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)
SLC25A13
solute carrier family 25 member 13
208 variants Chr 7 "EF-hand domain containing|Mic...
EXT2
exostosin glycosyltransferase 2
207 variants Chr 11 Exostosin glycosyltransferase ...
GFM1
G elongation factor mitochondrial 1
207 variants Chr 3 Translational GTPases
SGCA
sarcoglycan alpha
207 variants Chr 17
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin
207 variants Chr 16 AAA ATPases
FREM2
FRAS1 related extracellular matrix 2
206 variants Chr 13
GNAS
GNAS complex locus
206 variants Chr 20 "Granins|G protein subunits al...
MCCC1
methylcrotonyl-CoA carboxylase subunit 1
206 variants Chr 3 Methylcrotonyl-CoA carboxylase...
POGZ
pogo transposable element derived with ZNF domain
206 variants Chr 1 "Zinc fingers C2H2-type|Helix-...
ACAT1
acetyl-CoA acetyltransferase 1
205 variants Chr 11
CTNNB1
catenin beta 1
205 variants Chr 3 "Armadillo repeat containing|B...
GBE1
1,4-alpha-glucan branching enzyme 1
205 variants Chr 3
SLC4A1
solute carrier family 4 member 1 (Diego blood group)
205 variants Chr 17 "Blood group antigens|CD molec...
CASK
calcium/calmodulin dependent serine protein kinase
204 variants Chr X "Membrane associated guanylate...
SRCAP
Snf2 related CREBBP activator protein
204 variants Chr 16 "SNF2 related family|SRCAP com...
BCKDHA
branched chain keto acid dehydrogenase E1 subunit alpha
203 variants Chr 19 Branched chain alpha-keto acid...
BCKDHB
branched chain keto acid dehydrogenase E1 subunit beta
203 variants Chr 6 Branched chain alpha-keto acid...
HNF4A
hepatocyte nuclear factor 4 alpha
203 variants Chr 20 "MicroRNA protein coding host ...
POMT2
protein O-mannosyltransferase 2
203 variants Chr 14 Dolichyl D-mannosyl phosphate ...
CLN3
CLN3 lysosomal/endosomal transmembrane protein, battenin
202 variants Chr 16 Solute carrier family 29
FANCG
FA complementation group G
202 variants Chr 9 "FA complementation groups|FA ...
MPZ
myelin protein zero
202 variants Chr 1 "V-set domain containing|Ig-li...
MTHFR
methylenetetrahydrofolate reductase
202 variants Chr 1 Flavoproteins
PROM1
prominin 1
202 variants Chr 4 "CD molecules|Prominin family"
SPTBN2
spectrin beta, non-erythrocytic 2
201 variants Chr 11 "Pleckstrin homology domain co...
CERKL
CERK like autophagy regulator
200 variants Chr 2
ACAD9
acyl-CoA dehydrogenase family member 9
199 variants Chr 3 "Acyl-CoA dehydrogenase family...
F11
coagulation factor XI
199 variants Chr 4
KMT2C
lysine methyltransferase 2C
199 variants Chr 7 "PHD finger proteins|Histone l...
SLC6A1
solute carrier family 6 member 1
198 variants Chr 3 Solute carrier family 6
SUFU
SUFU negative regulator of hedgehog signaling
198 variants Chr 10
ACTA1
actin alpha 1, skeletal muscle
197 variants Chr 1 Actins
IFT172
intraflagellar transport 172
196 variants Chr 2 "WD repeat domain containing|I...
RMRP
RNA component of mitochondrial RNA processing endoribonuclease
196 variants Chr 9 RNase MRP complex subunits
CACNA1F
calcium voltage-gated channel subunit alpha1 F
193 variants Chr X Calcium voltage-gated channel ...
FAH
fumarylacetoacetate hydrolase
193 variants Chr 15
SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1
193 variants Chr 18
WDR62
WD repeat domain 62
193 variants Chr 19 WD repeat domain containing
COL17A1
collagen type XVII alpha 1 chain
192 variants Chr 10 "MicroRNA protein coding host ...
CCDC39
coiled-coil domain 39 molecular ruler complex subunit
191 variants Chr 3 Cilia and flagella associated
TYMP
thymidine phosphorylase
191 variants Chr 22 Minor histocompatibility antig...
CNTNAP2
contactin associated protein 2
190 variants Chr 7 Contactin associated protein f...
CTNS
cystinosin, lysosomal cystine transporter
190 variants Chr 17 Solute carrier family 66
CYP11B1
cytochrome P450 family 11 subfamily B member 1
190 variants Chr 8 Cytochrome P450 family 11
HEXB
hexosaminidase subunit beta
190 variants Chr 5 Hexosaminidases
PCARE
photoreceptor cilium actin regulator
190 variants Chr 2
PNKP
polynucleotide kinase 3'-phosphatase
190 variants Chr 19 HAD Asp-based non-protein phos...
SMARCAL1
SNF2 related chromatin remodeling annealing helicase 1
190 variants Chr 2 SNF2 related family
TTC21B
tetratricopeptide repeat domain 21B
190 variants Chr 2 "Tetratricopeptide repeat doma...
PTPN11
protein tyrosine phosphatase non-receptor type 11
189 variants Chr 12 "SH2 domain containing|Protein...
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