fundus dystrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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Genes

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

Symbol Name Standardized Value
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 2.61252
RPE65 retinal pigment epithelium-specific protein 65kDa 2.24577
TIMP3 TIMP metallopeptidase inhibitor 3 2.19244
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 2.17548
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 2.01157
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 1.94501
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 1.90893
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 1.88944
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 1.87883
CEP290 centrosomal protein 290kDa 1.86095
CRX cone-rod homeobox 1.72958
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.71955
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 1.71134
RHO rhodopsin 1.68091
BBS1 Bardet-Biedl syndrome 1 1.6171
AHI1 Abelson helper integration site 1 1.601
MERTK MER proto-oncogene, tyrosine kinase 1.59787
RLBP1 retinaldehyde binding protein 1 1.58894
CDHR1 cadherin-related family member 1 1.57467
LCA5 Leber congenital amaurosis 5 1.55336
SDR9C7 short chain dehydrogenase/reductase family 9C, member 7 1.43244
IFT140 intraflagellar transport 140 1.41884
BBS4 Bardet-Biedl syndrome 4 1.33327
NPHP1 nephronophthisis 1 (juvenile) 1.32803
TULP1 tubby like protein 1 1.27563
CC2D2A coiled-coil and C2 domain containing 2A 1.2717
ROM1 retinal outer segment membrane protein 1 1.25297
CERKL ceramide kinase-like 1.25167
BBS2 Bardet-Biedl syndrome 2 1.25124
BEST1 bestrophin 1 1.2395
ARL6 ADP-ribosylation factor-like 6 1.23126
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 1.21955
DTHD1 death domain containing 1 1.21305
SPATA7 spermatogenesis associated 7 1.20959
GUCA1B guanylate cyclase activator 1B (retina) 1.20266
BBS12 Bardet-Biedl syndrome 12 1.19229
GUCA1A guanylate cyclase activator 1A (retina) 1.18066
MKKS McKusick-Kaufman syndrome 1.1755
BBS5 Bardet-Biedl syndrome 5 1.15794
GRK1 G protein-coupled receptor kinase 1 1.15709
DNAJB12 DnaJ (Hsp40) homolog, subfamily B, member 12 1.15538
RIMS1 regulating synaptic membrane exocytosis 1 1.14857
RPGR retinitis pigmentosa GTPase regulator 1.14772
ZNF674 zinc finger protein 674 1.14136
CNGA3 cyclic nucleotide gated channel alpha 3 1.10678
RDH8 retinol dehydrogenase 8 (all-trans) 1.09713
GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1 1.09125
NR2E3 nuclear receptor subfamily 2, group E, member 3 1.04798
CRB2 crumbs family member 2 1.0303
BBS10 Bardet-Biedl syndrome 10 1.01976
MFRP membrane frizzled-related protein 1.01427
IMPG1 interphotoreceptor matrix proteoglycan 1 1.01174
CNGB3 cyclic nucleotide gated channel beta 3 1.00794
RGR retinal G protein coupled receptor 1.00794
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 1.00288
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 0.988535
SMAP1 small ArfGAP 1 0.986428
FAM127A family with sequence similarity 127, member A 0.98011
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 0.978426
OPN4 opsin 4 0.97128
RHD Rh blood group, D antigen 0.948685
ACBD5 acyl-CoA binding domain containing 5 0.941196
ARL13B ADP-ribosylation factor-like 13B 0.936629
F10 coagulation factor X 0.928346
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 0.920498
MCHR2 melanin-concentrating hormone receptor 2 0.918024
GUCA2A guanylate cyclase activator 2A (guanylin) 0.904442
VPS13B vacuolar protein sorting 13 homolog B (yeast) 0.888438
C8ORF37 chromosome 8 open reading frame 37 0.885979
