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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 angiopathy
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Accession:DOID:11713 term browser browse the term
Definition:A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. (DO)
Synonyms:exact_synonym: Diabetic Microangiopathy;   diabetic angiopathies;   diabetic microangiopathies;   diabetic peripheral angiopathy;   diabetic vascular complication;   diabetic vascular complications;   diabetic vascular disease;   diabetic vascular diseases;   diabetic vascular disorder
 related_synonym: END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO;   MVCD1;   MVCD2;   MVCD3;   MVCD4;   MVCD5;   MVCD6;   MVCD7;   diabetic neuropathy, susceptibility to;   diabetic nonproliferative retinopathy, susceptibility to;   diabetic proliferative retinopathy, susceptibility to;   diabetic retinopathy, susceptibility to;   microvascular complications of diabetes, protection against;   microvascular complications of diabetes, susceptibility to;   microvascular complications of diabetes, susceptibility to, 1;   microvascular complications of diabetes, susceptibility to, 2;   microvascular complications of diabetes, susceptibility to, 3;   microvascular complications of diabetes, susceptibility to, 4;   microvascular complications of diabetes, susceptibility to, 5;   microvascular complications of diabetes, susceptibility to, 6;   microvascular complications of diabetes, susceptibility to, 7
 primary_id: MESH:D003925
 alt_id: DOID:10182;   OMIM:603933;   OMIM:612623;   OMIM:612624;   OMIM:612628;   OMIM:612633;   OMIM:612634;   OMIM:612635
 xref: ICD9CM:250.7;   NCI:C35610;   OMIM:PS603933
For additional species annotation, visit the Alliance of Genome Resources.



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diabetic angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO OMIM NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ADCY3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 3:113,875,005...113,969,053
Ensembl chr 3:113,875,512...113,988,372
JBrowse link
G ADCY8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 4:9,645,398...9,867,065
Ensembl chr 4:9,644,589...9,866,534
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20372816 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19733855 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25033204 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:15878326 RGD:7241570 NCBI chr 7:117,491,350...117,492,410
Ensembl chr 7:117,491,350...117,492,410
JBrowse link
G CASP3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23154660 RGD:11526153 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD28 CD28 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell RGD PMID:15504310 RGD:2307197 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,208...107,162,943
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum RGD PMID:14963650 RGD:2314223 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CREM cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr10:57,829,523...57,895,610
Ensembl chr10:57,829,518...57,895,610
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 susceptibility ISO associated with Diabetic Foot;DNA:polymorphism:3' utr (human) RGD PMID:16723689 RGD:2306558 NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,429...91,552,766
JBrowse link
G EPO erythropoietin ISO OMIM NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
protein:increased expression:plasma
RGD PMID:9285207 PMID:16371118 RGD:2313861 RGD:2313868 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
JBrowse link
G FAS Fas cell surface death receptor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:15803113 RGD:2315753 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD
RGD
PMID:15803113 PMID:25381014 RGD:2315753 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G FN1 fibronectin 1 ISO RGD PMID:12716757 RGD:1601179 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO RGD PMID:21411989 RGD:7242686 NCBI chr12:51,975,810...51,979,428
Ensembl chr12:51,975,874...51,977,757
JBrowse link
G GPX1 glutathione peroxidase 1 ISO cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood RGD PMID:16338763 RGD:1600708 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G GSR glutathione-disulfide reductase ISO cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood RGD PMID:16338763 RGD:1600708 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G HFE homeostatic iron regulator ISO OMIM NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16959961
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta
RGD PMID:18093596 PMID:18796303 RGD:2306988 RGD:2313473 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO DNA:SNPs RGD PMID:16306374 RGD:1625238 NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO OMIM
G MMP14 matrix metallopeptidase 14 ISO RGD PMID:12477149 RGD:1582581 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,174,500...76,185,923
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681562 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G NOS2 nitric oxide synthase 2 ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea RGD PMID:19241604 PMID:19587355 RGD:2313210 RGD:4891384 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea
CTD
RGD
