Gene: [01p1/CASQ2] calsequestrin 2, cardiac muscle; — Gene: [01q21/MUC1] mucin 1, urinary (epithelial; peanut lectin binding); episialin (carcinoma-associated mucin 1); breast carcinoma-associated antigen DF3 (mucin 1; episialin); [BCAM DF3 EMA ]


  • Gene: [01p1/CASQ2] calsequestrin 2, cardiac muscle;
  • Gene: [01p1/EXTL2] exostoses (multiple)-like 2; exostoses (multiple)-related 2; [EXTR2 ]
  • Gene: [01p1/HMGCS2] 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial);
  • Gene: [01p1/NHLH2] nescient helix loop helix 2; [HEN2 NSCL2 ]
  • Gene: [01p1/NOTCH2] Notch (Drosophila) homolog 2;
  • Gene: [01p1/SLC16A1] solute carrier family 16 (monocarboxylic acid transporters), member 1; mevalonate uptake facilitator (MEV; MIM:156575); [MCT MEV ]
  • Gene: [01p12/IGHGR1B] immunoglobulin G Fc-receptor Ib (high-affinity); [FCGR1B CD64 ]
  • Gene: [01p12/NEFHL] neurofilament, heavy polypeptide-like;
  • Gene: [01p13/ABCR] ABC transporter, retina-specific; Stargardt disease 1 (fundus flavimaculatus, autosomal recessive; MIM:248200); macular dystrophy with flecks, type 1 (MIM:248200); age-related macular degeneration 1 (ARMD1; AMD; senile ma
  • Gene: [01p13/AMPD1] adenosine monophosphate deaminase 1 (isoform M); exercise-related myopathy (AMPD-muscle deficiency);
  • Gene: [01p13/ATP1A1] ATPase, Na+,K+ transporting, alpha 1 polypeptide;
  • Gene: [01p13/CD2] antigen CD2 (p50; mono-antibodies Leu5, T11, 9.6, 35.1); sheep red blood cell receptor; antigen CD58 receptor (rosette receptor); [GP50 SRBC ]
  • Gene: [01p13/CD53] antigen CD53 (MOX44); antigen MOX44 (monoclonal antibody MRC-OX44); membrane glycoprotein MRC-OX44; [MOX44 ]
  • Gene: [01p13/CD58] antigen CD58 (LFA3; antigen CD2 ligand); lymphocyte function-associated antigen 3 (antigen CD58); [LFA3 ]
  • Gene: [01p13/GNAI3] guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3; adenylate cyclase inhibitor GI, alpha-I3;
  • Gene: [01p13/GNAT2] guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2; adenylate cyclase transductor GT, alpha-T2;
  • Gene: [01p13/NGFB] nerve growth factor, beta polypeptide;
  • Gene: [01p13/SYCP1] synaptonemal complex protein 1; [SCP1 ]
  • Gene: [01p13/TSHB] thyroid stimulating hormone, beta peptide (thyrotropin, beta chain); pituitary cretinism (thyroid-stimulating hormone deficiency; MIM:275100);
  • Gene: [01p13/V7] leukocyte surface protein;
  • Gene: [01p13/WNT2B] wingless-type MMTV integration site family, member 2B; wingless-type MMTV integration site family, member 13; [WNT13 ]
  • Gene: [01p131/HSD3B1] hydroxy-delta-5-steroid (3 beta-) dehydrogenase 1 (EC:1.1.1.145); steroid delta-isomerase 1 (EC:5.3.3.1);
  • Gene: [01p131/HSD3B2] hydroxy-delta-5-steroid (3 beta-) dehydrogenase 2 (EC:1.1.1.145); steroid delta-isomerase 2 (EC:5.3.3.1); adrenal hyperplasia II (3-beta-HSD2 deficiency);
  • Gene: [01p131/NRAS] neuroblastoma ras viral cell homolog;
  • Gene: [01p133/ADORA3] adenosine A3 receptor; [A3AR ]
  • Gene: [01p133/CHIT1] chitinase 1; [YKL-39 ]
  • Gene: [01p133/GSTM1] glutathione S-transferase M1 (mu class; H-b; liver); lung cancer? (susceptibility, in smoker);
  • Gene: [01p133/GSTM2] glutathione S-transferase M2 (mu class; muscle);
  • Gene: [01p133/GSTM3] glutathione S-transferase M3 (mu class; brain);
  • Gene: [01p133/GSTM4] glutathione S-transferase M4 (mu class);
  • Gene: [01p133/GSTM5] glutathione S-transferase M5 (mu class);
  • Gene: [01p133/KCNA3] potassium voltage-gated channel, shaker-related subfamily, member 3;
  • Gene: [01p133/RAP1A] RAP1A, member of RAS oncogene family (K-rev); [KREV1 SMG-21 ]
  • Gene: [01p2/CNN3] calponin 3, acidic;
  • Gene: [01p2/F3] coagulation factor III (thromboplastin, tissue factor); thromboplastin, tissue factor; [TF HTF ]
  • Gene: [01p2/NFIXL1] nuclear factor I/X-like 1;
  • Gene: [01p2/PXMP1] peroxisomal membrane protein 1 (70kD, Zellweger syndrome); Zellweger syndrome 2; [PMP70 ZWS2 ]
  • Gene: [01p21/ACTGP4] actin, gamma pseudogene 4;
  • Gene: [01p21/ACTGP5] actin, gamma pseudogene 5;
  • Gene: [01p21/ACTGP6] actin, gamma pseudogene 6;
  • Gene: [01p21/ACTGP7] actin, gamma pseudogene 7;
  • Gene: [01p21/ACTGP8] actin, gamma pseudogene 8;
  • Gene: [01p21/AGL] 4-alpha-glucanotransferase (EC:2.4.1.25); amylo-1,6-glucosidase (EC:3.2.1.33); glycogen debranching enzyme system (EC:2.4.1.25 & EC:3.2.1.33); glycogen storage disease III (debrancher deficiency; Cori & Forbes diseases);
