Gene Directory
311 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)
PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
DSP
desmoplakin
LAMA2
laminin subunit alpha 2
EYS
EGF-like photoreceptor maintenance factor
SYNE1
spectrin repeat containing nuclear envelope protein 1
ARID1B
AT-rich interaction domain 1B
OPRM1
opioid receptor mu 1
SYNGAP1
synaptic Ras GTPase activating protein 1
COL11A2
collagen type XI alpha 2 chain
COL12A1
collagen type XII alpha 1 chain
MMUT
methylmalonyl-CoA mutase
PEX6
peroxisomal biogenesis factor 6
PRPH2
peripherin 2
AHI1
Abelson helper integration site 1
TNXB
tenascin XB
RARS2
arginyl-tRNA synthetase 2, mitochondrial
DST
dystonin
BCKDHB
branched chain keto acid dehydrogenase E1 subunit beta
ALDH5A1
aldehyde dehydrogenase 5 family member A1
PHIP
PHIP subunit of CUL4-Ring ligase complex
LCA5
lebercilin LCA5
CUL7
cullin 7
TULP1
TUB like protein 1
FBXL4
F-box and leucine rich repeat protein 4
FOXC1
forkhead box C1
MYO6
myosin VI
FIG4
FIG4 phosphoinositide 5-phosphatase
SKIC2
SKI2 subunit of superkiller complex
PEX7
peroxisomal biogenesis factor 7
RUNX2
RUNX family transcription factor 2
DNAH8
dynein axonemal heavy chain 8
SLC17A5
solute carrier family 17 member 5
ARG1
arginase 1
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
HIVEP2
HIVEP zinc finger 2
COL9A1
collagen type IX alpha 1 chain
LAMA4
laminin subunit alpha 4
CYP21A2
cytochrome P450 family 21 subfamily A member 2
MOCS1
molybdenum cofactor synthesis 1
FANCE
FA complementation group E
MAK
male germ cell associated kinase
AARS2
alanyl-tRNA synthetase 2, mitochondrial
TRDN
triadin
EYA4
EYA transcriptional coactivator and phosphatase 4
ZNF292
zinc finger protein 292
COL10A1
collagen type X alpha 1 chain
IMPG1
interphotoreceptor matrix proteoglycan 1
NEU1
neuraminidase 1
DLL1
delta like canonical Notch ligand 1
TNFAIP3
TNF alpha induced protein 3
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