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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:diabetic retinopathy
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Accession:DOID:8947 term browser browse the term
Definition:Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION.
Synonyms:exact_synonym: diabetic retinopathies;   retinal abnormality - diabetes-related
 broad_synonym: diabetic eye disease
 primary_id: MESH:D003930
 xref: EFO:0003770;   EFO:0009486;   ICD9CM:362.0;   NCI:C34538
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
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		 IEA
IEP
IAGP		 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 chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACE2 angiotensin converting enzyme 2 treatment IMP
EXP		 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:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G ACP1 acid phosphatase 1 IDA associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12495297 RGD:2313184 NCBI chr 2:264,947...278,283
Ensembl chr 2:264,140...278,283 		JBrowse link
G ADAMTS9-AS2 ADAMTS9 antisense RNA 2 susceptibility IAGP DNA:SNP:: (rs4607103) (human) RGD PMID:28821857 RGD:401850599 NCBI chr 3:64,684,870...65,011,468
Ensembl chr 3:64,684,879...65,061,892 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing disease_progression IAGP
IEP		 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 chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADM adrenomedullin IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:19216096 RGD:2313312 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397 		JBrowse link
G ADRB3 adrenoceptor beta 3 IAGP associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:9313761 RGD:5684400 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AGER advanced glycosylation end-product specific receptor no_association
treatment
severity
susceptibility		 IEA
IAGP
ISO
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 chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGT angiotensinogen treatment IAGP
EXP
ISO		 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 chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G AGTR1 angiotensin II receptor type 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16601577 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B no_association
susceptibility		 ISO
IAGP		 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 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ANG angiogenin IDA associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G ANGPT1 angiopoietin 1 IMP associated with Diabetes Mellitus, Experimental RGD PMID:12000720 RGD:2313818 NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055 		JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:retina (rat) RGD PMID:16520919 RGD:2314216 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G AOC3 amine oxidase copper containing 3 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:11522499 RGD:2313826 NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130 		JBrowse link
G APOA4 apolipoprotein A4 IEP protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G APOB apolipoprotein B IDA associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19448981 RGD:2313976 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOC3 apolipoprotein C3 severity IEP protein:increased expression:serum RGD PMID:15642486 RGD:2306768 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G APOE apolipoprotein E susceptibility
no_association		 IAGP associated with Diabetic Mellitus type 2;DNA:polymorphism:exon: RGD PMID:16862278 PMID:11495633 RGD:7771557, RGD:7771553 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APOH apolipoprotein H IEP protein:increased expression:vitreous humor RGD PMID:18695102 RGD:2313982 NCBI chr17:66,212,033...66,229,415
Ensembl chr17:66,212,033...66,256,525 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:22449442 RGD:8695996 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G ATG7 autophagy related 7 ISO associated with type 2 diabetes mellitus;protein:decreased, altered expression:retina
associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina		 RGD PMID:32272782 PMID:32272782 RGD:407571700, RGD:407571700 NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665 		JBrowse link
G BDKRB1 bradykinin receptor B1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:18311190 RGD:2313334 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967 		JBrowse link
G BDNF brain derived neurotrophic factor ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: RGD PMID:15331553 RGD:8655657 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BECN1 beclin 1 ISO associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina
associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina		 RGD PMID:32272782 PMID:32272782 RGD:407571700, RGD:407571700 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350 		JBrowse link
G CASP3 caspase 3 ISO
EXP		 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 chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CASP9 caspase 9 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina RGD PMID:18369072 RGD:2311244 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534 		JBrowse link
G CAT catalase ISO protein:decreased expression:retina RGD PMID:21314438 RGD:5130875 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina (rat) RGD PMID:23010641 RGD:8548887 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 severity IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
