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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:retinal vascular disease
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Accession:DOID:2462 term browser browse the term
Synonyms:exact_synonym: retina circulation disorder
 primary_id: RDO:9002921
 xref: NCI:C35170
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
background diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin treatment ISO RGD PMID:10848441 RGD:10046010 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Cat catalase ISO associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: RGD PMID:24092995 RGD:9068931 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:decreased expression:aqueous humor: RGD PMID:23853629 RGD:10402120 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:decreased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
central retinal vein occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:20688738 RGD:11100028 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:28492532 PMID:29228254 PMID:29481669 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2
ClinVar
OMIM
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr 1:163,443,972...163,457,426
Ensembl chr 1:163,445,527...163,457,424
JBrowse link
Coats disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Coats disease ClinVar PMID:26908610 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:30459466 NCBI chr18:31,415,533...31,431,108
Ensembl chr18:31,414,250...31,430,973
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Coats disease
ClinVar Annotator: match by term: Exudative retinopathy
ClinVar PMID:26908610 PMID:28492532 PMID:31494449 NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human)
associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human)
associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human)
GAD
RGD
PMID:15118671, PMID:2157294, PMID:23065222, PMID:7729604, PMID:11106834 RGD:1331525, RGD:8142360, RGD:7829794, RGD:7829780, RGD:7829783 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 treatment ISO associated with Diabetes Mellitus, Experimental
human gene in a mouse model
CTD Direct Evidence: therapeutic
CTD PMID:31380462, PMID:21792177, PMID:31380462 RGD:8548900, RGD:40818278 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12495297 RGD:2313184 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
RGD PMID:24655058, PMID:17970779 RGD:8694412, RGD:8694475 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adm adrenomedullin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:19216096 RGD:2313312 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:9313761 RGD:5684400 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Ager advanced glycosylation end product-specific receptor no_association
treatment
severity
susceptibility
ISO
IDA
IEP
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human)
associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human)
protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat)
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human)
associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
GAD
RGD
PMID:15118671, PMID:22427038, PMID:22171162, PMID:22116960, PMID:11375354, PMID:14704946, PMID:16969646, PMID:16969646, PMID:23146804, PMID:23587252, PMID:22475522, PMID:19542745, PMID:23091285 RGD:1331525, RGD:8695983, RGD:8695979, RGD:8695967, RGD:8695966, RGD:8695965, RGD:8695958, RGD:8695958, RGD:7244369, RGD:7244248, RGD:7244176, RGD:7244175, RGD:7244174 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen treatment ISO
IMP
associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental
CTD PMID:15387897, PMID:10862638, PMID:21792177 RGD:8548872, RGD:8548900 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16601577 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B no_association
susceptibility
IDA
IEP
ISO
associated with Diabetes Mellitus, Experimental
protein:increased expression:retinal astrocyte (rat)
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human)
associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human)
RGD PMID:17003340, PMID:8150024, PMID:21067572, PMID:16701918, PMID:19587357 RGD:1626080, RGD:8548684, RGD:8548676, RGD:8548668, RGD:8548640 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Akt1 AKT serine/threonine kinase 1 IEP mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Ang angiogenin ISO associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Angpt1 angiopoietin 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:12000720 RGD:2313818 NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
JBrowse link
G Angpt2 angiopoietin 2 IEP
IDA
