Gene Directory

6,394 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)
RPGRIP1
RPGR interacting protein 1
189 variants Chr 14 C2 domain containing
SI
sucrase-isomaltase
189 variants Chr 3 Glycoside hydrolase family 31
CYBB
cytochrome b-245 beta chain
188 variants Chr X "Flavoproteins|NADH oxidase fa...
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
187 variants Chr 1 ATPase Na+/K+ transporting sub...
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
187 variants Chr 19 ATPase Na+/K+ transporting sub...
PURA
purine rich element binding protein A
187 variants Chr 5
SLC4A11
solute carrier family 4 member 11
187 variants Chr 20 Solute carrier family 4
ABCC9
ATP binding cassette subfamily C member 9
186 variants Chr 12 ATP binding cassette subfamily...
BBS12
Bardet-Biedl syndrome 12
186 variants Chr 4 Chaperonins
MYH3
myosin heavy chain 3
186 variants Chr 17 Myosin heavy chains, class II
TUBA1A
tubulin alpha 1a
186 variants Chr 12 Tubulin alpha family
MCCC2
methylcrotonyl-CoA carboxylase subunit 2
185 variants Chr 5 Methylcrotonyl-CoA carboxylase...
ABCA1
ATP binding cassette subfamily A member 1
184 variants Chr 9 "ATP binding cassette subfamil...
FOXP1
forkhead box P1
184 variants Chr 3 "Forkhead boxes|MicroRNA prote...
ATP8B1
ATPase phospholipid transporting 8B1
183 variants Chr 18 ATPase phospholipid transporti...
FAM161A
FAM161 centrosomal protein A
183 variants Chr 2
JUP
junction plakoglobin
183 variants Chr 17 "Armadillo repeat containing|B...
OTOG
otogelin
183 variants Chr 11
SATB2
SATB homeobox 2
183 variants Chr 2 CUT class homeoboxes and pseud...
SCN10A
sodium voltage-gated channel alpha subunit 10
183 variants Chr 3 Sodium voltage-gated channel a...
TBX5
T-box transcription factor 5
183 variants Chr 12 T-box transcription factors
TFR2
transferrin receptor 2
183 variants Chr 7 M28 metallopeptidases
WAS
WASP actin nucleation promoting factor
183 variants Chr X Wiskott-Aldrich Syndrome prote...
ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2
182 variants Chr 5 ADAM metallopeptidases with th...
ALDH5A1
aldehyde dehydrogenase 5 family member A1
182 variants Chr 6 Aldehyde dehydrogenases
ATR
ATR checkpoint kinase
182 variants Chr 3 "Armadillo like helical domain...
CEP152
centrosomal protein 152
182 variants Chr 15
ADNP
activity dependent neuroprotector homeobox
181 variants Chr 20 "Zinc fingers C2H2-type|ZF cla...
DES
desmin
181 variants Chr 2 Intermediate filaments Type II...
DOCK8
dedicator of cytokinesis 8
181 variants Chr 9 "Armadillo like helical domain...
SLC37A4
solute carrier family 37 member 4
181 variants Chr 11 Solute carrier family 37
GBA1
glucosylceramidase beta 1
180 variants Chr 1 "Glycoside hydrolase family|Gl...
COL27A1
collagen type XXVII alpha 1 chain
179 variants Chr 9 "MicroRNA protein coding host ...
MPL
MPL proto-oncogene, thrombopoietin receptor
179 variants Chr 1 "CD molecules|Fibronectin type...
DOK7
docking protein 7
178 variants Chr 4
SPRED1
sprouty related EVH1 domain containing 1
178 variants Chr 15 "Protein phosphatase 1 regulat...
HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase
177 variants Chr 8
NRXN1
neurexin 1
177 variants Chr 2 "Neurexins|MicroRNA protein co...
PNPLA6
patatin like domain 6, lysophospholipase
177 variants Chr 19 Patatin like phospholipase dom...
ALDH3A2
aldehyde dehydrogenase 3 family member A2
176 variants Chr 17 Aldehyde dehydrogenases
CDC73
cell division cycle 73
176 variants Chr 1 "Paf1/RNA polymerase II comple...
CTC1
CST telomere replication complex component 1
176 variants Chr 17 CST complex
OFD1
OFD1 centriole and centriolar satellite protein
176 variants Chr X
SKIC3
SKI3 subunit of superkiller complex
176 variants Chr 5 "Tetratricopeptide repeat doma...
CPT1A
carnitine palmitoyltransferase 1A
175 variants Chr 11 Carnitine palmitoyltransferase...
FAT4
FAT atypical cadherin 4
175 variants Chr 4 Cadherin related
PIGN
phosphatidylinositol glycan anchor biosynthesis class N
175 variants Chr 18 Phosphatidylinositol glycan an...
DPYD
dihydropyrimidine dehydrogenase
174 variants Chr 1 Flavoproteins
WDR45
WD repeat domain 45
174 variants Chr X "WD repeat domain containing|W...
HNRNPU
heterogeneous nuclear ribonucleoprotein U
173 variants Chr 1 Heterogeneous nuclear ribonucl...
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