Gene Directory
250 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)
PTEN
phosphatase and tensin homolog
CDH23
cadherin related 23
PCDH15
protocadherin related 15
RET
ret proto-oncogene
ERCC6
ERCC excision repair 6, chromatin remodeling factor
BMPR1A
bone morphogenetic protein receptor type 1A
RBM20
RNA binding motif protein 20
KAT6B
lysine acetyltransferase 6B
CUBN
cubilin
ABCC2
ATP binding cassette subfamily C member 2
BAG3
BAG cochaperone 3
HPS1
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
SUFU
SUFU negative regulator of hedgehog signaling
COL17A1
collagen type XVII alpha 1 chain
PRF1
perforin 1
POLR3A
RNA polymerase III subunit A
KIF11
kinesin family member 11
DCLRE1C
DNA cross-link repair 1C
LIPA
lipase A, lysosomal acid type
LDB3
LIM domain binding 3
CYP17A1
cytochrome P450 family 17 subfamily A member 1
OAT
ornithine aminotransferase
FGFR2
fibroblast growth factor receptor 2
CDHR1
cadherin related family member 1
HOGA1
4-hydroxy-2-oxoglutarate aldolase 1
MYPN
myopalladin
CHAT
choline O-acetyltransferase
PDE6C
phosphodiesterase 6C
MYO3A
myosin IIIA
TWNK
twinkle mtDNA helicase
ANKRD26
ankyrin repeat domain 26
PSAP
prosaposin
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
PLCE1
phospholipase C epsilon 1
HPS6
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
PDZD7
PDZ domain containing 7
FAS
Fas cell surface death receptor
RBP3
retinol binding protein 3
SMC3
structural maintenance of chromosomes 3
ALDH18A1
aldehyde dehydrogenase 18 family member A1
ANK3
ankyrin 3
PAX2
paired box 2
WAC
WW domain containing adaptor with coiled-coil
EBF3
EBF transcription factor 3
LGI1
leucine rich glioma inactivated 1
PHYH
phytanoyl-CoA 2-hydroxylase
GATA3
GATA binding protein 3
VCL
vinculin
ECHS1
enoyl-CoA hydratase, short chain 1
ZMYND11
zinc finger MYND-type containing 11
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