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)
KMT2D
lysine methyltransferase 2D
POLE
DNA polymerase epsilon, catalytic subunit
COL2A1
collagen type II alpha 1 chain
CEP290
centrosomal protein 290
PAH
phenylalanine hydroxylase
PKP2
plakophilin 2
ACVRL1
activin A receptor like type 1
VWF
von Willebrand factor
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
SCN8A
sodium voltage-gated channel alpha subunit 8
HNF1A
HNF1 homeobox A
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
CACNA1C
calcium voltage-gated channel subunit alpha1 C
MED13L
mediator complex subunit 13L
BBS10
Bardet-Biedl syndrome 10
PTPN11
protein tyrosine phosphatase non-receptor type 11
ABCC9
ATP binding cassette subfamily C member 9
TUBA1A
tubulin alpha 1a
TBX5
T-box transcription factor 5
CDKN1B
cyclin dependent kinase inhibitor 1B
KIF5A
kinesin family member 5A
WNK1
WNK lysine deficient protein kinase 1
TRPV4
transient receptor potential cation channel subfamily V member 4
MVK
mevalonate kinase
OTOGL
otogelin like
PFKM
phosphofructokinase, muscle
ACADS
acyl-CoA dehydrogenase short chain
PEX5
peroxisomal biogenesis factor 5
MMAB
metabolism of cobalamin associated B
AAAS
aladin WD repeat nucleoporin
POLR3B
RNA polymerase III subunit B
KRT5
keratin 5
SUOX
sulfite oxidase
CYP27B1
cytochrome P450 family 27 subfamily B member 1
ARID2
AT-rich interaction domain 2
A2ML1
alpha-2-macroglobulin like 1
TSFM
Ts translation elongation factor, mitochondrial
GNS
glucosamine (N-acetyl)-6-sulfatase
ITGA7
integrin subunit alpha 7
TCTN2
tectonic family member 2
KRAS
KRAS proto-oncogene, GTPase
PUS1
pseudouridine synthase 1
ATP6V0A2
ATPase H+ transporting V0 subunit a2
CHD4
chromodomain helicase DNA binding protein 4
SETD1B
SET domain containing 1B, histone lysine methyltransferase
TBK1
TANK binding kinase 1
LEMD3
LEM domain containing 3
TNFRSF1A
TNF receptor superfamily member 1A
CDK4
cyclin dependent kinase 4
DNM1L
dynamin 1 like
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