All genes

129 entries on 2 pages. Showing entries 1 - 100.
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AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ABCC9 ATP binding cassette subfamily C member 9 12 p12.1 9 56 54 2019-04-08 WD
ACADM acyl-CoA dehydrogenase medium chain 1 p31.1 1 56 56 2023-07-01 MCADD, WD
ACADS acyl-CoA dehydrogenase short chain 12 q24.31 1 38 38 2023-07-01 SCADD, WD
ACADVL acyl-CoA dehydrogenase very long chain 17 p13.1 1 94 93 2023-07-01 VLCADD, WD
ACAT1 acetyl-CoA acetyltransferase 1 11 q22.3 1 28 28 2023-07-02 BKD, WD
ACTC1 actin, alpha, cardiac muscle 1 15 q14 1 27 21 2019-04-08 WD
ACTN2 actinin, alpha 2 1 q42-q43 5 78 72 2018-11-13 WD
AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 7 q21-q22 1 48 47 N/A WD
ANK2 ankyrin 2, neuronal 4 q25-q26 1 73 59 N/A WD
APC adenomatous polyposis coli 5 q21-q22 1 275 146 N/A WD
ATP7B ATPase copper transporting beta 13 q14.3 1 - - 2023-11-29 WD
AXIN2 axin 2 17 q23-q24 1 128 91 N/A WD
BARD1 BRCA1 associated RING domain 1 2 q34-q35 1 161 96 N/A WD
BCL11A B cell CLL/lymphoma 11A 2 p16.1 1 25 19 2019-04-25 WD
BRCA1 BRCA1, DNA repair associated 17 q21.31 2 229 132 2018-11-14 WD
BRCA2 BRCA2, DNA repair associated 13 q13.1 1 112 61 2019-04-15 WD
BRIP1 BRCA1 interacting protein C-terminal helicase 1 17 q22.2 1 180 127 N/A WD
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12 p13.3 1 7 6 N/A WD
CAV3 caveolin 3 3 p25 1 17 14 N/A WD
CDC73 cell division cycle 73 1 q25 1 125 89 N/A WD
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 16 q22.1 1 220 154 N/A WD
CHEK2 checkpoint kinase 2 22 q12.1 1 241 94 N/A WD
CPT1A carnitine palmitoyltransferase 1A 11 q13.3 1 27 27 2023-07-02 WD
CPT2 carnitine palmitoyltransferase 2 1 p32.3 1 15 15 2023-07-02 WD
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) 11 p15.1 1 36 27 N/A WD
CTF1 cardiotrophin 1 16 p11.2 1 6 5 N/A WD
DES desmin 2 q35 1 64 55 N/A WD
DSC2 desmocollin 2 18 q12.1 1 77 66 N/A WD
DSG2 desmoglein 2 18 q12.1 1 105 74 N/A WD
DSP desmoplakin 6 p24.3 1 185 171 N/A WD
ELAC2 elaC homolog 2 (E. coli) 17 p11.2 1 61 42 N/A WD
EMD emerin X q27.3-q28 1 49 44 N/A WD
EPCAM epithelial cell adhesion molecule 2 p21 1 46 45 N/A WD
ETFA electron transfer flavoprotein subunit alpha 15 q24.2-q24.3 1 6 6 2023-07-02 MADD, WD
ETFB electron transfer flavoprotein subunit beta 19 q13.41 1 2 2 2023-07-02 MADD, WD
ETFDH electron transfer flavoprotein dehydrogenase 4 q32.1 1 143 143 2023-07-02 MADD, WD
FH fumarate hydratase 1 q42.1 1 198 132 N/A WD
FRAS1 Fraser extracellular matrix complex subunit 1 4 q21.21 1 - - N/A WD
FREM1 FRAS1 related extracellular matrix 1 9 p22.3 1 2 2 N/A WD
FREM2 FRAS1 related extracellular matrix protein 2 13 q13.3 1 9 7 N/A WD
GATA1 GATA binding protein 1 X p11.23 1 7 7 2019-04-23 WD
GJB6 gap junction protein, beta 6, 30kDa 13 q12 1 - - N/A WD
GLA galactosidase, alpha X q21.3-q22 1 732 450 N/A WD
HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha 2 p23.3 1 2 2 2023-07-02 TFPD, WD
HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta 2 p23.3 1 14 14 2023-07-02 TFPD, WD
HBA1 hemoglobin subunit alpha 1 16 p13.3 1 46 45 2019-04-27 abnormal hemoglobin, alpha-thal, HbH, WD
HBA2 hemoglobin subunit alpha 2 16 p13.3 1 57 56 2019-04-27 abnormal hemoglobin, alpha-thal, HbH, WD
HBB hemoglobin subunit beta 11 p15.4 1 174 131 2019-04-25 abnormal hemoglobin, beta-thal, HPFH, WD
HBD hemoglobin subunit delta 11 p15.4 1 35 31 2019-04-19 abnormal hemoglobin, HPFH, WD
