Gene Directory
397 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)
DMD
dystrophin
COL4A5
collagen type IV alpha 5 chain
PHEX
phosphate regulating endopeptidase X-linked
FLNA
filamin A
MECP2
methyl-CpG binding protein 2
RPGR
retinitis pigmentosa GTPase regulator
GLA
galactosidase alpha
F8
coagulation factor VIII
ABCD1
ATP binding cassette subfamily D member 1
CDKL5
cyclin dependent kinase like 5
PCDH19
protocadherin 19
ATP7A
ATPase copper transporting alpha
OTC
ornithine transcarbamylase
IDS
iduronate 2-sulfatase
AR
androgen receptor
DDX3X
DEAD-box helicase 3 X-linked
BTK
Bruton tyrosine kinase
ATRX
ATRX chromatin remodeler
GJB1
gap junction protein beta 1
MTM1
myotubularin 1
IQSEC2
IQ motif and Sec7 domain ArfGEF 2
L1CAM
L1 cell adhesion molecule
G6PD
glucose-6-phosphate dehydrogenase
CHM
CHM Rab escort protein
NEXMIF
neurite extension and migration factor
F9
coagulation factor IX
EDA
ectodysplasin A
SMC1A
structural maintenance of chromosomes 1A
MED12
mediator complex subunit 12
CASK
calcium/calmodulin dependent serine protein kinase
CACNA1F
calcium voltage-gated channel subunit alpha1 F
CYBB
cytochrome b-245 beta chain
WAS
WASP actin nucleation promoting factor
OFD1
OFD1 centriole and centriolar satellite protein
WDR45
WD repeat domain 45
KDM5C
lysine demethylase 5C
ARX
aristaless related homeobox
RS1
retinoschisin 1
LAMP2
lysosome associated membrane protein 2
KDM6A
lysine demethylase 6A
SLC6A8
solute carrier family 6 member 8
PDHA1
pyruvate dehydrogenase E1 subunit alpha 1
OCRL
OCRL inositol polyphosphate-5-phosphatase
RP2
RP2 activator of ARL3 GTPase
PLP1
proteolipid protein 1
IL2RG
interleukin 2 receptor subunit gamma
DCX
doublecortin
RPS6KA3
ribosomal protein S6 kinase A3
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
EMD
emerin
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