leber congenital amaurosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
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)
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Genes

154 genes co-occuring with the disease leber congenital amaurosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
RPE65 retinal pigment epithelium-specific protein 65kDa 3.17403
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 2.90508
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 2.87507
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 2.83727
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 2.62156
CRX cone-rod homeobox 2.47526
CEP290 centrosomal protein 290kDa 2.37628
LCA5 Leber congenital amaurosis 5 2.3231
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 2.305
TULP1 tubby like protein 1 2.0047
CRB2 crumbs family member 2 1.98156
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 1.75596
NUB1 negative regulator of ubiquitin-like proteins 1 1.70042
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 1.67006
RPGR retinitis pigmentosa GTPase regulator 1.63814
NPR1 natriuretic peptide receptor 1 1.60949
GUCY2C guanylate cyclase 2C 1.60815
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.53128
CRB3 crumbs family member 3 1.5238
SPATA7 spermatogenesis associated 7 1.51984
MPP5 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 1.51501
GUCY2F guanylate cyclase 2F, retinal 1.5115
IQCB1 IQ motif containing B1 1.50535
GUCA1B guanylate cyclase activator 1B (retina) 1.4733
RHO rhodopsin 1.46759
RD3 retinal degeneration 3 1.43947
GRK1 G protein-coupled receptor kinase 1 1.39957
NRL neural retina leucine zipper 1.3869
MPDZ multiple PDZ domain protein 1.38472
CNTLN centlein, centrosomal protein 1.3193
MERTK MER proto-oncogene, tyrosine kinase 1.29265
ZNF558 zinc finger protein 558 1.24254
GLB1L3 galactosidase, beta 1-like 3 1.18884
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 1.18281
GLB1L galactosidase, beta 1-like 1.16606
EYS eyes shut homolog (Drosophila) 1.11856
CNGA3 cyclic nucleotide gated channel alpha 3 1.09881
GUCA1A guanylate cyclase activator 1A (retina) 1.08579
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 1.07152
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 1.06018
GLB1L2 galactosidase, beta 1-like 2 1.05639
NR2E3 nuclear receptor subfamily 2, group E, member 3 1.03282
RPGRIP1L RPGRIP1-like 1.02903
TRIM61 tripartite motif containing 61 1.02482
NPHP4 nephronophthisis 4 1.02229
LIN7A lin-7 homolog A (C. elegans) 1.01891
CDHR1 cadherin-related family member 1 1.00794
IMPG1 interphotoreceptor matrix proteoglycan 1 1.00752
SDR9C7 short chain dehydrogenase/reductase family 9C, member 7 0.997814
USH2A Usher syndrome 2A (autosomal recessive, mild) 0.994861
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 0.981794
RGR retinal G protein coupled receptor 0.965825
UBA6 ubiquitin-like modifier activating enzyme 6 0.933313
OPN1SW opsin 1 (cone pigments), short-wave-sensitive 0.918848
NPHP3 nephronophthisis 3 (adolescent) 0.917199
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 0.915139
INADL InaD-like (Drosophila) 0.904032
SDCCAG8 serologically defined colon cancer antigen 8 0.899924
RBP7 retinol binding protein 7, cellular 0.879014
RDH13 retinol dehydrogenase 13 (all-trans/9-cis) 0.876966
OTX2 orthodenticle homeobox 2 0.872053
CNGB3 cyclic nucleotide gated channel beta 3 0.84544
PRPH2 peripherin 2 (retinal degeneration, slow) 0.844621
AHI1 Abelson helper integration site 1 0.835607
NPHP1 nephronophthisis 1 (juvenile) 0.831508
POC1B POC1 centriolar protein B 0.830279
RDH8 retinol dehydrogenase 8 (all-trans) 0.828639
C8ORF37 chromosome 8 open reading frame 37 0.826999
RCVRN recoverin 0.814283
ARR3 arrestin 3, retinal (X-arrestin) 0.799513
MKS1 Meckel syndrome, type 1 0.776568
IMPG2 interphotoreceptor matrix proteoglycan 2 0.769618
