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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;   SUPEROXIDE DISMUTASE 2 POLYMORPHISM;   diabetic neuropathy, susceptibility to;   diabetic nonproliferative retinopathy, susceptibility to;   diabetic proliferative retinopathy, susceptibility to;   diabetic retinopathy, susceptibility to;   macrovascular complications of diabetes;   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: EFO:0010977;   EFO:1000896;   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 ISO ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 3
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 More... NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Adcy3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr12:4,183,397...4,263,525
Ensembl chr12:4,183,103...4,263,525
JBrowse link
G Adcy8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr15:64,570,884...64,794,145
Ensembl chr15:64,568,933...64,794,145
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20372816 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19733855 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25033204 NCBI chr 2:31,360,282...31,410,682
Ensembl chr 2:31,360,219...31,410,684
JBrowse link
G Bdkrb1 bradykinin receptor, beta 1 ISO RGD PMID:15878326 RGD:7241570 NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:23154660 RGD:11526153 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Cd28 CD28 antigen ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell RGD PMID:15504310 RGD:2307197 NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:14963650 RGD:2314223 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402
JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr18:3,263,181...3,337,688
Ensembl chr18:3,266,048...3,337,748
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 chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2
OMIM
CTD
ClinVar
PMID:18458324 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
JBrowse link
G F3 coagulation factor III ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
protein:increased expression:plasma
RGD PMID:16371118 PMID:9285207 RGD:2313861, RGD:2313868 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
JBrowse link
G Fas Fas cell surface death receptor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:15803113 RGD:2315753 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Fasl Fas ligand ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25381014 PMID:15803113 RGD:2315753 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
JBrowse link
G Fn1 fibronectin 1 ISO RGD PMID:12716757 RGD:1601179 NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO associated with type 2 diabetes mellitus;DNA:SNV: :C59038T (human) RGD PMID:19515581 RGD:329961327 NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870
JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide ISO RGD PMID:21411989 RGD:7242686 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO cardiovascular complications in type 2 diabetics RGD PMID:16338763 RGD:1600708 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
JBrowse link
G Gsr glutathione reductase ISO cardiovascular complications in type 2 diabetics RGD PMID:16338763 RGD:1600708 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO associated with Diabetes Mellitus Type 1;DNA:polymorphism: :HLA-DRB1*03:01(human) RGD PMID:23376458 RGD:7365114 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7 ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16959961 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP
ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta RGD PMID:18093596 PMID:18796303 RGD:2306988, RGD:2313473 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO DNA:SNPs RGD PMID:16306374 RGD:1625238 NCBI chr11:7,147,787...7,152,546
Ensembl chr11:7,147,782...7,152,546
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 4
OMIM
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Itgam integrin alpha M ISO protein:increased expression:neutrophil (human) RGD PMID:18496641 RGD:329901826 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO RGD PMID:12477149 RGD:1582581 NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681562 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea RGD PMID:19241604 PMID:19587355 RGD:4891384, RGD:2313210 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell treatment ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12124201 PMID:19241604 PMID:29329611 RGD:4891384, RGD:13504708 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 IEP associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus RGD PMID:10329590 RGD:2311657 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
JBrowse link
G Plat plasminogen activator, tissue ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18945481 RGD:2311663 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 ClinVar PMID:11978667 NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980
JBrowse link
G Pon1 paraoxonase 1 ISO associated with Diabetes Mellitus;DNA:polymorphisms: p.L55M, p.Q192R (human)
