All genes

112 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 10 0 0 2018-12-06 -
ACTC1 actin, alpha, cardiac muscle 1 15 q14 1 0 0 2018-11-13 -
ACTN2 actinin, alpha 2 1 q42-q43 5 0 0 2018-11-13 -
AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 7 q21-q22 1 0 0 N/A -
ANK2 ankyrin 2, neuronal 4 q25-q26 1 0 0 N/A -
APC adenomatous polyposis coli 5 q21-q22 1 0 0 N/A -
AXIN2 axin 2 17 q23-q24 1 0 0 N/A -
BARD1 BRCA1 associated RING domain 1 2 q34-q35 1 0 0 N/A -
BCL11A B cell CLL/lymphoma 11A 2 p16.1 1 27 20 2018-12-09 -
BRCA1 BRCA1, DNA repair associated 17 q21.31 2 0 0 2018-11-14 -
BRCA2 BRCA2, DNA repair associated 13 q13.1 1 0 0 N/A -
BRIP1 BRCA1 interacting protein C-terminal helicase 1 17 q22.2 1 0 0 N/A -
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12 p13.3 1 0 0 N/A -
CAV3 caveolin 3 3 p25 1 0 0 N/A -
CDC73 cell division cycle 73 1 q25 1 0 0 N/A -
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 16 q22.1 1 0 0 N/A -
CHEK2 checkpoint kinase 2 22 q12.1 1 0 0 N/A -
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) 11 p15.1 1 0 0 N/A -
CTF1 cardiotrophin 1 16 p11.2 1 0 0 N/A -
DES desmin 2 q35 1 0 0 N/A -
DSC2 desmocollin 2 18 q12.1 1 0 0 N/A -
DSG2 desmoglein 2 18 q12.1 1 0 0 N/A -
DSP desmoplakin 6 p24.3 1 0 0 N/A -
ELAC2 elaC homolog 2 (E. coli) 17 p11.2 1 0 0 N/A -
EMD emerin X q27.3-q28 1 0 0 N/A -
EPCAM epithelial cell adhesion molecule 2 p21 1 0 0 N/A -
FH fumarate hydratase 1 q42.1 1 0 0 N/A -
FRAS1 Fraser extracellular matrix complex subunit 1 4 q21.21 1 0 0 N/A -
FREM1 FRAS1 related extracellular matrix 1 9 p22.3 1 0 0 N/A -
FREM2 FRAS1 related extracellular matrix protein 2 13 q13.3 1 0 0 N/A -
GATA1 GATA binding protein 1 X p11.23 1 0 0 N/A -
GJB6 gap junction protein, beta 6, 30kDa 13 q12 1 0 0 N/A -
GLA galactosidase, alpha X q21.3-q22 1 0 0 N/A -
HBA1 hemoglobin subunit alpha 1 16 p13.3 1 46 45 2018-12-09 -
HBA2 hemoglobin subunit alpha 2 16 p13.3 1 58 57 2018-12-09 -
HBB hemoglobin subunit beta 11 p15.4 1 693 646 2018-12-09 -
HBD hemoglobin subunit delta 11 p15.4 1 35 31 2018-12-09 -
HBE1 hemoglobin subunit epsilon 1 11 p15.4 1 14 7 2018-12-09 -
HBG1 hemoglobin subunit gamma 1 11 p15.4 1 29 21 2018-12-09 -
HBG2 hemoglobin subunit gamma 2 11 p15.4 1 30 19 2018-12-09 -
HBS1L HBS1 like translational GTPase 6 q23.3 1 30 29 N/A -
HDAC6 histone deacetylase 6 X p11.23 1 0 0 N/A -
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 9 q22 1 0 0 N/A -
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 1 p12 1 0 0 N/A -
JAG1 jagged 1 20 p12.1-p11.23 1 0 0 N/A -
KCNE1 potassium voltage-gated channel, Isk-related family, member 1 21 q22.1-q22.2 1 0 0 N/A -
KCNE2 potassium voltage-gated channel, Isk-related family, member 2 21 q22.1 1 0 0 N/A -
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 7 q36.1 1 0 0 N/A -
KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 17 q24.3 1 0 0 N/A -
KCNJ5 potassium inwardly-rectifying channel, subfamily J, member 5 11 q24 1 0 0 N/A -
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 11 p15.5 1 0 0 N/A -
