT (confirmed) Bruton agammaglobulinemia tyrosine kinase (OMIM ID: 300300) Xq21.3-q22 MGC1, MGCN (provisional) Megalocornea-1, X-linked (OMIM ID: 309300) Xq21.3-q22 NAP1L3 (provisional) Nucleosome assembly protein 1-like 3 (OMIM ID: 300117) Xq21.3-q22 TMSB4X, TMSB4, TB4X, PTMB4 (provisional) Thymosin, beta-4, X chromosome (OMIM ID: 300159) Xq21.3-q24 PAK3 (confirmed) p21-activated kinase-3 (OMIM ID: 300142) Xq22 COL4A5, ATS, ASLN (confirmed) Collagen IV, alpha-5 polypeptide (OMIM ID: 303630) Xq22 COL4A6 (confirmed) Collagen IV, alpha-6 polypeptide (OMIM ID: 303631) Xq22 DFN1, DDP, MTS, DDP1 (confirmed) Deafness 1, progressive (deafness/dystonia peptide) (OMIM ID: 304700) Xq22 DFN2 (provisional) Deafness, X-linked 2, perceptive, congenital (OMIM ID: 304500) Xq22 DIAPH2, DIA (confirmed) Diaphanous, Drosophila, homolog of, 2 (OMIM ID: 300108) Xq22 DRP2 (provisional) Dystrophin-related protein 2 (OMIM ID: 300052) Xq22 EFMR (provisional) Epilepsy, female restricted, with mental retardation (Juberg-Hellman (OMIM ID: 300088) Xq22 FSHPRH1, LRPR1 (provisional) FSH primary response (LRPR1, rat) homolog 1 (OMIM ID: 300065) Xq22 GLA (confirmed) Galactosidase, alpha (OMIM ID: 301500) Xq22 GUCY2F, GUC2F (provisional) Guanylate cyclase 2F (OMIM ID: 300041) Xq22 PLP, PMD (confirmed) Proteolipid protein; Pelizaeus-Merzbacher disease (OMIM ID: 312080) Xq22 TM4SF6 (provisional) Transmembrane 4 superfamily, member 6 (OMIM ID: 300191) Xq22-q23 AGTR2 (confirmed) Angiotensin receptor 2 (OMIM ID: 300034) Xq22-q24 PRPS1 (confirmed) Phosphoribosyl pyrophosphate synthetase-1 (OMIM ID: 311850) Xq22-q28 AIH3 (tentative) Amelogenesis imperfecta-3, hypomaturation or hypoplastic type (OMIM ID: 301201) Xq22-q28 MYCL2 (provisional) MYCL-related processed gene (OMIM ID: 310310) Xq22.1 TCEAL1, P21, SIIR (provisional) Transcription elongation factor A-like 1 (OMIM ID: 603789) Xq22.2 TBG (confirmed) Thyroxine-binding globulin (OMIM ID: 314200) Xq22.3 AMMECR1 (provisional) Alport syndrome, mental retardation, midface hypoplasia, and (OMIM ID: 300195) Xq22.3 FACL4, ACS4 (confirmed) Fatty acid coenzyme A ligase, long-chain 4 (OMIM ID: 300157) Xq22.3 PPP6C (provisional) Protein phosphatase 6, catalytic subunit (OMIM ID: 300141) Xq22.3-q23 DCX, DBCN, LISX (confirmed) Doublecortin (OMIM ID: 300121) Xq23-q24 MRX23 (provisional) Mental retardation, X-linked-23 (OMIM ID: 300046) Xq24 HTR2C (confirmed) 5-hydroxytryptamine (serotonin) receptor-2C (OMIM ID: 312861) Xq24 IL13RA2 (provisional) Interleukin-13 receptor, alpha-2 (OMIM ID: 300130) Xq24 LAMP2 (confirmed) Lysosome-associated membrane protein-2 (OMIM ID: 309060) Xq24 NDUFA1, MWFE (provisional) NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD) (OMIM ID: 300078) Xq24-q25 UBE2A, RAD6A (provisional) Ubiquitin-conjugating enzyme E2A (RAD6 homolog) (OMIM ID: 312180) Xq24-q26 ANT2 (confirmed) Adenine nucleotide translocator-2 (fibroblast) (OMIM ID: 300150) Xq24-q26.1 NAMSD, CMT2D, NADMR (provisional) Neuropathy, axonal motor-sensory, with deafness and mental retardation (OMIM ID: 310490) Xq24-q27 BZX (provisional) Bazex syndrome (OMIM ID: 301845) Xq24-q27.1 HTC2, HCG, CGH (provisional) Hypertrichosis, congenital generalized (OMIM ID: 307150) Xq24-q27.1 MRGH (confirmed) Mental retardation with isolated growth hormone deficiency (OMIM ID: 300123) Xq25 API3, XIAP (provisional) Apoptosis inhibitor-3 (OMIM ID: 300079) Xq25 GLUD2 (confirmed) Glutamate dehydrogenase-2 (OMIM ID: 300144) Xq25 HDGF (provisional) Hepatoma-derived growth factor (OMIM ID: 300043) Xq25 IGSF1, IGDC1 (provisional) Immunoglobulin superfamily, member 1 (OMIM ID: 300137) Xq25 SH2D1A, LYP, IMD5, XLP, XLPD (confirmed) SH2 domain protein 1A (OMIM ID: 308240) Xq25 XPNPEP2 (provisional) X-prolyl aminopeptidase 2 (aminopeptidase P) (OMIM ID: 300145) Xq25-q26 GRIA3, GLUR3 (provisional) Glutamate receptor, ionotropic, AMPA 3 (OMIM ID: 305915) Xq25-q26 PDCD8, AIF (provisional) Programmed cell death 8 (apoptosis-inducing factor) (OMIM ID: 300169) Xq25-q26 PHP, GHDX, PHPX (provisional) Panhypopituitarism, X-linked (OMIM ID: 312000) Xq25-q26 SXI2 (provisional) X inactivation, familial skewed, 2 (OMIM ID: 300179) Xq25-q26.1 THAS, TAS (provisional) Thoracoabdominal syndrome (OMIM ID: 313850) Xq25-q27 PGS, MRXS5 (provisional) Pettigrew syndrome (mental retardation, X-linked, with Dandy-Walker (OMIM ID: 304340) Xq26 GPC3, SDYS, SGB (confirmed) Glypican 3 (OMIM ID: 300037) Xq26 GPC4 (provisional) Glypican 4 (OMIM ID: 300168) Xq26 GUST (provisional) Gustavson mental retardation syndrome (with microcephaly, optic (OMIM ID: 309555) Xq26 RBMX (provisional) RNA-binding motif protein, X chromosome (OMIM ID: 300199) Xq26 SHFM2, SHFD2 (provisional) Split hand/foot malformation, type (ectrodactyly) 2 (OMIM ID: 313350) Xq26 TNFSF5, CD40LG, HIGM1, IGM (confirmed) Tumor necrosis factor ligand superfamily, member 5 (OMIM ID: 308230) Xq26 ZNF75 (provisional) Zinc finger protein-75 (OMIM ID: 314997) Xq26-q27 HPT, HPTX, HYPX (provisional) Hypoparathyroidism (OMIM ID: 307700) Xq26-q27 NYS1 (inconsistent) Nystagmus 1, congenital (OMIM ID: 310700) Xq26-q27 RP24 (provisional) Retinitis pigmentosa-24 (OMIM ID: 300155) Xq26-q27 SOX3 (provisional) SRY (sex determining region Y)-box 3 (OMIM ID: 313430) Xq26-q27.2 HPRT1, HPRT (confirmed) Hypoxanthine phosphoribosyltransferase 1 (OMIM ID: 308000) Xq26-q28 BRS3 (provisional) Bombesin-like receptor 3 (OMIM ID: 300107) Xq26-qter INDX (provisional) Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury (OMIM ID: 300076) Xq26.1 OCRL, LOCR, OCRL1 (confirmed) Oculocerebrorenal syndrome of Lowe (OMIM ID: 309000) Xq26.1 SMARCA1, SNF2L1 (provisional) SWI/SNF related, matrix associated, actin dependent regulator of (OMIM ID: 300012) Xq26.2 ZIC3, HTX1, HTX (confirmed) Zic family member-3 (OMIM ID: 