All genes

140 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
ACD ACD shelterin complex subunit and telomerase recruitment factor 16 q22.1 1 2 2 2024-10-21 -
AIP aryl hydrocarbon receptor interacting protein 11 q13.2 1 2 2 2024-07-05 -
AKT1 AKT serine/threonine kinase 1 14 q32.33 1 1 1 2024-09-02 -
ALK ALK receptor tyrosine kinase 2 p23.2-p23.1 2 19 19 2024-10-21 -
APC adenomatous polyposis coli 5 q21-q22 4 230 92 2024-11-11 -
ASS1 argininosuccinate synthase 1 9 q34.11 1 - - N/A -
ATM ATM serine/threonine kinase 11 q22.3 2 331 165 2024-11-01 -
AXIN2 axin 2 17 q24.1 1 4 4 2023-03-29 -
BAP1 BRCA1 associated protein 1 3 p21.1 2 12 12 2024-08-05 -
BARD1 BRCA1 associated RING domain 1 2 q35 2 133 39 2024-10-10 -
BLM BLM RecQ like helicase 15 q26.1 1 18 17 2024-11-01 -
BMPR1A bone morphogenetic protein receptor type 1A 10 q23.2 1 8 6 2023-10-25 -
BRCA1 BRCA1, DNA repair associated 17 q21.31 2 3027 205 2024-11-11 -
BRCA2 BRCA2, DNA repair associated 13 q13.1 2 3377 278 2024-12-04 -
BRIP1 BRCA1 interacting protein C-terminal helicase 1 17 q23.2 2 124 37 2024-12-09 -
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B 15 q15.1 1 1 1 2024-10-21 -
CASR calcium sensing receptor 3 q13.33-q21.1 1 4 4 2024-06-13 -
CDC73 cell division cycle 73 1 q31.2 2 6 5 2024-11-11 -
CDH1 cadherin 1 16 q22.1 1 105 24 2024-07-22 -
CDK12 cyclin dependent kinase 12 17 q12 1 1 1 2023-05-10 -
CDK4 cyclin dependent kinase 4 12 q14.1 - - - N/A -
CDKN1B cyclin dependent kinase inhibitor 1B 12 p13.1 1 1 1 2023-03-26 -
CDKN1C cyclin dependent kinase inhibitor 1C 11 p15.4 2 3 3 2023-11-28 -
CDKN2A cyclin dependent kinase inhibitor 2A 9 p21.3 2 8 6 2024-09-19 -
CEBPA CCAAT enhancer binding protein alpha 19 q13.11 1 4 3 2024-01-17 -
CEP57 centrosomal protein 57 11 q21 8 1 1 2023-03-21 -
CFTR CF transmembrane conductance regulator 7 q31.2 1 1 1 2024-11-11 -
CHEK2 checkpoint kinase 2 22 q12.1 4 130 68 2024-11-01 -
COL1A1 collagen type I alpha 1 chain 17 q21.33 1 1 1 2024-10-03 -
CTC1 CST telomere replication complex component 1 17 p13.1 1 5 5 2024-12-20 -
CTNNA1 catenin alpha 1 5 q31.2 1 1 1 2023-03-26 -
DICER1 dicer 1, ribonuclease III 14 q32.13 3 16 14 2024-09-18 -
DIS3L2 DIS3 like 3'-5' exoribonuclease 2 2 q37.1 1 8 8 2024-11-11 -
DLX5 distal-less homeobox 5 7 q21.3 - - - N/A -
EGFR epidermal growth factor receptor 7 p11.2 1 6 6 2024-01-16 -
EGLN1 egl-9 family hypoxia inducible factor 1 1 q42.2 1 - - N/A -
EPCAM epithelial cell adhesion molecule 2 p21 1 47 18 2024-09-12 -
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit 19 q13.32 1 3 3 2024-10-03 -
ERCC4 ERCC excision repair 4, endonuclease catalytic subunit 16 p13.12 2 2 2 2024-07-18 -
ERCC5 ERCC excision repair 5, endonuclease 13 q33.1 2 3 3 2024-12-20 -
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit 7 q36.1 - - - N/A -
FAN1 FANCD2 and FANCI associated nuclease 1 15 q13.3 2 1 1 2024-09-30 -
FANCA FA complementation group A 16 q24.3 1 17 16 2024-11-01 -
FANCC FA complementation group C 9 q22.32 1 16 12 2024-11-01 -
FANCD2 FA complementation group D2 3 p25.3 1 3 3 2024-11-14 -
FANCE FA complementation group E 6 p21.31 1 1 1 2024-10-21 -
FANCF FA complementation group F 11 p14.3 1 3 2 2024-10-10 -
FANCG FA complementation group G 9 p13.3 1 1 1 2024-10-10 -