HBE1 hemoglobin subunit epsilon 1 11 p15.4 1 14 7 2019-04-25 abnormal hemoglobin, HPFH, WD
HBG1 hemoglobin subunit gamma 1 11 p15.4 1 28 21 2019-04-25 abnormal hemoglobin, HPFH, WD
HBG2 hemoglobin subunit gamma 2 11 p15.4 1 29 18 2019-04-25 abnormal hemoglobin, HPFH, WD
HBS1L HBS1 like translational GTPase 6 q23.3 1 31 29 2019-04-25 WD
HDAC6 histone deacetylase 6 X p11.23 1 1 1 N/A WD
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 9 q22 1 34 29 N/A WD
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 1 p12 1 88 58 N/A WD
JAG1 jagged 1 20 p12.1-p11.23 1 474 378 N/A WD
KCNE1 potassium voltage-gated channel, Isk-related family, member 1 21 q22.1-q22.2 1 117 63 N/A WD
KCNE2 potassium voltage-gated channel, Isk-related family, member 2 21 q22.1 1 54 38 N/A WD
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 7 q36.1 1 996 696 N/A WD
KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 17 q24.3 1 94 65 N/A WD
KCNJ5 potassium inwardly-rectifying channel, subfamily J, member 5 11 q24 1 4 4 N/A WD
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 11 p15.5 1 961 572 N/A WD
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 4 q11-q12 1 152 113 N/A WD
KLF1 Kruppel like factor 1 19 p13.13 2 23 19 2019-04-25 Hypochromic anemia, WD
KRT1 keratin 1 12 q13.13 1 - - N/A WD
KRT10 keratin 10 17 q21.2 1 - - N/A WD
KRT14 keratin 14 17 q21.2 1 - - N/A WD
KRT5 keratin 5 12 q13.13 1 - - N/A WD
KRT9 keratin 9 17 q21.1-q21.2 1 70 20 N/A WD
LAMP2 lysosomal-associated membrane protein 2 X q24-q25 1 45 41 N/A WD
LDB3 LIM domain binding 3 10 q22.3-q23.2 1 41 40 N/A WD
LMBRD1 LMBR1 domain containing 1 6 q13 1 73 63 N/A WD
LMNA lamin A/C 1 q22 1 475 229 N/A WD
MCEE methylmalonyl CoA epimerase 2 p13.3 1 20 17 N/A WD
MET met proto-oncogene (hepatocyte growth factor receptor) 7 q31 1 122 104 N/A WD
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 3 p22.3 1 140 90 N/A WD
MLH3 mutL homolog 3 (E. coli) 14 q24.3 1 54 48 N/A WD
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 4 q31.1 1 104 57 N/A WD
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type 12 q24 1 127 79 N/A WD
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 1 p34.1 1 371 77 N/A WD
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 2 q23 1 54 45 N/A WD
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 11 q21 1 35 34 N/A WD
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 2 p21 1 119 81 N/A WD
MSH6 mutS homolog 6 (E. coli) 2 p16 1 7 7 N/A WD
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1 q43 1 220 182 N/A WD
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 5 p15.31 1 161 123 N/A WD
MUT methylmalonyl CoA mutase 6 p21 1 632 319 N/A WD
MYB MYB proto-oncogene, transcription factor 6 q23.3 1 14 13 2019-04-25 WD
MYBPC3 myosin binding protein C, cardiac 11 p11.2 1 340 208 N/A WD
MYH7 myosin, heavy chain 7, cardiac muscle, beta 14 q11.2-q13 1 559 330 N/A WD
MYL2 myosin, light chain 2, regulatory, cardiac, slow 12 q24.11 1 33 20 N/A WD
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 3 p 1 19 19 N/A WD
NBN nibrin 8 q21-q24 1 92 59 N/A WD
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 1 p36.22 1 19 8 N/A WD
NOTCH2 notch 2 1 p13-p11 1 37 35 N/A WD
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1 q21-q22 1 122 104 N/A WD
PALB2 partner and localizer of BRCA2 16 p12.1 1 187 146 N/A WD
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 4 q12 1 72 66 N/A WD
PKP2 plakophilin 2 12 p11 1 206 136 N/A WD
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