protein:increased expression:serum		 RGD PMID:18978347 PMID:16249511 RGD:2307061, RGD:2307104 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CCN2 cellular communication network factor 2 ISO associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) RGD PMID:19450451 RGD:2314507 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO associated with Diabetes Mellitus, Experimental RGD PMID:22677420 RGD:8551828 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CD34 CD34 molecule ISO mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 1:207,880,972...207,911,125
Ensembl chr 1:207,880,972...207,911,402 		JBrowse link
G CD59 CD59 molecule (CD59 blood group) ISO protein:decreased expression:retina RGD PMID:12453906 RGD:1600487 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479 		JBrowse link
G CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 disease_progression IAGP DNA:SNP:intron: (rs7756992) (human) RGD PMID:28821857 RGD:401850599 NCBI chr 6:20,534,457...21,232,404
Ensembl chr 6:20,534,457...21,232,404 		JBrowse link
G CFB complement factor B no_association IAGP 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 chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CFH complement factor H IAGP 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 chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CLDN1 claudin 1 treatment ISO RGD PMID:25685822 RGD:11341734 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446 		JBrowse link
G CLU clusterin treatment IDA associated with Diabetes Mellitus, Experimental RGD PMID:19875648 RGD:9068395 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G CRP C-reactive protein IEP
EXP		 protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20012460 PMID:20012460 RGD:8547537 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP RGD PMID:17194635 RGD:2311361 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 severity IEP protein:increased expression:vitreous humor RGD PMID:15630447 RGD:2306559 NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493 		JBrowse link
G CYBA cytochrome b-245 alpha chain ISO associated with Diabetes Mellitus, Experimental RGD PMID:19685553 RGD:2317854 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 severity ISO
IEP		 mRNA,protein:increased expression:retina: RGD PMID:30787185 PMID:34362349 RGD:155663348, RGD:155663356 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G EDN1 endothelin 1 IAGP
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 chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EGFR epidermal growth factor receptor treatment IEP
ISO		 protein:increased expression:retina
associated with Diabetes Mellitus, Experimental		 RGD PMID:7947554 PMID:23831329 RGD:1580957, RGD:10059675 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G ELN elastin IDA RGD PMID:11707314 RGD:9585734 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ENG endoglin IEP associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body RGD PMID:16202216 RGD:1580961 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G EP300 E1A binding protein p300 ISO associated with Diabetes Mellitus, Experimental RGD PMID:21885871 RGD:7349382 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPO erythropoietin susceptibility IAGP
IMP
IEP
IDA		 DNA:snp:promoter:-1125T>G(rs1617640)(human)
associated with Diabetes Mellitus, Experimental
protein:increased expression:serum,vitreous body		 RGD PMID:18458324 PMID:24508793 PMID:18670462 PMID:18235022 RGD:2313838, RGD:10400906, RGD:2313837, RGD:2313890 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G F13A1 coagulation factor XIII A chain IEP protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
G F3 coagulation factor III, tissue factor IEP protein:increased expression:aqueous humor,serum RGD PMID:12417540 RGD:2313865 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759 		JBrowse link
G F7 coagulation factor VII IEP associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:10837382 RGD:2312398 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685 		JBrowse link
G FGF2 fibroblast growth factor 2 IEP
ISO
IAGP		 associated with Pregnancy in Diabetics
associated with Diabetes Mellitus, Experimental
DNA:polymorphism:promotor:g.-553T>A(human)
DNA:polymorphism:intron:g.754C>G(human)		 RGD PMID:9141532 PMID:14975211 PMID:18279437 PMID:17997184 RGD:2315885, RGD:2315875, RGD:2315844, RGD:2315845 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment IMP
ISO		 RGD PMID:17143550 PMID:18174522 RGD:2313721, RGD:10402119 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased activity:retina RGD PMID:10353622 RGD:2315932 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G GAD2 glutamate decarboxylase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21412422 NCBI chr10:26,216,372...26,304,558
Ensembl chr10:26,216,665...26,304,558 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO associated with Diabetes Mellitus, Experimental RGD PMID:18852331 RGD:2315975 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374 		JBrowse link
G GC GC vitamin D binding protein IEP protein:increased expression:vitreous body RGD PMID:16080911 RGD:2315548 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G GGT1 gamma-glutamyltransferase 1 IEP associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum RGD PMID:11311965 RGD:2315614 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005 		JBrowse link
