Gene Directory

386 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)
BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
93 variants Chr 11
NDUFV1
NADH:ubiquinone oxidoreductase core subunit V1
93 variants Chr 11 "NADH:ubiquinone oxidoreductas...
LRP4
LDL receptor related protein 4
91 variants Chr 11 Low density lipoprotein recept...
CTSC
cathepsin C
90 variants Chr 11 Cathepsins
FOXRED1
FAD dependent oxidoreductase domain containing 1
88 variants Chr 11 "Mitochondrial respiratory cha...
TRPC6
transient receptor potential cation channel subfamily C member 6
83 variants Chr 11 "Transient receptor potential ...
CTSD
cathepsin D
80 variants Chr 11 "Cathepsins|Peptidase family A...
FZD4
frizzled class receptor 4
80 variants Chr 11 "G protein-coupled receptors, ...
LTBP3
latent transforming growth factor beta binding protein 3
80 variants Chr 11 Latent transforming growth fac...
MED17
mediator complex subunit 17
74 variants Chr 11 Mediator complex
SLC6A5
solute carrier family 6 member 5
73 variants Chr 11 Solute carrier family 6
SDHAF2
succinate dehydrogenase complex assembly factor 2
72 variants Chr 11 Mitochondrial respiratory chai...
PEX16
peroxisomal biogenesis factor 16
69 variants Chr 11 Peroxins
FANCF
FA complementation group F
68 variants Chr 11 "FA complementation groups|FA ...
CLPB
ClpB family mitochondrial disaggregase
65 variants Chr 11 "Ankyrin repeat domain contain...
PNPLA2
patatin like domain 2, triacylglycerol lipase
65 variants Chr 11 "Lipases|Patatin like phosphol...
F2
coagulation factor II, thrombin
64 variants Chr 11 "Receptor ligands|Gla domain c...
KCNJ1
potassium inwardly rectifying channel subfamily J member 1
64 variants Chr 11 Potassium inwardly rectifying ...
MTMR2
myotubularin related protein 2
62 variants Chr 11 "Myotubularins|Phosphoinositid...
DPAGT1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
61 variants Chr 11
TMEM216
transmembrane protein 216
61 variants Chr 11
CSRP3
cysteine and glycine rich protein 3
59 variants Chr 11 LIM domain containing
GANAB
glucosidase II alpha subunit
59 variants Chr 11 Glycoside hydrolase family 31
ALG8
ALG8 alpha-1,3-glucosyltransferase
57 variants Chr 11 Alpha-1,3-glucosyltransferases
INS
insulin
57 variants Chr 11 "Neuropeptides|Insulin family"
KMT5B
lysine methyltransferase 5B
57 variants Chr 11 "Histone lysine methyltransfer...
EFEMP2
EGF-like fibulin extracellular matrix protein 2
56 variants Chr 11 Fibulins
PACS1
phosphofurin acidic cluster sorting protein 1
56 variants Chr 11
SLC25A22
solute carrier family 25 member 22
56 variants Chr 11 Solute carrier family 25
CABP4
calcium binding protein 4
55 variants Chr 11 EF-hand domain containing
MFRP
membrane frizzled-related protein
55 variants Chr 11
HRAS
HRas proto-oncogene, GTPase
54 variants Chr 11 RAS type GTPase family
ROBO3
roundabout guidance receptor 3
54 variants Chr 11 "Fibronectin type III domain c...
DNHD1
dynein heavy chain domain 1
52 variants Chr 11
MYRF
myelin regulatory factor
52 variants Chr 11
ACAD8
acyl-CoA dehydrogenase family member 8
51 variants Chr 11 "Acyl-CoA dehydrogenase family...
PDHX
pyruvate dehydrogenase complex component X
48 variants Chr 11 "Pyruvate dehydrogenase comple...
IL10RA
interleukin 10 receptor subunit alpha
47 variants Chr 11 "CD molecules|Interleukin rece...
MMP13
matrix metallopeptidase 13
46 variants Chr 11 "Receptor ligands|M10 matrix m...
SHANK2
SH3 and multiple ankyrin repeat domains 2
46 variants Chr 11 "Ankyrin repeat domain contain...
APOA1
apolipoprotein A1
44 variants Chr 11 Apolipoproteins
CAPN1
calpain 1
44 variants Chr 11 "EF-hand domain containing|Cal...
NARS2
asparaginyl-tRNA synthetase 2, mitochondrial
44 variants Chr 11 Aminoacyl tRNA synthetases, Cl...
STIM1
stromal interaction molecule 1
44 variants Chr 11 "Sterile alpha motif domain co...
FOLR1
folate receptor alpha
41 variants Chr 11
HEPACAM
hepatic and glial cell adhesion molecule
41 variants Chr 11 "V-set domain containing|Ig-li...
PHF21A
PHD finger protein 21A
41 variants Chr 11 PHD finger proteins
CTSF
cathepsin F
38 variants Chr 11 "Cathepsins|Elastases"
INPPL1
inositol polyphosphate phosphatase like 1
38 variants Chr 11 "SH2 domain containing|Sterile...
ARCN1
archain 1 coat protein complex I subunit delta
37 variants Chr 11 Coat protein complex I
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