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)
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
ITGB4
integrin subunit beta 4
COL18A1
collagen type XVIII alpha 1 chain
PC
pyruvate carboxylase
RPE65
retinoid isomerohydrolase RPE65
BBS2
Bardet-Biedl syndrome 2
CUBN
cubilin
POMT1
protein O-mannosyltransferase 1
MTM1
myotubularin 1
BBS10
Bardet-Biedl syndrome 10
KMT2B
lysine methyltransferase 2B
IGHMBP2
immunoglobulin mu DNA binding protein 2
NTHL1
nth like DNA glycosylase 1
HPS3
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
IQSEC2
IQ motif and Sec7 domain ArfGEF 2
SERPING1
serpin family G member 1
KAT6A
lysine acetyltransferase 6A
L1CAM
L1 cell adhesion molecule
PDGFRA
platelet derived growth factor receptor alpha
CPT2
carnitine palmitoyltransferase 2
UBE3A
ubiquitin protein ligase E3A
G6PD
glucose-6-phosphate dehydrogenase
CHM
CHM Rab escort protein
HGD
homogentisate 1,2-dioxygenase
RASA1
RAS p21 protein activator 1
ABCC2
ATP binding cassette subfamily C member 2
CYP27A1
cytochrome P450 family 27 subfamily A member 1
SLC26A2
solute carrier family 26 member 2
TCF4
transcription factor 4
WT1
WT1 transcription factor
ARSB
arylsulfatase B
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
NEXMIF
neurite extension and migration factor
ITGA2B
integrin subunit alpha 2b
CNGA3
cyclic nucleotide gated channel subunit alpha 3
ANO5
anoctamin 5
TMEM67
transmembrane protein 67
GUCY2D
guanylate cyclase 2D, retinal
MBD5
methyl-CpG binding domain protein 5
COL5A2
collagen type V alpha 2 chain
FOXG1
forkhead box G1
LAMC2
laminin subunit gamma 2
TPP1
tripeptidyl peptidase 1
RARS2
arginyl-tRNA synthetase 2, mitochondrial
TGFBR2
transforming growth factor beta receptor 2
ASL
argininosuccinate lyase
FKRP
fukutin related protein
HADHA
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
F9
coagulation factor IX
NTRK1
neurotrophic receptor tyrosine kinase 1
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