306955) Xq26.3 FGF13, FGF2 (confirmed) Fibroblast growth factor-13 (OMIM ID: 300070) Xq26.3-q27.1 ADFN, ALDS (provisional) Albinism-deafness syndrome (OMIM ID: 300700) Xq27 COD2 (provisional) Cone dystrophy-2 (X-linked) (OMIM ID: 300085) Xq27 MCF2, DBL (confirmed) Oncogene MCF2 (oncogene DBL) (OMIM ID: 311030) Xq27-q28 ANOP1 (tentative) Anophthalmos-1 (with mental retardation but without anomalies) (OMIM ID: 301590) Xq27-q28 HPCX (provisional) Prostate cancer, hereditary, X-linked (OMIM ID: 300147) Xq27.1-q27.2 CDR1, CDR62A (confirmed) Cerebellar degeneration-related protein-1 (34kD) (OMIM ID: 302650) Xq27.1-q27.2 F9, HEMB (confirmed) Coagulation factor IX (plasma thromboplastic component) (OMIM ID: 306900) Xq27.2 FHL1, SLIM1 (confirmed) Four-and-a-half LIM domains 1 (OMIM ID: 300163) Xq27.3 FMR1, FRAXA (confirmed) Fragile X mental retardation-1 (OMIM ID: 309550) Xq27.3-qter EBM (provisional) Epidermolysis bullosa, macular type (OMIM ID: 302000) Xq28 ALD (confirmed) Adrenoleukodystrophy (OMIM ID: 300100) Xq28 DXS707, ARD1 (provisional) N-acetyltransferase ARD1, human homolog of (OMIM ID: 300013) Xq28 ATP2B3, PMCA3 (provisional) ATPase, Ca++ transporting, plasma membrane, 3 (OMIM ID: 300014) Xq28 AVPR2, DIR, DI1, ADHR (confirmed) Arginine vasopressin receptor-2 (nephrogenic diabetes insipidus) (OMIM ID: 304800) Xq28 BGN (confirmed) Biglycan (OMIM ID: 301870) Xq28 CALT (provisional) Caltractin (OMIM ID: 300006) Xq28 CBBM, BCM (confirmed) Blue-monochromatic colorblindness (blue cone monochromacy) (OMIM ID: 303700) Xq28 CTAG (provisional) Cancer/testis antigen (OMIM ID: 300156) Xq28 CVD1, XMVD (provisional) Cardiac valvular dysplasia-1 (myxomatous valvular dystrophy, X-linked) (OMIM ID: 314400) Xq28 DKC1, DKC (confirmed) Dyskerin (OMIM ID: 300126) Xq28 DNASE1L1, DNL1L (provisional) Deoxyribonuclease I-like 1 (OMIM ID: 300081) Xq28 DXS522E, F8B (provisional) DNA segment, single copy, expressed probes, intron 22 probe, F8B (OMIM ID: 305424) Xq28 DXS648, QM (confirmed) QM gene (OMIM ID: 312173) Xq28 EMD, EDMD (confirmed) Emery-Dreifuss muscular dystrophy (OMIM ID: 310300) Xq28 F8A (confirmed) Factor VIII associated gene (OMIM ID: 305423) Xq28 F8C, HEMA (confirmed) Coagulation factor VIIIc, procoagulant component (OMIM ID: 306700) Xq28 F18 (provisional) F18 gene (OMIM ID: 300120) Xq28 FLNA, FLN1, ABPX, NHBP (confirmed) Filamin A, alpha (actin-binding protein-280) (OMIM ID: 300017) Xq28 FMR2, FRAXE, MRX2 (provisional) Fragile site, X-linked, E (OMIM ID: 309548) Xq28 FRAXF (provisional) Fragile site, folic acid type, rare, fra(X)(q28) (OMIM ID: 300031) Xq28 G6PD, G6PD1 (confirmed) Glucose-6-phosphate dehydrogenase (OMIM ID: 305900) Xq28 GABRA3 (confirmed) Gamma-aminobutyric acid (GABA) A receptor, alpha-3 (OMIM ID: 305660) Xq28 GABRE (provisional) Gamma-aminobutyric acid (GABA) A receptor, epsilon (OMIM ID: 300093) Xq28 GDI1, RABGD1A, MRX41, MRX48 (provisional) GDP dissociation inhibitor 1 (OMIM ID: 300104) Xq28 HMS1, GAY1 (tentative) Homosexuality, male (OMIM ID: 306995) Xq28 GCP, CBD (confirmed) Green cone pigment (OMIM ID: 303800) Xq28 GDX (provisional) Protein GDX (OMIM ID: 312070) Xq28 HFC1, HCFC1 (confirmed) Host cell factor C1 (VP16-accessory protein) (OMIM ID: 300019) Xq28 IDH3G (confirmed) Isocitrate dehydrogenase 3 (NAD+), gamma (OMIM ID: 300089) Xq28 IDS, MPS2, SIDS (confirmed) Iduronate 2-sulfatase (Hunter syndrome) (OMIM ID: 309900) Xq28 IL9R (provisional) Interleukin-9 receptor (OMIM ID: 300007) Xq28 IP2 (confirmed) Incontinentia pigmenti-2 (familial, male-lethal type) (OMIM ID: 308310) Xq28 IPOX, CIIPX (provisional) Intestinal pseudoobstruction, neuronal, primary idiopathic (OMIM ID: 300048) Xq28 ITBA1 (provisional) ITBA1 gene (OMIM ID: 300059) Xq28 ITBA2 (provisional) ITBA2 gene (OMIM ID: 300060) Xq28 L1CAM, CAML1, HSAS1 (confirmed) L1 cell adhesion molecule (OMIM ID: 308840) Xq28 MAFD2, MDX (tentative) Major affective disorder-2 (OMIM ID: 309200) Xq28 MAGE1 (confirmed) Melanoma antigen 1 (directs expression of antigen MZ2-E) (OMIM ID: 300016) Xq28 MAGEA2, MAGE2 (provisional) Melanoma antigen, family A, 2 (OMIM ID: 300173) Xq28 MAGEA3, MAGE3 (confirmed) Melanoma antigen, family A, 3 (OMIM ID: 300174) Xq28 MAGEA4, MAGE4A, MAGE4B (provisional) Melanoma antigen, family A, 4 (OMIM ID: 300175) Xq28 MAGEA6, MAGE6 (provisional) Melanoma antigen, family A, 6 (OMIM ID: 300176) Xq28 MAGEA12, MAGE12 (provisional) Melanoma antigen, family A, 12 (OMIM ID: 300177) Xq28 MECP2 (provisional) Methyl-CpG-binding protein-2 (OMIM ID: 300005) Xq28 MPP1, PEMP, EMP55 (provisional) Membrane protein, palmitoylated-1 (55kD) (OMIM ID: 305360) Xq28 MRSD, CHRS (provisional) Mental retardation-skeletal dysplasia (OMIM ID: 309620) Xq28 MTCP1 (provisional) Mature T-cell proliferation 1 (OMIM ID: 300116) Xq28 MTM1, MTMX (confirmed) Myotubular myopathy-1 (myotubularin) (OMIM ID: 310400) Xq28 MTMR1 (provisional) Myotubularin-related protein-1 (OMIM ID: 300171) Xq28 MYP1, BED (provisional) Myopia, X-linked (Bornholm eye disease) (OMIM ID: 310460) Xq28 OPD1 (provisional) Otopalatodigital syndrome, type I (OMIM ID: 311300) Xq28 P3 (provisional) Protein P3 (OMIM ID: 312090) Xq28 PPMX (provisional) Mental retardation with psychosis, pyramidal signs, and macroorchidism (OMIM ID: 300055) Xq28 RCP, CBP (confirmed) Red cone pigment (OMIM ID: 303900) Xq28 RENBP (provisional) Renin-binding protein (OMIM ID: 312420) Xq28 RGC1 (provisional) Rho-GAP hematopoietic protein C1 (OMIM ID: 300023) Xq28 RTT, RTS (provisional) Rett syndrome (OMIM ID: 312750) Xq28 SEX (provisional) Sex chromosome X transmembrane protein of HGF receptor family 3 (OMIM ID: 300022) Xq28 SLC6A8 (confirmed) Solute carrier family 6 (neurotransmitter transporter, creatine), (OMIM ID: 300036) Xq28 SYBL1 (provisional) Synaptobrevin-like 1 (OMIM