  • Gene: [01p21/AMY1A] amylase, alpha 1A; salivary (glycogenase);
  • Gene: [01p21/AMY1B] amylase, alpha 1B; salivary (glycogenase);
  • Gene: [01p21/AMY1C] amylase, alpha 1C; salivary;
  • Gene: [01p21/AMY2A] amylase, alpha 2A; pancreatic;
  • Gene: [01p21/AMY2B] amylase, alpha 2B; pancreatic;
  • Gene: [01p21/AMYP1] amylase, alpha-pseudogene 1; [AMY2P1 ]
  • Gene: [01p21/COL11A1] collagen, type XI, alpha 1;
  • Gene: [01p21/GLCLR] glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), regulatory (30.8kD);
  • Gene: [01p21/KCNC4] potassium voltage-gated channel, Shaw-related subfamily, member 4; [KV3.4 ]
  • Gene: [01p212/FRA1E] fragile site 1p21.2, aphidicolin type, common;
  • Gene: [01p213/FRA1M] fragile site 1p21.3, folic acid type, rare;
  • Gene: [01p22/CDC7L1] cell division cycle 7, S. cerevisiae, homolog-like 1; cell division cycle 7-like 1; [CDC7 Hsk1 ]
  • Gene: [01p22/CTBS] chitobase, di-N-acetyl-;
  • Gene: [01p22/DPYD] dihydropyrimidine dehydrogenase; 5-fluorouracil toxicity (thymine uraciluria);
  • Gene: [01p22/FRA1D] fragile site 1p22, aphidicolin type, common;
  • Gene: [01p22/GFI1] growth factor independent 1; [ZNF163 ]
  • Gene: [01p22/GNG5] guanine nucleotide binding protein (G protein), gamma polypeptide 5;
  • Gene: [01p22/GTF2B] general transcription factor IIB;
  • Gene: [01p22/MSK1] antigen MSK1 (monoclonal antibody AJ9); [GP140 ]
  • Gene: [01p22/NB4S] neuroblastoma, stage 4S;
  • Gene: [01p22/TRAP2] tumor rejection antigen (gp96) pseudogene 2;
  • Gene: [01p22/UOX] urate oxidase (uricase);
  • Gene: [01p221/DR1] down-regulator of transcription 1, TBP-binding (negative cofactor 2); [NC2 ]
  • Gene: [01p222/FENL1] flap endonuclease-like 1;
  • Gene: [01p3/AGRN] agrin;
  • Gene: [01p3/ALPL] alkaline phosphatase, liver/bone/kidney; hypophosphatasia, adult type (MIM:146300); phosphoethanolaminuria (hypophosphatasia, infantile; HOPS; MIM:241500);
  • Gene: [01p3/C1QA] complement component 1, q subcomponent, alpha polypeptide; systemic lupus erythematosis (C1qA deficiency);
  • Gene: [01p3/C1QB] complement component 1, q subcomponent, beta polypeptide; systemic lupus erythematosis (C1qB deficiency);
  • Gene: [01p3/C1QG] complement component 1, q subcomponent, gamma polypeptide; systemic lupus erythematosis (C1qG deficiency);
  • Gene: [01p3/CDA] cytidine deaminase;
  • Gene: [01p3/COL8A2] collagen, type VIII, alpha 2 (endothelial);
  • Gene: [01p3/COL9A2] collagen, type IX, alpha 2 (cartilage-specific short); epiphyseal dysplasia, multiple 2 (MIM:600204); [EDM2 ]
  • Gene: [01p3/CSF3R] colony stimulating factor 3 receptor (granulocyte); granulocyte growth factor 3 receptor (colony stimulating); agranulocytosis (Kostmann disease; MIM:202700); [CSF3RA NDF ]
  • Gene: [01p3/DIO1] deiodinase, iodothyronine type I; thyroxine deiodinase type I (selenoprotein); hyperthyroxinemia;
  • Gene: [01p3/EIF1A] eukaryotic translation initiation factor 1A; eukaryotic translation initiation factor 4C; [EIF4C ]
  • Gene: [01p3/EKV] erythrokeratodermia variabilis; progressive symmetrical erythrokeratoderma; [PSEK ]
  • Gene: [01p3/EPB41] erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked; 80kD); elliptocytosis 1, hereditary (Rh linked; band 4.1 protein); [E41P HE EL1 ]
  • Gene: [01p3/ERVPL1] endogenous retroviral sequence pol-like 1 (clone HLM2); [ERPL1 HLM2 ]
  • Gene: [01p3/FAB3] fatty acid binding protein 3, muscle and heart; mammary-derived growth inhibitor; [FABP3 MDGI ]
  • Gene: [01p3/FKHL17] forkhead (Drosophila)-like 17; [freac-9 ]
  • Gene: [01p3/GALE] UDP-galactose-4-epimerase (galactosemia III); galactosemia III (galactose epimerase deficiency);
  • Gene: [01p3/GNB1] guanine nucleotide binding protein (G protein), beta polypeptide 1; adenylate cyclase modulator G(I,S,T), beta-1;
  • Gene: [01p3/GOT2L1] glutamic-oxaloacetic transaminase 2-like 1;
  • Gene: [01p3/GPR3] G protein-coupled receptor 3; adenylate cyclase constitutive activator; [ACCA ]
  • Gene: [01p3/GRIK3] glutamate receptor, ionotropic, kainate 3; [GLUR7 GLR7 ]
  • Gene: [01p3/GUCA2A] guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable);
  • Gene: [01p3/GUCA2B] guanylate cyclase activator 2B; guanylate cyclase C activating peptide 2; uroguanylin (MIM:601271); [GCAP-II UGN ]
