Gene Directory

397 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)
BCOR
BCL6 corepressor
130 variants Chr X Ankyrin repeat domain containi...
PHKA2
phosphorylase kinase regulatory subunit alpha 2
123 variants Chr X Phosphorylase kinase subunits
NR0B1
nuclear receptor subfamily 0 group B member 1
120 variants Chr X Nuclear receptor subfamily 0 g...
CLCN5
Cl-/H+ antiporter 5
116 variants Chr X "CLC chloride channel and tran...
USP9X
ubiquitin specific peptidase 9 X-linked
111 variants Chr X "Ubiquitin specific peptidases...
TAFAZZIN
tafazzin, phospholipid-lysophospholipid transacylase
109 variants Chr X
SLC16A2
solute carrier family 16 member 2
107 variants Chr X Solute carrier family 16
FHL1
four and a half LIM domains 1
101 variants Chr X LIM domain containing
GPR143
G protein-coupled receptor 143
99 variants Chr X 7TM uncharacterized proteins
NHS
NHS actin remodeling regulator
98 variants Chr X "MicroRNA protein coding host ...
AVPR2
arginine vasopressin receptor 2
97 variants Chr X Arginine vasopressin and oxyto...
GPC3
glypican 3
96 variants Chr X Glypicans
CD40LG
CD40 ligand
93 variants Chr X "CD molecules|Tumor necrosis f...
HPRT1
hypoxanthine phosphoribosyltransferase 1
92 variants Chr X
FGD1
FYVE, RhoGEF and PH domain containing 1
88 variants Chr X "Zinc fingers FYVE-type|Plecks...
SYN1
synapsin I
86 variants Chr X Synapsins
HDAC8
histone deacetylase 8
84 variants Chr X Histone deacetylases, class I
EBP
EBP cholestenol delta-isomerase
81 variants Chr X AEBS complex subunits
ANOS1
anosmin 1
78 variants Chr X "WAP four-disulfide core domai...
FRMD7
FERM domain containing 7
78 variants Chr X FERM domain containing
GATA1
GATA binding protein 1
78 variants Chr X GATA zinc finger domain contai...
OPHN1
oligophrenin 1
76 variants Chr X AH/BAR family Rho GTPase activ...
FOXP3
forkhead box P3
75 variants Chr X Forkhead boxes
MID1
midline 1
75 variants Chr X "Ring finger proteins|Triparti...
AIFM1
apoptosis inducing factor mitochondria associated 1
73 variants Chr X Flavoproteins
FANCB
FA complementation group B
72 variants Chr X "FA complementation groups|FA ...
ARHGEF9
Cdc42 guanine nucleotide exchange factor 9
71 variants Chr X "Pleckstrin homology domain co...
CLCN4
Cl-/H+ antiporter 4
71 variants Chr X CLC chloride channel and trans...
PIGA
phosphatidylinositol glycan anchor biosynthesis class A
71 variants Chr X "Glycosyl transferases group 1...
IKBKG
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
69 variants Chr X "IKK complex|Zinc fingers C2HC...
SLC35A2
solute carrier family 35 member A2
69 variants Chr X Solute carrier family 35
ALAS2
5'-aminolevulinate synthase 2
67 variants Chr X
HCFC1
host cell factor C1
67 variants Chr X "Protein phosphatase 1 regulat...
NDP
norrin cystine knot growth factor NDP
66 variants Chr X Receptor ligands
SLC9A6
solute carrier family 9 member A6
65 variants Chr X Solute carrier family 9
GRIA3
glutamate ionotropic receptor AMPA type subunit 3
64 variants Chr X Glutamate ionotropic receptor ...
SHOX
SHOX homeobox
64 variants Chr X "PRD class homeoboxes and pseu...
XIAP
X-linked inhibitor of apoptosis
63 variants Chr X "Ring finger proteins|Baculovi...
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit
62 variants Chr X "UDP-N-acetylglucosaminyltrans...
BRWD3
bromodomain and WD repeat domain containing 3
62 variants Chr X Bromodomain and WD repeat doma...
TAF1
TATA-box binding protein associated factor 1
60 variants Chr X "Lysine acetyltransferases|Bro...
EFNB1
ephrin B1
58 variants Chr X Ephrins
PHKA1
phosphorylase kinase regulatory subunit alpha 1
58 variants Chr X Phosphorylase kinase subunits
AMER1
APC membrane recruitment protein 1
57 variants Chr X APC membrane recruitment prote...
ARSL
arylsulfatase L
57 variants Chr X Sulfatases
CUL4B
cullin 4B
55 variants Chr X Cullins
PORCN
porcupine O-acyltransferase
54 variants Chr X Membrane bound O-acyltransfera...
POU3F4
POU class 3 homeobox 4
54 variants Chr X POU class homeoboxes and pseud...
DKC1
dyskerin pseudouridine synthase 1
53 variants Chr X "H/ACA ribonucleoprotein compl...
PHF6
PHD finger protein 6
52 variants Chr X PHD finger proteins
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