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)
WDPCP
WD repeat containing planar cell polarity effector
89 variants Chr 2 Ciliogenesis and planar polari...
ACOX1
acyl-CoA oxidase 1
88 variants Chr 17 Flavoproteins
BPTF
bromodomain PHD finger transcription factor
88 variants Chr 17 "PHD finger proteins|Bromodoma...
CC2D1A
coiled-coil and C2 domain containing 1A
88 variants Chr 19 C2 domain containing
FGD1
FYVE, RhoGEF and PH domain containing 1
88 variants Chr X "Zinc fingers FYVE-type|Plecks...
FOXRED1
FAD dependent oxidoreductase domain containing 1
88 variants Chr 11 "Mitochondrial respiratory cha...
GLRA1
glycine receptor alpha 1
88 variants Chr 5 Glycine receptors
HBA2
hemoglobin subunit alpha 2
88 variants Chr 16 "Hemoglobin subunits|Proteins ...
SAMD9L
sterile alpha motif domain containing 9 like
88 variants Chr 7 Sterile alpha motif domain con...
COL10A1
collagen type X alpha 1 chain
87 variants Chr 6 "C1q domain containing|Network...
DLG4
discs large MAGUK scaffold protein 4
87 variants Chr 17 "Membrane associated guanylate...
GARS1
glycyl-tRNA synthetase 1
87 variants Chr 7 Aminoacyl tRNA synthetases, Cl...
LPIN2
lipin 2
87 variants Chr 18 Lipins
PEPD
peptidase D
87 variants Chr 19 M24 metallopeptidase family
TTC8
tetratricopeptide repeat domain 8
87 variants Chr 14 "Tetratricopeptide repeat doma...
UGT1A1
UDP glucuronosyltransferase family 1 member A1
87 variants Chr 2 UDP glucuronosyltransferases
VLDLR
very low density lipoprotein receptor
87 variants Chr 9 Low density lipoprotein recept...
ARID2
AT-rich interaction domain 2
86 variants Chr 12 "AT-rich interaction domain co...
CLRN1
clarin 1
86 variants Chr 3 Clarins
FMO3
flavin containing dimethylaniline monoxygenase 3
86 variants Chr 1 "Flavin containing monooxygena...
SLC25A15
solute carrier family 25 member 15
86 variants Chr 13 "MicroRNA protein coding host ...
SOX2
SRY-box transcription factor 2
86 variants Chr 3 SRY-box transcription factors
SYN1
synapsin I
86 variants Chr X Synapsins
TWIST1
twist family bHLH transcription factor 1
86 variants Chr 7 Basic helix-loop-helix protein...
UBR1
ubiquitin protein ligase E3 component n-recognin 1
86 variants Chr 15 Ubiquitin protein ligase E3 co...
ADA2
adenosine deaminase 2
85 variants Chr 22 Adenosine deaminase family
CDAN1
codanin 1
85 variants Chr 15
CDH3
cadherin 3
85 variants Chr 16 Type I classical cadherins
DNMT3B
DNA methyltransferase 3 beta
85 variants Chr 20 "PWWP domain containing|7BS C5...
LDLRAP1
low density lipoprotein receptor adaptor protein 1
85 variants Chr 1
LGI1
leucine rich glioma inactivated 1
85 variants Chr 10 LGI family
MAN1B1
mannosidase alpha class 1B member 1
85 variants Chr 9 Mannosidases alpha class 1
PYGL
glycogen phosphorylase L
85 variants Chr 14 Glycogen phosphorylases
VPS13D
vacuolar protein sorting 13 homolog D
85 variants Chr 1 "Small nucleolar RNA protein c...
A2ML1
alpha-2-macroglobulin like 1
84 variants Chr 12 Alpha-2-macroglobulin family
CHRND
cholinergic receptor nicotinic delta subunit
84 variants Chr 2 Cholinergic receptors nicotini...
CTSA
cathepsin A
84 variants Chr 20 Cathepsins
EDAR
ectodysplasin A receptor
84 variants Chr 2 Tumor necrosis factor receptor...
HDAC8
histone deacetylase 8
84 variants Chr X Histone deacetylases, class I
PUF60
poly(U) binding splicing factor 60
84 variants Chr 8 "RNA binding motif containing|...
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
84 variants Chr 4
SHH
sonic hedgehog signaling molecule
84 variants Chr 7 Hedgehog signaling molecule fa...
TSFM
Ts translation elongation factor, mitochondrial
84 variants Chr 12
TTPA
alpha tocopherol transfer protein
84 variants Chr 8 CRAL-TRIO lipid binding domain...
VRK1
VRK serine/threonine kinase 1
84 variants Chr 14
AFG3L2
AFG3 like matrix AAA peptidase subunit 2
83 variants Chr 18 AAA ATPases
BRPF1
bromodomain and PHD finger containing 1
83 variants Chr 3 "PHD finger proteins|PWWP doma...
ETFA
electron transfer flavoprotein subunit alpha
83 variants Chr 15 Flavoproteins
FA2H
fatty acid 2-hydroxylase
83 variants Chr 16 Fatty acid hydroxylase domain ...
GFAP
glial fibrillary acidic protein
83 variants Chr 17 Intermediate filaments Type II...
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