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)
CAST
calpastatin
15 variants Chr 5
CCDC8
coiled-coil domain containing 8 subunit of 3M complex
15 variants Chr 19 "Protein phosphatase 1 regulat...
CDH15
cadherin 15
15 variants Chr 16 Type I classical cadherins
CEP55
centrosomal protein 55
15 variants Chr 10
CEP85L
centrosomal protein 85L
15 variants Chr 6
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
15 variants Chr 22 Coiled-coil-helix-coiled-coil-...
CHD1
chromodomain helicase DNA binding protein 1
15 variants Chr 5 SNF2 related family
CORO1A
coronin 1A
15 variants Chr 16 "WD repeat domain containing|C...
CRYBB3
crystallin beta B3
15 variants Chr 22 Beta-gamma crystallins
CSF2RB
colony stimulating factor 2 receptor subunit beta
15 variants Chr 22 "CD molecules|Fibronectin type...
DACT1
dishevelled binding antagonist of beta catenin 1
15 variants Chr 14 Dishevelled binding antagonist...
DIABLO
diablo IAP-binding mitochondrial protein
15 variants Chr 12
DNAJB13
DnaJ heat shock protein family (Hsp40) member B13
15 variants Chr 11 DNAJ (HSP40) heat shock protei...
DNAJC6
DnaJ heat shock protein family (Hsp40) member C6
15 variants Chr 1 "DNAJ (HSP40) heat shock prote...
DNASE1L3
deoxyribonuclease 1L3
15 variants Chr 3
EDARADD
EDAR associated via death domain
15 variants Chr 1
FARSB
phenylalanyl-tRNA synthetase subunit beta
15 variants Chr 2 Aminoacyl tRNA synthetases, Cl...
FNIP1
folliculin interacting protein 1
15 variants Chr 5 DENN domain containing
FOXH1
forkhead box H1
15 variants Chr 8 Forkhead boxes
FTSJ1
FtsJ RNA 2'-O-methyltransferase 1
15 variants Chr X "7BS 2'O-ribose DNA/RNA methyl...
GCNT2
glucosaminyl (N-acetyl) transferase 2 (I blood group)
15 variants Chr 6 "Glucosaminyl (N-acetyl) trans...
GEN1
GEN1 structure-specific endonuclease
15 variants Chr 2 Rad2/XPG endonuclease family
GJA5
gap junction protein alpha 5
15 variants Chr 1 Gap junction proteins
GNAI1
G protein subunit alpha i1
15 variants Chr 7 G protein subunits alpha, grou...
GPC4
glypican 4
15 variants Chr X Glypicans
GPX4
glutathione peroxidase 4
15 variants Chr 19 "Selenoproteins|Glutathione pe...
GRID2
glutamate ionotropic receptor delta type subunit 2
15 variants Chr 4 Glutamate ionotropic receptor ...
GRIK2
glutamate ionotropic receptor kainate type subunit 2
15 variants Chr 6 Glutamate ionotropic receptor ...
GRXCR1
glutaredoxin and cysteine rich domain containing 1
15 variants Chr 4 "Protein phosphatase 1 regulat...
H6PD
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
15 variants Chr 1
HFM1
helicase for meiosis 1
15 variants Chr 1
JAM3
junctional adhesion molecule 3
15 variants Chr 11 "V-set domain containing|Ig-li...
KCNN2
potassium calcium-activated channel subfamily N member 2
15 variants Chr 5 Potassium calcium-activated ch...
KCTD1
potassium channel tetramerization domain containing 1
15 variants Chr 18 "BTB domain containing|MicroRN...
KRT4
keratin 4
15 variants Chr 12 Keratins, type II
KRT83
keratin 83
15 variants Chr 12 Keratins, type II
MGME1
mitochondrial genome maintenance exonuclease 1
15 variants Chr 20 Exonucleases
MPLKIP
M-phase specific PLK1 interacting protein
15 variants Chr 7
MSX2
msh homeobox 2
15 variants Chr 5 NKL subclass homeoboxes and ps...
MYO1A
myosin IA
15 variants Chr 12 Myosin heavy chains, class I
NCKAP1L
NCK associated protein 1 like
15 variants Chr 12
NDUFA9
NADH:ubiquinone oxidoreductase subunit A9
15 variants Chr 12 "Short chain dehydrogenase/red...
NGF
nerve growth factor
15 variants Chr 1 Neurotrophins
NLGN3
neuroligin 3
15 variants Chr X Neuroligins
NOVA2
NOVA alternative splicing regulator 2
15 variants Chr 19
NR3C1
nuclear receptor subfamily 3 group C member 1
15 variants Chr 5 Nuclear receptor subfamily 3 g...
NUP188
nucleoporin 188
15 variants Chr 9 "Nucleoporins|Armadillo like h...
OGT
O-linked N-acetylglucosamine (GlcNAc) transferase
15 variants Chr X "O-linked N-acetylglucosaminyl...
OTULIN
OTU deubiquitinase with linear linkage specificity
15 variants Chr 5 OTU domain containing
PDLIM3
PDZ and LIM domain 3
15 variants Chr 4 "LIM domain containing|PDZ dom...
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