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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 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:decreased expression:aqueous humor: RGD PMID:23853629 RGD:10402120 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:decreased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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 chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:25741868 PMID:28492532 PMID:29111009 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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 More... NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Coats disease ClinVar PMID:26908610 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:30459466 NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307
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 More... NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091
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 chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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
RGD
PMID:31380462 PMID:21792177 PMID:31380462 RGD:8548900, RGD:40818278 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12495297 RGD:2313184 NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adm adrenomedullin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:19216096 RGD:2313312 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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 chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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 More... 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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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
RGD
PMID:15387897 PMID:10862638 PMID:21792177 RGD:8548872, RGD:8548900 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16601577 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Akt1 AKT serine/threonine kinase 1 IEP mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Ang angiogenin ISO associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Angpt1 angiopoietin 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:12000720 RGD:2313818 NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
JBrowse link
G Angpt2 angiopoietin 2 IEP
IDA
protein:increased expression:retina (rat) RGD PMID:16520919 PMID:16520919 RGD:2314216, RGD:2314216 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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 chr10:86,272,757...86,280,702 JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apob apolipoprotein B ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19448981 RGD:2313976 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoc3 apolipoprotein C3 severity ISO protein:increased expression:serum RGD PMID:15642486 RGD:2306768 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Apoh apolipoprotein H ISO protein:increased expression:vitreous humor RGD PMID:18695102 RGD:2313982 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
JBrowse link
G Aqp4 aquaporin 4 IMP RGD PMID:22449442 RGD:8695996 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Bdkrb1 bradykinin receptor B1 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:18311190 RGD:2313334 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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
RGD
PMID:20654064 PMID:19187597 PMID:19013511 RGD:2311444, RGD:2311448 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Cat catalase IEP protein:decreased expression:retina RGD PMID:21314438 RGD:5130875 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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 chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO associated with Diabetes Mellitus, Experimental RGD PMID:22677420 RGD:8551828 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd34 CD34 molecule IEP mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr13:106,480,074...106,499,462
Ensembl chr13:106,480,043...106,499,832
JBrowse link
G Cd59 CD59 molecule IEP protein:decreased expression:retina RGD PMID:12453906 RGD:1600487 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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 chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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 chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Cldn1 claudin 1 treatment IEP RGD PMID:25685822 RGD:11341734 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
JBrowse link
G Clu clusterin treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19875648 RGD:9068395 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20012460 PMID:20012460 RGD:8547537 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:17194635 RGD:2311361 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Cyba cytochrome b-245 alpha chain IEP associated with Diabetes Mellitus, Experimental RGD PMID:19685553 RGD:2317854 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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 chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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 chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Eln elastin ISO RGD PMID:11707314 RGD:9585734 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Ep300 E1A binding protein p300 IMP associated with Diabetes Mellitus, Experimental RGD PMID:21885871 RGD:7349382 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,178,529
Ensembl chr 7:113,106,247...113,178,529
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 chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:aqueous humor,serum RGD PMID:12417540 RGD:2313865 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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 chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment ISO
IEP
RGD PMID:17143550 PMID:18174522 RGD:2313721, RGD:10402119 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
JBrowse link
G Gad2 glutamate decarboxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21412422 NCBI chr17:84,763,630...84,826,155
Ensembl chr17:84,763,628...84,826,155
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IEP associated with Diabetes Mellitus, Experimental RGD PMID:18852331 RGD:2315975 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:vitreous body RGD PMID:16080911 RGD:2315548 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum RGD PMID:11311965 RGD:2315614 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
JBrowse link
G Gh1 growth hormone 1 ISO RGD PMID:3183302 RGD:2315688 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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 chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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 chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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 chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hras HRas proto-oncogene, GTPase IDA RGD PMID:14988264 RGD:1358731 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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
RGD