protein:increased expression:retina (rat) RGD PMID:16520919, PMID:16520919 RGD:2314216, RGD:2314216 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:11522499 RGD:2313826 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Apob apolipoprotein B ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19448981 RGD:2313976 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc3 apolipoprotein C3 severity ISO protein:increased expression:serum RGD PMID:15642486 RGD:2306768 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E susceptibility
no_association
ISO associated with Diabetic Mellitus type 2;DNA:polymorphism:exon: RGD PMID:16862278, PMID:11495633 RGD:7771557, RGD:7771553 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Apoh apolipoprotein H ISO protein:increased expression:vitreous humor RGD PMID:18695102 RGD:2313982 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
JBrowse link
G Aqp4 aquaporin 4 IMP RGD PMID:22449442 RGD:8695996 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Bdkrb1 bradykinin receptor B1 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:18311190 RGD:2313334 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: RGD PMID:15331553 RGD:8655657 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Casp3 caspase 3 IEP
ISO
associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD PMID:20654064, PMID:19187597, PMID:19013511 RGD:2311444, RGD:2311448 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina RGD PMID:18369072 RGD:2311244 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cat catalase IEP protein:decreased expression:retina RGD PMID:21314438 RGD:5130875 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina (rat) RGD PMID:23010641 RGD:8548887 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 severity ISO protein:increased expression:serum
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
RGD PMID:16249511, PMID:18978347 RGD:2307104, RGD:2307061 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccn2 cellular communication network factor 2 IEP associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) RGD PMID:19450451 RGD:2314507 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO associated with Diabetes Mellitus, Experimental RGD PMID:22677420 RGD:8551828 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd34 CD34 molecule IEP mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr13:113,691,842...113,711,259
Ensembl chr13:113,691,932...113,711,647
JBrowse link
G Cd59 CD59 molecule IEP protein:decreased expression:retina RGD PMID:12453906 RGD:1600487 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Cfb complement factor B no_association ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human)
RGD PMID:23864767, PMID:23864767 RGD:7365019, RGD:7365019 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H ISO associated with Diabetes Mellitus, Type 2; DNA:SNP: :rs800292(human)
associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human)
RGD PMID:23864767, PMID:23296223 RGD:7365019, RGD:7365023 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cldn1 claudin 1 treatment IEP RGD PMID:25685822 RGD:11341734 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Clu clusterin treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19875648 RGD:9068395 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD PMID:20012460, PMID:20012460 RGD:8547537 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:17194635 RGD:2311361 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 severity ISO protein:increased expression:vitreous humor RGD PMID:15630447 RGD:2306559 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Cyba cytochrome b-245 alpha chain IEP associated with Diabetes Mellitus, Experimental RGD PMID:19685553 RGD:2317854 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Edn1 endothelin 1 ISO
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human)
mRNA:increased expression:retina (rat)
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma
RGD PMID:18806884, PMID:20628425, PMID:19293263 RGD:2313281, RGD:9068929, RGD:2313279 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egfr epidermal growth factor receptor treatment ISO protein:increased expression:retina
associated with Diabetes Mellitus, Experimental
RGD PMID:7947554, PMID:23831329 RGD:1580957, RGD:10059675 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eln elastin ISO RGD PMID:11707314 RGD:9585734 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Eng endoglin ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body RGD PMID:16202216 RGD:1580961 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Ep300 E1A binding protein p300 IMP associated with Diabetes Mellitus, Experimental RGD PMID:21885871 RGD:7349382 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epo erythropoietin susceptibility ISO protein:increased expression:serum,vitreous body
associated with Diabetes Mellitus, Experimental
DNA:snp:promoter:-1125T>G(rs1617640)(human)
RGD PMID:18670462, PMID:24508793, PMID:18235022, PMID:18458324 RGD:2313837, RGD:10400906, RGD:2313890, RGD:2313838 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:aqueous humor,serum RGD PMID:12417540 RGD:2313865 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:10837382 RGD:2312398 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO
IEP
associated with Pregnancy in Diabetics
DNA:polymorphism:intron:g.754C>G(human)
DNA:polymorphism:promotor:g.-553T>A(human)
associated with Diabetes Mellitus, Experimental
RGD PMID:9141532, PMID:17997184, PMID:18279437, PMID:14975211 RGD:2315885, RGD:2315845, RGD:2315844, RGD:2315875 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment ISO
IEP
RGD PMID:17143550, PMID:18174522 RGD:2313721, RGD:10402119 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Fuca1 alpha-L-fucosidase 1 IEP associated with Diabetes Mellitus, Experimental;protein:increased activity:retina RGD PMID:10353622 RGD:2315932 NCBI chr 5:154,269,296...154,286,545
Ensembl chr 5:154,269,118...154,286,544
JBrowse link
G Gad2 glutamate decarboxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21412422 NCBI chr17:89,171,576...89,234,770
Ensembl chr17:89,171,250...89,238,040
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IEP associated with Diabetes Mellitus, Experimental RGD PMID:18852331 RGD:2315975 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:vitreous body RGD PMID:16080911 RGD:2315548 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum RGD PMID:11311965 RGD:2315614 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gh1 growth hormone 1 ISO RGD PMID:3183302 RGD:2315688 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Glo1 glyoxalase 1 no_association ISO DNA:SNP:promoter:-7C>T (human) RGD PMID:21738003, PMID:21738003 RGD:7242569, RGD:7242569 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human) RGD PMID:19752172 RGD:7495818 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 disease_progression
no_association
ISO associated with Diabetes Mellitus, Type 2;DNA:deletion:cds (human)
associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human)
RGD PMID:15927971, PMID:19752172 RGD:2306630, RGD:7495818 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hfe homeostatic iron regulator ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15347835 RGD:8694362 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum RGD PMID:18335393, PMID:15525877 RGD:2313565, RGD:8548539 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha severity
treatment
ISO
IDA
IEP
protein:increased expression:retina, vascular endothelial cell (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat)
RGD PMID:17229797, PMID:20515763, PMID:22110070 RGD:8694462, RGD:8696025, RGD:7364887 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hras HRas proto-oncogene, GTPase IDA RGD PMID:14988264 RGD:1358731 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO
IEP
CTD Direct Evidence: therapeutic
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human)
CTD PMID:10485912, PMID:18834676, PMID:25066112, PMID:18942221 RGD:2313472, RGD:11354984, RGD:2313471 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:decreased expression:serum RGD PMID:16873705, PMID:17194636 RGD:1598424, RGD:2313764 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor disease_progression IEP mRNA:increased expression:retina: RGD PMID:12781065 RGD:10046008 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
associated with Diabetes Mellitus, Type 2
RGD PMID:18978347, PMID:22105495, PMID:18988929, PMID:16696964 RGD:2307061, RGD:7364856, RGD:2307272, RGD:1598486 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:19011009, PMID:16260350 RGD:4889417, RGD:8655907 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor
protein:increased expression:serum, vitreous humour
RGD PMID:18978347, PMID:16284605 RGD:2307061, RGD:7401212 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 susceptibility ISO associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human)
associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human)
associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum:
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
RGD PMID:19140096, PMID:19542902, PMID:17725274, PMID:18988929 RGD:2307267, RGD:7829816, RGD:7829749, RGD:2307272 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30463601, PMID:22046295 RGD:6902909 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Itga2 integrin subunit alpha 2 severity
no_association
susceptibility
ISO associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human)
RGD PMID:12540964, PMID:21632096, PMID:18806884, PMID:23776381 RGD:2307419, RGD:8686431, RGD:2313281, RGD:7777103 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga4 integrin subunit alpha 4 treatment IMP associated with Diabetes Mellitus, Experimental RGD PMID:19553613 RGD:9698417 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Itgb3 integrin subunit beta 3 ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 treatment IDA
IEP