PMID:12124201 PMID:19241604 PMID:29329611 RGD:13504708 RGD:4891384 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus RGD PMID:10329590 RGD:2311657 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PLAT plasminogen activator, tissue type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18945481 RGD:2311663 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO ClinVar PMID:11978667 NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943
JBrowse link
G PON1 paraoxonase 1 ISO OMIM NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PTK2B protein tyrosine kinase 2 beta treatment ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21926342 RGD:10041069 NCBI chr14:11,063,662...11,194,196
Ensembl chr14:11,064,492...11,194,194
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human) RGD PMID:9844142 RGD:8547700 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SERPINF1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G SOD1 superoxide dismutase 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:16338763 RGD:1600708 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SOD2 superoxide dismutase 2 ISO OMIM NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel RGD PMID:10625572 RGD:2300063 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,703...71,381,160
JBrowse link
G THBS1 thrombospondin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,781...131,746,115
JBrowse link
G THBS2 thrombospondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 1:854,473...882,467
Ensembl chr 1:855,030...882,473
JBrowse link
G TNF tumor necrosis factor susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human) RGD PMID:18575614 RGD:2313255 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VEGFA vascular endothelial growth factor A ISO OMIM NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
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 ISO RGD PMID:10848441 RGD:10046010 NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,438,017...62,485,537
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 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:decreased expression:aqueous humor: RGD PMID:23853629 RGD:10402120 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:decreased expression:vitreous: RGD PMID:19799585 RGD:10449447 Ensembl chr 5:8,986,461...9,007,446 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 OMIM NCBI chr 9:10,802,228...10,815,892
Ensembl chr 9:10,801,946...10,817,930
JBrowse link
Diabetic Foot 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 protein:decreased expression:plasma RGD PMID:20836881 RGD:5686889 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood RGD PMID:21941211 RGD:6767555 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G CRP C-reactive protein, pentraxin-related disease_progression ISO protein:increased expression:blood: RGD PMID:22712631 RGD:6906887 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G GJA1 gap junction protein alpha 1 ISO protein:increased expression:dermis RGD PMID:22455314 RGD:7207269 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:fibroblast of dermis,stratum basale of epidermis: RGD PMID:10727985 RGD:8549356 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IL15 interleukin 15 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell RGD PMID:17014667 RGD:2313575 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,307...85,740,911
JBrowse link
G MBL2 mannose binding lectin 2 ISO protein:increased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:22688339 RGD:8547813 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G PLAT plasminogen activator, tissue type ISO RGD PMID:17275886 RGD:2311669 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G PTX3 pentraxin 3 ISO protein:decreased expression:plasma (human) RGD PMID:30767386 RGD:38501100 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human); RGD PMID:23936790 RGD:7777174 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
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 (peptidyl-dipeptidase A) 1 susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human)
associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human)
associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human)
RGD PMID:2157294 PMID:7729604 PMID:11106834 PMID:23065222 RGD:7829780 RGD:7829783 RGD:7829794 RGD:8142360 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACE2 angiotensin converting enzyme 2 treatment ISO associated with Diabetes Mellitus, Experimental
human gene in a mouse model
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:21792177 PMID:31380462 RGD:40818278 RGD:8548900 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,099,853...12,151,275
JBrowse link
G ACP1 acid phosphatase 1 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12495297 RGD:2313184 NCBI chr 3:132,671,408...132,684,793
Ensembl chr 3:132,667,045...132,684,674
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing disease_progression ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human)
RGD PMID:17970779 PMID:24655058 RGD:8694412 RGD:8694475 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ADM adrenomedullin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:19216096 RGD:2313312 NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866
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 chr15:48,468,803...48,478,370 JBrowse link
G AGER advanced glycosylation end-product specific receptor susceptibility
treatment
severity
no_association
ISO 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;DNA:SNP:promoter:-374T>A (human)
associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human)
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:SNP:promoter:-374T>A, - 429T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human)
protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human)
RGD PMID:11375354 PMID:14704946 PMID:16969646 PMID:19542745 PMID:22116960 More... RGD:7244174 RGD:7244175 RGD:7244176 RGD:7244248 RGD:7244369 RGD:8695958 RGD:8695965 RGD:8695966 RGD:8695967 RGD:8695979 RGD:8695983 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AGT angiotensinogen treatment ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10862638 PMID:15387897 PMID:21792177 RGD:8548872 RGD:8548900 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16601577 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B susceptibility
no_association
ISO protein:increased expression:retinal astrocyte (rat)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human)
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human)
RGD PMID:8150024 PMID:16701918 PMID:17003340 PMID:19587357 PMID:21067572 RGD:1626080 RGD:8548640 RGD:8548668 RGD:8548676 RGD:8548684 NCBI chr18:14,593,516...14,752,316
Ensembl chr18:14,593,548...14,752,310
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819
G ANG angiogenin ISO associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,243,687...78,262,866
JBrowse link
G ANGPT1 angiopoietin 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:12000720 RGD:2313818 NCBI chr 4:29,925,203...30,233,434
Ensembl chr 4:29,933,135...30,233,960
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:retina (rat) RGD PMID:16520919 RGD:2314216 NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
JBrowse link
G APOA4 apolipoprotein A4 ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
JBrowse link
G APOB apolipoprotein B ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19448981 RGD:2313976 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOC3 apolipoprotein C3 severity ISO protein:increased expression:serum RGD PMID:15642486 RGD:2306768 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G APOE apolipoprotein E no_association
susceptibility
ISO DNA:polymorphism:exon:
associated with Diabetic Mellitus type 2;DNA:polymorphism:exon:
RGD PMID:11495633 PMID:16862278 RGD:7771553 RGD:7771557 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G APOH apolipoprotein H ISO protein:increased expression:vitreous humor RGD PMID:18695102 RGD:2313982 NCBI chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:22449442 RGD:8695996 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G BDKRB1 bradykinin receptor B1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:18311190 RGD:2313334 NCBI chr 7:117,491,350...117,492,410
Ensembl chr 7:117,491,350...117,492,410
JBrowse link
G BDNF brain derived neurotrophic factor ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: RGD PMID:15331553 RGD:8655657 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G CASP3 caspase 3 ISO associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
CTD
PMID:19013511 PMID:19187597 PMID:20654064 RGD:2311444 RGD:2311448 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
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 6:74,707,597...74,730,033
Ensembl chr 6:74,706,515...74,730,092
JBrowse link
G CAT catalase ISO protein:decreased expression:retina RGD PMID:21314438 RGD:5130875 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina (rat) RGD PMID:23010641 RGD:8548887 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL5 C-C motif chemokine ligand 5 severity ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
protein:increased expression:serum
RGD PMID:16249511 PMID:18978347 RGD:2307061 RGD:2307104 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 ISO associated with Diabetes Mellitus, Experimental RGD PMID:22677420 RGD:8551828 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CD34 CD34 molecule ISO mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 9:134,912,793...134,937,763
Ensembl chr 9:134,913,121...134,937,762
JBrowse link
G CD59 CD59 molecule ISO protein:decreased expression:retina RGD PMID:12453906 RGD:1600487 NCBI chr 2:27,186,587...27,207,303 JBrowse link
G CFB complement factor B no_association ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human)
RGD PMID:23864767 RGD:7365019 NCBI chr 7:24,034,077...24,040,523 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:23296223 PMID:23864767 RGD:7365019 RGD:7365023
G CLDN1 claudin 1 treatment ISO RGD PMID:25685822 RGD:11341734 NCBI chr13:127,714,857...127,730,628
Ensembl chr13:127,712,767...127,730,657
JBrowse link
G CLU clusterin treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19875648 RGD:9068395 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20012460 RGD:8547537 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO RGD PMID:17194635 RGD:2311361 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 severity ISO protein:increased expression:vitreous humor RGD PMID:15630447 RGD:2306559 NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,429...91,552,766
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO associated with Diabetes Mellitus, Experimental RGD PMID:19685553 RGD:2317854 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,154...1,021,418
JBrowse link
G EDN1 endothelin 1 ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma
mRNA:increased expression:retina (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human)
