cone-rod dystrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness. (Human Disease Ontology, DOID_0050572)
Similar Terms
Downloads & Tools

Genes

135 genes co-occuring with the disease cone-rod dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 2.48688
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 2.44238
CRX cone-rod homeobox 2.37267
GUCA1A guanylate cyclase activator 1A (retina) 2.24098
RIMS1 regulating synaptic membrane exocytosis 1 2.17022
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 1.96286
GUCA1B guanylate cyclase activator 1B (retina) 1.95629
RPGR retinitis pigmentosa GTPase regulator 1.92904
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 1.91874
GUCA2A guanylate cyclase activator 2A (guanylin) 1.7623
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 1.71499
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 1.69315
C8ORF37 chromosome 8 open reading frame 37 1.66825
CERKL ceramide kinase-like 1.6606
POC1B POC1 centriolar protein B 1.64487
NPR1 natriuretic peptide receptor 1 1.635
GUCY2C guanylate cyclase 2C 1.63366
UNC119 unc-119 homolog (C. elegans) 1.6077
ALMS1 Alstrom syndrome protein 1 1.46803
CDHR1 cadherin-related family member 1 1.44298
TULP1 tubby like protein 1 1.43025
ATXN7 ataxin 7 1.36902
DNAJB12 DnaJ (Hsp40) homolog, subfamily B, member 12 1.32847
PRPH2 peripherin 2 (retinal degeneration, slow) 1.31013
ADAM9 ADAM metallopeptidase domain 9 1.30314
KLHL23 kelch-like family member 23 1.2992
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 1.28523
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 1.26298
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 1.26124
RPE65 retinal pigment epithelium-specific protein 65kDa 1.19186
CNGB3 cyclic nucleotide gated channel beta 3 1.16649
CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 1.16521
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 1.15368
EYS eyes shut homolog (Drosophila) 1.13585
RHO rhodopsin 1.11561
ARL2 ADP-ribosylation factor-like 2 1.09923
ROM1 retinal outer segment membrane protein 1 1.06312
NPHP4 nephronophthisis 4 1.03325
NRL neural retina leucine zipper 1.0109
ELOVL4 ELOVL fatty acid elongase 4 0.997814
PCYT1A phosphate cytidylyltransferase 1, choline, alpha 0.99697
GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 0.976744
CERK ceramide kinase 0.975903
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 0.97044
PITPNM3 PITPNM family member 3 0.962053
LCA5 Leber congenital amaurosis 5 0.954525
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 0.946603
RIMS2 regulating synaptic membrane exocytosis 2 0.920085
BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 0.904442
RAB28 RAB28, member RAS oncogene family 0.879014
PLIN2 perilipin 2 0.866731
CEP290 centrosomal protein 290kDa 0.865502
GUCY2F guanylate cyclase 2F, retinal 0.857724
GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1 0.857724
DUSP26 dual specificity phosphatase 26 (putative) 0.857724
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 0.844211
RAB3A RAB3A, member RAS oncogene family 0.80977
FAM161A family with sequence similarity 161, member A 0.783936
C2ORF71 chromosome 2 open reading frame 71 0.779023
RD3 retinal degeneration 3 0.77207
IMPG1 interphotoreceptor matrix proteoglycan 1 0.762271
COG6 component of oligomeric golgi complex 6 0.759008
DFNB59 deafness, autosomal recessive 59 0.742329
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 0.739082
USH2A Usher syndrome 2A (autosomal recessive, mild) 0.738676
CABP4 calcium binding protein 4 0.731381
CNGA3 cyclic nucleotide gated channel alpha 3 0.721673
SPATA7 spermatogenesis associated 7 0.712392
WDR19 WD repeat domain 19 0.709572
MYO5B myosin VB 0.6939
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 0.693499
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 0.691094
RPS3 ribosomal protein S3 0.669538
KIN Kin17 DNA and RNA binding protein 0.662784
PROM1 prominin 1 0.651298
RDH8 retinol dehydrogenase 8 (all-trans) 0.642615
ARL3 ADP-ribosylation factor-like 3 0.63907
MNX1 motor neuron and pancreas homeobox 1 0.630813
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 0.622575
GYLTL1B glycosyltransferase-like 1B 0.613574
RBP3 retinol binding protein 3, interstitial 0.607323
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 0.606543
PRNT prion protein (testis specific) 0.60264
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 0.585108
BBS5 Bardet-Biedl syndrome 5 0.521117
C1QTNF5 C1q and tumor necrosis factor related protein 5 0.512648
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 0.497321
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1 0.482464
OFD1 oral-facial-digital syndrome 1 0.481325
DUSP3 dual specificity phosphatase 3 0.479807
TIMP3 TIMP metallopeptidase inhibitor 3 0.477151
FSCN2 fascin actin-bundling protein 2, retinal 0.472604
SLC25A18 solute carrier family 25 (glutamate carrier), member 18 0.472225
OTOF otoferlin 0.460506
SKP1 S-phase kinase-associated protein 1 0.459373
PABPC1 poly(A) binding protein, cytoplasmic 1 0.427765
SYT1 synaptotagmin I 0.403064
AHI1 Abelson helper integration site 1 0.40008
GRK1 G protein-coupled receptor kinase 1 0.390025
HESX1 HESX homeobox 1 0.385193
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 0.385193
BACE1 beta-site APP-cleaving enzyme 1 0.37629
SIGLEC10 sialic acid binding Ig-like lectin 10 0.372217
TUB tubby bipartite transcription factor 0.371847
LCK LCK proto-oncogene, Src family tyrosine kinase 0.365932
OMD osteomodulin 0.361502
MKKS McKusick-Kaufman syndrome 0.348246
NEUROD1 neuronal differentiation 1 0.347511
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 0.305587
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 0.305226
NR2E3 nuclear receptor subfamily 2, group E, member 3 0.301976
CRABP2 cellular retinoic acid binding protein 2 0.300533
RLBP1 retinaldehyde binding protein 1 0.295132
DLL1 delta-like 1 (Drosophila) 0.283655
MERTK MER proto-oncogene, tyrosine kinase 0.272241
SP4 Sp4 transcription factor 0.270108
ENAM enamelin 0.266558
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 0.262306
NPHP1 nephronophthisis 1 (juvenile) 0.251718
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 0.251366
GPR162 G protein-coupled receptor 162 0.245396
BANF1 barrier to autointegration factor 1 0.231795
RCVRN recoverin 0.22145
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2 0.220424
SALL4 spalt-like transcription factor 4 0.207912
HMOX2 heme oxygenase 2 0.202618
ACTN4 actinin, alpha 4 0.200331
AMELY amelogenin, Y-linked 0.199681
PITX2 paired-like homeodomain 2 0.19742
MSX2 msh homeobox 2 0.18621
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.179239
NPTX2 neuronal pentraxin II 0.175679
AMELX amelogenin, X-linked 0.175146
CLN3 ceroid-lipofuscinosis, neuronal 3 0.165655
BEST1 bestrophin 1 0.157929