Gene Directory

198 genes with known genetic variants in our database.

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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)
EIF2B2
eukaryotic translation initiation factor 2B subunit beta
44 variants Chr 14
COCH
cochlin
40 variants Chr 14
ESRRB
estrogen related receptor beta
40 variants Chr 14 Estrogen related receptors
ACTN1
actinin alpha 1
39 variants Chr 14 Actinins
COQ6
coenzyme Q6, monooxygenase
38 variants Chr 14 Flavoproteins
TINF2
TERF1 interacting nuclear factor 2
38 variants Chr 14 Shelterin complex
BMP4
bone morphogenetic protein 4
37 variants Chr 14 Bone morphogenetic proteins
NUBPL
NUBP iron-sulfur cluster assembly factor, mitochondrial
37 variants Chr 14 "Mitochondrial respiratory cha...
PNP
purine nucleoside phosphorylase
36 variants Chr 14
YY1
YY1 transcription factor
36 variants Chr 14 "Zinc fingers C2H2-type|INO80 ...
DDHD1
DDHD domain containing 1
34 variants Chr 14
IFT43
intraflagellar transport 43
34 variants Chr 14 IFT-A complex
ABCD4
ATP binding cassette subfamily D member 4
33 variants Chr 14 ATP binding cassette subfamily...
SIX1
SIX homeobox 1
33 variants Chr 14 SINE class homeoboxes
FBLN5
fibulin 5
31 variants Chr 14 Fibulins
MTHFD1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
31 variants Chr 14 Minor histocompatibility antig...
NIN
ninein
31 variants Chr 14 EF-hand domain containing
NRL
neural retina leucine zipper
30 variants Chr 14 Large MAF bZIP transcription f...
KCNH5
potassium voltage-gated channel subfamily H member 5
28 variants Chr 14 "Potassium voltage-gated chann...
ADSS1
adenylosuccinate synthase 1
27 variants Chr 14
SPTLC2
serine palmitoyltransferase long chain base subunit 2
27 variants Chr 14 Serine palmitoyltransferase lo...
NFKBIA
NFKB inhibitor alpha
25 variants Chr 14 Ankyrin repeat domain containi...
OSGEP
O-sialoglycoprotein endopeptidase
25 variants Chr 14 KEOPS complex
TMEM260
transmembrane protein 260
25 variants Chr 14
AP4S1
adaptor related protein complex 4 subunit sigma 1
24 variants Chr 14 Adaptor related protein comple...
NEMF
nuclear export mediator factor
24 variants Chr 14
CDC42BPB
CDC42 binding protein kinase beta
23 variants Chr 14 CDC42 binding protein kinase f...
NEK9
NIMA related kinase 9
22 variants Chr 14 NIMA related kinase family
COA8
cytochrome c oxidase assembly factor 8
20 variants Chr 14 Mitochondrial respiratory chai...
FLVCR2
FLVCR choline and putative heme transporter 2
20 variants Chr 14 "MicroRNA protein coding host ...
MGAT2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
18 variants Chr 14 Mannosyl-glycoprotein N-acetyl...
SMOC1
SPARC related modular calcium binding 1
17 variants Chr 14 SPARC family
AKT1
AKT serine/threonine kinase 1
16 variants Chr 14 "Pleckstrin homology domain co...
BRF1
BRF1 general transcription factor IIIB subunit
16 variants Chr 14 "General transcription factors...
CALM1
calmodulin 1
15 variants Chr 14 "Receptor ligands|EF-hand doma...
DACT1
dishevelled binding antagonist of beta catenin 1
15 variants Chr 14 Dishevelled binding antagonist...
SIX6
SIX homeobox 6
15 variants Chr 14 SINE class homeoboxes
CEBPE
CCAAT enhancer binding protein epsilon
13 variants Chr 14 "Basic leucine zipper proteins...
TOGARAM1
TOG array regulator of axonemal microtubules 1
13 variants Chr 14 TOG domain containing
ZFHX2
zinc finger homeobox 2
13 variants Chr 14 "Zinc fingers C2H2-type|Zinc f...
ALDH6A1
aldehyde dehydrogenase 6 family member A1
12 variants Chr 14 Aldehyde dehydrogenases
ANG
angiogenin
12 variants Chr 14 Ribonuclease A family
PRKD1
protein kinase D1
12 variants Chr 14 "Pleckstrin homology domain co...
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1
12 variants Chr 14
SLC10A1
solute carrier family 10 member 1
12 variants Chr 14 Solute carrier family 10
SRP54
signal recognition particle 54
12 variants Chr 14 "Signal recognition particle|S...
DNAL1
dynein axonemal light chain 1
10 variants Chr 14 Dyneins, axonemal outer arm co...
HIF1A
hypoxia inducible factor 1 subunit alpha
10 variants Chr 14 "Basic helix-loop-helix protei...
PABPN1
poly(A) binding protein nuclear 1
10 variants Chr 14 RNA binding motif containing
CFL2
cofilin 2
9 variants Chr 14 Cofilin family
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