RGD PMID:18806884 PMID:19293263 PMID:20628425 RGD:2313279 RGD:2313281 RGD:9068929 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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:10059675 RGD:1580957 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G ELN elastin ISO RGD PMID:11707314 RGD:9585734 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
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 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G EP300 E1A binding protein p300 ISO associated with Diabetes Mellitus, Experimental RGD PMID:21885871 RGD:7349382 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G EPO erythropoietin susceptibility ISO associated with Diabetes Mellitus, Experimental
protein:increased expression:serum,vitreous body
DNA:snp:promoter:-1125T>G(rs1617640)(human)
RGD PMID:18235022 PMID:18458324 PMID:18670462 PMID:24508793 RGD:10400906 RGD:2313837 RGD:2313838 RGD:2313890 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G F13A1 coagulation factor XIII A chain ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr 7:3,751,290...3,900,797
Ensembl chr 7:3,751,291...3,900,765
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:aqueous humor,serum RGD PMID:12417540 RGD:2313865 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
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 chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
JBrowse link
G FGF2 fibroblast growth factor 2 ISO DNA:polymorphism:promotor:g.-553T>A(human)
associated with Pregnancy in Diabetics
associated with Diabetes Mellitus, Experimental
DNA:polymorphism:intron:g.754C>G(human)
RGD PMID:9141532 PMID:14975211 PMID:17997184 PMID:18279437 RGD:2315844 RGD:2315845 RGD:2315875 RGD:2315885 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:17143550 PMID:18174522 RGD:10402119 RGD:2313721 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
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 6:81,638,213...81,655,993
Ensembl chr 6:81,637,989...81,723,231
JBrowse link
G GAD2 glutamate decarboxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21412422 NCBI chr10:49,316,682...49,391,013
Ensembl chr10:49,313,641...49,390,926
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO associated with Diabetes Mellitus, Experimental RGD PMID:18852331 RGD:2315975 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,680...64,133,991
JBrowse link
G GC GC vitamin D binding protein ISO protein:increased expression:vitreous body RGD PMID:16080911 RGD:2315548 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,301...68,360,262
JBrowse link
G GLO1 glyoxalase I ISO DNA:SNP:promoter:-7C>T (human) RGD PMID:21738003 RGD:7242569 NCBI chr 7:34,156,194...34,183,560
Ensembl chr 7:34,068,806...34,183,528
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 chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G HGF hepatocyte growth factor disease_progression ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum RGD PMID:15525877 PMID:18335393 RGD:2313565 RGD:8548539 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment
severity
ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat)
protein:increased expression:retina, vascular endothelial cell (human)
RGD PMID:17229797 PMID:20515763 PMID:22110070 RGD:7364887 RGD:8694462 RGD:8696025 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO RGD PMID:14988264 RGD:1358731 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO CTD Direct Evidence: therapeutic
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human)
CTD
RGD
PMID:10485912 PMID:18834676 PMID:18942221 PMID:25066112 RGD:11354984 RGD:2313471 RGD:2313472 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF1R insulin like growth factor 1 receptor disease_progression ISO mRNA:increased expression:retina: RGD PMID:12781065 RGD:10046008 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IL10 interleukin 10 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
associated with Diabetes Mellitus, Type 2
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
RGD PMID:16696964 PMID:18978347 PMID:18988929 PMID:22105495 RGD:1598486 RGD:2307061 RGD:2307272 RGD:7364856 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL18 interleukin 18 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:16260350 PMID:19011009 RGD:4889417 RGD:8655907 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
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 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL6 interleukin 6 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
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:
RGD PMID:17725274 PMID:18988929 PMID:19140096 PMID:19542902 RGD:2307267 RGD:2307272 RGD:7829749 RGD:7829816 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22046295 PMID:30463601 RGD:6902909 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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:intron:IVS8-1059T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human)
RGD PMID:12540964 PMID:18806884 PMID:21632096 PMID:23776381 RGD:2307419 RGD:2313281 RGD:7777103 RGD:8686431 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19553613 RGD:9698417 NCBI chr15:86,942,054...87,028,428
Ensembl chr15:86,947,021...87,029,777
JBrowse link
G ITGB3 integrin subunit beta 3 ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,505...16,752,292
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 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,407
JBrowse link
