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)
RHO
rhodopsin
TUBGCP6
tubulin gamma complex component 6
ACSF3
acyl-CoA synthetase family member 3
ADAMTSL4
ADAMTS like 4
ATP13A2
ATPase cation transporting 13A2
COL4A2
collagen type IV alpha 2 chain
KDM5C
lysine demethylase 5C
PRF1
perforin 1
SHANK3
SH3 and multiple ankyrin repeat domains 3
ARX
aristaless related homeobox
ITGB3
integrin subunit beta 3
IVD
isovaleryl-CoA dehydrogenase
LRBA
LPS responsive beige-like anchor protein
POLR3A
RNA polymerase III subunit A
RAG1
recombination activating 1
RS1
retinoschisin 1
LAMP2
lysosome associated membrane protein 2
MTTP
microsomal triglyceride transfer protein
KIF11
kinesin family member 11
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1
PDE6A
phosphodiesterase 6A
SON
SON DNA and RNA binding protein
DCLRE1C
DNA cross-link repair 1C
DNMT3A
DNA methyltransferase 3 alpha
MMACHC
metabolism of cobalamin associated C
PCSK9
proprotein convertase subtilisin/kexin type 9
PPT1
palmitoyl-protein thioesterase 1
TRMU
tRNA mitochondrial 2-thiouridylase
TRPM1
transient receptor potential cation channel subfamily M member 1
ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13
KDM6A
lysine demethylase 6A
LAMB2
laminin subunit beta 2
PHIP
PHIP subunit of CUL4-Ring ligase complex
SLC6A8
solute carrier family 6 member 8
EYA1
EYA transcriptional coactivator and phosphatase 1
NR2E3
nuclear receptor subfamily 2 group E member 3
ACAN
aggrecan
F5
coagulation factor V
MCOLN1
mucolipin TRP cation channel 1
RUNX1
RUNX family transcription factor 1
CCDC40
coiled-coil domain 40 molecular ruler complex subunit
CDKN1B
cyclin dependent kinase inhibitor 1B
COMT
catechol-O-methyltransferase
DBT
dihydrolipoamide branched chain transacylase E2
ALS2
alsin Rho guanine nucleotide exchange factor ALS2
LIPA
lipase A, lysosomal acid type
PDHA1
pyruvate dehydrogenase E1 subunit alpha 1
SOX10
SRY-box transcription factor 10
TCF20
transcription factor 20
TRPS1
transcriptional repressor GATA binding 1
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