Gene Directory

216 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)
CHD7
chromodomain helicase DNA binding protein 7
1096 variants Chr 8 "Myb/SANT domain containing|He...
VPS13B
vacuolar protein sorting 13 homolog B
976 variants Chr 8 Bridge-like lipid transfer pro...
PLEC
plectin
778 variants Chr 8 "Plakins|MicroRNA protein codi...
NBN
nibrin
676 variants Chr 8 "BRCA1 C complex|MRN complex"
RECQL4
RecQ like helicase 4
507 variants Chr 8 RecQ like helicases
WRN
WRN RecQ like helicase
455 variants Chr 8 "Exonucleases|RecQ like helica...
EXT1
exostosin glycosyltransferase 1
401 variants Chr 8 Exostosin glycosyltransferase ...
ANK1
ankyrin 1
374 variants Chr 8 "Ankyrin repeat domain contain...
RP1
RP1 axonemal microtubule associated
337 variants Chr 8 Doublecortin superfamily
TG
thyroglobulin
307 variants Chr 8
FGFR1
fibroblast growth factor receptor 1
274 variants Chr 8 "Receptor tyrosine kinases|CD ...
CNGB3
cyclic nucleotide gated channel subunit beta 3
261 variants Chr 8 Cyclic nucleotide gated channe...
KAT6A
lysine acetyltransferase 6A
250 variants Chr 8 "PHD finger proteins|MYST type...
TMEM67
transmembrane protein 67
237 variants Chr 8 MKS complex
CYP11B1
cytochrome P450 family 11 subfamily B member 1
190 variants Chr 8 Cytochrome P450 family 11
HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase
177 variants Chr 8
EYA1
EYA transcriptional coactivator and phosphatase 1
165 variants Chr 8 EYA transcriptional coactivato...
TRPS1
transcriptional repressor GATA binding 1
161 variants Chr 8 "Zinc fingers C2H2-type|GATA z...
RP1L1
RP1 like 1
150 variants Chr 8 Doublecortin superfamily
LPL
lipoprotein lipase
147 variants Chr 8 Lipases
MCPH1
microcephalin 1
141 variants Chr 8
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2
137 variants Chr 8 Lysine acetyltransferases
CYP11B2
cytochrome P450 family 11 subfamily B member 2
131 variants Chr 8 Cytochrome P450 family 11
SLC39A4
solute carrier family 39 member 4
127 variants Chr 8 Solute carrier family 39
ASAH1
N-acylsphingosine amidohydrolase 1
123 variants Chr 8
GDAP1
ganglioside induced differentiation associated protein 1
123 variants Chr 8
KCNQ3
potassium voltage-gated channel subfamily Q member 3
118 variants Chr 8 Potassium voltage-gated channe...
CSPP1
centrosome and spindle pole associated protein 1
116 variants Chr 8
TRAPPC9
trafficking protein particle complex subunit 9
114 variants Chr 8 Trafficking protein particle c...
CYP7B1
cytochrome P450 family 7 subfamily B member 1
113 variants Chr 8 Cytochrome P450 family 7
STAR
steroidogenic acute regulatory protein
104 variants Chr 8 StAR related lipid transfer do...
CLN8
CLN8 transmembrane ER and ERGIC protein
94 variants Chr 8 TLC domain containing
PEX2
peroxisomal biogenesis factor 2
92 variants Chr 8 "Ring finger proteins|Peroxins...
TONSL
tonsoku like, DNA repair protein
90 variants Chr 8 "Ankyrin repeat domain contain...
PUF60
poly(U) binding splicing factor 60
84 variants Chr 8 "RNA binding motif containing|...
TTPA
alpha tocopherol transfer protein
84 variants Chr 8 CRAL-TRIO lipid binding domain...
CHRNA2
cholinergic receptor nicotinic alpha 2 subunit
81 variants Chr 8 Cholinergic receptors nicotini...
SLC20A2
solute carrier family 20 member 2
78 variants Chr 8 Solute carrier family 20
WASHC5
WASH complex subunit 5
69 variants Chr 8 WASH complex
NEFL
neurofilament light chain
67 variants Chr 8 "Intermediate filaments Type I...
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B
66 variants Chr 8 Ribonucleotide reductase subun...
DGAT1
diacylglycerol O-acyltransferase 1
65 variants Chr 8 "Membrane bound O-acyltransfer...
RHOBTB2
Rho related BTB domain containing 2
64 variants Chr 8 "Rho family GTPases|BTB domain...
BMP1
bone morphogenetic protein 1
63 variants Chr 8 "Bone morphogenetic proteins|A...
SPAG1
sperm associated antigen 1
62 variants Chr 8 "Tetratricopeptide repeat doma...
NDRG1
N-myc downstream regulated 1
61 variants Chr 8 NDRG family
RAD21
RAD21 cohesin complex component
61 variants Chr 8 "Cohesin complex|Kleisins|Micr...
SLC52A2
solute carrier family 52 member 2
58 variants Chr 8 "Solute carrier family 52|Flav...
PRKDC
protein kinase, DNA-activated, catalytic subunit
51 variants Chr 8 "Armadillo like helical domain...
GATA4
GATA binding protein 4
50 variants Chr 8 GATA zinc finger domain contai...
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