Gene Directory

250 genes with known genetic variants in our database.

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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)
OPTN
optineurin
69 variants Chr 10 Zinc fingers C2HC NEMO-type
DHTKD1
dehydrogenase E1 and transketolase domain containing 1
62 variants Chr 10 "Oxoglutarate dehydrogenase fa...
ACTA2
actin alpha 2, smooth muscle
61 variants Chr 10 Actins
SLC29A3
solute carrier family 29 member 3
59 variants Chr 10 Solute carrier family 29
ZMIZ1
zinc finger MIZ-type containing 1
57 variants Chr 10 Zinc fingers MIZ-type
COX15
cytochrome c oxidase assembly factor COX15
56 variants Chr 10 Mitochondrial respiratory chai...
ODAD2
outer dynein arm docking complex subunit 2
56 variants Chr 10 "Armadillo repeat containing|O...
CHST3
carbohydrate sulfotransferase 3
55 variants Chr 10 Sulfotransferases, membrane bo...
MAT1A
methionine adenosyltransferase 1A
55 variants Chr 10 Methionine adenosyltransferase...
HTRA1
HtrA serine peptidase 1
54 variants Chr 10 "Serine proteases|PDZ domain c...
TCTN3
tectonic family member 3
54 variants Chr 10 Tectonic proteins
ACADSB
acyl-CoA dehydrogenase short/branched chain
46 variants Chr 10 "Acyl-CoA dehydrogenase family...
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2
45 variants Chr 10 "Membrane associated guanylate...
NEBL
nebulette
45 variants Chr 10 "LIM domain containing|Nebulin...
COL13A1
collagen type XIII alpha 1 chain
44 variants Chr 10 Membrane associated collagens ...
HK1
hexokinase 1
41 variants Chr 10 Hexokinase family
CNNM2
cyclin and CBS domain divalent metal cation transport mediator 2
39 variants Chr 10 Solute carrier family 70, cycl...
TUBB8
tubulin beta 8 class VIII
38 variants Chr 10 Tubulin beta family
MICU1
mitochondrial calcium uptake 1
37 variants Chr 10 "EF-hand domain containing|MCU...
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2
34 variants Chr 10
PDSS1
decaprenyl diphosphate synthase subunit 1
33 variants Chr 10
ANKRD1
ankyrin repeat domain 1
32 variants Chr 10 Ankyrin repeat domain containi...
TRIM8
tripartite motif containing 8
32 variants Chr 10 "Ring finger proteins|Triparti...
DNA2
DNA replication helicase/nuclease 2
31 variants Chr 10 UPF1 like RNA helicases
SHOC2
SHOC2 leucine rich repeat scaffold protein
31 variants Chr 10 MicroRNA protein coding host g...
UROS
uroporphyrinogen III synthase
31 variants Chr 10
CYP2C19
cytochrome P450 family 2 subfamily C member 19
30 variants Chr 10 Cytochrome P450 family 2
EGR2
early growth response 2
30 variants Chr 10 Zinc fingers C2H2-type
GDF2
growth differentiation factor 2
29 variants Chr 10 Transforming growth factor bet...
GLUD1
glutamate dehydrogenase 1
29 variants Chr 10
JMJD1C
jumonji domain containing 1C
29 variants Chr 10 "Lysine demethylases|MicroRNA ...
CWF19L1
CWF19 like cell cycle control factor 1
28 variants Chr 10 Small nucleolar RNA protein co...
IL2RA
interleukin 2 receptor subunit alpha
28 variants Chr 10 "CD molecules|Interleukin rece...
NFKB2
nuclear factor kappa B subunit 2
28 variants Chr 10 "Ankyrin repeat domain contain...
NT5C2
5'-nucleotidase, cytosolic II
28 variants Chr 10 5'-nucleotidases
ACBD5
acyl-CoA binding domain containing 5
27 variants Chr 10
CTNNA3
catenin alpha 3
27 variants Chr 10 "Alpha catenins|MicroRNA prote...
ZEB1
zinc finger E-box binding homeobox 1
27 variants Chr 10 "Zinc fingers C2H2-type|ZF cla...
SGPL1
sphingosine-1-phosphate lyase 1
25 variants Chr 10
FGF8
fibroblast growth factor 8
24 variants Chr 10 "Receptor ligands|Fibroblast g...
KIFBP
kinesin family binding protein
24 variants Chr 10 Tetratricopeptide repeat domai...
CFAP43
cilia and flagella associated protein 43
23 variants Chr 10 "WD repeat domain containing|C...
ASCC1
activating signal cointegrator 1 complex subunit 1
22 variants Chr 10 Activating signal cointegrator...
DNAJC12
DnaJ heat shock protein family (Hsp40) member C12
21 variants Chr 10 DNAJ (HSP40) heat shock protei...
MMP21
matrix metallopeptidase 21
21 variants Chr 10 M10 matrix metallopeptidases
NODAL
nodal growth differentiation factor
21 variants Chr 10 Transforming growth factor bet...
ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1
20 variants Chr 10 "CD molecules|Ectonucleoside t...
NKX6-2
NK6 homeobox 2
20 variants Chr 10 NKL subclass homeoboxes and ps...
PRKG1
protein kinase cGMP-dependent 1
20 variants Chr 10 "MicroRNA protein coding host ...
RBP4
retinol binding protein 4
19 variants Chr 10 Lipocalins
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