FANCI FA complementation group I 15 q26.1 1 9 9 2024-11-11 -
FANCM FA complementation group M 14 q21.2 2 34 27 2024-11-14 -
FH fumarate hydratase 1 q43 1 5 4 2024-03-26 -
FLCN folliculin 17 p11.2 2 15 11 2024-07-18 -
G6PC1 glucose-6-phosphatase catalytic subunit 1 17 q21.31 1 1 1 2024-09-30 -
GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 9 q22.33 1 3 3 2024-10-23 -
GATA2 GATA binding protein 2 3 q21.3 1 3 3 2024-04-08 -
GJB2 gap junction protein beta 2 13 q12.11 1 1 1 2024-09-30 -
GREM1 gremlin 1, DAN family BMP antagonist 15 q13.3 1 1 1 2023-03-22 -
HFE homeostatic iron regulator 6 p22.2 2 - - N/A -
HOXB13 homeobox B13 17 q21.32 2 6 6 2024-12-20 -
HRAS HRas proto-oncogene, GTPase 11 p15.5 1 1 1 2023-03-29 -
IGHMBP2 immunoglobulin mu DNA binding protein 2 11 q13.3 1 1 1 2024-10-03 -
KIF1B kinesin family member 1B 1 p36.22 1 - - N/A -
KIT KIT proto-oncogene, receptor tyrosine kinase 4 q12 1 1 1 2024-10-10 -
LZTR1 leucine zipper like transcription regulator 1 22 q11.21 3 11 11 2024-10-24 -
MAX MYC associated factor X 14 q23.3 1 - - N/A -
MEN1 menin 1 11 q13 4 4 4 2024-10-07 -
MERTK MER proto-oncogene, tyrosine kinase 2 q13 1 1 1 2024-10-21 -
MET MET proto-oncogene, receptor tyrosine kinase 7 q31 3 21 12 2024-11-11 -
MITF melanogenesis associated transcription factor 3 p13 1 5 3 2024-11-11 -
MLH1 mutL homolog 1 3 p22.3 2 262 88 2024-09-16 -
MRE11 MRE11 homolog, double strand break repair nuclease 11 q21 1 6 6 2024-11-11 -
MSH2 mutS homolog 2 2 p21 1 239 81 2024-10-21 -
MSH3 mutS homolog 3 5 q14.1 1 14 11 2024-10-10 -
MSH6 mutS homolog 6 2 p16 1 372 78 2024-11-11 -
MUTYH mutY DNA glycosylase 1 p34.1 4 162 39 2024-10-21 -
MYCN MYCN proto-oncogene, bHLH transcription factor 2 p24.3 1 - - N/A -
NBAS NBAS subunit of NRZ tethering complex 2 p24.3 1 - - N/A -
NBN nibrin 8 q21.3 1 114 26 2024-11-14 -
NF1 neurofibromin 1 17 q11.2 2 39 25 2024-11-11 -
NF2 neurofibromin 2 22 q12.2 1 6 6 2024-08-19 -
NSD1 nuclear receptor binding SET domain protein 1 5 q35.3 1 1 1 2024-10-21 -
NTHL1 nth like DNA glycosylase 1 16 p13.3 1 7 3 2024-10-07 -
PAH phenylalanine hydroxylase 12 q23.2 1 1 1 2024-09-30 -
PALB2 partner and localizer of BRCA2 16 p12.2 2 175 61 2024-09-18 -
PDGFRA platelet derived growth factor receptor alpha 4 q12 2 13 12 2024-10-10 -
PHOX2B paired like homeobox 2B 4 p13 1 1 1 2023-03-29 -
PMS1 PMS1 homolog 1, mismatch repair system component 2 q32.2 1 3 3 2024-09-05 -
PMS2 PMS1 homolog 2, mismatch repair system component 7 p22.1 2 357 68 2024-10-03 -
POLD1 DNA polymerase delta 1, catalytic subunit 19 q13.3 2 24 20 2024-11-11 -
POLE DNA polymerase epsilon, catalytic subunit 12 q24.33 2 48 45 2024-11-11 -
POLG DNA polymerase gamma, catalytic subunit 15 q26.1 1 - - 2019-07-12 -
POLH DNA polymerase eta 6 p21.1 1 1 1 2024-10-10 -
POT1 protection of telomeres 1 7 q31.33 1 2 2 2024-09-05 -
PRF1 perforin 1 10 q22.1 1 1 1 2024-10-03 -
PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha 17 q24.2 1 1 1 2023-05-08 -
PTCH1 patched 1 9 q22.32 1 9 8 2024-10-07 -
PTCH2 patched 2 1 p34.1 1 1 1 2023-11-28 -
PTEN phosphatase and tensin homolog 10 q23.31 1 19 11 2024-03-11 -
RAD50 RAD50 double strand break repair protein 5 q31.1 1 22 16 2024-11-01 -
RAD51B RAD51 paralog B 14 q24.1 1 4 4 2024-10-10 -
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