ClinVar Annotator: match by term: RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9011577 PMID:9661650 PMID:11335891 PMID:11788650 PMID:11889198 More... RGD:2313270 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Ptk2b PTK2 protein tyrosine kinase 2 beta treatment ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21926342 RGD:10041069 NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501
JBrowse link
G Rbp4 retinol binding protein 4, plasma disease_progression ISO protein:increased expression:blood serum (human) RGD PMID:33294897 RGD:329853310 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade 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 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:16338763 RGD:1600708 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SUPEROXIDE DISMUTASE 2 POLYMORPHISM
OMIM
CTD
ClinVar
PMID:8633092 PMID:10425186 PMID:12624725 PMID:15591282 PMID:16538174 More... NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
JBrowse link
G Sparc secreted acidic cysteine rich glycoprotein ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel RGD PMID:10625572 RGD:2300063 NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009
JBrowse link
G Thbs1 thrombospondin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614
JBrowse link
G Thbs2 thrombospondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr17:14,885,762...14,914,524
Ensembl chr17:14,885,762...14,914,497
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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:cochlea:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1
CTD
OMIM
ClinVar
RGD
PMID:11978667 PMID:19241604 RGD:4891384 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186
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 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:decreased expression:aqueous humor: RGD PMID:23853629 RGD:10402120 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
JBrowse link
G Map3k8 mitogen-activated protein kinase kinase kinase 8 ISO protein:increased activity:serum: RGD PMID:28724746 RGD:151356966 NCBI chr18:4,331,325...4,352,978
Ensembl chr18:4,331,327...4,353,015
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO protein:decreased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay OMIM
ClinVar
PMID:25741868 PMID:30976112 NCBI chr 7:98,138,515...98,151,038
Ensembl chr 7:98,138,490...98,151,388
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 chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
JBrowse link
G Crp C-reactive protein, pentraxin-related disease_progression ISO protein:increased expression:blood: RGD PMID:22712631 RGD:6906887 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO protein:increased expression:dermis RGD PMID:22455314 RGD:7207269 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
JBrowse link
G H19 H19, imprinted maternally expressed transcript ameliorates ISO
IMP
RNA:increased expression:foot (human) RGD PMID:33174326 PMID:33174326 RGD:156451663, RGD:156451663 NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,131,917
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO mRNA,protein:decreased expression:blood serum, foot (human) RGD PMID:34293021 RGD:155260332 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
JBrowse link
G Hspa1b heat shock protein 1B severity ISO DNA:polymorphism: :1538G>A (human) RGD PMID:19731315 RGD:8662463 NCBI chr17:35,175,405...35,178,214
Ensembl chr17:35,175,412...35,178,214
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 chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
JBrowse link
G Itgam integrin alpha M ISO protein:increased expression:pes (human) RGD PMID:37087778 RGD:329853756 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO protein:increased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
G Mir17 microRNA 17 ISO RGD PMID:36333728 RGD:329349308 NCBI chr14:115,281,103...115,281,186
Ensembl chr14:115,281,103...115,281,186
JBrowse link
G Mir210 microRNA 210 ISO miRNA:increased expression:blood serum, foot (human) RGD PMID:34293021 RGD:155260332 NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:22688339 RGD:8547813 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Notch1 notch 1 ISO protein:increased expression:skin, epidermis: RGD PMID:30886104 RGD:155646129 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
JBrowse link
G Plat plasminogen activator, tissue ISO RGD PMID:17275886 RGD:2311669 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
JBrowse link
G Ptx3 pentraxin related gene ISO protein:decreased expression:plasma (human) RGD PMID:30767386 RGD:38501100 NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
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 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human)
associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human)
associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human)
GAD
RGD
PMID:15118671 PMID:2157294 PMID:23065222 PMID:7729604 PMID:11106834 RGD:1331525, RGD:8142360, RGD:7829794, RGD:7829780, RGD:7829783 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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
