Gene Directory

324 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)
KMT2D
lysine methyltransferase 2D
1503 variants Chr 12 "PHD finger proteins|Histone l...
POLE
DNA polymerase epsilon, catalytic subunit
1210 variants Chr 12 DNA polymerases
COL2A1
collagen type II alpha 1 chain
1033 variants Chr 12 Fibrillar collagens
CEP290
centrosomal protein 290
892 variants Chr 12 MKS complex
PAH
phenylalanine hydroxylase
675 variants Chr 12 Aromatic amino acid hydroxylas...
PKP2
plakophilin 2
462 variants Chr 12 "Armadillo repeat containing|P...
ACVRL1
activin A receptor like type 1
452 variants Chr 12 Type 1 receptor serine/threoni...
VWF
von Willebrand factor
429 variants Chr 12 Receptor ligands
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
415 variants Chr 12 EF-hand domain containing
SCN8A
sodium voltage-gated channel alpha subunit 8
394 variants Chr 12 Sodium voltage-gated channel a...
HNF1A
HNF1 homeobox A
356 variants Chr 12 HNF class homeoboxes
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
325 variants Chr 12 Glutamate ionotropic receptor ...
CACNA1C
calcium voltage-gated channel subunit alpha1 C
320 variants Chr 12 Calcium voltage-gated channel ...
MED13L
mediator complex subunit 13L
304 variants Chr 12 "Mediator complex|MicroRNA pro...
BBS10
Bardet-Biedl syndrome 10
254 variants Chr 12 Chaperonins
PTPN11
protein tyrosine phosphatase non-receptor type 11
189 variants Chr 12 "SH2 domain containing|Protein...
ABCC9
ATP binding cassette subfamily C member 9
186 variants Chr 12 ATP binding cassette subfamily...
TUBA1A
tubulin alpha 1a
186 variants Chr 12 Tubulin alpha family
TBX5
T-box transcription factor 5
183 variants Chr 12 T-box transcription factors
CDKN1B
cyclin dependent kinase inhibitor 1B
162 variants Chr 12
KIF5A
kinesin family member 5A
157 variants Chr 12 Kinesins
WNK1
WNK lysine deficient protein kinase 1
151 variants Chr 12 "Protein phosphatase 1 regulat...
TRPV4
transient receptor potential cation channel subfamily V member 4
142 variants Chr 12 "Transient receptor potential ...
MVK
mevalonate kinase
134 variants Chr 12
OTOGL
otogelin like
126 variants Chr 12
PFKM
phosphofructokinase, muscle
126 variants Chr 12 "Protein phosphatase 1 regulat...
ACADS
acyl-CoA dehydrogenase short chain
121 variants Chr 12 "Acyl-CoA dehydrogenase family...
PEX5
peroxisomal biogenesis factor 5
112 variants Chr 12 "Tetratricopeptide repeat doma...
MMAB
metabolism of cobalamin associated B
107 variants Chr 12 Cilia and flagella associated
AAAS
aladin WD repeat nucleoporin
93 variants Chr 12 "WD repeat domain containing|N...
POLR3B
RNA polymerase III subunit B
92 variants Chr 12 RNA polymerase subunits
KRT5
keratin 5
91 variants Chr 12 Keratins, type II
SUOX
sulfite oxidase
91 variants Chr 12
CYP27B1
cytochrome P450 family 27 subfamily B member 1
90 variants Chr 12 Cytochrome P450 family 27
ARID2
AT-rich interaction domain 2
86 variants Chr 12 "AT-rich interaction domain co...
A2ML1
alpha-2-macroglobulin like 1
84 variants Chr 12 Alpha-2-macroglobulin family
TSFM
Ts translation elongation factor, mitochondrial
84 variants Chr 12
GNS
glucosamine (N-acetyl)-6-sulfatase
82 variants Chr 12 Sulfatases
ITGA7
integrin subunit alpha 7
82 variants Chr 12 Integrin alpha subunits
TCTN2
tectonic family member 2
82 variants Chr 12 "Tectonic proteins|MKS complex...
KRAS
KRAS proto-oncogene, GTPase
81 variants Chr 12 RAS type GTPase family
PUS1
pseudouridine synthase 1
79 variants Chr 12 Pseudouridine synthases
ATP6V0A2
ATPase H+ transporting V0 subunit a2
78 variants Chr 12 V-type ATPase subunits
CHD4
chromodomain helicase DNA binding protein 4
76 variants Chr 12 "PHD finger proteins|SNF2 rela...
SETD1B
SET domain containing 1B, histone lysine methyltransferase
76 variants Chr 12 "Histone lysine methyltransfer...
TBK1
TANK binding kinase 1
75 variants Chr 12 I kappa B kinase family
LEMD3
LEM domain containing 3
72 variants Chr 12 LEM domain containing
TNFRSF1A
TNF receptor superfamily member 1A
72 variants Chr 12 "CD molecules|Tumor necrosis f...
CDK4
cyclin dependent kinase 4
70 variants Chr 12 "Cyclin dependent kinases|Micr...
DNM1L
dynamin 1 like
70 variants Chr 12 Dynamin superfamily
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