G KDM1A lysine demethylase 1A ISO mRNA:increased expression:retina (human)
mRNA, protein:increased expression:retina (rat)
RGD PMID:23423566 RGD:8547881 NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,496...80,971,595
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 chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,297,835
JBrowse link
G LOC100157117 kallistatin ISO protein:decreased expression:vitreous fluid (human) RGD PMID:8950506 RGD:1580289 NCBI chr 7:115,781,772...115,792,469
Ensembl chr 7:115,783,931...115,792,466
JBrowse link
G LOC110256000 membrane primary amine oxidase-like ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:11522499 RGD:2313826 NCBI chr12:19,996,324...20,007,006 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:serum, vitreous humour
associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor
RGD PMID:16284605 PMID:18978347 RGD:2307061 RGD:7401212
G LTA lymphotoxin alpha susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;DNA:polymorphism:
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human)
RGD PMID:11399938 PMID:16979413 RGD:8548772 RGD:8548797 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
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 6:72,026,512...72,056,439
Ensembl chr 6:72,026,722...72,056,439
JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:12714657 PMID:18552985 RGD:1582582 RGD:8547849 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO associated with Diabetes Mellitus, Type 2
associated with Diabetes Mellitus, Experimental
RGD PMID:10374894 PMID:16643893 PMID:21933988 RGD:1582616 RGD:8547815 RGD:8547857 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
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 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
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 6:153,755,209...153,798,412
Ensembl chr 6:153,756,181...153,795,535
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 chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NGF nerve growth factor ISO protein:increased expression:serum RGD PMID:18282491 RGD:7242804 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,417...105,307,842
JBrowse link
G NOS1 nitric oxide synthase 1 ISO mRNA, protein:decreased expression:retina RGD PMID:17545029 RGD:1642141 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G NOS3 nitric oxide synthase 3 no_association
onset
treatment
severity
susceptibility
ISO associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human)
associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human)
DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human)
associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina (rat)
associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human)
RGD PMID:11918626 PMID:15890549 PMID:16581274 PMID:17558849 PMID:17973941 More... RGD:7421531 RGD:7421532 RGD:7421533 RGD:7771565 RGD:7771568 RGD:7771569 RGD:7771606 RGD:7775042 RGD:7777101 RGD:7777103 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NPPA natriuretic peptide A ISO protein:increased expression:vitreous humor RGD PMID:15273657 RGD:2313589 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G NPR3 natriuretic peptide receptor 3 ISO mRNA:decreased expression:retina (rat) RGD PMID:15789000 RGD:1580773 NCBI chr16:18,841,540...18,929,813
Ensembl chr16:18,842,039...18,929,813
JBrowse link
G NUTF2 nuclear transport factor 2 treatment ISO mRNA:decreased expression:peripheral blood: RGD PMID:19404486 RGD:9831377 NCBI chr 6:28,469,274...28,489,007
Ensembl chr 6:28,469,505...28,489,007
JBrowse link
G OCLN occludin treatment ISO RGD PMID:25685822 RGD:11341734 NCBI chr16:47,600,175...47,652,435
Ensembl chr16:47,600,498...47,654,033
JBrowse link
G PGF placental growth factor ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21408222 RGD:6483775 NCBI chr 7:98,149,510...98,162,784 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 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G PON1 paraoxonase 1 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)
associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human)
associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:g.-907C>G (human)
RGD
CTD
PMID:9661650 PMID:15270786 PMID:16949520 PMID:20012460 PMID:24100645 RGD:2313272 RGD:8547537 RGD:8547548 RGD:8547572 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO Retinal Leukostasis;associated with Diabetes Mellitus, Experimental RGD PMID:17003451 RGD:8552824 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
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:5686899 RGD:6484532 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G PTEN phosphatase and tensin homolog ISO mRNA, protein:decreased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr14:99,929,590...100,021,619 JBrowse link
G RETN resistin ISO associated with Diabetes Mellitus, Type 2 RGD PMID:17303077 RGD:7207162 NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
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 1;protein:increased expression:plasma (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)
RGD PMID:7974340 PMID:9201602 PMID:12660488 PMID:19419896 PMID:23281898 RGD:8547697 RGD:8547699 RGD:8547710 RGD:8547740 RGD:8547741 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SERPINF1 serpin family F member 1 severity ISO 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:vitreous humor
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina
