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proliferative diabetic retinopathy - Ontology Report - Rat Genome Database

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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:proliferative diabetic retinopathy
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Accession:DOID:13207 term browser browse the term
Definition:This advanced, severe stage of diabetic retinopathy mainly occurs when many of the blood vessels in the retina close, preventing sufficient blood flow. In an attempt to supply blood to the area where the original vessels closed, the retina responds by growing new blood vessels, which is called neovascularization.
Synonyms:exact_synonym: High risk PDR;   High risk proliferative diabetic retinopathy;   High risk proliferative retinopathy;   PDR
 xref: EFO:0009322;   ICD9CM:362.02;   MONDO:0001660;   NCI:C84457
For additional species annotation, visit the Alliance of Genome Resources.

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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 chr11:91,226,524...91,240,244
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 chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Bcor BCL6 co-repressor susceptibility ISO associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR RGD PMID:26248552 RGD:155631276 NCBI chr  X:13,282,431...13,402,254
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
G Cald1 caldesmon 1 ISO mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 4:64,232,906...64,414,085
Ensembl chr 4:63,265,942...63,446,932 		JBrowse link
G Calu calumenin ISO mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 4:58,914,456...58,941,957
Ensembl chr 4:57,948,997...57,976,593 		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 3:110,297,340...110,329,526
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 chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccn1 cellular communication network factor 1 ISO protein:increased expression:vitreous body (human) RGD PMID:22160564 RGD:329845551 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Coro1c coronin 1C ISO mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr12:48,373,573...48,445,718
Ensembl chr12:42,712,991...42,785,179 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 disease_progression ISO protein:decreased expression:vitreous: RGD PMID:22864860 RGD:9685437 NCBI chr 7:88,092,140...88,214,758
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 chr12:12,333,050...12,504,750
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 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Map3k8 mitogen-activated protein kinase kinase kinase 8 ISO protein:increased activity:serum: RGD PMID:28724746 RGD:151356966 NCBI chr17:58,078,175...58,098,455
Ensembl chr17:53,383,131...53,403,216 		JBrowse link
G Mir23a microRNA 23a ISO miRNA:increased expression:blood serum (human) RGD PMID:24970617 RGD:155882576 NCBI chr19:40,859,769...40,859,843
Ensembl chr19:23,954,997...23,955,071 		JBrowse link
G Mir29a microRNA 29a ISO miRNA:increased expression:vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr 4:60,617,955...60,618,042 JBrowse link
G Mir320a microRNA 320a ISO miRNA:increased expression:blood serum, vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473 		JBrowse link
G Mir423 microRNA 423 ISO miRNA:decreased expression:serum RGD PMID:31422516 RGD:158014897 NCBI chr10:62,412,272...62,412,350
Ensembl chr10:61,914,133...61,914,226 		JBrowse link
G Mir93 microRNA 93 ISO miRNA:increased expression:vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr12:22,156,844...22,156,930
Ensembl chr12:17,043,135...17,043,221 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma onset
susceptibility		 ISO DNA:snp:cds:p.P12A (rs1801282) (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human)		 RGD PMID:18541841 PMID:23559865 PMID:19125195 RGD:2301854, RGD:8552820, RGD:8699508 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO protein:increased expression:vitreous humor (human) RGD PMID:33627831 RGD:401976389 NCBI chr 3:177,056,588...177,106,424
Ensembl chr 3:156,638,769...156,687,504 		JBrowse link
G Rbp4 retinol binding protein 4 disease_progression ISO protein:increased expression:blood serum (human) RGD PMID:20233518 RGD:329853306 NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399 		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 chr12:25,237,977...25,248,356
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 chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Slit2 slit guidance ligand 2 ISO associated with eye disease; protein:increased expression:vitreous RGD PMID:28973045 RGD:243048421 NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948 		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 3:172,009,072...172,014,395
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 chr12:7,410,424...7,428,179
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 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		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 OMIM
ClinVar		 PMID:25741868 PMID:30976112 NCBI chr 1:162,196,995...162,209,563
Ensembl chr 1:152,786,511...152,798,373 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    sensory system disease 7381
      eye disease 3728
        retinal disease 1459
          retinal vascular disease 216
            diabetic retinopathy 170
              proliferative diabetic retinopathy 31
                Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6628
            carbohydrate metabolic disorder 3419
              glucose metabolism disease 0
                diabetes mellitus 1671
                  type 2 diabetes mellitus 810
                    diabetic angiopathy 204
                      diabetic retinopathy 170
                        proliferative diabetic retinopathy 31
                          Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
paths to the root