G GH1 growth hormone 1 IDA RGD PMID:3183302 RGD:2315688 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GLO1 glyoxalase I IAGP DNA:SNP:promoter:-7C>T (human) RGD PMID:21738003 RGD:7242569 NCBI chr 6:38,675,925...38,703,145
Ensembl chr 6:38,675,925...38,703,145 		JBrowse link
G GLUL glutamate-ammonia ligase treatment ISO associated with Experimental Diabetes Mellitus RGD PMID:34133251 RGD:401794594 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human) RGD PMID:19752172 RGD:7495818 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 disease_progression
no_association		 IAGP 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
G HES1 hes family bHLH transcription factor 1 ISO mRNA:increased expression:retina: RGD PMID:30787185 RGD:155663348 NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO mRNA:increased expression:retina: RGD PMID:30787185 RGD:155663348 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G HFE homeostatic iron regulator IAGP associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15347835 RGD:8694362 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HGF hepatocyte growth factor disease_progression IEP associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum RGD PMID:18335393 PMID:15525877 RGD:2313565, RGD:8548539 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha severity
treatment		 IEP
ISO		 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 chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human) RGD PMID:22981956 RGD:7365095 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility
severity		 IAGP 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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP associated with Diabetes Mellitus Type 1;DNA:polymorphism::DRB1*0301,DRB1*0402(human) RGD PMID:23837223 RGD:7365113 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO RGD PMID:14988264 RGD:1358731 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment IEP
EXP
ISO
IAGP		 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 chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IGF1 insulin like growth factor 1 susceptibility IAGP
IEP		 protein:decreased expression:serum RGD PMID:16873705 PMID:17194636 RGD:1598424, RGD:2313764 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor disease_progression ISO mRNA:increased expression:retina: RGD PMID:12781065 RGD:10046008 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IL10 interleukin 10 susceptibility IEP
IAGP		 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:16696964 PMID:18988929 RGD:2307061, RGD:7364856, RGD:1598486, RGD:2307272 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL18 interleukin 18 ISO
IEP		 associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:19011009 PMID:16260350 RGD:4889417, RGD:8655907 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL1A interleukin 1 alpha IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta IEP 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 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL6 interleukin 6 susceptibility IEP
IAGP		 associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (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; DNA:polymorphism:promoter:-174G>C (human)		 RGD PMID:18988929 PMID:19542902 PMID:17725274 PMID:19140096 RGD:2307272, RGD:7829816, RGD:7829749, RGD:2307267 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INS insulin IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30463601 PMID:22046295 RGD:6902909 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INSR insulin receptor ISS MouseDO NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G ITGA2 integrin subunit alpha 2 severity
no_association
susceptibility		 IAGP 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 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779 		JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19553613 RGD:9698417 NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940 		JBrowse link
G ITGAM integrin subunit alpha M ISO mRNA, protein:increased expression:retina (rat) RGD PMID:33614447 RGD:329901937 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G ITGB3 integrin subunit beta 3 IEP protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO mRNA,protein:increased expression:retina: RGD PMID:30787185 RGD:155663348 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:21672350 PMID:22143324 RGD:8662869, RGD:8662907 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KDM1A lysine demethylase 1A ISO
IEP		 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 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina RGD PMID:23633659 RGD:10412733 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G LOC129936399 ATAC-STARR-seq lymphoblastoid silent region 14158 IAGP ClinVar Annotator: match by term: Diabetic retinopathy ClinVar PMID:25741868 PMID:28162229 PMID:30222965 PMID:34572573 NCBI chr 3:30,606,675...30,606,774 JBrowse link
G LTA lymphotoxin alpha no_association
susceptibility		 IAGP 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 chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MESP1 mesoderm posterior bHLH transcription factor 1 IEP associated with type 2 diabetes mellitus;DNA:increased expression:plasma (human) RGD PMID:33221518 RGD:242905212 NCBI chr15:89,732,446...89,751,249
Ensembl chr15:89,749,875...89,751,249 		JBrowse link
