Amaurosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1857588
Similar Terms
Downloads & Tools

Genes

81 genes associated with the disease Amaurosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
BCL6 B-cell CLL/lymphoma 6
BEST1 bestrophin 1
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CCT2 chaperonin containing TCP1, subunit 2 (beta)
CEP290 centrosomal protein 290kDa
CLTA clathrin, light chain A
CNGA3 cyclic nucleotide gated channel alpha 3
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CNTLN centlein, centrosomal protein
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRB2 crumbs family member 2
CRX cone-rod homeobox
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa
CXCL8 chemokine (C-X-C motif) ligand 8
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DIO3 deiodinase, iodothyronine, type III
ERBB2 erb-b2 receptor tyrosine kinase 2
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)
GFAP glial fibrillary acidic protein
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GRB10 growth factor receptor-bound protein 10
GRK1 G protein-coupled receptor kinase 1
GUCA1A guanylate cyclase activator 1A (retina)
GUCA2A guanylate cyclase activator 2A (guanylin)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HEXA hexosaminidase A (alpha polypeptide)
IFT140 intraflagellar transport 140
IL6 interleukin 6
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IQCB1 IQ motif containing B1
IRF1 interferon regulatory factor 1
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KRT20 keratin 20, type I
LCA5 Leber congenital amaurosis 5
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MEF2C myocyte enhancer factor 2C
MERTK MER proto-oncogene, tyrosine kinase
MITF microphthalmia-associated transcription factor
MPP5 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYO7A myosin VIIA
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NUB1 negative regulator of ubiquitin-like proteins 1
NYX nyctalopin
OLFM4 olfactomedin 4
OTX2 orthodenticle homeobox 2
PCYT1B phosphate cytidylyltransferase 1, choline, beta
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
POC1B POC1 centriolar protein B
PROM1 prominin 1
PRPH2 peripherin 2 (retinal degeneration, slow)
PTPRC protein tyrosine phosphatase, receptor type, C
RBP3 retinol binding protein 3, interstitial
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RHEB Ras homolog enriched in brain
RHO rhodopsin
RPE ribulose-5-phosphate-3-epimerase
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPS19 ribosomal protein S19
SH2D3A SH2 domain containing 3A
SLC16A12 solute carrier family 16, member 12
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC7A14 solute carrier family 7, member 14
SORD sorbitol dehydrogenase
SPATA7 spermatogenesis associated 7
SQSTM1 sequestosome 1
TNF tumor necrosis factor
TNFRSF8 tumor necrosis factor receptor superfamily, member 8
TUB tubby bipartite transcription factor
TUBB4B tubulin, beta 4B class IVb
TULP1 tubby like protein 1