Gene Directory
370 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)
MLH1
mutL homolog 1
COL7A1
collagen type VII alpha 1 chain
SCN5A
sodium voltage-gated channel alpha subunit 5
BAP1
BRCA1 associated deubiquitinase 1
VHL
von Hippel-Lindau tumor suppressor
CASR
calcium sensing receptor
FLNB
filamin B
OPA1
OPA1 mitochondrial dynamin like GTPase
FANCD2
FA complementation group D2
GLB1
galactosidase beta 1
SETD5
SET domain containing 5
GATA2
GATA binding protein 2
PCCB
propionyl-CoA carboxylase subunit beta
BTD
biotinidase
HPS3
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
HGD
homogentisate 1,2-dioxygenase
TGFBR2
transforming growth factor beta receptor 2
XPC
XPC complex subunit, DNA damage recognition and repair factor
MYLK
myosin light chain kinase
NPHP3
nephrocystin 3
GFM1
G elongation factor mitochondrial 1
MCCC1
methylcrotonyl-CoA carboxylase subunit 1
CTNNB1
catenin beta 1
GBE1
1,4-alpha-glucan branching enzyme 1
ACAD9
acyl-CoA dehydrogenase family member 9
SLC6A1
solute carrier family 6 member 1
CCDC39
coiled-coil domain 39 molecular ruler complex subunit
SI
sucrase-isomaltase
FOXP1
forkhead box P1
SCN10A
sodium voltage-gated channel alpha subunit 10
ATR
ATR checkpoint kinase
RHO
rhodopsin
LAMB2
laminin subunit beta 2
IMPG2
interphotoreceptor matrix proteoglycan 2
AMT
aminomethyltransferase
ITPR1
inositol 1,4,5-trisphosphate receptor type 1
TP63
tumor protein p63
PROS1
protein S
FOXL2
forkhead box L2
DNAH1
dynein axonemal heavy chain 1
SUMF1
sulfatase modifying factor 1
NGLY1
N-glycanase 1
SETD2
SET domain containing 2, histone lysine methyltransferase
MITF
melanocyte inducing transcription factor
EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon
COLQ
collagen like tail subunit of asymmetric acetylcholinesterase
CP
ceruloplasmin
TMEM43
transmembrane protein 43
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
TBL1XR1
TBL1X/Y related 1
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