CTD
RGD
PMID:31380462 PMID:21792177 PMID:31380462 RGD:8548900, RGD:40818278 NCBI chr  X:162,922,338...162,971,414
Ensembl chr  X:162,922,328...162,971,416
JBrowse link
G Acp1 acid phosphatase 1, soluble ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12495297 RGD:2313184 NCBI chr12:30,943,325...30,961,616
Ensembl chr12:30,943,325...30,961,588
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
RGD PMID:24655058 PMID:17970779 RGD:8694412, RGD:8694475 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
JBrowse link
G Adm adrenomedullin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:19216096 RGD:2313312 NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
JBrowse link
G Adrb3 adrenergic receptor, beta 3 ISO associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:9313761 RGD:5684400 NCBI chr 8:27,715,804...27,720,833
Ensembl chr 8:27,715,804...27,740,644
JBrowse link
G Ager advanced glycosylation end product-specific receptor no_association
treatment
severity
susceptibility
ISO
IMP
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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
JBrowse link
G Agt angiotensinogen treatment ISO
IMP
associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental
CTD
RGD
PMID:15387897 PMID:10862638 PMID:21792177 RGD:8548872, RGD:8548900 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16601577 NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B no_association
susceptibility
ISO associated with Diabetes Mellitus, Experimental
protein:increased expression:retinal astrocyte (rat)
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human)
associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human)
RGD PMID:17003340 PMID:8150024 PMID:21067572 PMID:16701918 PMID:19587357 RGD:1626080, RGD:8548684, RGD:8548676, RGD:8548668, RGD:8548640 NCBI chr 6:34,280,865...34,294,424
Ensembl chr 6:34,279,369...34,294,413
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G Ang angiogenin, ribonuclease, RNase A family, 5 ISO associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
JBrowse link
G Angpt1 angiopoietin 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:12000720 RGD:2313818 NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373
JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:retina (rat) RGD PMID:16520919 RGD:2314216 NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:11522499 RGD:2313826 NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764
JBrowse link
G Apoa4 apolipoprotein A-IV ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
JBrowse link
G Apob apolipoprotein B ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19448981 RGD:2313976 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Apoc3 apolipoprotein C-III severity ISO protein:increased expression:serum RGD PMID:15642486 RGD:2306768 NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
JBrowse link
G Apoe apolipoprotein E susceptibility
no_association
ISO associated with Diabetic Mellitus type 2;DNA:polymorphism:exon: RGD PMID:16862278 PMID:11495633 RGD:7771557, RGD:7771553 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
G Apoh apolipoprotein H ISO protein:increased expression:vitreous humor RGD PMID:18695102 RGD:2313982 NCBI chr11:108,286,123...108,305,222
Ensembl chr11:108,234,180...108,305,222
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:22449442 RGD:8695996 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
JBrowse link
G Bdkrb1 bradykinin receptor, beta 1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:18311190 RGD:2313334 NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
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 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
JBrowse link
G Casp3 caspase 3 IDA
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina
CTD
RGD
PMID:20654064 PMID:19013511 PMID:19187597 RGD:2311448, RGD:2311444 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
JBrowse link
G Cat catalase ISO protein:decreased expression:retina RGD PMID:21314438 RGD:5130875 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 severity ISO protein:increased expression:serum
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
RGD PMID:16249511 PMID:18978347 RGD:2307104, RGD:2307061 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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 chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IEP associated with Diabetes Mellitus, Experimental RGD PMID:22677420 RGD:8551828 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
JBrowse link
G Cd34 CD34 antigen ISO mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 1:194,621,239...194,643,587
Ensembl chr 1:194,621,127...194,643,587
JBrowse link
G Cd59a CD59a antigen ISO protein:decreased expression:retina RGD PMID:12453906 RGD:1600487 NCBI chr 2:103,926,177...103,945,755
Ensembl chr 2:103,926,146...103,945,699
JBrowse link
G Cd59b CD59b antigen ISO protein:decreased expression:retina RGD PMID:12453906 RGD:1600487 NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534
JBrowse link
