Gene Directory
621 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)
USH2A
usherin
ABCA4
ATP binding cassette subfamily A member 4
MUTYH
mutY DNA glycosylase
RYR2
ryanodine receptor 2
LMNA
lamin A/C
AGL
amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
CRB1
crumbs cell polarity complex component 1
FH
fumarate hydratase
ASPM
assembly factor for spindle microtubules
COL11A1
collagen type XI alpha 1 chain
CACNA1S
calcium voltage-gated channel subunit alpha1 S
ALPL
alkaline phosphatase, biomineralization associated
SPTA1
spectrin alpha, erythrocytic 1
SLC2A1
solute carrier family 2 member 1
LYST
lysosomal trafficking regulator
ACADM
acyl-CoA dehydrogenase medium chain
LAMB3
laminin subunit beta 3
HSPG2
heparan sulfate proteoglycan 2
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
SDHB
succinate dehydrogenase complex iron sulfur subunit B
NPHP4
nephrocystin 4
RPE65
retinoid isomerohydrolase RPE65
CPT2
carnitine palmitoyltransferase 2
LAMC2
laminin subunit gamma 2
NTRK1
neurotrophic receptor tyrosine kinase 1
MFN2
mitofusin 2
ARID1A
AT-rich interaction domain 1A
SZT2
SZT2 subunit of KICSTOR complex
AHDC1
AT-hook DNA binding motif containing 1
ACTN2
actinin alpha 2
FLG
filaggrin
NOTCH2
notch receptor 2
POGZ
pogo transposable element derived with ZNF domain
MPZ
myelin protein zero
MTHFR
methylenetetrahydrofolate reductase
ACTA1
actin alpha 1, skeletal muscle
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
GBA1
glucosylceramidase beta 1
MPL
MPL proto-oncogene, thrombopoietin receptor
CDC73
cell division cycle 73
DPYD
dihydropyrimidine dehydrogenase
HNRNPU
heterogeneous nuclear ribonucleoprotein U
ADAMTSL4
ADAMTS like 4
ATP13A2
ATPase cation transporting 13A2
MMACHC
metabolism of cobalamin associated C
PCSK9
proprotein convertase subtilisin/kexin type 9
PPT1
palmitoyl-protein thioesterase 1
F5
coagulation factor V
DBT
dihydrolipoamide branched chain transacylase E2
P3H1
prolyl 3-hydroxylase 1
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