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)
TBX1
T-box transcription factor 1
79 variants Chr 22 T-box transcription factors
ANOS1
anosmin 1
78 variants Chr X "WAP four-disulfide core domai...
ASH1L
ASH1 like histone lysine methyltransferase
78 variants Chr 1 "PHD finger proteins|Histone l...
ATP6V0A2
ATPase H+ transporting V0 subunit a2
78 variants Chr 12 V-type ATPase subunits
BCL11B
BCL11 transcription factor B
78 variants Chr 14 "Zinc fingers C2H2-type|BAF co...
CARD14
caspase recruitment domain family member 14
78 variants Chr 17 "Membrane associated guanylate...
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
78 variants Chr 2 "Xeroderma pigmentosum complem...
FRMD7
FERM domain containing 7
78 variants Chr X FERM domain containing
GATA1
GATA binding protein 1
78 variants Chr X GATA zinc finger domain contai...
PKD1L1
polycystin 1 like 1, transient receptor potential channel interacting
78 variants Chr 7
SLC20A2
solute carrier family 20 member 2
78 variants Chr 8 Solute carrier family 20
SPATA7
spermatogenesis associated 7
78 variants Chr 14
ALOXE3
arachidonate epidermal lipoxygenase 3
77 variants Chr 17 Arachidonate lipoxygenases
ATP6V0A4
ATPase H+ transporting V0 subunit a4
77 variants Chr 7 V-type ATPase subunits
BCL11A
BCL11 transcription factor A
77 variants Chr 2 "Zinc fingers C2H2-type|BAF co...
ERCC5
ERCC excision repair 5, endonuclease
77 variants Chr 13 "Xeroderma pigmentosum complem...
IRF2BPL
interferon regulatory factor 2 binding protein like
77 variants Chr 14
PRDM5
PR/SET domain 5
77 variants Chr 4 "Zinc fingers C2H2-type|PR/SET...
SOX11
SRY-box transcription factor 11
77 variants Chr 2 SRY-box transcription factors
SPEG
striated muscle enriched protein kinase
77 variants Chr 2 "I-set domain containing|Myosi...
TRNT1
tRNA nucleotidyl transferase 1
77 variants Chr 3
CHD4
chromodomain helicase DNA binding protein 4
76 variants Chr 12 "PHD finger proteins|SNF2 rela...
CR2
complement C3d receptor 2
76 variants Chr 1 "CD molecules|Sushi domain con...
CRTAP
cartilage associated protein
76 variants Chr 3 Prolyl 3-hydroxylase family
CTCF
CCCTC-binding factor
76 variants Chr 16 "Zinc fingers C2H2-type|Cilia ...
FOXN1
forkhead box N1
76 variants Chr 17 Forkhead boxes
IMPDH1
inosine monophosphate dehydrogenase 1
76 variants Chr 7 Inosine monophosphate dehydrog...
MLYCD
malonyl-CoA decarboxylase
76 variants Chr 16
NSD2
nuclear receptor binding SET domain protein 2
76 variants Chr 4 "PHD finger proteins|Histone l...
OPHN1
oligophrenin 1
76 variants Chr X AH/BAR family Rho GTPase activ...
SALL4
spalt like transcription factor 4
76 variants Chr 20 Zinc fingers C2H2-type
SETD1B
SET domain containing 1B, histone lysine methyltransferase
76 variants Chr 12 "Histone lysine methyltransfer...
SGCD
sarcoglycan delta
76 variants Chr 5
TCN2
transcobalamin 2
76 variants Chr 22
AP4B1
adaptor related protein complex 4 subunit beta 1
75 variants Chr 1 "Clathrin/coatomer adaptor, ad...
DLL1
delta like canonical Notch ligand 1
75 variants Chr 6 Canonical Notch ligands
FOXP3
forkhead box P3
75 variants Chr X Forkhead boxes
GRM6
glutamate metabotropic receptor 6
75 variants Chr 5 Glutamate metabotropic recepto...
MID1
midline 1
75 variants Chr X "Ring finger proteins|Triparti...
PITX2
paired like homeodomain 2
75 variants Chr 4 PRD class homeoboxes and pseud...
SERPINF1
serpin family F member 1
75 variants Chr 17 Serpin peptidase inhibitors
TBCE
tubulin folding cofactor E
75 variants Chr 1
TBK1
TANK binding kinase 1
75 variants Chr 12 I kappa B kinase family
THRB
thyroid hormone receptor beta
75 variants Chr 3 Thyroid hormone receptors
DNAAF2
dynein axonemal assembly factor 2
74 variants Chr 14 Axonemal dynein assembly facto...
GAN
gigaxonin
74 variants Chr 16 "Kelch like|BTB domain contain...
LOX
lysyl oxidase
74 variants Chr 5
MED17
mediator complex subunit 17
74 variants Chr 11 Mediator complex
NDUFS1
NADH:ubiquinone oxidoreductase core subunit S1
74 variants Chr 2 NADH:ubiquinone oxidoreductase...
SMN1
survival of motor neuron 1, telomeric
74 variants Chr 5 "Tudor domain containing|SMN c...
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