G MFN2 mitofusin 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat) RGD PMID:28487236 RGD:12910715 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MIR126 microRNA 126 ameliorates ISO RNA:decreased expression:serum,retina RGD PMID:33416109 PMID:33416109 RGD:401850543, RGD:401850543 NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686 		JBrowse link
G MIR17 microRNA 17 treatment ISO RGD PMID:33333415 RGD:329349303 NCBI chr13:91,350,605...91,350,688
Ensembl chr13:91,350,605...91,350,688 		JBrowse link
G MIR21 microRNA 21 ISO RNA:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G MIR320A microRNA 320a IEP miRNA:decreased expression:blood plasma (human) RGD PMID:32178730 RGD:155882566 NCBI chr 8:22,244,966...22,245,037
Ensembl chr 8:22,244,962...22,245,043 		JBrowse link
G MMP2 matrix metallopeptidase 2 IDA
IEP		 protein:increased expression:plasma RGD PMID:12714657 PMID:18552985 RGD:1582582, RGD:8547849 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression IDA
ISO
IEP		 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 chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) RGD PMID:9040583 RGD:6893525 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 susceptibility IAGP 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 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina RGD PMID:23633659 RGD:10412733 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NGF nerve growth factor IEP
ISO		 protein:increased expression:serum
associated with Experimental Diabetes Mellitus		 RGD PMID:18282491 PMID:24030532 RGD:7242804, RGD:405100241 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO mRNA, protein:decreased expression:retina RGD PMID:17545029 RGD:1642141 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170 		JBrowse link
G NOS3 nitric oxide synthase 3 no_association
susceptibility
treatment
severity
onset		 IAGP
ISO		 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 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOTCH1 notch receptor 1 treatment ISO RGD PMID:30787185 RGD:155663348 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NPPA natriuretic peptide A IEP protein:increased expression:vitreous humor RGD PMID:15273657 RGD:2313589 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NPR3 natriuretic peptide receptor 3 ISO mRNA:decreased expression:retina (rat) RGD PMID:15789000 RGD:1580773 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO associated with Experimental Diabetes Mellitus;protein:altered expression:retina RGD PMID:37904673 RGD:408364965 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NRP1 neuropilin 1 treatment ISO RGD PMID:26554379 RGD:401901170 NCBI chr10:33,177,493...33,334,667
Ensembl chr10:33,177,492...33,336,262 		JBrowse link
G NUTF2 nuclear transport factor 2 treatment IEP
ISO		 mRNA:decreased expression:peripheral blood: RGD PMID:19404486 PMID:19404486 RGD:9831377, RGD:9831377 NCBI chr16:67,846,933...67,872,567
Ensembl chr16:67,846,882...67,872,567 		JBrowse link
G OCLN occludin treatment ISO RGD PMID:25685822 RGD:11341734 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G PF4 platelet factor 4 ISO protein:increased expression:retina RGD PMID:23352833 RGD:329901846 NCBI chr 4:73,980,811...73,982,124
Ensembl chr 4:73,980,811...73,982,027 		JBrowse link
G PGF placental growth factor ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21408222 RGD:6483775 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G PLK4 polo like kinase 4 treatment ISO RGD PMID:33416109 RGD:401850543 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP
EXP
IEP		 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 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO Retinal Leukostasis;associated with Diabetes Mellitus, Experimental RGD PMID:17003451 RGD:8552824 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) RGD PMID:20566666 PMID:22003111 RGD:6484532, RGD:5686899 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PTEN phosphatase and tensin homolog ISO mRNA, protein:decreased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RBP4 retinol binding protein 4 severity IEP protein:increased expression:blood plasma (human) RGD PMID:30135138 RGD:329849110 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G RETN resistin IEP associated with Diabetes Mellitus, Type 2 RGD PMID:17303077 RGD:7207162 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO mRNA,protein:increased expression:retina RGD PMID:28973045 RGD:243048421 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G SERPINA4 serpin family A member 4 IEP protein:decreased expression:vitreous fluid (human) RGD PMID:8950506 RGD:1580289 NCBI chr14:94,561,442...94,569,906
Ensembl chr14:94,561,442...94,569,913 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility
no_association		 IAGP
IEP		 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 chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SERPINF1 serpin family F member 1 severity IEP
ISO
IAGP		 protein:alternative form:vitreous humor
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human)
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
protein:increased expression:vitreous humor
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor		 RGD PMID:19365032 PMID:16054135 PMID:17658465 PMID:18455830 PMID:15059706 More... RGD:2312337, RGD:2312348, RGD:2312346, RGD:2312341, RGD:1580135, RGD:2312344 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SGF29 SAGA complex associated factor 29 severity IAGP associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human) RGD PMID:21441570 RGD:9587455 NCBI chr16:28,553,920...28,591,790