RGD PMID:15059706 PMID:16054135 PMID:17658465 PMID:18025835 PMID:18455830 More... RGD:1580135 RGD:2312337 RGD:2312341 RGD:2312344 RGD:2312346 RGD:2312348 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
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 3:18,354,798...18,387,930
Ensembl chr 3:18,354,798...18,387,858
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894401 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,157...71,123,299
JBrowse link
G SOD1 superoxide dismutase 1 ISO human gene in a mouse model
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:19074809 RGD:8655572 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SOD3 superoxide dismutase 3 ISO RGD PMID:12663605 RGD:1581298 NCBI chr 8:18,796,633...18,802,156
Ensembl chr 8:18,796,636...18,802,154
JBrowse link
G THBS1 thrombospondin 1 ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental
CTD
RGD
PMID:17117553 RGD:2317943 NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,781...131,746,115
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 chr 2:71,271,778...71,287,795
Ensembl chr 2:71,271,796...71,290,546
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 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNF tumor necrosis factor disease_progression
no_association
ISO associated with Diabetes Mellitus, Type 2
protein:increased expression:serum, vitreous humour
associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet:
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human)
RGD PMID:10540181 PMID:16284605 PMID:16979413 PMID:22105495 RGD:7364856 RGD:7394805 RGD:7401212 RGD:8548772 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 6:68,552,889...68,560,827
Ensembl chr 6:68,552,887...68,559,687
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 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VDR vitamin D receptor ISO RGD PMID:15899948 RGD:1580363 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA, protein:increased expression:retina
associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9852717 PMID:11978667 PMID:15788408 PMID:16636650 PMID:17513698 More... RGD:1580565 RGD:2301992 RGD:41410819 RGD:8547996 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VTN vitronectin ISO associated with Diabetes Mellitus, Experimental RGD PMID:7536680 PMID:8804356 RGD:10040982 RGD:1580818 NCBI chr12:44,650,532...44,653,916
Ensembl chr12:44,617,499...44,660,271
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:10077454 RGD:1580648 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
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 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:aqueous humor RGD PMID:22563689 RGD:8694466 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:vitreous humor RGD PMID:16364297 RGD:8695978 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
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 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCL2 chemokine (C-C motif) 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:21850157 PMID:23549806 RGD:8548851 RGD:8549477 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 disease_progression ISO protein:decreased expression:vitreous: RGD PMID:22864860 RGD:9685437 NCBI chr 4:19,319,815...19,433,492
Ensembl chr 4:19,180,234...19,433,492
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:vitreous: RGD PMID:22868384 RGD:10402118 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
JBrowse link
G IL6R interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:17401618 RGD:10402814 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,426...95,381,282
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:increased expression:vitreous: RGD PMID:19799585 RGD:10449447 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PPARG peroxisome proliferator activated receptor gamma susceptibility
onset
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:8552820 RGD:8699508 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
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 chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO protein:increased expression:vitreous fluid (human) RGD PMID:11723044 PMID:15059706 RGD:1580135 RGD:8554895 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
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 chr17:46,119,612...46,122,540
Ensembl chr17:46,119,409...46,173,944
JBrowse link
G TIMM44 translocase of inner mitochondrial membrane 44 ISO mRNA:decreased expression:retina RGD PMID:22003103 RGD:13463597 NCBI chr 2:71,271,778...71,287,795
Ensembl chr 2:71,271,796...71,290,546
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 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13702
    disease of anatomical entity 13375
      endocrine system disease 5042
        diabetes mellitus 1120
          Diabetes Complications 380
            diabetic angiopathy 151
              Diabetic Foot 11
              diabetic retinopathy + 120
Path 2
Term Annotations click to browse term
  disease 13702
    Nutritional and Metabolic Diseases 4435
      disease of metabolism 4435
        acquired metabolic disease 2207
          carbohydrate metabolism disease 1246
            glucose metabolism disease 1246
              diabetes mellitus 1120
                Diabetes Complications 380
                  diabetic angiopathy 151
                    Diabetic Foot 11
                    diabetic retinopathy + 120
paths to the root