Gene Directory

370 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)
PDHB
pyruvate dehydrogenase E1 subunit beta
43 variants Chr 3 Pyruvate dehydrogenase complex...
TERC
telomerase RNA component
42 variants Chr 3 "Long non-coding RNAs with non...
UBA5
ubiquitin like modifier activating enzyme 5
42 variants Chr 3 Ubiquitin like modifier activa...
POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
41 variants Chr 3 O-linked N-acetylglucosaminylt...
ABHD5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
39 variants Chr 3 Abhydrolase domain containing
ILDR1
immunoglobulin like domain containing receptor 1
38 variants Chr 3
ARHGAP31
Rho GTPase activating protein 31
37 variants Chr 3 Rho GTPase activating proteins
ATP2C1
ATPase secretory pathway Ca2+ transporting 1
37 variants Chr 3 ATPases Ca2+ transporting
MECOM
MDS1 and EVI1 complex locus
37 variants Chr 3 "Zinc fingers C2H2-type|PR/SET...
ATP2B2
ATPase plasma membrane Ca2+ transporting 2
36 variants Chr 3 "ATPases Ca2+ transporting|Mic...
CEP63
centrosomal protein 63
36 variants Chr 3
RFT1
RFT1 glycolipid translocator homolog
36 variants Chr 3 Solute carrier family 76
DVL3
dishevelled segment polarity protein 3
34 variants Chr 3 "Dishevelled segment polarity ...
GYG1
glycogenin 1
34 variants Chr 3 Glycosyltransferase family 8
MASP1
MBL associated serine protease 1
34 variants Chr 3 "Serine proteases|Sushi domain...
TNNC1
troponin C1, slow skeletal and cardiac type
34 variants Chr 3 "EF-hand domain containing|Tro...
TSEN2
tRNA splicing endonuclease subunit 2
34 variants Chr 3 tRNA-splicing endonuclease sub...
MYL3
myosin light chain 3
32 variants Chr 3 Myosin light chains, class 1
PLD1
phospholipase D1
32 variants Chr 3 "Phospholipases|Pleckstrin hom...
RNF168
ring finger protein 168
32 variants Chr 3 Ring finger proteins
HESX1
HESX homeobox 1
31 variants Chr 3 PRD class homeoboxes and pseud...
POC1A
POC1 centriolar protein A
30 variants Chr 3 WD repeat domain containing
ZMYND10
zinc finger MYND-type containing 10
30 variants Chr 3 "Zinc fingers MYND-type|Axonem...
MRPS22
mitochondrial ribosomal protein S22
29 variants Chr 3 "Mitochondrial ribosomal prote...
PRKCD
protein kinase C delta
28 variants Chr 3 "C2 domain containing protein ...
SATB1
SATB homeobox 1
28 variants Chr 3 CUT class homeoboxes and pseud...
TMIE
transmembrane inner ear
28 variants Chr 3
GNAT1
G protein subunit alpha transducin 1
27 variants Chr 3 G protein subunits alpha, grou...
MED12L
mediator complex subunit 12L
26 variants Chr 3 Mediator complex
WNT5A
Wnt family member 5A
26 variants Chr 3 Wnt family
PRICKLE2
prickle planar cell polarity protein 2
24 variants Chr 3 "Prickle planar cell polarity ...
RARB
retinoic acid receptor beta
24 variants Chr 3 Retinoic acid receptors
GPD1L
glycerol-3-phosphate dehydrogenase 1 like
23 variants Chr 3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3
23 variants Chr 3 Mitochondrial respiratory chai...
NPRL2
NPR2 like, GATOR1 complex subunit
23 variants Chr 3 GATOR1 subcomplex
POGLUT1
protein O-glucosyltransferase 1
23 variants Chr 3 Glycosyltransferase family 90
THPO
thrombopoietin
23 variants Chr 3 Receptor ligands
DNAJC19
DnaJ heat shock protein family (Hsp40) member C19
22 variants Chr 3 "DNAJ (HSP40) heat shock prote...
ATP6V1A
ATPase H+ transporting V1 subunit A
21 variants Chr 3 "V-type ATPase subunits|ATPase...
CRELD1
CRELD disulfide isomerase 1
21 variants Chr 3
DHX30
DExH-box helicase 30
21 variants Chr 3 "DEAH-box helicases|MicroRNA p...
EHHADH
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
21 variants Chr 3 MicroRNA protein coding host g...
GP9
glycoprotein IX platelet
21 variants Chr 3 CD molecules
ACY1
aminoacylase 1
20 variants Chr 3 M20 metallopeptidases
PCYT1A
phosphate cytidylyltransferase 1A, choline
20 variants Chr 3
PLXNA1
plexin A1
20 variants Chr 3 "Plexins|IPT domain containing...
RNF13
ring finger protein 13
20 variants Chr 3 Ring finger proteins
TF
transferrin
20 variants Chr 3 Transferrins
CELSR3
cadherin EGF LAG seven-pass G-type receptor 3
19 variants Chr 3 "Adhesion G protein-coupled re...
CFAP44
cilia and flagella associated protein 44
19 variants Chr 3 "WD repeat domain containing|C...
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