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 disease_progression ISO DNA:SNP:intron: (rs7756992) (human) RGD PMID:28821857 RGD:401850599 NCBI chr13:29,375,729...30,039,665
Ensembl chr13:29,375,729...30,039,657
JBrowse link
G Cfb complement factor B no_association ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human)
RGD PMID:23864767 PMID:23864767 RGD:7365019, RGD:7365019 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
JBrowse link
G Cfh complement component factor h ISO associated with Diabetes Mellitus, Type 2; DNA:SNP: :rs800292(human)
associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human)
RGD PMID:23864767 PMID:23296223 RGD:7365019, RGD:7365023 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
JBrowse link
G Cldn1 claudin 1 treatment ISO RGD PMID:25685822 RGD:11341734 NCBI chr16:26,175,395...26,190,589
Ensembl chr16:26,175,392...26,190,591
JBrowse link
G Clu clusterin treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19875648 RGD:9068395 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20012460 PMID:20012460 RGD:8547537 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:17194635 RGD:2311361 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 severity ISO protein:increased expression:vitreous humor RGD PMID:15630447 RGD:2306559 NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO associated with Diabetes Mellitus, Experimental RGD PMID:19685553 RGD:2317854 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
JBrowse link
G Dll4 delta like canonical Notch ligand 4 severity IEP
ISO
mRNA,protein:increased expression:retina: RGD PMID:30787185 PMID:34362349 RGD:155663348, RGD:155663356 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
JBrowse link
G Edn1 endothelin 1 ISO 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 chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
JBrowse link
G Egfr epidermal growth factor receptor treatment ISO
IMP
protein:increased expression:retina
associated with Diabetes Mellitus, Experimental
RGD PMID:7947554 PMID:23831329 RGD:1580957, RGD:10059675 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
JBrowse link
G Eln elastin ISO RGD PMID:11707314 RGD:9585734 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177
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 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
JBrowse link
G Ep300 E1A binding protein p300 ISO associated with Diabetes Mellitus, Experimental RGD PMID:21885871 RGD:7349382 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
JBrowse link
G Epo erythropoietin susceptibility ISO protein:increased expression:serum,vitreous body
associated with Diabetes Mellitus, Experimental
DNA:snp:promoter:-1125T>G(rs1617640)(human)
RGD PMID:18670462 PMID:24508793 PMID:18235022 PMID:18458324 RGD:2313837, RGD:10400906, RGD:2313890, RGD:2313838 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
JBrowse link
G F13a1 coagulation factor XIII, A1 subunit ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220
JBrowse link
G F3 coagulation factor III ISO protein:increased expression:aqueous humor,serum RGD PMID:12417540 RGD:2313865 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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 chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Pregnancy in Diabetics
DNA:polymorphism:intron:g.754C>G(human)
DNA:polymorphism:promotor:g.-553T>A(human)
associated with Diabetes Mellitus, Experimental
RGD PMID:9141532 PMID:17997184 PMID:18279437 PMID:14975211 RGD:2315885, RGD:2315845, RGD:2315844, RGD:2315875 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 treatment ISO RGD PMID:17143550 PMID:18174522 RGD:2313721, RGD:10402119 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
JBrowse link
G Fuca1 fucosidase, alpha-L- 1, tissue ISO associated with Diabetes Mellitus, Experimental;protein:increased activity:retina RGD PMID:10353622 RGD:2315932 NCBI chr 4:135,648,037...135,667,611
Ensembl chr 4:135,648,046...135,667,622
JBrowse link
G Gad2 glutamic acid decarboxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21412422 NCBI chr 2:22,512,262...22,583,889
Ensembl chr 2:22,512,217...22,583,886
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO associated with Diabetes Mellitus, Experimental RGD PMID:18852331 RGD:2315975 NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430
JBrowse link
G Gc vitamin D binding protein ISO protein:increased expression:vitreous body RGD PMID:16080911 RGD:2315548 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum RGD PMID:11311965 RGD:2315614 NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034
JBrowse link
G Gh growth hormone ISO RGD PMID:3183302 RGD:2315688 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691
JBrowse link
G Glo1 glyoxalase 1 no_association ISO DNA:SNP:promoter:-7C>T (human) RGD PMID:21738003 PMID:21738003 RGD:7242569, RGD:7242569 NCBI chr17:30,811,835...30,831,633
Ensembl chr17:30,803,910...30,845,845
JBrowse link
G Glul glutamate-ammonia ligase treatment ISO associated with Experimental Diabetes Mellitus RGD PMID:34133251 RGD:401794594 NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human) RGD PMID:19752172 RGD:7495818 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 disease_progression