  • Gene: [01p3/HMG17] high-mobility group (nonhistone chromosomal) protein 17;
  • Gene: [01p3/HMGCL] 3-hydroxy-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria); hydroxymethylglutaricaciduria (HMG-CoA lyase deficiency);
  • Gene: [01p3/HTR1D] 5-hydroxytryptamine (serotonin) receptor 1D; [HTRL RDC4 ]
  • Gene: [01p3/HTR6] 5-hydroxytryptamine (serotonin) receptor 6;
  • Gene: [01p3/IVLL] involucrin-like;
  • Gene: [01p3/JAK1] Janus kinase 1; protein tyrosine kinase JAK1 (non-receptor type);
  • Gene: [01p3/JUN] avian sarcoma virus 17 oncogene homolog; transcription factor AP-1 (protooncogene c-jun); [AP1 ]
  • Gene: [01p3/LAP18] leukemia-associated phosphoprotein p18 (stathmin; metablastin); [SMN ]
  • Gene: [01p3/LCK] lymphocyte-specific protein tyrosine kinase (protooncogene LCK); protooncogene LCK (protein tyrosine kinase, lymphocyte-specific);
  • Gene: [01p3/MAGOH] mago-nashi (Drosophila) homolog, proliferation-associated;
  • Gene: [01p3/MEMO1] modifier of methylation, for class I HLA;
  • Gene: [01p3/MFAP2] microfibrillar-associated protein 2; [D1S170 MAGP1 ]
  • Gene: [01p3/MPB1] MYC promoter-binding protein 1; [MBP-1 ]
  • Gene: [01p3/MTF1] metal-regulatory transcription factor 1; [MTF-1 ]
  • Gene: [01p3/MUTYH] mutY mismatch repair protein (E. coli) homolog (65kD); [MYH ]
  • Gene: [01p3/OPRD1] opioid receptor, delta 1;
  • Gene: [01p3/PLA2G2C] phospholipase A2, group IIC (pseudogene);
  • Gene: [01p3/PLA2G5] phospholipase A2, group V;
  • Gene: [01p3/PTAFR] platelet-activating factor receptor;
  • Gene: [01p3/PTOS1] ptosis, hereditary congenital 1 (autosomal dominant);
  • Gene: [01p3/RAB3B] oncogene RAS-family, member rab3B;
  • Gene: [01p3/RAP1GA1] RAP1, GTPase activating protein 1;
  • Gene: [01p3/RD] Radin blood group;
  • Gene: [01p3/RHCE] Rhesus blood group, CcEe antigens; Rhesus blood group, E antigen (MIM:111690); [RH RHC RHE ]
  • Gene: [01p3/RHD] Rhesus blood group, D antigen; [RHIXB ]
  • Gene: [01p3/RNU21] RNA, U21 small nuclear;
  • Gene: [01p3/RPL11] ribosomal protein L11;
  • Gene: [01p3/RPL5] ribosomal protein L5;
  • Gene: [01p3/RPS8] ribosomal protein S8;
  • Gene: [01p3/RRM2P1] ribonucleotide reductase M2 polypeptide pseudogene 1;
  • Gene: [01p3/SC] Scianna blood group;
  • Gene: [01p3/SDHB] succinate dehydrogenase complex, subunit B, iron sulphur (Ip) subunit;
  • Gene: [01p3/SHMT1P] serine hydroxymethyltransferase 1 (soluble) pseudogene;
  • Gene: [01p3/SJS] chondrodystrophic myotonia; Schwartz-Jampel-Aberfeld syndrome;
  • Gene: [01p3/SLC2A1] solute carrier family 2 (facilitated glucose transporter), member 1; glucose transporter 1 (erythrocyte/brain); [GLUT1 GLUT ]
  • Gene: [01p3/SLC9A1] solute carrier family 9 (sodium/hydrogen exchanger), isoform 1; antiporter, Na+/H+, amiloride sensitive; [APNH NHE1 ]
  • Gene: [01p3/TALDOP1] transaldolase pseudogene 1; [TAL-H ]
  • Gene: [01p3/TDO2L1] tryptophan 2,3-dioxygenase-like 1;
  • Gene: [01p3/TGFBR3] transforming growth factor, beta receptor III (300kD, betaglycan);
  • Gene: [01p3/TIE] tyrosine kinase with immunoglobulin and epidermal growth factor homology domains; protein receptor tyrosine kinase (TIE1);
  • Gene: [01p3/TRGL1] tRNA glycine (anticodon GCC)-like 1;
  • Gene: [01p3/VCAM1] vascular cell adhesion molecule-1; endothelial glycoprotein VCAM-1 (vascular cell adhesion molecule-1);
  • Gene: [01p31/ACADM] acyl-CoA dehydrogenase M (medium straight-chain fa C4/C12); hypoglycemia, non-ketotic, and secondary carnitine deficiency; dicarboxylicaciduria (MCAD deficiency); Reye-like syndrome (fatty acids beta-oxidation familial d
  • Gene: [01p31/BCKDE2] dihydrolipoamide branched chain transacylase (E2 component of BCKD); branched chain keto acid dehydrogenase, E2 component; maple syrup urine disease (due to BCK-E2 deficiency);
  • Gene: [01p31/CSE] choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity); dystonia 9; [DYT9 ]
  • Gene: [01p31/DDIT1] DNA-damage-inducible transcript 1; [GGAD45 ]
  • Gene: [01p31/FRA1L] fragile site 1p31, aphidicolin type, common;
  • Gene: [01p31/LEPR] leptin receptor; obesity, morbid;
  • Gene: [01p31/MSH4] mutS (E. coli) homolog 4;
  • Gene: [01p31/NFIA] nuclear factor I/A;
  • Gene: [01p31/PDE4B] phosphodiesterase 4B, cAMP-specific; dunce (Drosophila)-homolog phosphodiesterase E4;
  • Gene: [01p31/PGM1] phosphoglucomutase 1;
  • Gene: [01p31/PRKAA2] protein kinase, AMP-activated, alpha 2 catalytic subunit;
