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)
AP3B2
adaptor related protein complex 3 subunit beta 2
60 variants Chr 15 "Clathrin/coatomer adaptor, ad...
BBS5
Bardet-Biedl syndrome 5
60 variants Chr 2 BBSome
CHKB
choline kinase beta
60 variants Chr 22 Choline kinase family
DYM
dymeclin
60 variants Chr 18 "Armadillo like helical domain...
ECEL1
endothelin converting enzyme like 1
60 variants Chr 2 M13 metallopeptidases
GGCX
gamma-glutamyl carboxylase
60 variants Chr 2
KCNH1
potassium voltage-gated channel subfamily H member 1
60 variants Chr 1 "Potassium voltage-gated chann...
MAX
MYC associated transcriptional regulator X
60 variants Chr 14 Basic helix-loop-helix protein...
PACS2
phosphofurin acidic cluster sorting protein 2
60 variants Chr 14
PEX13
peroxisomal biogenesis factor 13
60 variants Chr 2 Peroxins
PGAP1
post-GPI attachment to proteins inositol deacylase 1
60 variants Chr 2
POLR1C
RNA polymerase I and III subunit C
60 variants Chr 6 RNA polymerase subunits
SCNN1A
sodium channel epithelial 1 subunit alpha
60 variants Chr 12 Sodium channels epithelial
SLC2A2
solute carrier family 2 member 2
60 variants Chr 3 Solute carrier family 2
TAB2
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
60 variants Chr 6 Zinc fingers RANBP2-type
TAF1
TATA-box binding protein associated factor 1
60 variants Chr X "Lysine acetyltransferases|Bro...
TCTN1
tectonic family member 1
60 variants Chr 12 "Tectonic proteins|MKS complex...
TMEM231
transmembrane protein 231
60 variants Chr 16 MKS complex
ACTC1
actin alpha cardiac muscle 1
59 variants Chr 15 Actins
CARMIL2
capping protein regulator and myosin 1 linker 2
59 variants Chr 16
CSRP3
cysteine and glycine rich protein 3
59 variants Chr 11 LIM domain containing
EEF1A2
eukaryotic translation elongation factor 1 alpha 2
59 variants Chr 20 Translational GTPases
FOXF1
forkhead box F1
59 variants Chr 16 Forkhead boxes
GALNT12
polypeptide N-acetylgalactosaminyltransferase 12
59 variants Chr 9 Polypeptide N-acetylgalactosam...
GANAB
glucosidase II alpha subunit
59 variants Chr 11 Glycoside hydrolase family 31
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2
59 variants Chr 1
KLHL7
kelch like family member 7
59 variants Chr 7 "Kelch like|BTB domain contain...
MESP2
mesoderm posterior bHLH transcription factor 2
59 variants Chr 15 Basic helix-loop-helix protein...
NPC2
NPC intracellular cholesterol transporter 2
59 variants Chr 14 "MicroRNA protein coding host ...
SAG
S-antigen visual arrestin
59 variants Chr 2 Classical arrestins
SH3PXD2B
SH3 and PX domains 2B
59 variants Chr 5
SIK1
salt inducible kinase 1
59 variants Chr 21 SIK family kinases
SLC29A3
solute carrier family 29 member 3
59 variants Chr 10 Solute carrier family 29
TMPRSS15
transmembrane serine protease 15
59 variants Chr 21 "Scavenger receptor cysteine r...
TUBB2B
tubulin beta 2B class IIb
59 variants Chr 6 Tubulin beta family
ZNF462
zinc finger protein 462
59 variants Chr 9 Zinc fingers C2H2-type
CACNA2D4
calcium voltage-gated channel auxiliary subunit alpha2delta 4
58 variants Chr 12 Calcium voltage-gated channel ...
CNNM4
cyclin and CBS domain divalent metal cation transport mediator 4
58 variants Chr 2 "MicroRNA protein coding host ...
CYBA
cytochrome b-245 alpha chain
58 variants Chr 16
EFNB1
ephrin B1
58 variants Chr X Ephrins
HSPB1
heat shock protein family B (small) member 1
58 variants Chr 7 Small heat shock proteins
KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
58 variants Chr 21 Potassium voltage-gated channe...
MAP2K1
mitogen-activated protein kinase kinase 1
58 variants Chr 15 Mitogen-activated protein kina...
MYL2
myosin light chain 2
58 variants Chr 12 Myosin light chains, class 2
PHKA1
phosphorylase kinase regulatory subunit alpha 1
58 variants Chr X Phosphorylase kinase subunits
SLC52A2
solute carrier family 52 member 2
58 variants Chr 8 "Solute carrier family 52|Flav...
SLC5A5
solute carrier family 5 member 5
58 variants Chr 19 Solute carrier family 5
UBE3B
ubiquitin protein ligase E3B
58 variants Chr 12 HECT domain containing
VSX2
visual system homeobox 2
58 variants Chr 14 PRD class homeoboxes and pseud...
ALG8
ALG8 alpha-1,3-glucosyltransferase
57 variants Chr 11 Alpha-1,3-glucosyltransferases
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