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)

phospholipase A2 group VI

231 variants Chr 22 "Ankyrin repeat domain contain...

Bardet-Biedl syndrome 1

230 variants Chr 11 BBSome

ectodysplasin A

230 variants Chr X "Tumor necrosis factor superfa...

cyclic nucleotide gated channel subunit beta 1

229 variants Chr 16 Cyclic nucleotide gated channe...

229 variants Chr 1 Mitofusin family

gap junction protein beta 2

226 variants Chr 13 Gap junction proteins

phosphodiesterase 6B

226 variants Chr 4 Phosphodiesterases

unc-13 homolog D

226 variants Chr 17 UNC13 homologs

N-sulfoglucosamine sulfohydrolase

225 variants Chr 17 Sulfatases

structural maintenance of chromosomes 1A

225 variants Chr X "Structural maintenance of chr...

225 variants Chr 11

AT-rich interaction domain 1A

224 variants Chr 1 "AT-rich interaction domain co...

phosphomannomutase 2

224 variants Chr 16 HAD Asp-based non-protein phos...

solute carrier family 12 member 6

224 variants Chr 15 Solute carrier family 12

SLX4 structure-specific endonuclease subunit

224 variants Chr 16 "FA complementation groups|BTB...

XPC complex subunit, DNA damage recognition and repair factor

224 variants Chr 3 Xeroderma pigmentosum compleme...

SZT2 subunit of KICSTOR complex

223 variants Chr 1 "KICSTOR complex|MicroRNA prot...

AT-hook DNA binding motif containing 1

222 variants Chr 1

ASXL transcriptional regulator 1

222 variants Chr 20

pre-mRNA processing factor 31

222 variants Chr 19 U4/U6 small nuclear ribonucleo...

myosin light chain kinase

221 variants Chr 3 "Fibronectin type III domain c...

actinin alpha 2

219 variants Chr 1 Actinins

219 variants Chr 9

MKS transition zone complex subunit 1

219 variants Chr 17 "B9 domain containing|MKS comp...

treacle ribosome biogenesis factor 1

219 variants Chr 5 Ribosomal biogenesis factors

autoimmune regulator

218 variants Chr 21 "PHD finger proteins|SAND doma...

KAT8 regulatory NSL complex subunit 1

218 variants Chr 17 NSL histone acetyltransferase ...

SMAD family member 3

218 variants Chr 15 SMAD family

217 variants Chr 7

217 variants Chr 3 "Tetratricopeptide repeat doma...

USH1 protein network component harmonin

217 variants Chr 11 PDZ domain containing

argininosuccinate synthase 1

216 variants Chr 9

potassium sodium-activated channel subfamily T member 1

216 variants Chr 9 Potassium sodium-activated cha...

aldehyde dehydrogenase 7 family member A1

215 variants Chr 5 Aldehyde dehydrogenases

cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)

215 variants Chr 22 Cytochrome P450 family 2

holocarboxylase synthetase

215 variants Chr 21

inverted formin 2

215 variants Chr 14 "Armadillo like helical domain...

ATP binding cassette subfamily A member 3

213 variants Chr 16 "ATP binding cassette subfamil...

BAG cochaperone 3

212 variants Chr 10 BAG cochaperones

211 variants Chr 1 "EF-hand domain containing|S10...

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

211 variants Chr 10 "Biogenesis of lysosomal organ...

210 variants Chr 6 "EF-hand domain containing|Pla...

mediator complex subunit 12

210 variants Chr X Mediator complex

notch receptor 2

210 variants Chr 1 Notch receptors

SET binding protein 1

210 variants Chr 18

ATP binding cassette subfamily B member 4

209 variants Chr 7 "ATP binding cassette subfamil...

ectopic P-granules 5 autophagy tethering factor

209 variants Chr 18

SOS Ras/Rac guanine nucleotide exchange factor 1

209 variants Chr 2 "Pleckstrin homology domain co...

tyrosine hydroxylase

209 variants Chr 11 Aromatic amino acid hydroxylas...

ASXL transcriptional regulator 3

208 variants Chr 18

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