no_association
ISO associated with Diabetes Mellitus, Type 2;DNA:deletion:cds (human)
associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human)
RGD PMID:15927971 PMID:19752172 RGD:2306630, RGD:7495818 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility
severity
ISO associated with Diabetes Mellitus, Type 1;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0501, HLA-DQB1*0504 (human)
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0201, HLA-DQB1*0302 (human)
RGD PMID:19551681 PMID:8932997 RGD:7421552, RGD:7483573 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO associated with Diabetes Mellitus Type 1;DNA:polymorphism::DRB1*0301,DRB1*0402(human) RGD PMID:23837223 RGD:7365113 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human) RGD PMID:22981956 RGD:7365095 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 susceptibility ISO associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human) RGD PMID:22981956 RGD:7365095 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
JBrowse link
G Hes1 hes family bHLH transcription factor 1 IEP mRNA:increased expression:retina: RGD PMID:30787185 RGD:155663348 NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614
JBrowse link
G Hey2 hairy/enhancer-of-split related with YRPW motif 2 IEP mRNA:increased expression:retina: RGD PMID:30787185 RGD:155663348 NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797
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 chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum RGD PMID:18335393 PMID:15525877 RGD:2313565, RGD:8548539 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit severity
treatment
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 chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO RGD PMID:14988264 RGD:1358731 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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:25066112 PMID:18942221 RGD:2313472, RGD:11354984, RGD:2313471 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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 chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
JBrowse link
G Igf1r insulin-like growth factor I receptor disease_progression ISO mRNA:increased expression:retina: RGD PMID:12781065 RGD:10046008 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
associated with Diabetes Mellitus, Type 2
RGD PMID:18978347 PMID:22105495 PMID:18988929 PMID:16696964 RGD:2307061, RGD:7364856, RGD:2307272, RGD:1598486 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il18 interleukin 18 IDA
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:19011009 PMID:16260350 RGD:4889417, RGD:8655907 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
JBrowse link
G Il1b interleukin 1 beta ISO associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor
protein:increased expression:serum, vitreous humour
RGD PMID:18978347 PMID:16284605 RGD:2307061, RGD:7401212 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il6 interleukin 6 susceptibility ISO associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human)
associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human)
associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum:
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
RGD PMID:19140096 PMID:19542902 PMID:17725274 PMID:18988929 RGD:2307267, RGD:7829816, RGD:7829749, RGD:2307272 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Ins2 insulin II ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30463601 PMID:22046295 RGD:6902909 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
JBrowse link
G Insr insulin receptor IAGP MouseDO NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
JBrowse link
G Itga2 integrin alpha 2 severity
no_association
susceptibility
ISO associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human)
RGD PMID:12540964 PMID:21632096 PMID:18806884 PMID:23776381 RGD:2307419, RGD:8686431, RGD:2313281, RGD:7777103 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636
JBrowse link
G Itga4 integrin alpha 4 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19553613 RGD:9698417 NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467
JBrowse link
G Itgam integrin alpha M ISO mRNA, protein:increased expression:retina (rat) RGD PMID:33614447 RGD:329901937 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
JBrowse link
G Itgb3 integrin beta 3 ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
JBrowse link
G Jag1 jagged 1 IEP mRNA,protein:increased expression:retina: RGD PMID:30787185 RGD:155663348 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
JBrowse link
G Kdm1a lysine (K)-specific demethylase 1A ISO
IMP
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 4:136,277,844...136,330,127
Ensembl chr 4:136,277,851...136,330,034
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 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657
JBrowse link
G Lta lymphotoxin A no_association
susceptibility
ISO associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human) RGD PMID:16979413 PMID:11399938 RGD:8548772, RGD:8548797 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
