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)
GRHPR
glyoxylate and hydroxypyruvate reductase
160 variants Chr 9
KCNJ11
potassium inwardly rectifying channel subfamily J member 11
160 variants Chr 11 Potassium inwardly rectifying ...
KIAA0586
KIAA0586
160 variants Chr 14
LCA5
lebercilin LCA5
160 variants Chr 6
SURF1
SURF1 cytochrome c oxidase assembly factor
160 variants Chr 9 Mitochondrial respiratory chai...
CDKN1C
cyclin dependent kinase inhibitor 1C
159 variants Chr 11
KIF7
kinesin family member 7
159 variants Chr 15 Kinesins
NALCN
sodium leak channel, non-selective
159 variants Chr 13 "Sodium leak channels, non sel...
OCRL
OCRL inositol polyphosphate-5-phosphatase
159 variants Chr X Phosphoinositide phosphatases
P3H1
prolyl 3-hydroxylase 1
159 variants Chr 1 Prolyl 3-hydroxylase family
PRRT2
proline rich transmembrane protein 2
159 variants Chr 16 Dispanins
TBC1D24
TBC1 domain family member 24
159 variants Chr 16 TLDc domain containing
ADGRG1
adhesion G protein-coupled receptor G1
158 variants Chr 16 Adhesion G protein-coupled rec...
DNAI1
dynein axonemal intermediate chain 1
158 variants Chr 9 "WD repeat domain containing|D...
IMPG2
interphotoreceptor matrix proteoglycan 2
158 variants Chr 3
MAGEL2
MAGE family member L2
158 variants Chr 15 MAGE family
NPHS2
NPHS2 stomatin family member, podocin
158 variants Chr 1 Stomatin family
PIEZO2
piezo type mechanosensitive ion channel component 2
158 variants Chr 18 "Armadillo like helical domain...
PRX
periaxin
158 variants Chr 19 PDZ domain containing
TGFBR1
transforming growth factor beta receptor 1
158 variants Chr 9 Type 1 receptor serine/threoni...
BBS4
Bardet-Biedl syndrome 4
157 variants Chr 15 "Tetratricopeptide repeat doma...
CLN5
CLN5 lysosomal BMP synthase
157 variants Chr 13
G6PC1
glucose-6-phosphatase catalytic subunit 1
157 variants Chr 17 Glucose 6-phosphatases, cataly...
KIF5A
kinesin family member 5A
157 variants Chr 12 Kinesins
LIFR
LIF receptor subunit alpha
157 variants Chr 5 "CD molecules|Fibronectin type...
NPHP1
nephrocystin 1
157 variants Chr 2 NPHP complex
COQ8A
coenzyme Q8A
156 variants Chr 1 ADCK family
EFTUD2
elongation factor Tu GTP binding domain containing 2
156 variants Chr 17 "U5 small nuclear ribonucleopr...
HMBS
hydroxymethylbilane synthase
156 variants Chr 11
CUL7
cullin 7
155 variants Chr 6 "Cullins|3M complex subunits"
LAMC3
laminin subunit gamma 3
155 variants Chr 9 Laminin subunits
LDB3
LIM domain binding 3
155 variants Chr 10 "LIM domain containing|PDZ dom...
LTBP2
latent transforming growth factor beta binding protein 2
155 variants Chr 14 Latent transforming growth fac...
SMARCE1
SWI/SNF related BAF chromatin remodeling complex subunit E1
155 variants Chr 17 "BAF complex subunits|PBAF com...
AMT
aminomethyltransferase
154 variants Chr 3 "Small molecule methyltransfer...
EPHB4
EPH receptor B4
154 variants Chr 7 "Sterile alpha motif domain co...
MFSD8
major facilitator superfamily domain containing 8
154 variants Chr 4 Solute carrier family 74
PSEN1
presenilin 1
154 variants Chr 14 "Presenilin family|Gamma-secre...
SDHD
succinate dehydrogenase complex subunit D
154 variants Chr 11 Mitochondrial complex II: succ...
TULP1
TUB like protein 1
154 variants Chr 6
BRAT1
BRCA1 associated ATM activator 1
153 variants Chr 7
CLN6
CLN6 transmembrane ER protein
153 variants Chr 15
GRIN1
glutamate ionotropic receptor NMDA type subunit 1
153 variants Chr 9 Glutamate ionotropic receptor ...
PANK2
pantothenate kinase 2
153 variants Chr 20 "MicroRNA protein coding host ...
DNAH9
dynein axonemal heavy chain 9
152 variants Chr 17 Dyneins, axonemal outer arm co...
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
152 variants Chr 5 Gamma-aminobutyric acid type A...
RP2
RP2 activator of ARL3 GTPase
152 variants Chr X
WDR19
WD repeat domain 19
152 variants Chr 4 "WD repeat domain containing|I...
ALOX12B
arachidonate 12-lipoxygenase, 12R type
151 variants Chr 17 Arachidonate lipoxygenases
ITPR1
inositol 1,4,5-trisphosphate receptor type 1
151 variants Chr 3 "Inositol 1,4,5-triphosphate r...
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