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 4 q11-q12 1 0 0 N/A -
KLF1 Kruppel like factor 1 19 p13.13 1 27 23 2018-12-09 -
KRT1 keratin 1 12 q13.13 1 0 0 N/A -
KRT10 keratin 10 17 q21.2 1 0 0 N/A -
KRT14 keratin 14 17 q21.2 1 0 0 N/A -
KRT5 keratin 5 12 q13.13 1 0 0 N/A -
KRT9 keratin 9 17 q21.1-q21.2 1 0 0 N/A -
LAMP2 lysosomal-associated membrane protein 2 X q24-q25 1 0 0 N/A -
LDB3 LIM domain binding 3 10 q22.3-q23.2 1 0 0 N/A -
LMBRD1 LMBR1 domain containing 1 6 q13 1 0 0 N/A -
LMNA lamin A/C 1 q22 1 0 0 N/A -
MCEE methylmalonyl CoA epimerase 2 p13.3 1 0 0 N/A -
MET met proto-oncogene (hepatocyte growth factor receptor) 7 q31 1 0 0 N/A -
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 3 p22.3 1 0 0 N/A -
MLH3 mutL homolog 3 (E. coli) 14 q24.3 1 0 0 N/A -
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 4 q31.1 1 0 0 N/A -
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type 12 q24 1 0 0 N/A -
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 1 p34.1 1 0 0 N/A -
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 2 q23 1 0 0 N/A -
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 11 q21 1 0 0 N/A -
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 2 p21 1 0 0 N/A -
MSH6 mutS homolog 6 (E. coli) 2 p16 1 0 0 N/A -
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1 q43 1 0 0 N/A -
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 5 p15.31 1 0 0 N/A -
MUT methylmalonyl CoA mutase 6 p21 1 0 0 N/A -
MYB MYB proto-oncogene, transcription factor 6 q23.3 1 14 13 N/A -
MYBPC3 myosin binding protein C, cardiac 11 p11.2 1 0 0 N/A -
MYH7 myosin, heavy chain 7, cardiac muscle, beta 14 q11.2-q13 1 0 0 N/A -
MYL2 myosin, light chain 2, regulatory, cardiac, slow 12 q24.11 1 0 0 N/A -
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 3 p 1 0 0 N/A -
NBN nibrin 8 q21-q24 1 0 0 N/A -
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 1 p36.22 1 0 0 N/A -
NOTCH2 notch 2 1 p13-p11 1 0 0 N/A -
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1 q21-q22 1 0 0 N/A -
PALB2 partner and localizer of BRCA2 16 p12.1 1 0 0 N/A -
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 4 q12 1 0 0 N/A -
PKP2 plakophilin 2 12 p11 1 0 0 N/A -
PLN phospholamban 6 q22.1 1 0 0 N/A -
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 2 q31-q33 1 0 0 N/A -
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 7 p22.1 1 0 0 N/A -
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 7 q35-q36 1 0 0 N/A -
PTCH1 patched 1 9 q22.1-q31 1 0 0 N/A -
PTEN phosphatase and tensin homolog 10 q23 1 0 0 N/A -
RAD50 RAD50 homolog (S. cerevisiae) 5 q23-q31 1 0 0 N/A -
RAD51C RAD51 homolog C (S. cerevisiae) 17 q25.1 1 0 0 N/A -
RET ret proto-oncogene 10 q11.2 1 0 0 N/A -
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 1 q25 1 0 0 N/A -
SCN4B sodium channel, voltage-gated, type IV, beta subunit 11 q23.3 1 0 0 N/A -
SCN5A sodium channel, voltage-gated, type V, alpha subunit 3 p21 1 0 0 N/A -
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