associated with Diabetes Mellitus, Experimental RGD PMID:21672350, PMID:22143324 RGD:8662869, RGD:8662907 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kdm1a lysine demethylase 1A IEP
ISO
mRNA, protein:increased expression:retina (rat)
mRNA:increased expression:retina (human)
RGD PMID:23423566, PMID:23423566, PMID:23423566 RGD:8547881, RGD:8547881, RGD:8547881 NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina RGD PMID:23633659 RGD:10412733 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Lta lymphotoxin alpha no_association
susceptibility
ISO associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human) RGD PMID:16979413, PMID:11399938 RGD:8548772, RGD:8548797 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mfn2 mitofusin 2 IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat) RGD PMID:28487236 RGD:12910715 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mir21 microRNA 21 IEP RNA:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:12714657, PMID:18552985 RGD:1582582, RGD:8547849 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2
RGD PMID:16643893, PMID:21933988, PMID:10374894 RGD:1582616, RGD:8547857, RGD:8547815 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) RGD PMID:9040583 RGD:6893525 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mysm1 myb-like, SWIRM and MPN domains 1 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:snps:introns: IVS1-1269C>T, IVS6+1700G>A (rs2811893, rs12092121) (human) RGD PMID:21310492 RGD:9589162 NCBI chr 5:113,902,115...113,939,083
Ensembl chr 5:113,906,803...113,939,127
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 IDA associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina RGD PMID:23633659 RGD:10412733 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum RGD PMID:18282491 RGD:7242804 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nos1 nitric oxide synthase 1 IEP mRNA, protein:decreased expression:retina RGD PMID:17545029 RGD:1642141 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos3 nitric oxide synthase 3 no_association
susceptibility
treatment
severity
onset
ISO
IDA
IEP
associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human)
associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina (rat)
DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human)
associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human)
RGD PMID:16581274, PMID:23776381, PMID:22017289, PMID:17558849, PMID:18840783, PMID:23059402, PMID:20435587, PMID:15890549, PMID:17973941, PMID:11918626 RGD:7421531, RGD:7777103, RGD:7777101, RGD:7775042, RGD:7771606, RGD:7771569, RGD:7771568, RGD:7771565, RGD:7421533, RGD:7421532 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppa natriuretic peptide A ISO protein:increased expression:vitreous humor RGD PMID:15273657 RGD:2313589 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Npr3 natriuretic peptide receptor 3 IEP mRNA:decreased expression:retina (rat) RGD PMID:15789000 RGD:1580773 NCBI chr 2:61,883,946...61,950,291
Ensembl chr 2:61,888,950...61,949,926
JBrowse link
G Nutf2 nuclear transport factor 2 treatment ISO
IDA
mRNA:decreased expression:peripheral blood: RGD PMID:19404486, PMID:19404486 RGD:9831377, RGD:9831377 NCBI chr19:37,830,917...37,852,192
Ensembl chr19:37,830,917...37,852,189
JBrowse link
G Ocln occludin treatment IEP RGD PMID:25685822 RGD:11341734 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
JBrowse link
G Pgf placental growth factor IEP associated with Diabetes Mellitus, Type 2 RGD PMID:21408222 RGD:6483775 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma IEP mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:polymorphism:promoter:g.-907C>G (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human)
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)
associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human)
CTD PMID:9661650 PMID:20012460, PMID:16949520, PMID:24100645, PMID:15270786, PMID:20012460 RGD:2313272, RGD:8547572, RGD:8547548, RGD:8547537 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO Retinal Leukostasis;associated with Diabetes Mellitus, Experimental RGD PMID:17003451 RGD:8552824 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IDA
IEP
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) RGD PMID:20566666, PMID:22003111 RGD:6484532, RGD:5686899 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Pten phosphatase and tensin homolog IEP mRNA, protein:decreased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Retn resistin ISO associated with Diabetes Mellitus, Type 2 RGD PMID:17303077 RGD:7207162 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility
severity
ISO associated with Diabetes Mellitus, Type 1;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0501, HLA-DQB1*0504 (human)
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0201, HLA-DQB1*0302 (human)
RGD PMID:19551681, PMID:8932997 RGD:7421552, RGD:7483573 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human) RGD PMID:22981956 RGD:7365095