IQCB1 IQ motif containing B1 0.873281
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 0.863046
RPGRIP1L RPGRIP1-like 0.858543
RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) 0.850764
ELOVL4 ELOVL fatty acid elongase 4 0.839296
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 0.824948
PITPNM3 PITPNM family member 3 0.816745
FAM46A family with sequence similarity 46, member A 0.816334
TTC8 tetratricopeptide repeat domain 8 0.808949
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 0.801154
ADGRA3 adhesion G protein-coupled receptor A3 0.795411
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 0.792131
LGSN lengsin, lens protein with glutamine synthetase domain 0.789672
BBS7 Bardet-Biedl syndrome 7 0.782298
RDH10 retinol dehydrogenase 10 (all-trans) 0.780251
TMEM67 transmembrane protein 67 0.779432
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 0.76431
C1QTNF5 C1q and tumor necrosis factor related protein 5 0.750864
GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2 0.744766
EYS eyes shut homolog (Drosophila) 0.743954
GPR75 G protein-coupled receptor 75 0.742329
ABHD2 abhydrolase domain containing 2 0.741111
CRB3 crumbs family member 3 0.724907
ATXN7 ataxin 7 0.720058
NRL neural retina leucine zipper 0.714408
CHST7 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 0.698313
ZNF41 zinc finger protein 41 0.691094
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 0.688291
SUCNR1 succinate receptor 1 0.681495
KIFC3 kinesin family member C3 0.666358
RCVRN recoverin 0.657234
ZNF81 zinc finger protein 81 0.641433
NR2E1 nuclear receptor subfamily 2, group E, member 1 0.637889
C2ORF71 chromosome 2 open reading frame 71 0.637102
OXR1 oxidation resistance 1 0.629635
NCOA2 nuclear receptor coactivator 2 0.628457
PRPH2 peripherin 2 (retinal degeneration, slow) 0.628065
MCOLN1 mucolipin 1 0.626495
RBP3 retinol binding protein 3, interstitial 0.624535
NPR1 natriuretic peptide receptor 1 0.619051
GUCY2C guanylate cyclase 2C 0.617877
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 0.614747
TIMP1 TIMP metallopeptidase inhibitor 1 0.612011
VSX2 visual system homeobox 2 0.61162
MT4 metallothionein 4 0.60225
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 0.59874
USH2A Usher syndrome 2A (autosomal recessive, mild) 0.597961
PCDH15 protocadherin-related 15 0.597181
TSEN54 TSEN54 tRNA splicing endonuclease subunit 0.593674
RS1 retinoschisin 1 0.591727
CABP4 calcium binding protein 4 0.591337
LAMA1 laminin, alpha 1 0.588612
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 0.586665
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 0.582384
PNPT1 polyribonucleotide nucleotidyltransferase 1 0.572662
TMEM216 transmembrane protein 216 0.564889
PLA2G5 phospholipase A2, group V 0.557897
CDH23 cadherin-related 23 0.556344
PID1 phosphotyrosine interaction domain containing 1 0.554403
ZNF222 zinc finger protein 222 0.547419
DES desmin 0.529608
ELOVL5 ELOVL fatty acid elongase 5 0.526904
APLN apelin 0.524974
ALMS1 Alstrom syndrome protein 1 0.523045
SDCCAG8 serologically defined colon cancer antigen 8 0.520346
OTX2 orthodenticle homeobox 2 0.519961
TUSC3 tumor suppressor candidate 3 0.51534
RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 0.507273
ARL3 ADP-ribosylation factor-like 3 0.501527
BBS9 Bardet-Biedl syndrome 9 0.488549
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 0.486646
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 0.485885
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 0.480186
SRSF5 serine/arginine-rich splicing factor 5 0.472982
