View all genes

44 entries on 1 page. Showing entries 1 - 44.

AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
APC WNT signaling pathway regulator 5 q21-q22 3 1 1 2016-06-24 FAP1
APCS amyloid P component, serum 1 q23.2 1 1 1 2017-09-18 FAP
ATP6V1B1 ATPase H+ transporting V1 subunit B1 2 p13 1 1 1 2016-06-28 RTA
BRCA1 BRCA1, DNA repair associated 17 q21.31 6 2 2 2017-09-19 BROVCA2
BRCA2 BRCA2, DNA repair associated 13 q13.1 4 1 1 2016-06-24 BROVCA2
C1QA complement C1q A chain 1 p36.12 1 1 1 2017-09-18 FAP
C1QC complement C1q C chain 1 p36.11 2 0 0 2017-09-18 FAP
CFH complement factor H 1 q31.3 2 1 1 2017-09-19 -
CFHR5 complement factor H related 5 1 q31.3 2 0 0 2016-06-21 CFHR5D
CFTR cystic fibrosis transmembrane conductance regulator 7 q31.2 5 5 5 2017-09-18 CF
COL4A3 collagen type IV alpha 3 chain 2 q36-q37 8 1 1 2016-06-24 ATS
COL4A5 collagen type IV alpha 5 chain X q22 8 1 1 2016-06-23 ATS
CYP21A2 cytochrome P450 family 21 subfamily A member 2 6 p21.3 3 1 1 2016-06-24 CAH
ETHE1 ETHE1, persulfide dioxygenase 19 q13.32 4 1 1 2016-06-27 EE
EYA1 EYA transcriptional coactivator and phosphatase 1 8 q13.3 18 1 1 2016-06-24 BOR1
FMR1 fragile X mental retardation 1 X q27.3 7 0 0 2016-06-23 FXS
FXN frataxin 9 q21.11 3 1 1 2016-06-23 FRDA
G6PD glucose-6-phosphate dehydrogenase X q28 5 3 3 2017-09-20 G6PDD
GJB1 gap junction protein beta 1 X q13.1 3 0 0 2017-09-20 CMT2A1
GJB2 gap junction protein beta 2 13 q11-q12 2 1 1 2016-06-28 DFNB1A
GLB1 galactosidase beta 1 3 p22.3 3 2 2 2017-09-19 GM1G
HBA1 hemoglobin subunit alpha 1 16 p13.3 1 6 5 2016-07-04 α-thal
HBA2 hemoglobin subunit alpha 2 16 p13.3 1 8 8 2016-07-04 α-thal
HBB hemoglobin subunit beta 11 p15.5 1 19 17 2016-07-01 HPFH, SCD, β-Thal
HEXA hexosaminidase subunit alpha 15 q23 1 1 1 2017-09-20 TSD
HEXB hexosaminidase subunit beta 5 q13.3 2 1 1 2016-06-24 SD
HFE hemochromatosis 6 p21.3 13 2 2 2017-09-20 HH
HTT huntingtin 4 p16.3 1 1 1 2016-06-29 HD
LDLR low density lipoprotein receptor 19 p13.2 8 0 0 2016-06-23 FH
MEFV Mediterranean fever 16 - 2 8 8 2017-09-19 MEFV
MFN2 mitofusin 2 1 p36.22 6 1 1 2017-09-20 CMT2A1
MPZ myelin protein zero 1 q23.3 1 1 1 2017-09-20 CMT2A1
MTHFR methylenetetrahydrofolate reductase 1 p36.22 8 0 0 N/A -
MUC1 mucin 1, cell surface associated 1 q22 20 0 0 2016-06-23 MCKD1
NDP NDP, norrin cystine knot growth factor X p11.4-p11.3 1 0 0 2016-06-23 ND
PAH phenylalanine hydroxylase 12 q23.2 2 4 4 2017-09-20 PKU
PKD1 polycystin 1, transient receptor potential channel interacting 16 p13.3 20 1 1 2017-09-20 -
PKD2 polycystin 2, transient receptor potential cation channel 4 q22.1 5 2 2 2017-09-19 PKD2
PMP22 peripheral myelin protein 22 17 p12 8 1 1 2016-06-28 CMT2A1
RET ret proto-oncogene 10 q11.2 3 1 1 2016-06-29 FMTC
SLC3A1 solute carrier family 3 member 1 2 p16.3 2 1 1 2017-09-19 CSNU
SLC4A1 solute carrier family 4 member 1 (Diego blood group) 17 q21.31 5 0 0 2016-06-23 dRTA, RTA
SRD5A2 steroid 5 alpha-reductase 2 2 p23.1 6 2 2 2016-07-01 PPSH
TTR transthyretin 18 q12.1 1 1 1 2016-06-23 FAP