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)
MYT1L
myelin transcription factor 1 like
83 variants Chr 2 Zinc fingers C2H2C-type
OPA3
outer mitochondrial membrane lipid metabolism regulator OPA3
83 variants Chr 19
PHYH
phytanoyl-CoA 2-hydroxylase
83 variants Chr 10
RNF43
ring finger protein 43
83 variants Chr 17 Ring finger proteins
RPL5
ribosomal protein L5
83 variants Chr 1 "Protein phosphatase 1 regulat...
SPEN
spen family transcriptional repressor
83 variants Chr 1 RNA binding motif containing
TRPC6
transient receptor potential cation channel subfamily C member 6
83 variants Chr 11 "Transient receptor potential ...
VPS13C
vacuolar protein sorting 13 homolog C
83 variants Chr 15 Bridge-like lipid transfer pro...
CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
82 variants Chr 3 Calcium voltage-gated channel ...
DARS2
aspartyl-tRNA synthetase 2, mitochondrial
82 variants Chr 1 Aminoacyl tRNA synthetases, Cl...
DCTN1
dynactin subunit 1
82 variants Chr 2 Dynactin subunits
GNS
glucosamine (N-acetyl)-6-sulfatase
82 variants Chr 12 Sulfatases
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
82 variants Chr 1 Short chain dehydrogenase/redu...
ITGA7
integrin subunit alpha 7
82 variants Chr 12 Integrin alpha subunits
PEX26
peroxisomal biogenesis factor 26
82 variants Chr 22 Peroxins
SCN1B
sodium voltage-gated channel beta subunit 1
82 variants Chr 19 "V-set domain containing|Sodiu...
SDCCAG8
SHH signaling and ciliogenesis regulator SDCCAG8
82 variants Chr 1 MicroRNA protein coding host g...
TCTN2
tectonic family member 2
82 variants Chr 12 "Tectonic proteins|MKS complex...
ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
81 variants Chr 16 ATPases Ca2+ transporting
CHRNA2
cholinergic receptor nicotinic alpha 2 subunit
81 variants Chr 8 Cholinergic receptors nicotini...
DGUOK
deoxyguanosine kinase
81 variants Chr 2 Deoxyribonucleoside kinases
EBP
EBP cholestenol delta-isomerase
81 variants Chr X AEBS complex subunits
ELAC2
elaC ribonuclease Z 2
81 variants Chr 17 "MBL fold containing DNA/RNA i...
FUCA1
alpha-L-fucosidase 1
81 variants Chr 1 Alpha-L-fucosidases
IMPG1
interphotoreceptor matrix proteoglycan 1
81 variants Chr 6
KIDINS220
kinase D interacting substrate 220
81 variants Chr 2 Ankyrin repeat domain containi...
KRAS
KRAS proto-oncogene, GTPase
81 variants Chr 12 RAS type GTPase family
LAMA5
laminin subunit alpha 5
81 variants Chr 20 "Laminin subunits|MicroRNA pro...
REEP1
receptor accessory protein 1
81 variants Chr 2 Receptor accessory proteins
XDH
xanthine dehydrogenase
81 variants Chr 2 "Flavoproteins|Xanthine dehydr...
CLCNKB
chloride voltage-gated channel Kb
80 variants Chr 1 CLC chloride channel and trans...
CTSD
cathepsin D
80 variants Chr 11 "Cathepsins|Peptidase family A...
FZD4
frizzled class receptor 4
80 variants Chr 11 "G protein-coupled receptors, ...
GATA3
GATA binding protein 3
80 variants Chr 10 GATA zinc finger domain contai...
IFT80
intraflagellar transport 80
80 variants Chr 3 "WD repeat domain containing|I...
LTBP3
latent transforming growth factor beta binding protein 3
80 variants Chr 11 Latent transforming growth fac...
NEU1
neuraminidase 1
80 variants Chr 6 Neuraminidases
SBF1
SET binding factor 1
80 variants Chr 22 "DENN domain containing|Plecks...
SCN11A
sodium voltage-gated channel alpha subunit 11
80 variants Chr 3 Sodium voltage-gated channel a...
TRAPPC11
trafficking protein particle complex subunit 11
80 variants Chr 4 Trafficking protein particle c...
VCL
vinculin
80 variants Chr 10
ETHE1
ETHE1 persulfide dioxygenase
79 variants Chr 19 MBL domain containing glyoxala...
GHR
growth hormone receptor
79 variants Chr 5 Fibronectin type III domain co...
GNPAT
glyceronephosphate O-acyltransferase
79 variants Chr 1
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
79 variants Chr 5 Cyclic nucleotide gated channe...
LTBP4
latent transforming growth factor beta binding protein 4
79 variants Chr 19 Latent transforming growth fac...
NCF2
neutrophil cytosolic factor 2
79 variants Chr 1 Tetratricopeptide repeat domai...
PUS1
pseudouridine synthase 1
79 variants Chr 12 Pseudouridine synthases
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
79 variants Chr 2
SQSTM1
sequestosome 1
79 variants Chr 5 Zinc fingers ZZ-type
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