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)
PLCE1
phospholipase C epsilon 1
107 variants Chr 10 "Phospholipases|C2 domain cont...
SLC16A2
solute carrier family 16 member 2
107 variants Chr X Solute carrier family 16
TMEM43
transmembrane protein 43
107 variants Chr 3
FANCE
FA complementation group E
106 variants Chr 6 "FA complementation groups|FA ...
FGFR3
fibroblast growth factor receptor 3
106 variants Chr 4 "Receptor tyrosine kinases|CD ...
HADHB
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
106 variants Chr 2
MAK
male germ cell associated kinase
106 variants Chr 6 CILK1, MAK, MOK protein kinase...
NAGS
N-acetylglutamate synthase
106 variants Chr 17 GCN5 related N-acetyltransfera...
PIGG
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
106 variants Chr 4 "Blood group antigens|Phosphat...
SCN3A
sodium voltage-gated channel alpha subunit 3
106 variants Chr 2 Sodium voltage-gated channel a...
VCAN
versican
106 variants Chr 5 "Hyalectan proteoglycans|V-set...
XPA
XPA, DNA damage recognition and repair factor
106 variants Chr 9 Xeroderma pigmentosum compleme...
AARS2
alanyl-tRNA synthetase 2, mitochondrial
105 variants Chr 6 Aminoacyl tRNA synthetases, Cl...
CPAP
centrosome assembly and centriole elongation protein
105 variants Chr 13
DCHS1
dachsous cadherin-related 1
105 variants Chr 11 Cadherin related
DNM2
dynamin 2
105 variants Chr 19 "Pleckstrin homology domain co...
EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3
105 variants Chr 2 Eukaryotic translation initiat...
GUSB
glucuronidase beta
105 variants Chr 7 Glycoside hydrolase family
HPS6
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
105 variants Chr 10 Biogenesis of lysosomal organe...
LONP1
lon peptidase 1, mitochondrial
105 variants Chr 19 "AAA ATPases|Serine proteases|...
PHGDH
phosphoglycerate dehydrogenase
105 variants Chr 1
SKI
SKI proto-oncogene
105 variants Chr 1 SKI transcriptional corepresso...
UMOD
uromodulin
105 variants Chr 16
WDR35
WD repeat domain 35
105 variants Chr 2 "WD repeat domain containing|I...
CARD11
caspase recruitment domain family member 11
104 variants Chr 7 "Membrane associated guanylate...
CDK13
cyclin dependent kinase 13
104 variants Chr 7 Cyclin dependent kinases
CFI
complement factor I
104 variants Chr 4 "Scavenger receptor cysteine r...
IGF1R
insulin like growth factor 1 receptor
104 variants Chr 15 "CD molecules|Fibronectin type...
MCM3AP
minichromosome maintenance complex component 3 associated protein
104 variants Chr 21 "Lysine acetyltransferases|Tra...
PIGO
phosphatidylinositol glycan anchor biosynthesis class O
104 variants Chr 9 Phosphatidylinositol glycan an...
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
104 variants Chr 3 Phosphatidylinositol 3-kinase ...
SLC3A1
solute carrier family 3 member 1
104 variants Chr 2 Solute carrier family 3
STAR
steroidogenic acute regulatory protein
104 variants Chr 8 StAR related lipid transfer do...
NR2F1
nuclear receptor subfamily 2 group F member 1
103 variants Chr 5 Nuclear receptor subfamily 2 g...
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
102 variants Chr 15 BUB1 mitotic checkpoint serine...
CLTC
clathrin heavy chain
102 variants Chr 17 Clathrin subunits
KDM6B
lysine demethylase 6B
102 variants Chr 17 Lysine demethylases
PCLO
piccolo presynaptic cytomatrix protein
102 variants Chr 7 "C2 domain containing|PDZ doma...
SOD1
superoxide dismutase 1
102 variants Chr 21 Superoxide dismutases
TBL1XR1
TBL1X/Y related 1
102 variants Chr 3 "WD repeat domain containing|N...
TYRP1
tyrosinase related protein 1
102 variants Chr 9 Tyrosinase family
CHD3
chromodomain helicase DNA binding protein 3
101 variants Chr 17 "PHD finger proteins|SNF2 rela...
FHL1
four and a half LIM domains 1
101 variants Chr X LIM domain containing
IQCB1
IQ motif containing B1
101 variants Chr 3 Armadillo like helical domain ...
PDZD7
PDZ domain containing 7
101 variants Chr 10 "PDZ domain containing|USH2 co...
RTTN
rotatin
101 variants Chr 18 Armadillo like helical domain ...
SLC19A3
solute carrier family 19 member 3
101 variants Chr 2 Solute carrier family 19
STAT1
signal transducer and activator of transcription 1
101 variants Chr 2 SH2 domain containing
TRDN
triadin
101 variants Chr 6
TRRAP
transformation/transcription domain associated protein
101 variants Chr 7 "SAGA complex|Armadillo like h...
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