DNAJB12 DnaJ (Hsp40) homolog, subfamily B, member 12 0.735433
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2 0.733406
IFT140 intraflagellar transport 140 0.729762
NINL ninein-like 0.724502
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 0.685091
NXNL1 nucleoredoxin-like 1 0.681894
NEK4 NIMA-related kinase 4 0.669538
LIN7C lin-7 homolog C (C. elegans) 0.661197
RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) 0.661197
TST thiosulfate sulfurtransferase (rhodanese) 0.654463
PI15 peptidase inhibitor 15 0.63042
CABP4 calcium binding protein 4 0.604591
ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 0.595233
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 0.594454
MFRP membrane frizzled-related protein 0.592895
C2ORF71 chromosome 2 open reading frame 71 0.580828
MYO7A myosin VIIA 0.569163
PLIN2 perilipin 2 0.558674
LPCAT1 lysophosphatidylcholine acyltransferase 1 0.551298
WDR19 WD repeat domain 19 0.548971
OPN4 opsin 4 0.544705
TMEM216 transmembrane protein 216 0.54393
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 0.542767
MKKS McKusick-Kaufman syndrome 0.538506
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 0.528449
ROM1 retinal outer segment membrane protein 1 0.52729
VSX1 visual system homeobox 1 0.522273
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 0.509959
KIN Kin17 DNA and RNA binding protein 0.503824
RLBP1 retinaldehyde binding protein 1 0.499231
RGPD3 RANBP2-like and GRIP domain containing 3 0.484744
MNX1 motor neuron and pancreas homeobox 1 0.472982
CNGB1 cyclic nucleotide gated channel beta 1 0.470711
CETN2 centrin, EF-hand protein, 2 0.470332
RIMS1 regulating synaptic membrane exocytosis 1 0.46655
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 0.461639
PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 0.44129
CERKL ceramide kinase-like 0.431519
PTTG1 pituitary tumor-transforming 1 0.412405
TMEM67 transmembrane protein 67 0.385193
STRA6 stimulated by retinoic acid 6 0.37629
NNAT neuronatin 0.36741
PEX1 peroxisomal biogenesis factor 1 0.364824
CRYAA crystallin, alpha A 0.357077
GDF6 growth differentiation factor 6 0.356341
UBD ubiquitin D 0.344574
PRCD progressive rod-cone degeneration 0.343473
RANBP2 RAN binding protein 2 0.342739
CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C) 0.330295
FSCN2 fascin actin-bundling protein 2, retinal 0.320817
SLC25A18 solute carrier family 25 (glutamate carrier), member 18 0.320454
BEST1 bestrophin 1 0.304142
OFD1 oral-facial-digital syndrome 1 0.296931
TUB tubby bipartite transcription factor 0.256299
UBR1 ubiquitin protein ligase E3 component n-recognin 1 0.248203
ELOVL4 ELOVL fatty acid elongase 4 0.246098
RHD Rh blood group, D antigen 0.243295
HESX1 HESX homeobox 1 0.237706
PRPF31 pre-mRNA processing factor 31 0.231102
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 0.223509
PDE4B phosphodiesterase 4B, cAMP-specific 0.222479
TMTC1 transmembrane and tetratricopeptide repeat containing 1 0.221108
NYX nyctalopin 0.218374
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 0.214297
MYEF2 myelin expression factor 2 0.197099
HIST3H2BB histone cluster 3, H2bb 0.192031
KCNJ12 potassium channel, inwardly rectifying subfamily J, member 12 0.190786
HIST2H2BF histone cluster 2, H2bf 0.190476
HIST1H2BA histone cluster 1, H2ba 0.188632
HIST1H2BH histone cluster 1, H2bh 0.188326
HIST1H2BD histone cluster 1, H2bd 0.188326
ALMS1 Alstrom syndrome protein 1 0.188022
BCO1 beta-carotene oxygenase 1 0.187415
HIST1H2BF histone cluster 1, H2bf 0.177029
HIST1H2BC histone cluster 1, H2bc 0.177029
BBS4 Bardet-Biedl syndrome 4 0.175411
CDH23 cadherin-related 23 0.174093
RBP1 retinol binding protein 1, cellular 0.173571
PAX6 paired box 6 0.165655
ERG v-ets avian erythroblastosis virus E26 oncogene homolog 0.165217
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13 0.164786
RDH10 retinol dehydrogenase 10 (all-trans) 0.164359