  • Gene: [01p31/RABGGTB] Rab geranylgeranyl transferase, beta subunit; retinal degeneration?;
  • Gene: [01p31/RPE65] retinal pigment epithelium-specific protein (65kD); retinitis pigmentosa 20 (autosomal recessive); amaurosis congenita of Leber II (LCA2; congenital retinal blindness; MIM:204100); [LCA2 ]
  • Gene: [01p31/SLC2A5] solute carrier family 2 (facilitated glucose transporter), member 5; glucose transporter 5 (kidney); [GLUT5 ]
  • Gene: [01p311/PTGFR] prostaglandin F2 receptor (FP);
  • Gene: [01p312/FRA1C] fragile site 1p31.2, aphidicolin type, common;
  • Gene: [01p312/IL12RB2] interleukin 12 receptor, beta 2;
  • Gene: [01p312/PTGER3] prostaglandin E2 receptor 3 (subtype EP3);
  • Gene: [01p313/PHBP3] prohibitin pseudogene 3;
  • Gene: [01p32/BLYM] protooncogene BLYM (chicken bursal lymphoma); [BLYM1 ]
  • Gene: [01p32/C8A] complement component 8, alpha polypeptide; C8 alpha deficiency; [C81 ]
  • Gene: [01p32/C8B] complement component 8, beta polypeptide; C8 beta deficiency;
  • Gene: [01p32/CDKN2C] cyclin-dependent kinase inhibitor 2C (p18);
  • Gene: [01p32/CPT2] carnitine palmitoyltransferase II (deficiency: myopathy); myopathy with deficiency of carnitine palmitoyltransferase II (mild late-onset myopathic form; MIM:255110); hypoglycemia, hypoketotic, with deficiency of carnitine
  • Gene: [01p32/EPS15] epidermal growth factor receptor pathway substrate 15 (140-150kD); myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 5; [AF1P MLLT5 ]
  • Gene: [01p32/FKHL12] forkhead (Drosophila)-like 12;
  • Gene: [01p32/FRA1B] fragile site 1p32, aphidicolin type, common;
  • Gene: [01p32/HNRPA1L] heterogeneous nuclear ribonucleoprotein A1-like; RNP particle, heterogeneous nuclear, A1 protein-like;
  • Gene: [01p32/MYCL1] viral cell homolog 1 (lung carcinoma derived); [MYCL LMYC]
  • Gene: [01p32/NFYC] nuclear factor binding to Y box of HLA genes, gamma polypeptide; transcription factor NF-Y, C subunit; [CBF-C ]
  • Gene: [01p32/ORC1L] origin recognition complex, subunit 1 (yeast homolog)-like;
  • Gene: [01p32/PPT] palmitoyl-protein thioesterase; ceroid-lipofuscinosis, neuronal 1 infantile (Haltia-Santavuori disease) (MIM:256730);
  • Gene: [01p32/PTPRF] protein tyrosine phosphatase, receptor type, f polypeptide; leukocyte antigen related tyrosine phosphatase;
  • Gene: [01p32/RLF] rearranged L-myc fusion protein;
  • Gene: [01p32/SCPRP] sterol carrier precursor protein SCP-X/SCP-2; 3-ketoacyl-CoA thiolase?, peroxisomal (SCP2);
  • Gene: [01p322/NRD1] nardilysin (N-arginine dibasic convertase) 1;
  • Gene: [01p33/HCRTR1] hypocretin (orexin) receptor 1; orexin 1 receptor (orexin-A receptor); [OX1R ]
  • Gene: [01p33/SLC6A9] solute carrier family 6 (neurotransmitter transporter, glycine), member 9;
  • Gene: [01p34/AK2] adenylate kinase 2 (mitochondrial);
  • Gene: [01p34/APOER2] apolipoprotein E receptor, 2;
  • Gene: [01p34/COL16A1] collagen, type XVI, alpha 1;
  • Gene: [01p34/CTPS] CTP synthase;
  • Gene: [01p34/EDN2] endothelin 2; [ET2 ]
  • Gene: [01p34/ELAVL4] ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4; Hu antigen D (paraneoplastic encephalomyelitis antigen); paraneoplastic encephalomyelitis with sensory neuropathy; [HUD PNEM ]
  • Gene: [01p34/FUCA1RA] fucosidase, alpha-L-, regulator; [FUCT ]
  • Gene: [01p34/FUCA1] alpha-L-fucosidase 1, tissue; fucosidosis (alpha-L-fucosidase deficiency);
  • Gene: [01p34/INPP5B] inositol polyphosphate-5-phosphatase, type II, 75kD;
  • Gene: [01p34/LAPTM5] lysosomal-associated multispanning membrane protein 5; [KIAA0085 ]
  • Gene: [01p34/MLP] MARCKS-like protein (MacMarcks); [F52 MRP ]
  • Gene: [01p34/MPL] myeloproliferative leukemia virus, human homolog of; [MPLV ]
  • Gene: [01p34/UROD] uroporphyrinogen decarboxylase (porphyria, type 2); porphyria cutanea tarda (type II; hepatocutaneous type);
  • Gene: [01p34/YB1] Y-box binding protein;
  • Gene: [01p34/ZNF49] zinc finger protein 49;
  • Gene: [01p341/HDAC1] histone deacetylase 1; reduced potassium dependency, yeast, homolog-like 1 (RPD3-like 1); [HD1 RPD3L1 ]
  • Gene: [01p341/PAGA] proliferation-associated gene A; natural killer-enhancing factor A; [NKEFA ]
  • Gene: [01p342/PSMB2] proteasome (prosome, macropain) subunit, beta type, 2 (homolog of yeast PRE1); [HsC7-I ]
  • Gene: [01p35/BAI2] brain-specific angiogenesis inhibitor 2;
