Gene Directory
324 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)
ETV6
ETS variant transcription factor 6
AQP2
aquaporin 2
LRP6
LDL receptor related protein 6
RECQL
RecQ like helicase
LRRK2
leucine rich repeat kinase 2
ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
FGD4
FYVE, RhoGEF and PH domain containing 4
VDR
vitamin D receptor
SOX5
SRY-box transcription factor 5
SCNN1A
sodium channel epithelial 1 subunit alpha
TCTN1
tectonic family member 1
CACNA2D4
calcium voltage-gated channel auxiliary subunit alpha2delta 4
MYL2
myosin light chain 2
UBE3B
ubiquitin protein ligase E3B
RXYLT1
ribitol xylosyltransferase 1
RDH5
retinol dehydrogenase 5
GYS2
glycogen synthase 2
CEP83
centrosomal protein 83
KCNA1
potassium voltage-gated channel subfamily A member 1
YARS2
tyrosyl-tRNA synthetase 2
MARS1
methionyl-tRNA synthetase 1
WNT1
Wnt family member 1
KRT1
keratin 1
ANO6
anoctamin 6
GRIP1
glutamate receptor interacting protein 1
POC1B
POC1 centriolar protein B
HPD
4-hydroxyphenylpyruvate dioxygenase
C1S
complement C1s
EIF2B1
eukaryotic translation initiation factor 2B subunit alpha
TBX3
T-box transcription factor 3
IFT81
intraflagellar transport 81
CIT
citron rho-interacting serine/threonine kinase
IRAK4
interleukin 1 receptor associated kinase 4
STAT2
signal transducer and activator of transcription 2
B4GALNT1
beta-1,4-N-acetyl-galactosaminyltransferase 1
PTPRQ
protein tyrosine phosphatase receptor type Q
SMARCC2
SWI/SNF related BAF chromatin remodeling complex subunit C2
AICDA
activation induced cytidine deaminase
PPP1R12A
protein phosphatase 1 regulatory subunit 12A
CNTN1
contactin 1
KCNA5
potassium voltage-gated channel subfamily A member 5
DHX37
DEAH-box helicase 37
MTRFR
mitochondrial translation release factor in rescue
TMPO
thymopoietin
AMHR2
anti-Mullerian hormone receptor type 2
RPS26
ribosomal protein S26
UNG
uracil DNA glycosylase
ORAI1
ORAI calcium release-activated calcium modulator 1
GUCY2C
guanylate cyclase 2C
IPO8
importin 8
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