PMID:10485912 PMID:18834676 PMID:25066112 PMID:18942221 RGD:2313472, RGD:11354984, RGD:2313471 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor disease_progression IEP mRNA:increased expression:retina: RGD PMID:12781065 RGD:10046008 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30463601 PMID:22046295 RGD:6902909 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga4 integrin subunit alpha 4 treatment IMP associated with Diabetes Mellitus, Experimental RGD PMID:19553613 RGD:9698417 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
JBrowse link
G Itgb3 integrin subunit beta 3 ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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 chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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 chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mir21 microRNA 21 IEP RNA:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:12714657 PMID:18552985 RGD:1582582, RGD:8547849 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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 5:109,761,345...109,826,652
Ensembl chr 5:109,776,286...109,819,967
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 IDA associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina RGD PMID:23633659 RGD:10412733 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum RGD PMID:18282491 RGD:7242804 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nos1 nitric oxide synthase 1 IEP mRNA, protein:decreased expression:retina RGD PMID:17545029 RGD:1642141 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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 More... RGD:7421531, RGD:7777103, RGD:7777101, RGD:7775042, RGD:7771606, RGD:7771569, RGD:7771568, RGD:7771565, RGD:7421533, RGD:7421532 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nppa natriuretic peptide A ISO protein:increased expression:vitreous humor RGD PMID:15273657 RGD:2313589 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Npr3 natriuretic peptide receptor 3 IEP mRNA:decreased expression:retina (rat) RGD PMID:15789000 RGD:1580773 NCBI chr 2:60,865,483...60,933,432
Ensembl chr 2:60,870,594...60,932,955
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 chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591
JBrowse link
G Ocln occludin treatment IEP RGD PMID:25685822 RGD:11341734 NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
JBrowse link
G Pgf placental growth factor IEP associated with Diabetes Mellitus, Type 2 RGD PMID:21408222 RGD:6483775 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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
RGD
PMID:9661650 PMID:20012460 PMID:16949520 PMID:24100645 PMID:15270786 More... RGD:2313272, RGD:8547572, RGD:8547548, RGD:8547537 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO Retinal Leukostasis;associated with Diabetes Mellitus, Experimental RGD PMID:17003451 RGD:8552824 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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 chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Pten phosphatase and tensin homolog IEP mRNA, protein:decreased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Retn resistin ISO associated with Diabetes Mellitus, Type 2 RGD PMID:17303077 RGD:7207162 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
JBrowse link
G RT1-A1 RT1 class Ia, locus A1 susceptibility ISO associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human) RGD PMID:22981956 RGD:7365095 NCBI chr20:4,905,309...4,914,593 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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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 NCBI chr20:3,314,984...3,318,037 JBrowse link
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Serpina4 serpin family A member 4 ISO protein:decreased expression:vitreous fluid (human) RGD PMID:8950506 RGD:1580289 NCBI chr 6:122,999,970...123,009,083
Ensembl chr 6:122,999,900...123,009,082
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 More... RGD:2312346, RGD:2312337, RGD:2312341, RGD:2312348, RGD:2312344, RGD:1580135 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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 1:181,238,449...181,271,931
Ensembl chr 1:181,238,468...181,274,781
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894401 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Sod1 superoxide dismutase 1 ISO human gene in a mouse model
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:19074809 PMID:19074809 RGD:8655572 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:12663605 RGD:1581298 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Thbs1 thrombospondin 1 IEP
ISO
associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17117553 PMID:17117553 RGD:2317943 NCBI chr 3:105,056,286...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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 chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351
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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:15899948 RGD:1580363 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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
RGD
PMID:11978667 PMID:15788408 PMID:20577866 PMID:17513698 PMID:31759996 More... RGD:2301992, RGD:41410819, RGD:8547996, RGD:1580565 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vtn vitronectin ISO
IEP
associated with Diabetes Mellitus, Experimental RGD PMID:7536680 PMID:8804356 RGD:1580818, RGD:10040982 NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:10077454 RGD:1580648 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:19585364 RGD:7401211 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G RT1-A1 RT1 class Ia, locus A1 ISO DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human) RGD PMID:9756436 RGD:7365108 NCBI chr20:4,905,309...4,914,593 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 NCBI chr20:3,314,984...3,318,037 JBrowse link
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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 More... NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
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 More... NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091
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 PMID:28492532 NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar NCBI chr 3:77,615,595...77,621,325 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 1:143,739,472...143,791,026
Ensembl chr 1:143,739,474...143,790,926
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 1:144,167,993...144,225,622
Ensembl chr 1:144,167,857...144,225,656
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 1:144,386,252...144,387,514
Ensembl chr 1:144,386,158...144,389,850
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 1:144,416,864...144,423,540
Ensembl chr 1:144,417,446...144,428,553
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:28575650 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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 1:144,451,653...146,503,949
Ensembl chr 1:144,451,472...146,499,475
JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974
