View all genes

58 entries on 1 page. Showing entries 1 - 58.

AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ABCC8 ATP binding cassette subfamily C member 8 11 p15.1 1 2 2 2020-03-03 NIDDM
AIP aryl hydrocarbon receptor interacting protein 11 q13.2 1 2 2 2020-03-03 PA, ACTH
ATM ATM serine/threonine kinase 11 q22.3 1 2 1 2018-12-07 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
BAP1 BRCA1 associated protein 1 3 p21.1 1 1 1 2020-03-03 TPDS
BLK BLK proto-oncogene, Src family tyrosine kinase 8 p23.1 1 1 1 2020-03-03 MODY 11
BRCA1 BRCA1, DNA repair associated 17 q21.31 1 13 12 2020-10-08 BROVCA1
BRCA2 BRCA2, DNA repair associated 13 q13.1 1 17 17 2021-12-06 BREAST CANCER, BROVCA2
BRIP1 BRCA1 interacting protein C-terminal helicase 1 17 q23.2 1 1 1 2018-12-07 BREAST CANCER
CDH1 cadherin 1 16 q22.1 1 2 2 2020-03-03 BREAST CANCER, GC
CEL carboxyl ester lipase 9 q34.13 1 1 1 2020-10-08 MODY8
CFTR cystic fibrosis transmembrane conductance regulator 7 q31.2 1 3 3 2020-10-08 CF, PCTT
CHEK2 checkpoint kinase 2 22 q12.1 1 6 6 2020-03-03 BREAST CANCER
COL5A2 collagen type V alpha 2 chain 2 q32.2 1 1 1 2022-06-29 EDSCL2
CPA1 carboxypeptidase A1 7 q32.2 1 1 1 2018-01-25 -
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 -
FANCA FA complementation group A 16 q24.3 1 1 1 2020-03-03 FANCA
FANCM FA complementation group M 14 q21.2 1 1 1 2018-12-07 BREAST CANCER
FBN1 fibrillin 1 15 q21.1 1 2 2 2022-02-07 MFS1
FGFR3 fibroblast growth factor receptor 3 4 p16.3 1 0 0 N/A ACH, HCH
GCK glucokinase 7 p15.3-p15.1 1 3 3 2020-10-08 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 5 5 2021-11-30 MODY3
HNF1B HNF1 homeobox B 17 q12 1 1 1 2019-05-21 MODY5
HNF4A hepatocyte nuclear factor 4 alpha 20 q13.12 1 2 2 2019-05-21 MODY1
KRAS KRAS proto-oncogene, GTPase 12 p12.1 2 2 1 2020-10-08 NS3
LPIN2 lipin 2 18 p11.31 1 1 1 2021-02-05 MJDS
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
MET MET proto-oncogene, receptor tyrosine kinase 7 q31 1 1 1 2018-12-07 HPRCC
MLH1 mutL homolog 1 3 p22.3 1 4 4 2021-06-15 HNPCC2
MSH2 mutS homolog 2 2 p21 1 4 4 2022-02-14 HNPCC1
MSH6 mutS homolog 6 2 p16 1 3 3 2020-03-03 HNPCC5
MUTYH mutY DNA glycosylase 1 p34.1 1 2 2 2020-03-03 FAP2
NEUROD1 neuronal differentiation 1 2 q31.3 1 1 1 2019-05-21 MODY6
NF1 neurofibromin 1 17 q11.2 1 7 6 2020-03-03 NF1
NOD2 nucleotide binding oligomerization domain containing 2 16 q12.1 1 1 1 2020-10-08 BLAUS, YAOS
PALB2 partner and localizer of BRCA2 16 p12.2 1 3 3 2020-03-03 BREAST CANCER, FANCN, PNCA3
PAX4 paired box 4 7 q32.1 1 0 0 N/A MODY 9
PMS2 PMS1 homolog 2, mismatch repair system component 7 p22.1 1 3 3 2020-10-08 HNPCC4
PROC protein C, inactivator of coagulation factors Va and VIIIa 2 q13-q14 1 1 1 2021-12-06 THPH3
PROS1 protein S (alpha) 3 q11.1 1 2 2 2022-09-06 THPH5
PRSS1 protease, serine 1 7 q34 1 0 0 2016-07-11 PCTT
PTCH1 patched 1 9 q22.32 1 1 1 2018-12-07 -
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 3 3 2018-12-07 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
STK11 serine/threonine kinase 11 19 p13.3 1 1 1 2019-02-21 PJS
TP53 tumor protein p53 17 p13.1 1 4 3 2018-12-07 BREAST CANCER, LFS1