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO associated with Diabetes Mellitus Type 1;DNA:polymorphism::DRB1*0301,DRB1*0402(human) RGD PMID:23837223 RGD:7365113 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpina4 serpin family A member 4 ISO protein:decreased expression:vitreous fluid (human) RGD PMID:8950506 RGD:1580289 NCBI chr 6:127,743,883...127,753,047
Ensembl chr 6:127,743,971...127,753,046
JBrowse link
G Serpine1 serpin family E member 1 susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)
associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human)
associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human)
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
RGD PMID:23281898, PMID:19419896, PMID:7974340, PMID:9201602, PMID:12660488 RGD:8547697, RGD:8547741, RGD:8547740, RGD:8547710, RGD:8547699 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 severity ISO
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human)
protein:alternative form:vitreous humor
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor
RGD PMID:17658465, PMID:19365032, PMID:18455830, PMID:16054135, PMID:18025835, PMID:15059706 RGD:2312346, RGD:2312337, RGD:2312341, RGD:2312348, RGD:2312344, RGD:1580135 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sgf29 SAGA complex associated factor 29 severity ISO associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human) RGD PMID:21441570 RGD:9587455 NCBI chr 1:198,066,974...198,100,494
Ensembl chr 1:198,067,066...198,100,493
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894401 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sod1 superoxide dismutase 1 ISO human gene in a mouse model
CTD Direct Evidence: therapeutic
CTD PMID:19074809, PMID:19074809 RGD:8655572 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:12663605 RGD:1581298 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
JBrowse link
G Thbs1 thrombospondin 1 IEP
ISO
associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
CTD PMID:17117553, PMID:17117553 RGD:2317943 NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 IEP associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina RGD PMID:22003103 RGD:13463597 NCBI chr12:2,517,006...2,533,707
Ensembl chr12:2,517,006...2,533,706
JBrowse link
G Tlr4 toll-like receptor 4 onset ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.N299G (human) RGD PMID:19135114 RGD:2312487 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor no_association
disease_progression
ISO associated with Diabetes Mellitus, Type 2
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human)
protein:increased expression:serum, vitreous humour
associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet:
RGD PMID:22105495, PMID:16979413, PMID:16284605, PMID:10540181 RGD:7364856, RGD:8548772, RGD:7401212, RGD:7394805 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Uts2 urotensin 2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18338983 RGD:2306795 NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum RGD PMID:19237221 RGD:2312762 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:15899948 RGD:1580363 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO
IEP
mRNA, protein:increased expression:retina
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball:
CTD PMID:11978667 PMID:15788408 PMID:20577866, PMID:17513698, PMID:31759996, PMID:9852717, PMID:16636650 RGD:2301992, RGD:41410819, RGD:8547996, RGD:1580565 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vtn vitronectin ISO
IEP
associated with Diabetes Mellitus, Experimental RGD PMID:7536680, PMID:8804356 RGD:1580818, RGD:10040982 NCBI chr10:65,767,960...65,771,040
Ensembl chr10:65,767,053...65,771,038
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:10077454 RGD:1580648 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Eales Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO DNA:SNP, haplotype:promoter RGD PMID:20720222 RGD:7364860 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:19585364 RGD:7401211 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 susceptibility ISO protein:increased expression:serum:
DNA:polymorphism:promoter:-174G>C(human)
RGD PMID:22025890, PMID:22025890 RGD:7829790, RGD:7829790 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human) RGD PMID:9756436 RGD:7365108
G Tnf tumor necrosis factor disease_progression
severity
ISO DNA:SNP, haplotype:promoter
protein:increased expression:serum:
protein:increased expression:vitreous fluid:
RGD PMID:20720222, PMID:19585364, PMID:21849807, PMID:21394064, PMID:21139707 RGD:7364860, RGD:7401211, RGD:7394772, RGD:7387275, RGD:7387277 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
exudative vitreoretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29207047 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Fzd4 frizzled class receptor 4 ISS
ISO
OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
MouseDO
ClinVar
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8832721 PMID:11719191 PMID:11956231 PMID:15024691 PMID:15824851 PMID:16199547 PMID:16252235 PMID:18602879 PMID:25711638 PMID:28041643 PMID:28492532 PMID:29181528 PMID:29207047 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISS OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 MouseDO NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G Tspan12 tetraspanin 12 ISS
ISO
OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
MouseDO
ClinVar
PMID:25250762 PMID:28041643 NCBI chr 4:48,852,823...48,953,240
Ensembl chr 4:48,852,827...48,928,372
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar NCBI chr 3:80,549,102...80,555,186 JBrowse link
exudative vitreoretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc81 coiled-coil domain containing 81 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:154,064,132...154,111,999
Ensembl chr 1:154,064,256...154,111,725
JBrowse link
G Ccdc83 coiled-coil domain containing 83 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:154,478,426...154,507,075
NCBI chr 1:156,485,039...156,509,513
Ensembl chr 1:154,478,782...154,507,039
JBrowse link
G Ccdc89 coiled-coil domain containing 89 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:154,606,461...154,607,723
Ensembl chr 1:154,606,490...154,607,602
JBrowse link
G Crebzf CREB/ATF bZIP transcription factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:156,290,215...156,296,891
Ensembl chr 1:156,294,519...156,296,161
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:28575650 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Dlg2 discs large MAGUK scaffold protein 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:154,916,274...157,274,077
Ensembl chr 1:156,552,328...157,269,747
JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:154,189,252...154,216,340
Ensembl chr 1:154,189,260...154,216,340
JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
ClinVar Annotator: match by OMIM:133780
ClinVar
OMIM
PMID:12172548 PMID:14507768 PMID:15035989 PMID:15370539 PMID:15488808 PMID:15733276 PMID:15981244 PMID:17955262 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21179236 PMID:21681106 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28166811 PMID:28492532 PMID:30452590 PMID:31294129, PMID:12172548 RGD:1598999 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Hikeshi heat shock protein nuclear import factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:154,147,098...154,170,429
Ensembl chr 1:154,142,836...154,170,409
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
CTD
ClinVar
PMID:25741868 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Me3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:153,861,535...154,058,608
Ensembl chr 1:153,861,569...154,056,654
JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:154,377,229...154,458,966
Ensembl chr 1:154,377,247...154,458,425
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Criswick-Schepens syndrome
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
ClinVar PMID:12172548 PMID:14507768 PMID:15035989 PMID:15488808 PMID:15733276 PMID:15981244 PMID:17955262 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21681106 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28166811 PMID:28492532 PMID:30452590 PMID:31294129 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G Sytl2 synaptotagmin-like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:154,536,592...154,599,515
NCBI chr 1:156,334,298...156,440,327
Ensembl chr 1:154,579,949...154,599,430
Ensembl chr 1:154,579,949...154,599,430
JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:156,283,105...156,291,057
Ensembl chr 1:156,283,128...156,291,052
JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:156,262,220...156,274,207
Ensembl chr 1:156,262,031...156,275,002
JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:152,886,496...153,096,225
Ensembl chr 1:152,886,996...153,096,269
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:23716654 PMID:27316669 PMID:28492532 NCBI chr 3:80,549,102...80,555,186 JBrowse link
exudative vitreoretinopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 4
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive
OMIM
ClinVar
PMID:8832721 PMID:9056564 PMID:9831343 PMID:11719191 PMID:11956231 PMID:14507768 PMID:15024691 PMID:15346351 PMID:15824851 PMID:15981244 PMID:16199547 PMID:16252235 PMID:18602879 PMID:25711638 PMID:25741868 PMID:26244290 PMID:28041643 PMID:28492532 PMID:29181528 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
exudative vitreoretinopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 5
ClinVar Annotator: match by OMIM:613310
OMIM
ClinVar
PMID:15665352 PMID:20159111 PMID:20159112 PMID:21334594 PMID:22427576 PMID:25250762 PMID:25352738 PMID:25741868 PMID:28002565 PMID:28492532 NCBI chr 4:48,852,823...48,953,240
