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)
TAT
tyrosine aminotransferase
70 variants Chr 16 Transaminases
CACNA1D
calcium voltage-gated channel subunit alpha1 D
69 variants Chr 3 Calcium voltage-gated channel ...
CHRNA1
cholinergic receptor nicotinic alpha 1 subunit
69 variants Chr 2 Cholinergic receptors nicotini...
CYP4F22
cytochrome P450 family 4 subfamily F member 22
69 variants Chr 19 Cytochrome P450 family 4
IKBKG
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
69 variants Chr X "IKK complex|Zinc fingers C2HC...
LARP7
La ribonucleoprotein 7, transcriptional regulator
69 variants Chr 4 "La ribonucleoproteins|RNA bin...
LCT
lactase
69 variants Chr 2 Glycoside hydrolase family 1
OPTN
optineurin
69 variants Chr 10 Zinc fingers C2HC NEMO-type
PEX16
peroxisomal biogenesis factor 16
69 variants Chr 11 Peroxins
PRKN
parkin RBR E3 ubiquitin protein ligase
69 variants Chr 6 "Ring finger proteins|RBR E3 u...
PTPN23
protein tyrosine phosphatase non-receptor type 23
69 variants Chr 3 Protein tyrosine phosphatases ...
SCO2
synthesis of cytochrome C oxidase 2
69 variants Chr 22 Mitochondrial respiratory chai...
SETD1A
SET domain containing 1A, histone lysine methyltransferase
69 variants Chr 16 "Histone lysine methyltransfer...
SLC35A2
solute carrier family 35 member A2
69 variants Chr X Solute carrier family 35
WASHC5
WASH complex subunit 5
69 variants Chr 8 WASH complex
ARFGEF2
ARF guanine nucleotide exchange factor 2
68 variants Chr 20 "A-kinase anchoring proteins|A...
CACNA1B
calcium voltage-gated channel subunit alpha1 B
68 variants Chr 9 "EF-hand domain containing|Cal...
CSF3R
colony stimulating factor 3 receptor
68 variants Chr 1 "CD molecules|Fibronectin type...
CYP19A1
cytochrome P450 family 19 subfamily A member 1
68 variants Chr 15 "Cytochrome P450 family 19|Mic...
DMXL2
Dmx like 2
68 variants Chr 15 WD repeat domain containing
ETV6
ETS variant transcription factor 6
68 variants Chr 12 ETS transcription factor famil...
FANCF
FA complementation group F
68 variants Chr 11 "FA complementation groups|FA ...
GALNT3
polypeptide N-acetylgalactosaminyltransferase 3
68 variants Chr 2 Polypeptide N-acetylgalactosam...
GBA2
glucosylceramidase beta 2
68 variants Chr 9 "Glycoside hydrolase family|Gl...
KCNJ10
potassium inwardly rectifying channel subfamily J member 10
68 variants Chr 1 Potassium inwardly rectifying ...
LARS2
leucyl-tRNA synthetase 2, mitochondrial
68 variants Chr 3 Aminoacyl tRNA synthetases, Cl...
MYCN
MYCN proto-oncogene, bHLH transcription factor
68 variants Chr 2 Basic helix-loop-helix protein...
PINK1
PTEN induced kinase 1
68 variants Chr 1 MicroRNA protein coding host g...
VCP
valosin containing protein
68 variants Chr 9 "AAA ATPases|VCP-Ufd1-Npl4 com...
ALAS2
5'-aminolevulinate synthase 2
67 variants Chr X
AMN
amnion associated transmembrane protein
67 variants Chr 14
AQP2
aquaporin 2
67 variants Chr 12 Aquaporins
CCN6
cellular communication network factor 6
67 variants Chr 6 Cellular communication network...
FARS2
phenylalanyl-tRNA synthetase 2, mitochondrial
67 variants Chr 6 Aminoacyl tRNA synthetases, Cl...
GJA1
gap junction protein alpha 1
67 variants Chr 6 Gap junction proteins
HCFC1
host cell factor C1
67 variants Chr X "Protein phosphatase 1 regulat...
LARGE1
LARGE xylosyl- and glucuronyltransferase 1
67 variants Chr 22 "Glycosyltransferase family 8|...
LHCGR
luteinizing hormone/choriogonadotropin receptor
67 variants Chr 2 Glycoprotein hormone receptors
LRP6
LDL receptor related protein 6
67 variants Chr 12 Low density lipoprotein recept...
MTO1
mitochondrial tRNA translation optimization 1
67 variants Chr 6 Flavoproteins
NEFL
neurofilament light chain
67 variants Chr 8 "Intermediate filaments Type I...
PGM3
phosphoglucomutase 3
67 variants Chr 6
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
67 variants Chr 5 SH2 domain containing
PPM1D
protein phosphatase, Mg2+/Mn2+ dependent 1D
67 variants Chr 17 Protein phosphatases, Mg2+/Mn2...
RECQL
RecQ like helicase
67 variants Chr 12 RecQ like helicases
SCNN1B
sodium channel epithelial 1 subunit beta
67 variants Chr 16 Sodium channels epithelial
SLC34A1
solute carrier family 34 member 1
67 variants Chr 5 Solute carrier family 34
TBX4
T-box transcription factor 4
67 variants Chr 17 T-box transcription factors
USH1G
USH1 protein network component sans
67 variants Chr 17 "Ankyrin repeat domain contain...
CANT1
calcium activated nucleotidase 1
66 variants Chr 17
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