View all genes

31 entries on 1 page. Showing entries 1 - 31.

AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 X q28 1 0 0 N/A NEU-ALD
APC adenomatous polyposis coli 5 q21-q22 1 0 0 N/A CAN-FAP1
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 0 0 N/A END-WD
BRAF B-Raf proto-oncogene, serine/threonine kinase 7 q34 1 0 0 N/A -
BRCA1 breast cancer 1, early onset 17 q21.31 1 0 0 N/A CAN-BRCA
BRCA2 breast cancer 2, early onset 13 q12-q13 1 0 0 N/A CAN-BRCA
BSND barttin CLCNK-type chloride channel accessory beta subunit 1 p32.3 1 0 0 N/A KID-BSND
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 7 q31-q32 1 0 0 N/A END-CF
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 2 q35 1 0 0 N/A NEU-CTX
DMD dystrophin X p21.2 1 0 0 N/A NEU-DMD
GH1 growth hormone 1 17 q22-q24 1 0 0 N/A END-IGHD1A
GJB1 gap junction protein, beta 1, 32kDa X q13.1 1 0 0 N/A NEU-CMTX1
GJB2 gap junction protein, beta 2, 26kDa 13 q11-q12 0 0 0 N/A SEN-DFNB1A
MECP2 methyl CpG binding protein 2 X q28 1 0 0 N/A NEU-RTT
MEN1 multiple endocrine neoplasia I 11 q13 1 0 0 N/A CAN-MEN1
MLH1 mutL homolog 1 3 p22.3 1 12 11 2014-10-27 CAN-COL, CAN-LYNCH
MPZ myelin protein zero 1 q22 1 0 0 N/A NEU-CMTX0
MSH2 mutS homolog 2 2 p21 1 13 10 2014-10-27 CAN-COL, CAN-LYNCH
MSH6 mutS homolog 6 2 p16 1 0 0 N/A CAN-COL, CAN-LYNCH
NF1 neurofibromin 1 17 q11.2 1 0 0 N/A NEU-NF1
NOTCH3 notch 3 19 p13.2-p13.1 1 0 0 N/A CAR-CADASIL
OCRL oculocerebrorenal syndrome of Lowe X q25 1 0 0 N/A KID-OCRL
PARK2 parkin RBR E3 ubiquitin protein ligase 6 q25.2-q27 1 0 0 N/A NEU-PARK2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 7 p22.1 1 0 0 N/A CAN-COL, CAN-LYNCH
RB1 retinoblastoma 1 13 q14.2 1 163 116 2014-11-11 CAN-RB1
RPGR retinitis pigmentosa GTPase regulator X p11.4 1 0 0 N/A SEN-RP3
RS1 retinoschisin 1 X p22.2-p22.1 1 0 0 N/A SEN-RS1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 14 q32.1 1 0 0 N/A -
SPAST spastin 2 p24-p21 1 0 0 N/A NEU-SPG4
TP53 tumor protein p53 17 p13.1 1 0 0 N/A CAN-LFS1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 3 p25.3 2 0 0 N/A -