Ensembl chr 4:48,852,827...48,928,372
JBrowse link
exudative vitreoretinopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 ClinVar
OMIM
PMID:6897033 PMID:23716654 PMID:25741868 PMID:29982478 NCBI chr 3:80,549,102...80,555,186 JBrowse link
exudative vitreoretinopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7
ClinVar Annotator: match by term: Exudative vitreoretinopathy 7
ClinVar
OMIM
PMID:25741868 PMID:26350204 PMID:27915094 PMID:28575650 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
Idiopathic Juxtafoveal Retinal Telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 IAGP RGD PMID:25878282 RGD:13451131 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crb1m1 crumbs 1, cell polarity complex component;mutant 1 IAGP RGD PMID:25878282 RGD:13451131
proliferative diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:aqueous humor RGD PMID:22563689 RGD:8694466 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:vitreous humor RGD PMID:16364297 RGD:8695978 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Cat catalase ISO associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: RGD PMID:24092995 RGD:9068931 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:g.-2518A>G (human)
associated with Diabetes Mellitus;protein:increased expression:vitreous humor (human)
RGD PMID:23549806, PMID:21850157 RGD:8548851, RGD:8549477 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 disease_progression ISO protein:decreased expression:vitreous: RGD PMID:22864860 RGD:9685437 NCBI chr 7:94,479,931...94,563,086
Ensembl chr 7:94,480,396...94,563,001
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:vitreous: RGD PMID:22868384 RGD:10402118 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Il6r interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:17401618 RGD:10402814 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma onset
susceptibility
ISO associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human)
DNA:snp:cds:p.P12A (rs1801282) (human)
RGD PMID:18541841, PMID:19125195, PMID:23559865 RGD:2301854, RGD:8699508, RGD:8552820 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Serpine1 serpin family E member 1 susceptibility
disease_progression
ISO associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)
protein:increased expression:plasma (human)
RGD PMID:16416371, PMID:23304115 RGD:8699494, RGD:8699497 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO protein:increased expression:vitreous fluid (human) RGD PMID:11723044, PMID:15059706 RGD:8554895, RGD:1580135 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO DNA:snp:exon:p.P281P (rs2235611) (human) RGD PMID:21309690 RGD:11039452 NCBI chr 3:159,305,345...159,310,668
Ensembl chr 3:159,305,345...159,310,668
JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO mRNA:decreased expression:retina RGD PMID:22003103 RGD:13463597 NCBI chr12:2,517,006...2,533,707
Ensembl chr12:2,517,006...2,533,706
JBrowse link
G Vegfa vascular endothelial growth factor A IDA associated with Diabetes Mellitus, Type 2; protein:increased expression:retina RGD PMID:16054135 RGD:2312348 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfbp7 insulin-like growth factor binding protein 7 ISO ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis OMIM
ClinVar
PMID:12441727 PMID:21835307 NCBI chr14:33,010,300...33,070,193
Ensembl chr14:33,010,300...33,070,190
JBrowse link
retinal artery occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V no_association ISO RGD PMID:12928685 RGD:1580362 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:SNP:promoter:-592C>A (rs1800872) (human) RGD PMID:17438520 RGD:7365056 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 susceptibility ISO DNA:polymorphism>promoter:-174G>C(human) RGD PMID:15604420, PMID:19421412 RGD:7829798, RGD:7829809 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:19421412 RGD:7829809 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
retinal ischemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IEP RGD PMID:23537149 RGD:10755711 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23537149 RGD:10755711 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:23537149 RGD:10755711 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Ngb neuroglobin IEP associated with Ocular Hypertension;protein:increased expression:retina RGD PMID:22553688 RGD:9854634 NCBI chr 6:111,126,259...111,131,699
Ensembl chr 6:111,126,261...111,132,320
JBrowse link
G Ptger4 prostaglandin E receptor 4 IEP protein:decreased expression:retina (rat) RGD PMID:12821538 RGD:9850261 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Thy1 Thy-1 cell surface antigen treatment IEP RGD PMID:23537149 RGD:10755711 NCBI chr 8:48,382,121...48,387,271
Ensembl chr 8:48,382,121...48,386,935
JBrowse link
G Vegfa vascular endothelial growth factor A treatment IEP RGD PMID:23537149 RGD:10755711 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
