View all genes

37 entries on 1 page. Showing entries 1 - 37.

AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AIP aryl hydrocarbon receptor interacting protein 11 q13.2 1 1 1 2017-05-15 PA, ACTH
ATM ATM serine/threonine kinase 11 q22.3 1 1 1 2017-05-15 BREAST CANCER
ATP7B ATPase copper transporting beta 13 q14.3 1 0 0 N/A WD
ATXN3 ataxin 3 14 q21 1 0 0 N/A MJD
BRCA1 BRCA1, DNA repair associated 17 q21.31 1 4 4 2017-08-18 BROVCA1
BRCA2 BRCA2, DNA repair associated 13 q13.1 1 9 9 2017-07-28 BREAST CANCER, BROVCA2
CFTR cystic fibrosis transmembrane conductance regulator 7 q31.2 1 1 1 2017-06-21 CF, PCTT
CHEK2 checkpoint kinase 2 22 q12.1 1 0 0 N/A BREAST CANCER
CYP21A2 cytochrome P450 family 21 subfamily A member 2 6 p21.3 1 0 0 N/A CAH1
ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit 2 q14.3 1 2 2 2017-05-15 -
FGFR3 fibroblast growth factor receptor 3 4 p16.3 1 0 0 N/A ACH, HCH
GCK glucokinase 7 p15.3-p15.1 1 0 0 2016-07-11 MODY2
GJB2 gap junction protein beta 2 13 q11-q12 1 0 0 N/A DFNB1A
GLA galactosidase alpha X q21.3-q22 1 0 0 N/A FD
HBA1 hemoglobin subunit alpha 1 16 p13.3 1 0 0 2016-07-11 a-THAL
HBA2 hemoglobin subunit alpha 2 16 p13.3 1 1 1 2017-05-24 a-THAL
HBB hemoglobin subunit beta 11 p15.5 1 0 0 N/A b-THAL
HNF1A HNF1 homeobox A 12 q24.31 1 0 0 N/A MODY3
HNF1B HNF1 homeobox B 17 q12 1 0 0 N/A MODY5
HNF4A hepatocyte nuclear factor 4 alpha 20 q13.12 1 0 0 N/A MODY1
MECP2 methyl-CpG binding protein 2 X q28 1 0 0 N/A RTT
MEFV Mediterranean fever 16 p13.3 1 0 0 N/A FMF
MLH1 mutL homolog 1 3 p22.3 1 0 0 N/A HNPCC2
MSH2 mutS homolog 2 2 p21 1 1 1 2017-05-15 HNPCC1
MSH6 mutS homolog 6 2 p16 1 1 1 2017-05-15 HNPCC5
PALB2 partner and localizer of BRCA2 16 p12.2 1 1 1 2017-05-15 BREAST CANCER, FANCN, PNCA3
PMS2 PMS1 homolog 2, mismatch repair system component 7 p22.1 1 0 0 2016-07-11 HNPCC4
PROC protein C, inactivator of coagulation factors Va and VIIIa 2 q13-q14 1 0 0 N/A THPH3
PROS1 protein S (alpha) 3 q11.1 1 0 0 N/A THPH5
PRSS1 protease, serine 1 7 q34 1 0 0 2016-07-11 PCTT
PTPN11 protein tyrosine phosphatase, non-receptor type 11 12 q24.1 1 0 0 N/A NS1
RAD51C RAD51 paralog C 17 q25.1 1 2 2 2017-05-15 BROVCA3
RAD51D RAD51 paralog D 17 q11 1 1 1 2017-05-15 BROVCA4
SDHB succinate dehydrogenase complex iron sulfur subunit B 1 p36.13 1 1 1 2017-05-15 CWS2, GIST, PCZ, PGL4, PGSS
SHOX short stature homeobox X p22.33 and Yp11.32 1 0 0 N/A ISS
SPINK1 serine peptidase inhibitor, Kazal type 1 5 q32 1 0 0 2016-07-11 PCTT
TP53 tumor protein p53 17 p13.1 1 3 2 2017-05-15 BREAST CANCER, LFS1