  • Gene: [01p35/EBVS1] Epstein-Barr virus insertion site 1;
  • Gene: [01p35/IFNI6] interferon, alpha-inducible protein 6 (clone IFI-6-16); [G1P3 ]
  • Gene: [01p35/MATN1] matrilin 1; cartilage matrix protein; [CMP CRTM ]
  • Gene: [01p35/PLA2G2A] phospholipase A2, group IIA (platelets, synovial fluid); ApcMin-induced intestinal neoplasia (Mom1);
  • Gene: [01p35/PTP4A1] protein tyrosine phosphatase 4A1;
  • Gene: [01p35/RPA2] replication protein A2 (32kD);
  • Gene: [01p351/GJA4] gap junction protein, alpha 4, 37kD (connexin 37);
  • Gene: [01p351/HP28] axonemal dynein light chain p28 (chlamydomonas) homolog; inner dynein arm, chlamydomonas, homolog of;
  • Gene: [01p36/A12M2] adenovirus-12 chromosome modification site 1A;
  • Gene: [01p36/BCS2] breast-ovarian cancer, familial; [BRCD2 BCDS2 ]
  • Gene: [01p36/CA6] carbonic anhydrase VI (salivary);
  • Gene: [01p36/CBFA3] core-binding factor, runt domain, alpha subunit 3; [AML2 PEBP2A3 ]
  • Gene: [01p36/CCV] cataract, congenital Volkmann type;
  • Gene: [01p36/CD24L1] antigen CD24-like 1;
  • Gene: [01p36/CD30] antigen CD30 (Ki-1 antigen); [D1S166E ]
  • Gene: [01p36/CLCN6] chloride channel 6;
  • Gene: [01p36/CLCNKA] chloride channel Ka (kidney);
  • Gene: [01p36/CLCNKB] chloride channel Kb (kidney); Bartter syndrome, type 3;
  • Gene: [01p36/CMM] melanoma, cutaneous malignant 1 (with dysplastic nevus syndrome); [DNS ]
  • Gene: [01p36/CMT2A] Charcot-Marie-Tooth neuropathy 2A, neuronal type; hereditary motor sensory neuropathy 2A;
  • Gene: [01p36/CORT] cortistatin;
  • Gene: [01p36/DVL1] dishevelled 1 (homologous to Drosophila dsh);
  • Gene: [01p36/E2F2] E2F transcription factor 2 (retinoblastoma-binding protein);
  • Gene: [01p36/ECE1] endothelin converting enzyme 1;
  • Gene: [01p36/ENO1] enolase 1 (phosphopyruvate hydratase, alpha); spherocytosis, autosomal dominant;
  • Gene: [01p36/EYA3] eyes absent (Drosophila) homolog 3;
  • Gene: [01p36/FGR] tyrosine kinase v-fgr cell homolog; Gardner-Rasher feline sarcoma viral cell homolog;
  • Gene: [01p36/FRA1A] fragile site 1p36, aphidicolin type, common;
  • Gene: [01p36/GDH] glucose 1-dehydrogenase;
  • Gene: [01p36/GLC3B] glaucoma 3, primary infantile, B;
  • Gene: [01p36/HVEM] herpes virus entry mediator; [TR2 ATAR ]
  • Gene: [01p36/ILA] interleukin-activated receptor, homolog of mouse Ly63; antigen CD137 (induced by lymphocyte activation; ILA); [CD137 Ly63 ]
  • Gene: [01p36/MSK31] antigen MSK31 (monoclonal antibody SR75); [SR75 ]
  • Gene: [01p36/NBL1] neuroblastoma, suppression of tumorigenicity 1; neuroblastoma suppressor; neuroblastoma; [NBS NB ]
  • Gene: [01p36/PAX7] paired box homeotic gene 7; rhabdomyosarcoma, type 2 (alveolar; MIM:268220); [HUP1 RMSA ]
  • Gene: [01p36/PGD] phosphogluconate dehydrogenase, erythrocyte;
  • Gene: [01p36/PLOD1] procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 1; Ehlers-Danlos syndrome, type VI (MIM:225400);
  • Gene: [01p36/RIZ] retinoblastoma protein binding zinc-finger protein;
  • Gene: [01p36/SCNN1D] sodium channel, nonvoltage-gated 1 delta;
  • Gene: [01p36/TP73] tumor protein p73; [p73 ]
  • Gene: [01p36/TXGP1R] tax-transcriptionally activated glycoprotein 1 receptor; [TXGP1L OX40 ]
  • Gene: [01p36/ZNF151] zinc finger protein 151 (clone pHZ-67);
  • Gene: [01p36/ZNF60] zinc finger protein 60;
  • Gene: [01p361/BB1] growth-regulating protein bb1;
  • Gene: [01p361/CAPZB] capping protein (actin filament) muscle Z-line, beta;
  • Gene: [01p361/CDC42] cell division cycle 42 (GTP-binding protein, 25kD); [G25K ]
  • Gene: [01p361/CHC1] chromosome condensation regulator 1; [RCC1 ]
  • Gene: [01p361/DAN] neuroblastoma tumor suppressor gene DAN; zinc finger protein DAN; differential-screening-selected gene aberrant in neuroblastoma (DAN); [N03 D1S1733E ]
  • Gene: [01p361/DDOST] dolichyl-diphosphooligosaccharide-protein glycosyltransferase; oligosaccharyltransferase;
  • Gene: [01p361/EPHA2] ephrin receptor EphA2; epithelial cell receptor protein tyrosine kinase; human embryo kinase 5;
  • Gene: [01p361/EPHB2] ephrin receptor EphB2; eph tyrosine kinase 3; developmentally-regulated eph-related tyrosine kinase;
  • Gene: [01p361/EXTL1] exostosin L; exostoses (multiple)-like 1;
  • Gene: [01p361/HSPG2] heparan sulfate proteoglycan 2 (perlecan, 400kD); [PlC ]