retinal telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11389483 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression,increased phosphorylation:eye: RGD PMID:23221067 RGD:8549759 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Vegfa vascular endothelial growth factor A severity ISO protein:increased expression:eye: RGD PMID:23221067 RGD:8549759 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
retinal vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO RGD PMID:19834028 RGD:11039401 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO DNA:missense mutations, haplotypes:cds:p.V249I, p.T280M (human) RGD PMID:16799040 RGD:9491394 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:19834028 RGD:11039401 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds HLA B-5 (human) RGD PMID:12608042 RGD:7364920
retinal vein occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 IEP RGD PMID:21487926 RGD:5490120 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Aqp4 aquaporin 4 IEP mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G F2 coagulation factor II no_association ISO DNA:SNP: :20210G>A (human) RGD PMID:22800650, PMID:14994919 RGD:7387258, RGD:7394774 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F5 coagulation factor V onset
no_association
ISO associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:1691G>A (human)
DNA:SNP:cds:1691G>A (human)
CTD PMID:12022286, PMID:10511031, PMID:16113792, PMID:10634550 RGD:7394767, RGD:7394778, RGD:7394773 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:10342378 RGD:8655593 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Il1b interleukin 1 beta IEP mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 IEP RGD PMID:21487926 RGD:5490120 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO DNA:snp, haplotype:cds:g.807C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12928694, PMID:12928694 RGD:8686430 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP RGD PMID:21487926 RGD:5490120 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:SNP: :677C>T(human)
DNA:missense mutation:cds:677C>T (human)
DNA:SNP: :1298A>C(human)
RGD PMID:10485556, PMID:24250697, PMID:23289804 RGD:7387256, RGD:10449421, RGD:10449405 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nrp1 neuropilin 1 ISS MouseDO NCBI chr19:61,332,351...61,486,166
Ensembl chr19:61,332,351...61,485,858
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutation:cds:p.L55M (human)
protein:decreased activity:serum (human)
RGD PMID:23441121, PMID:18084236 RGD:8547547, RGD:8547555 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human)
protein:increased activity:plasma (human)
RGD PMID:16244763, PMID:15213845 RGD:8547742, RGD:8547805 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16680105, PMID:21487926 RGD:5490120 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vegfb vascular endothelial growth factor B IEP RGD PMID:21487926 RGD:5490120 NCBI chr 1:222,237,000...222,242,786
Ensembl chr 1:222,239,022...222,242,644
JBrowse link
severe nonproliferative diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISS MouseDO NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
venous tributary occlusion of retina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 no_association ISO DNA:snp:cds:g.807C>T (human) RGD PMID:16157382 RGD:1582301 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
X-linked exudative vitreoretinopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndp norrin cystine knot growth factor NDP ISO DNA:missense mutation: :p.L124F (human)
ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linked
ClinVar Annotator: match by term: FEVR, X-LINKED
ClinVar
OMIM
PMID:95062 PMID:7558002 PMID:8252044 PMID:8457509 PMID:8535448 PMID:8946107 PMID:9143917 PMID:9382152 PMID:9618247 PMID:17050281 PMID:25741868 PMID:28492532, PMID:8252044 RGD:8694209 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      cardiovascular system disease 4489
        vascular disease 3412
          retinal vascular disease 173
            Retinal Arterial Macroaneurysm + 1
            diabetic retinopathy + 130
            exudative vitreoretinopathy + 21
            retinal ischemia 7
            retinal microaneurysm 0
            retinal telangiectasia + 14
            retinal vascular occlusion + 21
            retinal vasculitis + 7
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          eye disease 2720
            retinal disease 839
              retinal vascular disease 173
                Retinal Arterial Macroaneurysm + 1
                diabetic retinopathy + 130
                exudative vitreoretinopathy + 21
                retinal ischemia 7
                retinal microaneurysm 0
                retinal telangiectasia + 14
                retinal vascular occlusion + 21
                retinal vasculitis + 7
paths to the root