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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 occlusion
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Accession:DOID:1729 term browser browse the term
Synonyms:exact_synonym: Retinal vasc. occlusion
 xref: ICD10CM:H34;   ICD9CM:362.3;   NCI:C34980
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr18:24,038,596...24,049,061
Ensembl chr18:24,038,597...24,048,964 		JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		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 chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247 		JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:SNP:promoter:-592C>A (rs1800872) (human) RGD PMID:17438520 RGD:7365056 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		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 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:19421412 RGD:7829809 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		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 4:85,812,784...85,824,964
Ensembl chr 4:85,812,784...85,830,504 		JBrowse link
G Aqp4 aquaporin 4 IEP mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G F2 coagulation factor II, thrombin no_association ISO DNA:SNP: :20210G>A (human) RGD PMID:22800650 PMID:14994919 RGD:7387258, RGD:7394774 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246 		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 chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247 		JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:10342378 RGD:8655593 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Il1b interleukin 1 beta IEP mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il6 interleukin 6 IEP RGD PMID:21487926 RGD:5490120 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		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 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP RGD PMID:21487926 RGD:5490120 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		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 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Nrp1 neuropilin 1 ISS MouseDO NCBI chr19:73,256,557...73,411,705
Ensembl chr19:73,256,557...73,411,702 		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 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		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 chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		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 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Vegfb vascular endothelial growth factor B IEP RGD PMID:21487926 RGD:5490120 NCBI chr 1:213,601,570...213,607,254
Ensembl chr 1:213,600,966...213,607,152 		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 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      cardiovascular system disease 4275
        vascular disease 3427
          retinal vascular disease 202
            retinal vascular occlusion 21
              retinal artery occlusion + 21
              retinal vein occlusion + 19
              venous tributary occlusion of retina 2
Path 2
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Signs and Symptoms 6804
        Neurologic Manifestations 5934
          sensory system disease 4800
            eye disease 2086
              retinal disease 848
                retinal vascular disease 202
                  retinal vascular occlusion 21
                    retinal artery occlusion + 21
                    retinal vein occlusion + 19
                    venous tributary occlusion of retina 2
paths to the root