  • Gene: [01p361/ID3] inhibitor of DNA binding 3, dominant negative helix-loop-helix protein; [HEIR-1 ]
  • Gene: [01p361/PRKACB] protein kinase, cAMP-dependent, catalytic subunit beta;
  • Gene: [01p361/RNE1] RNA, small nucleolar E1;
  • Gene: [01p361/RSC1A1] regulatory solute carrier protein, family 1, member 1; Na(+)-D-glucose co-transport regulator gene; [RS1 ]
  • Gene: [01p361/TCEB3] transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A);
  • Gene: [01p362/FRAP1] FK506-binding protein 12-rapamycin associated protein 1;
  • Gene: [01p362/NPPA] natriuretic peptide precursor A (cardionatrin; atrial hormone); atrionatriuretic peptide (atriopeptin, prepronatriodilatin); [ANP PND ANF ]
  • Gene: [01p362/NPPB] natriuretic peptide precursor B;
  • Gene: [01p362/TNFR2] tumor necrosis factor receptor 2 (75 kD); cachectin receptor 2 (lymphotoxin receptor 2);
  • Gene: [01p363/CDC2L1] cell division cycle 2-like 1 (PITSLRE B); protein kinase p58/GTA, galactosyltransferase associated; PITSLRE protein kinase B;
  • Gene: [01p363/CDC2L2] cell division cycle 2-like 2 (PITSLRE A); cell division cycle 2-like 3; PITSLRE protein kinase A;
  • Gene: [01p363/D1Z2] midisatellite DNA 66-68 bp (cosmid probe C230);
  • Gene: [01p363/DR3] death receptor 3; lymphocyte-associated receptor of death (LARD); [TRAMP Apo-3 ]
  • Gene: [01p363/HKR3] chromatin-associated HKR-phosphoprotein 3 (GLI-Kruppel family); zinc finger oncoprotein HKR3;
  • Gene: [01p363/KCNA2B] potassium voltage-gated channel, shaker-related subfamily, member 1 beta-2 subunit; [Kvb1.2 ]
  • Gene: [01p363/MMP21] matrix metalloproteinase 21;
  • Gene: [01p363/MMP22] matrix metalloproteinase 22;
  • Gene: [01p363/MTHFR] 5,10-methylenetetrahydrofolate reductase (NADPH); homocystinuria II (due to deficiency of 5,10-methylenetetrahydrofolate reductase activity);
  • Gene: [01p363/RNU1A] RNA, U1 small nuclear (gene cluster of 10-30 functional copies); [RNU1 ]
  • Gene: [01p363/TRE] tRNA glutamic acid;
  • Gene: [01p363/TRN] tRNA asparagine (gene cluster of 10-30 functional copies); [RNN ]
  • Gene: [01q/ALDRL1] aldehyde reductase (aldose reductase)-like 1;
  • Gene: [01q/ATP2B4] ATPase, Ca++ transporting, plasma membrane 4;
  • Gene: [01q/BGLAP] bone gamma-carboxyglutamic acid (gla) protein (osteocalcin); [BGP OSTC ]
  • Gene: [01q/CACNA1E] calcium channel, voltage-dependent, alpha 1E subunit; calcium channel, L type, alpha 1 polypeptide, isoform 6; [CACNL1A6 ]
  • Gene: [01q/CACP] camptodactyly, arthropathy, coxa vara, pericarditis syndrome; Jacobs syndrome; fibrosing serositis, familial; [PAC CAP ]
  • Gene: [01q/CD34] antigen CD34 (sialomucin; monoclonal antibodies MY10, BI.3C5); [MY10 ]
  • Gene: [01q/CENPF] centromere protein F (autoantigen F; 400kD);
  • Gene: [01q/CSRP1] cysteine and glycine-rich protein 1; [CSRP D1S181E ]
  • Gene: [01q/DPT] dermatopontin;
  • Gene: [01q/FDPSL1] farnesyldiphosphate synthetase (dimethylallyltransferase)-like 1; farnesyldiphosphate synthetase (geranyl-trans-transferase)-like 1; cholesterol repressible protein 39A; [CHR39A ]
  • Gene: [01q/FTHL2] ferritin, heavy polypeptide-like 2;
  • Gene: [01q/GOT2L2] glutamic-oxaloacetic transaminase 2-like 2;
  • Gene: [01q/GUK1] guanylate kinase 1;
  • Gene: [01q/GUK2] guanylate kinase 2;
  • Gene: [01q/HRPT2] hyperparathyroidism 2 (with jaw tumor);
  • Gene: [01q/HSPA6] heat shock 70kD protein 6 (HSP70B');
  • Gene: [01q/HSPA7] heat shock 70kD protein 7 (HSP70B);
  • Gene: [01q/KCNJ10] potassium inwardly-rectifying channel, subfamily J, member 10; [Kir1.2 Kir4.1 ]
  • Gene: [01q/KISS1] KiSS-1 metastasis-suppressor;
  • Gene: [01q/LAD1] ladinin 1 (linear IgA disease antigen); linear IgA disease?;
  • Gene: [01q/LGMD1B] limb girdle muscular dystrophy 1B (autosomal dominant);
  • Gene: [01q/LMNACL1] lamin A/C-like 1; [LMNL1 ]
  • Gene: [01q/LRE2] LINE retrotransposable element 2;
  • Gene: [01q/MEF2D] MADS box transcription enhancer factor 2, polypeptide D; myocyte-specific enhancer factor 2D;
  • Gene: [01q/MYOG] myogenin (myogenic factor 4); [MYF4 ]
  • Gene: [01q/PFKM] phosphofructokinase, muscle type (muscle phosphohexokinase); glycogen storage disease VII (Tarui disease);
  • Gene: [01q/PIGR] immunoglobulin receptor, polymeric; [SIgA/M ]
  • Gene: [01q/PKP1] plakophilin 1 (band 6 protein); ectodermal dysplasia/skin fragility syndrome; [B6P ]
