Gene Directory

6,394 genes with known genetic variants in our database.

All Chr 1(621) Chr 2(446) Chr 3(370) Chr 4(242) Chr 5(266) Chr 6(311) Chr 7(286) Chr 8(216) Chr 9(250) Chr 10(250) Chr 11(386) Chr 12(324) Chr 13(111) Chr 14(198) Chr 15(221) Chr 16(276) Chr 17(359) Chr 18(87) Chr 19(346) Chr 20(177) Chr 21(71) Chr 22(147) Chr X(397) Chr Y(4)
WHRN
whirlin
101 variants Chr 9 "PDZ domain containing|USH2 co...
WWOX
WW domain containing oxidoreductase
101 variants Chr 16 Short chain dehydrogenase/redu...
FAS
Fas cell surface death receptor
100 variants Chr 10 "CD molecules|Tumor necrosis f...
GATAD2B
GATA zinc finger domain containing 2B
100 variants Chr 1 GATA zinc finger domain contai...
IRF6
interferon regulatory factor 6
100 variants Chr 1 Interferon regulatory factors
CRPPA
CDP-L-ribitol pyrophosphorylase A
99 variants Chr 7
DIAPH1
diaphanous related formin 1
99 variants Chr 5 "Armadillo like helical domain...
GPR143
G protein-coupled receptor 143
99 variants Chr X 7TM uncharacterized proteins
ACE
angiotensin I converting enzyme
98 variants Chr 17 CD molecules
AGA
aspartylglucosaminidase
98 variants Chr 4
CCM2
CCM2 scaffold protein
98 variants Chr 7 CCM adhesion complex
DDC
dopa decarboxylase
98 variants Chr 7
GNAO1
G protein subunit alpha o1
98 variants Chr 16 "G protein subunits alpha, gro...
IFT122
intraflagellar transport 122
98 variants Chr 3 "WD repeat domain containing|I...
NHS
NHS actin remodeling regulator
98 variants Chr X "MicroRNA protein coding host ...
TTLL5
tubulin tyrosine ligase like 5
98 variants Chr 14 Tubulin tyrosine ligase family
AVPR2
arginine vasopressin receptor 2
97 variants Chr X Arginine vasopressin and oxyto...
CACNA1G
calcium voltage-gated channel subunit alpha1 G
97 variants Chr 17 Calcium voltage-gated channel ...
CASQ2
calsequestrin 2
97 variants Chr 1 Protein disulfide isomerases
CYP4V2
cytochrome P450 family 4 subfamily V member 2
97 variants Chr 4 Cytochrome P450 family 4
EYA4
EYA transcriptional coactivator and phosphatase 4
97 variants Chr 6 EYA transcriptional coactivato...
PTS
6-pyruvoyltetrahydropterin synthase
97 variants Chr 11
RAF1
Raf-1 proto-oncogene, serine/threonine kinase
97 variants Chr 3 "Mitogen-activated protein kin...
RBP3
retinol binding protein 3
97 variants Chr 10
SIN3A
SIN3 transcription regulator family member A
97 variants Chr 15 "EMSY complex|SIN3 histone dea...
SMC3
structural maintenance of chromosomes 3
97 variants Chr 10 "Proteoglycans|Structural main...
TCF12
transcription factor 12
97 variants Chr 15 Basic helix-loop-helix protein...
ABCG5
ATP binding cassette subfamily G member 5
96 variants Chr 2 ATP binding cassette subfamily...
ALDH18A1
aldehyde dehydrogenase 18 family member A1
96 variants Chr 10 Aldehyde dehydrogenases
ANK3
ankyrin 3
96 variants Chr 10 "Ankyrin repeat domain contain...
BICD2
BICD cargo adaptor 2
96 variants Chr 9
DNM1
dynamin 1
96 variants Chr 9 "Pleckstrin homology domain co...
GPC3
glypican 3
96 variants Chr X Glypicans
OTOA
otoancorin
96 variants Chr 16
PAX2
paired box 2
96 variants Chr 10 "PRD class homeoboxes and pseu...
ADCY5
adenylate cyclase 5
95 variants Chr 3 Adenylate cyclases
ANO10
anoctamin 10
95 variants Chr 3 Anoctamins
CAMTA1
calmodulin binding transcription activator 1
95 variants Chr 1 "IPT domain containing|Calmodu...
CHRNG
cholinergic receptor nicotinic gamma subunit
95 variants Chr 2 Cholinergic receptors nicotini...
COG5
component of oligomeric golgi complex 5
95 variants Chr 7 Components of oligomeric golgi...
COL9A3
collagen type IX alpha 3 chain
95 variants Chr 20 "Collagen proteoglycans|Fibril...
EMC1
ER membrane protein complex subunit 1
95 variants Chr 1 ER membrane protein complex su...
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
95 variants Chr 15 Gamma-aminobutyric acid type A...
SNRNP200
small nuclear ribonucleoprotein U5 subunit 200
95 variants Chr 2 "U5 small nuclear ribonucleopr...
TREX1
three prime repair exonuclease 1
95 variants Chr 3 "Exonucleases|SET complex"
ACTG1
actin gamma 1
94 variants Chr 17 Actins
CLN8
CLN8 transmembrane ER and ERGIC protein
94 variants Chr 8 TLC domain containing
CNGA1
cyclic nucleotide gated channel subunit alpha 1
94 variants Chr 4 Cyclic nucleotide gated channe...
NBEAL2
neurobeachin like 2
94 variants Chr 3 "WD repeat domain containing|B...
TRIM32
tripartite motif containing 32
94 variants Chr 9 "Ring finger proteins|Triparti...
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