Gene Directory

266 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)
APC
APC regulator of Wnt signaling pathway
2768 variants Chr 5 "Armadillo repeat containing|P...
DNAH5
dynein axonemal heavy chain 5
1418 variants Chr 5 Dyneins, axonemal outer arm co...
ADGRV1
adhesion G protein-coupled receptor V1
1261 variants Chr 5 "Adhesion G protein-coupled re...
NSD1
nuclear receptor binding SET domain protein 1
709 variants Chr 5 "PHD finger proteins|Histone l...
MSH3
mutS homolog 3
653 variants Chr 5 MutS homologs
NIPBL
NIPBL cohesin loading factor
621 variants Chr 5 Armadillo like helical domain ...
RAD50
RAD50 double strand break repair protein
592 variants Chr 5 "BRCA1 C complex|MRN complex"
FBN2
fibrillin 2
493 variants Chr 5 Fibrillin family
TERT
telomerase reverse transcriptase
389 variants Chr 5 Telomerase holoenzyme subunits
SDHA
succinate dehydrogenase complex flavoprotein subunit A
384 variants Chr 5 "Mitochondrial complex II: suc...
CPLANE1
ciliogenesis and planar polarity effector complex subunit 1
357 variants Chr 5 Ciliogenesis and planar polari...
SH3TC2
SH3 domain and tetratricopeptide repeats 2
322 variants Chr 5 "Tetratricopeptide repeat doma...
CTNNA1
catenin alpha 1
306 variants Chr 5 Alpha catenins
SLC22A5
solute carrier family 22 member 5
301 variants Chr 5 Solute carrier family 22
HSD17B4
hydroxysteroid 17-beta dehydrogenase 4
264 variants Chr 5 "Short chain dehydrogenase/red...
RASA1
RAS p21 protein activator 1
247 variants Chr 5 "Pleckstrin homology domain co...
SLC26A2
solute carrier family 26 member 2
245 variants Chr 5 Solute carrier family 26
ARSB
arylsulfatase B
243 variants Chr 5 Sulfatases
TCOF1
treacle ribosome biogenesis factor 1
219 variants Chr 5 Ribosomal biogenesis factors
ALDH7A1
aldehyde dehydrogenase 7 family member A1
215 variants Chr 5 Aldehyde dehydrogenases
HEXB
hexosaminidase subunit beta
190 variants Chr 5 Hexosaminidases
PURA
purine rich element binding protein A
187 variants Chr 5
MCCC2
methylcrotonyl-CoA carboxylase subunit 2
185 variants Chr 5 Methylcrotonyl-CoA carboxylase...
ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2
182 variants Chr 5 ADAM metallopeptidases with th...
SKIC3
SKI3 subunit of superkiller complex
176 variants Chr 5 "Tetratricopeptide repeat doma...
PDE6A
phosphodiesterase 6A
168 variants Chr 5 Phosphodiesterases
LIFR
LIF receptor subunit alpha
157 variants Chr 5 "CD molecules|Fibronectin type...
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
152 variants Chr 5 Gamma-aminobutyric acid type A...
TRIO
trio Rho guanine nucleotide exchange factor
148 variants Chr 5 "I-set domain containing|Dbl f...
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
139 variants Chr 5 Flavoproteins
CSF1R
colony stimulating factor 1 receptor
128 variants Chr 5 "Receptor tyrosine kinases|CD ...
NKX2-5
NK2 homeobox 5
128 variants Chr 5 NKL subclass homeoboxes and ps...
DDX41
DEAD-box helicase 41
127 variants Chr 5 "DEAD-box helicases|Spliceosom...
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
127 variants Chr 5 Gamma-aminobutyric acid type A...
SPINK5
serine peptidase inhibitor Kazal type 5
125 variants Chr 5 Serine peptidase inhibitors, K...
SLC45A2
solute carrier family 45 member 2
121 variants Chr 5 Solute carrier family 45
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
114 variants Chr 5 "WD repeat domain containing|E...
MEGF10
multiple EGF like domains 10
112 variants Chr 5 Scavenger receptors
MEF2C
myocyte enhancer factor 2C
111 variants Chr 5 "Myocyte enhancer factor 2 pro...
VCAN
versican
106 variants Chr 5 "Hyalectan proteoglycans|V-set...
NR2F1
nuclear receptor subfamily 2 group F member 1
103 variants Chr 5 Nuclear receptor subfamily 2 g...
DIAPH1
diaphanous related formin 1
99 variants Chr 5 "Armadillo like helical domain...
AP3B1
adaptor related protein complex 3 subunit beta 1
91 variants Chr 5 "Clathrin/coatomer adaptor, ad...
GLRA1
glycine receptor alpha 1
88 variants Chr 5 Glycine receptors
GHR
growth hormone receptor
79 variants Chr 5 Fibronectin type III domain co...
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
79 variants Chr 5 Cyclic nucleotide gated channe...
SQSTM1
sequestosome 1
79 variants Chr 5 Zinc fingers ZZ-type
SGCD
sarcoglycan delta
76 variants Chr 5
GRM6
glutamate metabotropic receptor 6
75 variants Chr 5 Glutamate metabotropic recepto...
LOX
lysyl oxidase
74 variants Chr 5
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