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)
CEP120
centrosomal protein 120
49 variants Chr 5
CEP83
centrosomal protein 83
49 variants Chr 12
DHDDS
dehydrodolichyl diphosphate synthase subunit
49 variants Chr 1 Dehydrodolichyl diphosphate sy...
EGLN1
egl-9 family hypoxia inducible factor 1
49 variants Chr 1 Zinc fingers MYND-type
EXOSC3
exosome component 3
49 variants Chr 9 Exosome complex
FOXE3
forkhead box E3
49 variants Chr 1 Forkhead boxes
GHRHR
growth hormone releasing hormone receptor
49 variants Chr 7 Glucagon receptor family
KCNA1
potassium voltage-gated channel subfamily A member 1
49 variants Chr 12 "Potassium voltage-gated chann...
LCAT
lecithin-cholesterol acyltransferase
49 variants Chr 16
LMF1
lipase maturation factor 1
49 variants Chr 16
P3H2
prolyl 3-hydroxylase 2
49 variants Chr 3 Prolyl 3-hydroxylase family
PTPRC
protein tyrosine phosphatase receptor type C
49 variants Chr 1 "CD molecules|Fibronectin type...
VIPAS39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
49 variants Chr 14
YARS2
tyrosyl-tRNA synthetase 2
49 variants Chr 12 Aminoacyl tRNA synthetases, Cl...
ZC4H2
zinc finger C4H2-type containing
49 variants Chr X Zinc fingers
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2
48 variants Chr 9 "1-acylglycerol-3-phosphate O-...
BLTP1
bridge-like lipid transfer protein family member 1
48 variants Chr 4 Bridge-like lipid transfer pro...
C2
complement C2
48 variants Chr 6 "Sushi domain containing|Compl...
CNTN2
contactin 2
48 variants Chr 1 "I-set domain containing|Conta...
CYFIP2
cytoplasmic FMR1 interacting protein 2
48 variants Chr 5 SCAR/WAVE complex
FASTKD2
FAST kinase domains 2
48 variants Chr 2 "FASTK mitochondrial RNA bindi...
FLT4
fms related receptor tyrosine kinase 4
48 variants Chr 5 "Receptor tyrosine kinases|I-s...
GPAA1
glycosylphosphatidylinositol anchor attachment 1
48 variants Chr 8 Glycosylphosphatidylinositol t...
HYAL1
hyaluronidase 1
48 variants Chr 3 Hyaluronidases
IFT74
intraflagellar transport 74
48 variants Chr 9 IFT-B1 complex
KNL1
kinetochore scaffold 1
48 variants Chr 15 "Protein phosphatase 1 regulat...
MARVELD2
MARVEL domain containing 2
48 variants Chr 5 MARVEL domain containing
MEGF8
multiple EGF like domains 8
48 variants Chr 19 MicroRNA protein coding host g...
NYX
nyctalopin
48 variants Chr X
PBX1
PBX homeobox 1
48 variants Chr 1 TALE class homeoboxes and pseu...
PDHX
pyruvate dehydrogenase complex component X
48 variants Chr 11 "Pyruvate dehydrogenase comple...
PNPO
pyridoxamine 5'-phosphate oxidase
48 variants Chr 17 Flavoproteins
PPARG
peroxisome proliferator activated receptor gamma
48 variants Chr 3 Peroxisome proliferator activa...
RNASEH2A
ribonuclease H2 subunit A
48 variants Chr 19
RYR3
ryanodine receptor 3
48 variants Chr 15 "Ryanodine receptors|EF-hand d...
TFAP2A
transcription factor AP-2 alpha
48 variants Chr 6 Transcription factor AP-2 fami...
ACTL6B
actin like 6B
47 variants Chr 7 "Actin related proteins|BAF co...
AP4E1
adaptor related protein complex 4 subunit epsilon 1
47 variants Chr 15 "Clathrin/coatomer adaptor, ad...
ARL13B
ARF like GTPase 13B
47 variants Chr 3 ARF GTPase family
CARD9
caspase recruitment domain family member 9
47 variants Chr 9 Caspase recruitment domain con...
CEP104
centrosomal protein 104
47 variants Chr 1 "Cilia and flagella associated...
DCC
DCC netrin 1 receptor
47 variants Chr 18 "Fibronectin type III domain c...
DNAAF11
dynein axonemal assembly factor 11
47 variants Chr 8 Axonemal dynein assembly facto...
EIF2B4
eukaryotic translation initiation factor 2B subunit delta
47 variants Chr 2
FBN3
fibrillin 3
47 variants Chr 19 Fibrillin family
GP1BA
glycoprotein Ib platelet subunit alpha
47 variants Chr 17 "CD molecules|Human platelet a...
HFE
homeostatic iron regulator
47 variants Chr 6 C1-set domain containing
IL10RA
interleukin 10 receptor subunit alpha
47 variants Chr 11 "CD molecules|Interleukin rece...
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1
47 variants Chr 15 F-BAR domain containing
ROBO1
roundabout guidance receptor 1
47 variants Chr 3 "Fibronectin type III domain c...
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