  • Gene: [01q/PMX1] paired mesoderm homeo box 1; [PHOX1 ]
  • Gene: [01q/PSEN2] presenilin 2; Alzheimer disease 4; [AD4 AD3L PS2 ]
  • Gene: [01q/RABIF] RAB interacting factor; guanine nucleotide exchange factor Mss4 (mouse homolog); [Mss4 RASGRF4 ]
  • Gene: [01q/RNU1P1] RNA, U1 small nuclear pseudogene 1;
  • Gene: [01q/RNU1P2] RNA, U1 small nuclear pseudogene 2;
  • Gene: [01q/RNU1P3] RNA, U1 small nuclear pseudogene 3;
  • Gene: [01q/RNU1P4] RNA, U1 small nuclear pseudogene 4;
  • Gene: [01q/SYT2] synaptotagmin 2;
  • Gene: [01q/TAKUL1] thyroid autoantigen-like 1; [TSHRL1 ]
  • Gene: [01q/TNR] tenascin R (restrictin, janusin);
  • Gene: [01q/TRNL] tRNA asparagine-like; [RNNL ]
  • Gene: [01q/TUFT1] tuftelin 1;
  • Gene: [01q/XPAC] xeroderma pigmentosum, fast kinetic repair in;
  • Gene: [01q1/ADSS] adenylosuccinate synthase;
  • Gene: [01q11/D1Z1] satellite DNA III; [HS3 ]
  • Gene: [01q11/D1Z3] alphoid satellite DNA from chr 1 (probe p308);
  • Gene: [01q12/FRA1J] fragile site 1q12, 5-azacytidine type, common;
  • Gene: [01q2/ABL2] Abelson murine leukemia viral oncogene homolog 2 (arg); protein tyrosine kinase ABL2;
  • Gene: [01q2/ALDH9] aldehyde dehydrogenase 9, E3 isozyme (EC:1.2.1.3); gamma-aminobutyraldehyde dehydrogenase (EC:1.2.1.19);
  • Gene: [01q2/APCS] amyloid P component, serum; pentaxin-related; [SAP PTX2 ]
  • Gene: [01q2/APOA2] apolipoprotein A-II;
  • Gene: [01q2/ATP1A2] ATPase, Na+,K+ transporting, alpha 2 (+) polypeptide;
  • Gene: [01q2/ATP1AL2] ATPase, Na+,K+ transporting, alpha polypeptide-like 2;
  • Gene: [01q2/ATP1B1] ATPase, Na+,K+ transporting, beta 1 polypeptide;
  • Gene: [01q2/CD1A] antigen CD1A, A polypeptide (T cell surface glycoprotein Thy-A); [THYA HTA1 LEU ]
  • Gene: [01q2/CD1B] antigen CD1B, B polypeptide (T cell surface glycoprotein Thy-B); [THYB ]
  • Gene: [01q2/CD1C] antigen CD1C, C polypeptide (T cell surface glycoprotein Thy-C); [THYC ]
  • Gene: [01q2/CD1D] antigen CD1D, D polypeptide (T cell surface glycoprotein Thy-D); [THYD R3G1 ]
  • Gene: [01q2/CD1E] antigen CD1E, E polypeptide (T cell surface glycoprotein Thy-E); [THYE ]
  • Gene: [01q2/CD48] antigen CD48 (B cell activation marker Blast-1); [BLAST1 BCM1 ]
  • Gene: [01q2/CD5L] CD5 antigen-like (scavenger receptor cysteine rich family); [Spalpha ]
  • Gene: [01q2/COPA] alpha coat protein (coatomer protein complex, subunit alpha; 160kD); [HEP-COP ]
  • Gene: [01q2/CRPP1] C-reactive protein pseudogene 1;
  • Gene: [01q2/CRP] C-reactive protein;
  • Gene: [01q2/DFNA7] deafness, autosomal dominant 7;
  • Gene: [01q2/EFNA1] ephrin-A1; eph-related receptor tyrosine kinase ligand 1; tumor necrosis factor, alpha-induced protein 4; [EPLG1 ]
  • Gene: [01q2/EFNA3] ephrin-A3; eph-related receptor tyrosine kinase ligand 3; [EPLG3 LERK3 ]
  • Gene: [01q2/EFNA4] ephrin-A4; eph-related receptor tyrosine kinase ligand 4; [EPLG4 LERK4 ]
  • Gene: [01q2/ETV3] ets translocation variant gene 3 (PE-1 oncogene); [PE-1 ]
  • Gene: [01q2/F5] coagulation factor V (proaccelerin, labile factor); Owren parahemophilia (congenital factor V deficiency);
  • Gene: [01q2/FMO1] flavin containing monooxygenase 1/2 (fetal liver);
  • Gene: [01q2/FMO3] flavin containing monooxygenase 3 (adult liver); trimethylaminuria (fish-odor syndrome; MIM:602079);
  • Gene: [01q2/FMO4] flavin containing monooxygenase 4 (adult liver);
  • Gene: [01q2/FY] Duffy blood group (glycoprotein D); [GPD ]
  • Gene: [01q2/GJA8] gap junction protein, alpha 8, 50kD (connexin 50); lens intrinsic membrane protein MP70; cataract, zonular pulverulent 1 (FY-linked; MIM:116200); [CX50 MP70 ]
  • Gene: [01q2/H2AFQ] H2A histone family, member Q; [H2A/q ]
  • Gene: [01q2/HPC1] hereditary prostate cancer 1;
  • Gene: [01q2/HSPCAL1] heat shock 90kD protein, alpha-like 1;
  • Gene: [01q2/KCNJ9] potassium inwardly-rectifying channel, subfamily J, member 9; G-protein coupled potassium inwardly-rectifying channel subfamily, member 3; [GIRK3 Kir3.3 ]
  • Gene: [01q2/LMX1A] LIM homeobox transcription factor 1, alpha;
  • Gene: [01q2/LY9] lymphocyte antigen 9 (mouse) homolog;
  • Gene: [01q2/MHP2] migraine, hemiplegic 2;
  • Gene: [01q2/MYOC] myocilin; trabecular meshwork inducible glucocorticoid response protein (TIGR); glaucoma 1, open angle, A (juvenile onset; MIM:137750); [GLC1A JOAG ]
  • Gene: [01q2/NTD1] loop-tail (Lp mouse) homolog; neural tube defect 1, anencephaly (cranio-rachischisis);
