Gene Directory
250 genes with known genetic variants in our database.
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)
XPA
XPA, DNA damage recognition and repair factor
PIGO
phosphatidylinositol glycan anchor biosynthesis class O
TYRP1
tyrosinase related protein 1
WHRN
whirlin
BICD2
BICD cargo adaptor 2
DNM1
dynamin 1
TRIM32
tripartite motif containing 32
VLDLR
very low density lipoprotein receptor
MAN1B1
mannosidase alpha class 1B member 1
CRB2
crumbs cell polarity complex component 2
HNRNPK
heterogeneous nuclear ribonucleoprotein K
RORB
RAR related orphan receptor B
TRPM6
transient receptor potential cation channel subfamily M member 6
CACNA1B
calcium voltage-gated channel subunit alpha1 B
GBA2
glucosylceramidase beta 2
VCP
valosin containing protein
FBP1
fructose-bisphosphatase 1
CEP78
centrosomal protein 78
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3
GSN
gelsolin
GALNT12
polypeptide N-acetylgalactosaminyltransferase 12
ZNF462
zinc finger protein 462
ERCC6L2
ERCC excision repair 6 like 2
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
APTX
aprataxin
TEK
TEK receptor tyrosine kinase
TPM2
tropomyosin 2
C5
complement C5
GLIS3
GLIS family zinc finger 3
KANK1
KN motif and ankyrin repeat domains 1
TOPORS
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
LHX3
LIM homeobox 3
EXOSC3
exosome component 3
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2
IFT74
intraflagellar transport 74
CARD9
caspase recruitment domain family member 9
RUSC2
RUN and SH3 domain containing 2
SLC27A4
solute carrier family 27 member 4
TPRN
taperin
GABBR2
gamma-aminobutyric acid type B receptor subunit 2
ANKS6
ankyrin repeat and sterile alpha motif domain containing 6
COQ4
coenzyme Q4
DOLK
dolichol kinase
DYNC2I2
dynein 2 intermediate chain 2
PSAT1
phosphoserine aminotransferase 1
ADAMTSL2
ADAMTS like 2
AUH
AU RNA binding methylglutaconyl-CoA hydratase
FRRS1L
ferric chelate reductase 1 like
DBH
dopamine beta-hydroxylase
IARS1
isoleucyl-tRNA synthetase 1
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