Leber Congenital Amaurosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. (Human Disease Ontology, DOID_14791)
External Link https://www.disgenet.org/browser/0/1/0/C1837873
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
BCL2 B-cell CLL/lymphoma 2
CABP4 calcium binding protein 4
CCT2 chaperonin containing TCP1, subunit 2 (beta)
CDHR1 cadherin-related family member 1
CEP290 centrosomal protein 290kDa
CLTA clathrin, light chain A
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
CNTLN centlein, centrosomal protein
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRB2 crumbs family member 2
CRX cone-rod homeobox
EGF epidermal growth factor
ELOVL4 ELOVL fatty acid elongase 4
ENO2 enolase 2 (gamma, neuronal)
FST follistatin
GDF6 growth differentiation factor 6
GIGYF2 GRB10 interacting GYF protein 2
GRK1 G protein-coupled receptor kinase 1
GRK7 G protein-coupled receptor kinase 7
GRM6 glutamate receptor, metabotropic 6
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUCY2F guanylate cyclase 2F, retinal
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
ICK intestinal cell (MAK-like) kinase
IFT140 intraflagellar transport 140
IFT38 intraflagellar transport 38
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG1 interphotoreceptor matrix proteoglycan 1
IMPG2 interphotoreceptor matrix proteoglycan 2
IQCB1 IQ motif containing B1
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
LCA5 Leber congenital amaurosis 5
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MEF2A myocyte enhancer factor 2A
MEF2C myocyte enhancer factor 2C
MERTK MER proto-oncogene, tyrosine kinase
MKS1 Meckel syndrome, type 1
MPP5 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MYO7A myosin VIIA
NINL ninein-like
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
OTX2 orthodenticle homeobox 2
PBK PDZ binding kinase
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PNPLA6 patatin-like phospholipase domain containing 6
PRDX6 peroxiredoxin 6
PRPF8 pre-mRNA processing factor 8
PRPH peripherin
PRPH2 peripherin 2 (retinal degeneration, slow)
PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13
PTPRC protein tyrosine phosphatase, receptor type, C
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RGS9 regulator of G-protein signaling 9
RP2 retinitis pigmentosa 2 (X-linked recessive)
RPE ribulose-5-phosphate-3-epimerase
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC38A8 solute carrier family 38, member 8
SLC7A14 solute carrier family 7, member 14
SP4 Sp4 transcription factor
SPATA7 spermatogenesis associated 7
SPHK1 sphingosine kinase 1
SYMPK symplekin
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TUB tubby bipartite transcription factor
TUBB4B tubulin, beta 4B class IVb
TULP1 tubby like protein 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
USP45 ubiquitin specific peptidase 45
ZFYVE26 zinc finger, FYVE domain containing 26