Gene Directory
346 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)
LDLR
low density lipoprotein receptor
RYR1
ryanodine receptor 1
CACNA1A
calcium voltage-gated channel subunit alpha1 A
SMARCA4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
STK11
serine/threonine kinase 11
NPHS1
NPHS1 adhesion molecule, nephrin
POLD1
DNA polymerase delta 1, catalytic subunit
NOTCH3
notch receptor 3
MAN2B1
mannosidase alpha class 2B member 1
GCDH
glutaryl-CoA dehydrogenase
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
KMT2B
lysine methyltransferase 2B
FKRP
fukutin related protein
PRPF31
pre-mRNA processing factor 31
BCKDHA
branched chain keto acid dehydrogenase E1 subunit alpha
WDR62
WD repeat domain 62
PNKP
polynucleotide kinase 3'-phosphatase
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
PNPLA6
patatin like domain 6, lysophospholipase
MCOLN1
mucolipin TRP cation channel 1
PRX
periaxin
CEBPA
CCAAT enhancer binding protein alpha
JAK3
Janus kinase 3
COMP
cartilage oligomeric matrix protein
CRX
cone-rod homeobox
NFIX
nuclear factor I X
MYH14
myosin heavy chain 14
TRPM4
transient receptor potential cation channel subfamily M member 4
STXBP2
syntaxin binding protein 2
TNNI3
troponin I3, cardiac type
C3
complement C3
ELANE
elastase, neutrophil expressed
GAMT
guanidinoacetate N-methyltransferase
NLRP12
NLR family pyrin domain containing 12
INSR
insulin receptor
DNMT1
DNA methyltransferase 1
DNM2
dynamin 2
LONP1
lon peptidase 1, mitochondrial
DOCK6
dedicator of cytokinesis 6
IL12RB1
interleukin 12 receptor subunit beta 1
SLC7A9
solute carrier family 7 member 9
CC2D1A
coiled-coil and C2 domain containing 1A
PEPD
peptidase D
OPA3
outer mitochondrial membrane lipid metabolism regulator OPA3
SCN1B
sodium voltage-gated channel beta subunit 1
ETHE1
ETHE1 persulfide dioxygenase
LTBP4
latent transforming growth factor beta binding protein 4
TYK2
tyrosine kinase 2
RPS19
ribosomal protein S19
ADAMTS10
ADAM metallopeptidase with thrombospondin type 1 motif 10
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