Ensembl chr16:28,553,915...28,591,790 		JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894401 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA,protein:increased expression:retina RGD PMID:28973045 RGD:243048421 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561 		JBrowse link
G SOD1 superoxide dismutase 1 IMP
EXP		 human gene in a mouse model
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:19074809 PMID:19074809 RGD:8655572 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD3 superoxide dismutase 3 IDA RGD PMID:12663605 RGD:1581298 NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 treatment ISO associated with type 2 diabetes mellitus RGD PMID:30096827 RGD:155631301 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Diabetic retinopathy ClinVar PMID:9536098 PMID:15731757 PMID:16799921 PMID:17576681 PMID:21270064 More... NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THBS1 thrombospondin 1 ISO
EXP		 associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17117553 PMID:17117553 RGD:2317943 NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466 		JBrowse link
G TIMM44 translocase of inner mitochondrial membrane 44 ISO associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina RGD PMID:22003103 RGD:13463597 NCBI chr19:7,926,718...7,943,666
Ensembl chr19:7,926,718...7,943,667 		JBrowse link
G TLR4 toll like receptor 4 onset IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.N299G (human) RGD PMID:19135114 RGD:2312487 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNF tumor necrosis factor no_association
disease_progression		 IAGP
IEP		 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 chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G UTS2 urotensin 2 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18338983 RGD:2306795 NCBI chr 1:7,847,612...7,913,249
Ensembl chr 1:7,843,083...7,853,512 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum RGD PMID:19237221 RGD:2312762 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
G VDR vitamin D receptor IAGP RGD PMID:15899948 RGD:1580363 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VEGFA vascular endothelial growth factor A IAGP
ISO
EXP
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 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G VPS26A VPS26 retromer complex component A susceptibility IAGP DNA:SNP:: (rs1802295) (Human) RGD PMID:28821857 RGD:401850599 NCBI chr10:69,124,178...69,174,412
Ensembl chr10:69,123,512...69,174,412 		JBrowse link
G VTN vitronectin IEP
ISO		 associated with Diabetes Mellitus, Experimental RGD PMID:7536680 PMID:8804356 RGD:1580818, RGD:10040982 NCBI chr17:28,367,284...28,370,307
Ensembl chr17:28,367,284...28,373,091 		JBrowse link
G VWF von Willebrand factor IEP RGD PMID:10077454 RGD:1580648 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein susceptibility IAGP DNA:SNP:: (rs10010131) (Human) RGD PMID:28821857 RGD:401850599 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility IAGP DNA:SNP:cd: p.R399Q G>A (rs25487) (human) RGD PMID:30472145 RGD:401827275 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
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 IDA RGD PMID:10848441 RGD:10046010 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229 		JBrowse link
G CAT catalase IEP associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: RGD PMID:24092995 RGD:9068931 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:decreased expression:aqueous humor: RGD PMID:23853629 RGD:10402120 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 IEP protein:increased activity:serum: RGD PMID:28724746 RGD:151356966 NCBI chr10:30,434,021...30,461,833
Ensembl chr10:30,434,021...30,461,833 		JBrowse link
G PDGFB platelet derived growth factor subunit B IEP protein:decreased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		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 IAGP ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:30976112 NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747 		JBrowse link
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 IEP associated with Diabetes Mellitus, Type 2;protein:increased expression:aqueous humor RGD PMID:22563689 RGD:8694466 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AGER advanced glycosylation end-product specific receptor IEP protein:increased expression:vitreous humor RGD PMID:16364297 RGD:8695978 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G BCOR BCL6 corepressor susceptibility IDA associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR RGD PMID:26248552 RGD:155631276 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G CALD1 caldesmon 1 IEP mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 7:134,745,467...134,970,729
Ensembl chr 7:134,744,252...134,970,729 		JBrowse link
G CALU calumenin IEP mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 7:128,739,359...128,773,400
Ensembl chr 7:128,739,292...128,773,400 		JBrowse link
G CAT catalase IEP associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: RGD PMID:24092995 RGD:9068931 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression IAGP