ID: 300053) Xq28 TAZ, EFE2, BTHS, CMD3A (confirmed) Tafazzin (OMIM ID: 302060) Xq28 TEX28 (provisional) Testis-expressed gene on Xq28 (OMIM ID: 300092) Xq28 TKCR, TKC (confirmed) Torticollis, keloids, cryptorchidism and renal dysplasia (OMIM ID: 314300) Xq28 TKTL1, TKT2, TKR (provisional) Transketolase-like 1 (OMIM ID: 300044) Xq28 VBP1 (provisional) Von Hippel-Lindau binding protein-1 (OMIM ID: 300133) Xq28 WSN, BGMR (provisional) Waisman syndrome (basal ganglion disorder with mental retardation) (OMIM ID: 311510) Xq28 XM (provisional) Xm (OMIM ID: 314900) C Chr.X EEF1B4 (provisional) Eukaryotic translation elongation factor-1, beta-4 (OMIM ID: 300140) Chr.X IL13RA1 (provisional) Interleukin-13 receptor, alpha-1 (OMIM ID: 300119) Chr.X PLS3 (provisional) Plastin 3 (OMIM ID: 300131) X Xq26.3 BFLS (confirmed) Borjeson-Forssman-Lehmann syndrome (OMIM ID: 301900) Y Ypter-p11.2 ASMTY (provisional) Acetylserotonin methyltransferase (Y chromosome) (OMIM ID: 402500) Ypter-p11.2 MIC2Y (confirmed) Antigen identified by monoclonal 12E7, Y homolog (OMIM ID: 450000) Ypter-p11.2 TSPY (provisional) Testis-specific protein, Y-linked (OMIM ID: 480100) Ypter-p11.2 XE7Y (provisional) Pseudoautosomal gene XE7 (Y chromosome) (OMIM ID: 465000) Yp13.3 IL3RAY (provisional) Interleukin-3 receptor (Y chromosome) (OMIM ID: 430000) Yp11.3 RPS4Y (provisional) Ribosomal protein S4, Y-linked (OMIM ID: 470000) Yp11.3 SRY, TDF (confirmed) Sex-determining region Y (testis determining factor) (OMIM ID: 480000) Yp11.3 ZFY (confirmed) Zinc finger protein, Y-linked (OMIM ID: 490000) Yp11.2 PRKY (provisional) Protein kinase, Y-linked (OMIM ID: 400008) Yp11 AMELY, AMGL (confirmed) Amelogenin (Y chromosome) (OMIM ID: 410000) Yp11 CSF2RY (provisional) Granulocyte-macrophage colony-stimulating factor receptor, alpha (OMIM ID: 425000) Yp ANT3Y (provisional) Adenine nucleotide translocator-3 (Y chromosome) (OMIM ID: 403000) Yq AZF2 (provisional) Azoospermia factor 2 (OMIM ID: 400000) Yq BPY2 (provisional) Basic protein on Y chromosome, 2 (OMIM ID: 400013) Yq SMCY (provisional) Selected mouse cDNA on Y, human homolog of (OMIM ID: 400001) Yq11 AZF1, SP3 (confirmed) Azoospermia factor 1 (OMIM ID: 415000) Yq11 DAZ (provisional) Deleted in azoospermia (OMIM ID: 400003) Yq11 DBY (provisional) DEAD/H box-3, Y-linked (OMIM ID: 400010) Yq11 HY, HYA (confirmed) Histocompatibility Y antigen (OMIM ID: 426000) Yq11 RBMY1A1, RBM1, YRRM1, RBM2 (confirmed) RNA binding motif protein, Y chromosome, family 1, member A1 (OMIM ID: 400006) Yq11 RBM2 (provisional) RNA binding motif protein 2 (OMIM ID: 400007) Yq11 UTY (provisional) Ubiquitously transcribed TPR gene on Y chromosome (OMIM ID: 400009) Yq11.2 USP9Y, DFFRY (provisional) Ubiquitin-specific protease-9, Y chromosome (Drosophila fat facets (OMIM ID: 400005) Yq12 GCY, TSY, STA (tentative) Growth control, Y-chromosome influenced (OMIM ID: 475000)