  • Gene: [01q2/NTRK1] neurotrophic tyrosine kinase, receptor, type 1; tyrosine kinase 70 kD (oncogene TRK, MIM:164970); neuropathy, congenital sensory, with anhidrosis (MIM:256800);
  • Gene: [01q2/NTRKR3] neurotrophic tyrosine kinase receptor-related 3; protein tyrosine kinase TYRO10;
  • Gene: [01q2/PIGC] phosphatidylinositol glycan, class C;
  • Gene: [01q2/POU2F1] POU domain, class 2, transcription factor 1; octamer-binding transcription factor 1 (B-cell specific); [OTF1 OCT1 ]
  • Gene: [01q2/PTPN2P1] protein tyrosine phosphatase, non-receptor type 2 (pseudogene 1); [PTPTP1 ]
  • Gene: [01q2/RRM2P2] ribonucleotide reductase M2 polypeptide pseudogene 2;
  • Gene: [01q2/RXRG] retinoid X receptor, gamma;
  • Gene: [01q2/SELE] selectin E; endothelial leukocyte adhesion molecule 1; [ELAM1 ]
  • Gene: [01q2/SELL] selectin L; lymphocyte adhesion molecule 1 (lymph node homing receptor); [LYAM1 LAM1 ]
  • Gene: [01q2/SELP] selectin P; granulocyte membrane protein (140 kD; GMP-140); antigen CD62; myocardial infarction, negative association with?; [GRMP GMP140 ]
  • Gene: [01q2/SKI] avian sarcoma viral cell homolog; [SK ]
  • Gene: [01q2/SSR2] signal sequence receptor, beta (22kD); translocon-associated protein, beta; [TRAPB TLAP ]
  • Gene: [01q2/TCR2Z] T cell receptor, signal T3-zeta polypeptide (TiT3 complex); antigen CD3Z/T3, zeta polypeptide (T cell receptor); immunodeficiency combined (low expression T3-zeta chain); [CD3Z T3Z ]
  • Gene: [01q2/TOP1P1] topoisomerase (DNA) I pseudogene 1;
  • Gene: [01q2/TPM3] tropomyosin 3 (non-muscle); nemaline myopathy 1, autosomal dominant (MIM:161800); [NEM1 TPM ]
  • Gene: [01q2/TREL1] tRNA glutamic acid-like 1;
  • Gene: [01q2/UGP1] UDP-glucose pyrophosphorylase 1;
  • Gene: [01q2/USF1] upstream transcription factor 1;
  • Gene: [01q2/VDAC4] voltage-dependent anion channel 4;
  • Gene: [01q21/A12M3] adenovirus-12 chromosome modification site 1B;
  • Gene: [01q21/ADAR] adenosine deaminase, RNA-specific (136kD);
  • Gene: [01q21/ARNT] aryl hydrocarbon receptor nuclear translocator; dioxin receptor nuclear translocator;
  • Gene: [01q21/BCL9] B-cell chronic lymphatic leukemia 9 (B-CLL: lymphoma 9);
  • Gene: [01q21/CASQ1] calsequestrin 1, fast-twitch, skeletal muscle; [CASQ ]
  • Gene: [01q21/CLK2] CDC-like kinase 2;
  • Gene: [01q21/CTSK] cathepsin K (cathepsin O1; cathepsin O2; cathepsin X); pycnodysostosis (cathepsin K deficiency; MIM:265800);
  • Gene: [01q21/CTSS] cathepsin S;
  • Gene: [01q21/DAP3] death-associated protein 3;
  • Gene: [01q21/ECM1] extracellular matrix protein 1 (secretory component p85);
  • Gene: [01q21/FLG] filaggrin (intermediate filament-associated protein); ichthyosis vulgaris (liability?);
  • Gene: [01q21/FRA1F] fragile site 1q21, aphidicolin type, common;
  • Gene: [01q21/GCGDP] glucocerebrosidase, pseudogene; [GBAP ]
  • Gene: [01q21/GCGD] glucocerebrosidase (D-glucosyl-N-acylsphingosine glucohydrolase); Gaucher disease, type I, noncerebral juvenile (glucocerebrosidase deficiency); Gaucher disease, type II, cerebral infantile (glucocerebrosidase deficiency;
  • Gene: [01q21/GRP58P] glucose regulated protein, 58kD pseudogene;
  • Gene: [01q21/H1F2] H1 histone family, member 2;
  • Gene: [01q21/H2A2] H2A histone family, member 2; [H2A ]
  • Gene: [01q21/H2B2] H2B histone family, member 2; [H2B ]
  • Gene: [01q21/H3F2] histone H3, family 2;
  • Gene: [01q21/H4F2] histone H4, family 2;
  • Gene: [01q21/IGHGR1A] immunoglobulin G Fc-receptor Ia (high-affinity); high-affinity p72 Fc/gamma-R protein (IgG receptor Ia); [FCGR1A FCGR1 ]
  • Gene: [01q21/IGHGR1C] immunoglobulin G Fc-receptor Ic (high-affinity); [FCGR1C CD64 ]
  • Gene: [01q21/IL6R] interleukin 6 receptor (antigen CD126);
  • Gene: [01q21/IVL] involucrin;
  • Gene: [01q21/LFP] lipodystrophy, familial partial; [FPL FPLD PFL ]
  • Gene: [01q21/LMNAC] lamin A/C; [LMNA LMN1 ]
  • Gene: [01q21/LOR] loricrin;
  • Gene: [01q21/MCL1] myeloid cell leukemia sequence 1 (BCL2-related);
  • Gene: [01q21/MCSP] mitochondrial capsule selenoprotein;
  • Gene: [01q21/MTXP] metaxin pseudogene; [psMTX ]
  • Gene: [01q21/MTX] metaxin;
  • Gene: [01q21/MUC1] mucin 1, urinary (epithelial; peanut lectin binding); episialin (carcinoma-associated mucin 1); breast carcinoma-associated antigen DF3 (mucin 1; episialin); [BCAM DF3 EMA ]