IEP		 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 chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCN1 cellular communication network factor 1 IEP protein:increased expression:vitreous body (human) RGD PMID:22160564 RGD:329845551 NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IEP mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IEP mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CORO1C coronin 1C IEP mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr12:108,645,109...108,731,518
Ensembl chr12:108,645,109...108,731,526 		JBrowse link
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 disease_progression IEP protein:decreased expression:vitreous: RGD PMID:22864860 RGD:9685437 NCBI chr 8:119,557,086...119,673,390
Ensembl chr 8:119,557,086...119,673,453 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:vitreous: RGD PMID:22868384 RGD:10402118 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G IL6R interleukin 6 receptor IEP protein:increased expression:serum RGD PMID:17401618 RGD:10402814 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 IEP protein:increased activity:serum: RGD PMID:28724746 RGD:151356966 NCBI chr10:30,434,021...30,461,833
Ensembl chr10:30,434,021...30,461,833 		JBrowse link
G MIR15A microRNA 15a HEP miRNA:increased expression:vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr13:50,049,119...50,049,201
Ensembl chr13:50,049,119...50,049,201 		JBrowse link
G MIR23A microRNA 23a HEP miRNA:increased expression:blood serum (human) RGD PMID:24970617 RGD:155882576 NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659 		JBrowse link
G MIR29A microRNA 29a HEP miRNA:increased expression:vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr 7:130,876,747...130,876,810
Ensembl chr 7:130,876,747...130,876,810 		JBrowse link
G MIR320A microRNA 320a HEP miRNA:increased expression:blood serum, vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr 8:22,244,966...22,245,037
Ensembl chr 8:22,244,962...22,245,043 		JBrowse link
G MIR320B1 microRNA 320b-1 HEP miRNA:increased expression:blood serum, vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr 1:116,671,746...116,671,817
Ensembl chr 1:116,671,749...116,671,827 		JBrowse link
G MIR423 microRNA 423 HEP
IEP		 miRNA:increased expression:vitreous humor (human)
miRNA:decreased expression:serum		 RGD PMID:24970617 PMID:31422516 RGD:155882576, RGD:158014897 NCBI chr17:30,117,079...30,117,172
Ensembl chr17:30,117,079...30,117,172 		JBrowse link
G MIR93 microRNA 93 HEP miRNA:increased expression:vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr 7:100,093,768...100,093,847
Ensembl chr 7:100,093,768...100,093,847 		JBrowse link
G PDGFB platelet derived growth factor subunit B IEP protein:increased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma onset
susceptibility		 IMP
IAGP		 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 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 IEP protein:increased expression:vitreous humor (human) RGD PMID:33627831 RGD:401976389 NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241 		JBrowse link
G RBP4 retinol binding protein 4 disease_progression IEP protein:increased expression:blood serum (human) RGD PMID:20233518 RGD:329853306 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility
disease_progression		 IAGP
IEP		 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 chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SERPINF1 serpin family F member 1 treatment IDA
IEP		 protein:increased expression:vitreous fluid (human) RGD PMID:11723044 PMID:15059706 RGD:8554895, RGD:1580135 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SLIT2 slit guidance ligand 2 IEP associated with eye disease; protein:increased expression:vitreous RGD PMID:28973045 RGD:243048421 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561 		JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 IAGP DNA:snp:exon:p.P281P (rs2235611) (human) RGD PMID:21309690 RGD:11039452 NCBI chr20:43,457,896...43,464,243
Ensembl chr20:43,457,893...43,466,046 		JBrowse link
G TIMM44 translocase of inner mitochondrial membrane 44 IEP mRNA:decreased expression:retina RGD PMID:22003103 RGD:13463597 NCBI chr19:7,926,718...7,943,666
Ensembl chr19:7,926,718...7,943,667 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO associated with Diabetes Mellitus, Type 2; protein:increased expression:retina RGD PMID:16054135 RGD:2312348 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		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 chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 146647
    sensory system disease 26683
      eye disease 10406
        retinal disease 3340
          retinal vascular disease 520
            diabetic retinopathy 468
              background diabetic retinopathy + 6
              diabetic macular edema 2
              diabetic maculopathy + 12
              proliferative diabetic retinopathy + 77
Path 2
Term Annotations click to browse term
  disease 146647
    Developmental Disease 49217
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 42696
        genetic disease 40474
          inherited metabolic disorder 21857
            carbohydrate metabolic disorder 15317
              glucose metabolism disease 13632
                diabetes mellitus 10835
                  type 2 diabetes mellitus 8311
                    diabetic angiopathy 516
                      diabetic retinopathy 468
                        background diabetic retinopathy + 6
                        diabetic macular edema 2
                        diabetic maculopathy + 12
                        proliferative diabetic retinopathy + 77
paths to the root