CNTF ciliary neurotrophic factor 0.470711
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 0.469954
CHM choroideremia (Rab escort protein 1) 0.450324
GLUL glutamate-ammonia ligase 0.446935
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.445052
OTX1 orthodenticle homeobox 1 0.43753
RP9 retinitis pigmentosa 9 (autosomal dominant) 0.43753
GSS glutathione synthetase 0.428891
KIAA1549 KIAA1549 0.425514
MKS1 Meckel syndrome, type 1 0.42364
MPP5 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 0.420266
C21ORF2 chromosome 21 open reading frame 2 0.408666
MAN2B1 mannosidase, alpha, class 2B, member 1 0.393001
CNTFR ciliary neurotrophic factor receptor 0.391513
GFAP glial fibrillary acidic protein 0.390397
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1 0.383337
INPP5A inositol polyphosphate-5-phosphatase, 40kDa 0.379256
MCHR1 melanin-concentrating hormone receptor 1 0.378143
CRYAA crystallin, alpha A 0.377402
FGF2 fibroblast growth factor 2 (basic) 0.375179
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 0.360764
SAG S-antigen; retina and pineal gland (arrestin) 0.360026
PAX6 paired box 6 0.358551
CLN3 ceroid-lipofuscinosis, neuronal 3 0.355235
FRMD6 FERM domain containing 6 0.348614
PLIN2 perilipin 2 0.345308
OSTM1 osteopetrosis associated transmembrane protein 1 0.343473
PRCD progressive rod-cone degeneration 0.33066
SKP1 S-phase kinase-associated protein 1 0.328105
GJD2 gap junction protein, delta 2, 36kDa 0.325916
TIMP2 TIMP metallopeptidase inhibitor 2 0.323365
SPTBN1 spectrin, beta, non-erythrocytic 1 0.319726
RD3 retinal degeneration 3 0.301976
UBR1 ubiquitin protein ligase E3 component n-recognin 1 0.299452
SFRP1 secreted frizzled-related protein 1 0.296931
BDNF brain-derived neurotrophic factor 0.294053
RBP4 retinol binding protein 4, plasma 0.286519
TUB tubby bipartite transcription factor 0.275801
NPHP4 nephronophthisis 4 0.273664
GJC1 gap junction protein, gamma 1, 45kDa 0.27153
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha 0.271174
CNTLN centlein, centrosomal protein 0.270464
FBLN1 fibulin 1 0.266558
NTF3 neurotrophin 3 0.256299
ACPP acid phosphatase, prostate 0.253479
HEPH hephaestin 0.251718
MMP2 matrix metallopeptidase 2 0.241546
POU4F1 POU class 4 homeobox 1 0.240847
TMTC1 transmembrane and tetratricopeptide repeat containing 1 0.240148
RFX1 regulatory factor X, 1 (influences HLA class II expression) 0.239101
NYX nyctalopin 0.237009
CX3CR1 chemokine (C-X3-C motif) receptor 1 0.231448
TSPO translocator protein (18kDa) 0.230409
ECM1 extracellular matrix protein 1 0.22454
SFRP5 secreted frizzled-related protein 5 0.217012
CDX1 caudal type homeobox 1 0.217012
ATN1 atrophin 1 0.206913
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 0.202618
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 0.201635
PSIP1 PC4 and SFRS1 interacting protein 1 0.192971
RBP1 retinol binding protein 1, cellular 0.189244
RAB8A RAB8A, member RAS oncogene family 0.189244
USH1C Usher syndrome 1C (autosomal recessive, severe) 0.185313
ISG20 interferon stimulated exonuclease gene 20kDa 0.181798
NRTN neurturin 0.175679
FGF1 fibroblast growth factor 1 (acidic) 0.174881
CCNA1 cyclin A1 0.169571
COL11A1 collagen, type XI, alpha 1 0.167915
ADAM9 ADAM metallopeptidase domain 9 0.167682
PROM1 prominin 1 0.164359
APLNR apelin receptor 0.164149
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 0.162109
HMX1 H6 family homeobox 1 0.157602
COL2A1 collagen, type II, alpha 1 0.145103
CKM creatine kinase, muscle 0.144009
CASP2 caspase 2, apoptosis-related cysteine peptidase 0.143908
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 0.143816