Gene Directory

111 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)
BRCA2
BRCA2 DNA repair associated
8590 variants Chr 13 FA complementation groups
SACS
sacsin molecular chaperone
1256 variants Chr 13 "DNAJ (HSP40) heat shock prote...
RB1
RB transcriptional corepressor 1
903 variants Chr 13 Receptor ligands
ATP7B
ATPase copper transporting beta
892 variants Chr 13 ATPase copper transporting
COL4A1
collagen type IV alpha 1 chain
400 variants Chr 13 Network forming collagens
PCCA
propionyl-CoA carboxylase subunit alpha
289 variants Chr 13 Propionyl-CoA carboxylase subu...
GJB2
gap junction protein beta 2
226 variants Chr 13 Gap junction proteins
FREM2
FRAS1 related extracellular matrix 2
206 variants Chr 13
COL4A2
collagen type IV alpha 2 chain
171 variants Chr 13 "MicroRNA protein coding host ...
NALCN
sodium leak channel, non-selective
159 variants Chr 13 "Sodium leak channels, non sel...
CLN5
CLN5 lysosomal BMP synthase
157 variants Chr 13
LIG4
DNA ligase 4
120 variants Chr 13 DNA ligases
SGCG
sarcoglycan gamma
112 variants Chr 13
CPAP
centrosome assembly and centriole elongation protein
105 variants Chr 13
F7
coagulation factor VII
89 variants Chr 13 Gla domain containing
SLC25A15
solute carrier family 25 member 15
86 variants Chr 13 "MicroRNA protein coding host ...
ERCC5
ERCC excision repair 5, endonuclease
77 variants Chr 13 "Xeroderma pigmentosum complem...
NBEA
neurobeachin
66 variants Chr 13 "WD repeat domain containing|A...
ZMYM2
zinc finger MYM-type containing 2
63 variants Chr 13 Zinc fingers MYM-type
RNASEH2B
ribonuclease H2 subunit B
57 variants Chr 13
ATP8A2
ATPase phospholipid transporting 8A2
56 variants Chr 13 ATPase phospholipid transporti...
CHAMP1
chromosome alignment maintaining phosphoprotein 1
53 variants Chr 13 Zinc fingers C2H2-type
EDNRB
endothelin receptor type B
53 variants Chr 13 Endothelin receptors
SUCLA2
succinate-CoA ligase ADP-forming subunit beta
51 variants Chr 13
ZIC2
Zic family zinc finger 2
50 variants Chr 13 "Zinc fingers C2H2-type|ZIC fa...
F10
coagulation factor X
44 variants Chr 13 Gla domain containing
GJA3
gap junction protein alpha 3
43 variants Chr 13 Gap junction proteins
COG6
component of oligomeric golgi complex 6
41 variants Chr 13 Components of oligomeric golgi...
SPART
spartin
36 variants Chr 13
B3GLCT
beta 3-glucosyltransferase
34 variants Chr 13 Beta 3-glycosyltransferases
PDX1
pancreatic and duodenal homeobox 1
34 variants Chr 13 HOXL subclass homeoboxes
RCBTB1
RCC1 and BTB domain containing protein 1
30 variants Chr 13 BTB domain containing
CARS2
cysteinyl-tRNA synthetase 2, mitochondrial
27 variants Chr 13 Aminoacyl tRNA synthetases, Cl...
SLC10A2
solute carrier family 10 member 2
26 variants Chr 13 Solute carrier family 10
MIPEP
mitochondrial intermediate peptidase
24 variants Chr 13 M3 metallopeptidase family
ALG11
ALG11 alpha-1,2-mannosyltransferase
23 variants Chr 13 Glycosyl transferases group 1 ...
GJB6
gap junction protein beta 6
22 variants Chr 13 Gap junction proteins
PIBF1
progesterone immunomodulatory binding factor 1
22 variants Chr 13
DIAPH3
diaphanous related formin 3
21 variants Chr 13 "Armadillo like helical domain...
KL
klotho
20 variants Chr 13 Glycoside hydrolase family 1
RFXAP
regulatory factor X associated protein
20 variants Chr 13
TPP2
tripeptidyl peptidase 2
20 variants Chr 13
GRK1
G protein-coupled receptor kinase 1
19 variants Chr 13 G protein-coupled receptor kin...
NAXD
NAD(P)HX dehydratase
18 variants Chr 13
SMAD9
SMAD family member 9
18 variants Chr 13 SMAD family
POLR1D
RNA polymerase I and III subunit D
17 variants Chr 13 RNA polymerase subunits
FGF14
fibroblast growth factor 14
16 variants Chr 13 "MicroRNA protein coding host ...
LPAR6
lysophosphatidic acid receptor 6
14 variants Chr 13 Lysophosphatidic acid receptor...
TNFSF11
TNF superfamily member 11
14 variants Chr 13 "CD molecules|Tumor necrosis f...
GPC6
glypican 6
13 variants Chr 13 Glypicans
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