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
RGD
PMID:12172548 PMID:14507768 PMID:15035989 PMID:15370539 PMID:15488808 More... RGD:1598999 NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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 1:143,825,922...143,849,374
Ensembl chr 1:143,825,923...143,849,363
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 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Me3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,534,024...143,735,551
Ensembl chr 1:143,534,139...143,733,132
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 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557
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 More... NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091
JBrowse link
G Sytl2 synaptotagmin-like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,272,870...144,379,310
Ensembl chr 1:144,273,360...144,379,222
JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,422,698...144,430,730
Ensembl chr 1:144,422,703...144,430,628
JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,437,142...144,451,508
Ensembl chr 1:144,437,145...144,451,435
JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,006,343...143,279,824
Ensembl chr 1:143,006,344...143,221,171
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 3:77,615,595...77,621,325 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 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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 More... NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
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:28492532 PMID:29982478 NCBI chr 3:77,615,595...77,621,325 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 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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 chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:vitreous humor RGD PMID:16364297 RGD:8695978 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 disease_progression ISO protein:decreased expression:vitreous: RGD PMID:22864860 RGD:9685437 NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:vitreous: RGD PMID:22868384 RGD:10402118 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Il6r interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:17401618 RGD:10402814 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860
JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO mRNA:decreased expression:retina RGD PMID:22003103 RGD:13463597 NCBI chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351
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 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 supravalvular pulmonic stenosis
ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis
OMIM
ClinVar
PMID:12441727 PMID:21835307 PMID:25741868 NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314
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 chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:SNP:promoter:-592C>A (rs1800872) (human) RGD PMID:17438520 RGD:7365056 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:19421412 RGD:7829809 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23537149 RGD:10755711 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:23537149 RGD:10755711 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Ngb neuroglobin IEP associated with Ocular Hypertension;protein:increased expression:retina RGD PMID:22553688 RGD:9854634 NCBI chr 6:106,744,378...106,749,830
Ensembl chr 6:106,744,378...106,749,830
JBrowse link
G Ptger4 prostaglandin E receptor 4 IEP protein:decreased expression:retina (rat) RGD PMID:12821538 RGD:9850261 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G Thy1 Thy-1 cell surface antigen treatment IEP RGD PMID:23537149 RGD:10755711 NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
JBrowse link
G Vegfa vascular endothelial growth factor A treatment IEP RGD PMID:23537149 RGD:10755711 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression,increased phosphorylation:eye: RGD PMID:23221067 RGD:8549759 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Vegfa vascular endothelial growth factor A severity ISO protein:increased expression:eye: RGD PMID:23221067 RGD:8549759 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:19834028 RGD:11039401 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G RT1-A1 RT1 class Ia, locus A1 ISO associated with Behcet Syndrome; DNA:polymorphism:cds HLA B-5 (human) RGD PMID:12608042 RGD:7364920 NCBI chr20:4,905,309...4,914,593 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 NCBI chr20:3,314,984...3,318,037 JBrowse link
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 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
JBrowse link
G Aqp4 aquaporin 4 IEP mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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
RGD
PMID:12022286 PMID:10511031 PMID:16113792 PMID:10634550 RGD:7394767, RGD:7394778, RGD:7394773 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:10342378 RGD:8655593 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Il1b interleukin 1 beta IEP mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 IEP RGD PMID:21487926 RGD:5490120 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO DNA:snp, haplotype:cds:g.807C>T (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12928694 PMID:12928694 RGD:8686430 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP RGD PMID:21487926 RGD:5490120 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nrp1 neuropilin 1 ISS MouseDO NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633
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 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16680105 PMID:21487926 RGD:5490120 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vegfb vascular endothelial growth factor B IEP RGD PMID:21487926 RGD:5490120 NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
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 chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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
RGD
PMID:95062 PMID:7558002 PMID:8252044 PMID:8457509 PMID:8535448 More... RGD:8694209 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      cardiovascular system disease 4539
        vascular disease 3458
          retinal vascular disease 174
            Retinal Arterial Macroaneurysm + 1
            diabetic retinopathy + 131
            exudative vitreoretinopathy + 21
            retinal ischemia 7
            retinal microaneurysm 0
            retinal telangiectasia + 14
            retinal vascular occlusion + 21
            retinal vasculitis + 8
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        sensory system disease 5712
          eye disease 2800
            retinal disease 841
              retinal vascular disease 174
                Retinal Arterial Macroaneurysm + 1
                diabetic retinopathy + 131
                exudative vitreoretinopathy + 21
                retinal ischemia 7
                retinal microaneurysm 0
                retinal telangiectasia + 14
                retinal vascular occlusion + 21
                retinal vasculitis + 8
paths to the root