JBrowse link
G Mesp1 mesoderm posterior 1 ISO associated with type 2 diabetes mellitus;DNA:increased expression:plasma (human) RGD PMID:33221518 RGD:242905212 NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536
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 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
JBrowse link
G Mir126b microRNA 126b ameliorates ISO RNA:decreased expression:serum,retina RGD PMID:33416109 PMID:33416109 RGD:401850543, RGD:401850543 NCBI chr 2:26,481,375...26,481,432
Ensembl chr 2:26,481,375...26,481,432
JBrowse link
G Mir17 microRNA 17 treatment IEP RGD PMID:33333415 RGD:329349303 NCBI chr14:115,281,103...115,281,186
Ensembl chr14:115,281,103...115,281,186
JBrowse link
G Mir21a microRNA 21a ISO RNA:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
JBrowse link
G Mir320 microRNA 320 ISO miRNA:decreased expression:blood plasma (human) RGD PMID:32178730 RGD:155882566 NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:12714657 PMID:18552985 RGD:1582582, RGD:8547849 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO
IMP
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2
RGD PMID:16643893 PMID:21933988 PMID:10374894 RGD:1582616, RGD:8547857, RGD:8547815 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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 4:94,830,274...94,867,392
Ensembl chr 4:94,830,277...94,867,337
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina RGD PMID:23633659 RGD:10412733 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum
associated with Experimental Diabetes Mellitus
RGD PMID:18282491 PMID:24030532 RGD:7242804, RGD:405100241 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
JBrowse link
G Nos1 nitric oxide synthase 1, neuronal ISO mRNA, protein:decreased expression:retina RGD PMID:17545029 RGD:1642141 NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell no_association
susceptibility
treatment
severity
onset
ISO
IMP
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 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
JBrowse link
G Notch1 notch 1 treatment IMP RGD PMID:30787185 RGD:155663348 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
JBrowse link
G Nppa natriuretic peptide type A ISO protein:increased expression:vitreous humor RGD PMID:15273657 RGD:2313589 NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
JBrowse link
G Npr3 natriuretic peptide receptor 3 ISO mRNA:decreased expression:retina (rat) RGD PMID:15789000 RGD:1580773 NCBI chr15:11,839,982...11,907,287
Ensembl chr15:11,839,982...11,907,373
JBrowse link
G Nrp1 neuropilin 1 treatment IMP RGD PMID:26554379 RGD:401901170 NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844
JBrowse link
G Nutf2 nuclear transport factor 2 treatment ISO mRNA:decreased expression:peripheral blood: RGD PMID:19404486 PMID:19404486 RGD:9831377, RGD:9831377 NCBI chr 8:106,587,165...106,607,034
Ensembl chr 8:106,587,212...106,605,962
JBrowse link
G Ocln occludin treatment ISO RGD PMID:25685822 RGD:11341734 NCBI chr13:100,633,012...100,689,226
Ensembl chr13:100,633,015...100,689,226
JBrowse link
G Pf4 platelet factor 4 ISO protein:increased expression:retina RGD PMID:23352833 RGD:329901846 NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242
JBrowse link
G Pgf placental growth factor ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21408222 RGD:6483775 NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
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 chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
JBrowse link
G Plk4 polo like kinase 4 treatment ISO RGD PMID:33416109 RGD:401850543 NCBI chr 3:40,754,463...40,771,318
Ensembl chr 3:40,754,454...40,771,318
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:polymorphism:promoter:g.-907C>G (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human)
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)
associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human)
CTD
RGD
PMID:9661650 PMID:20012460 PMID:16949520 PMID:24100645 PMID:15270786 More... RGD:2313272, RGD:8547572, RGD:8547548, RGD:8547537 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma IMP Retinal Leukostasis;associated with Diabetes Mellitus, Experimental RGD PMID:17003451 RGD:8552824 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, 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 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
JBrowse link
G Pten phosphatase and tensin homolog ISO mRNA, protein:decreased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Rbp4 retinol binding protein 4, plasma severity ISO protein:increased expression:blood plasma (human) RGD PMID:30135138 RGD:329849110 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
JBrowse link
G Retn resistin ISO associated with Diabetes Mellitus, Type 2 RGD PMID:17303077 RGD:7207162 NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO mRNA,protein:increased expression:retina RGD PMID:28973045 RGD:243048421 NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983
JBrowse link
G Serpina3k serine (or cysteine) peptidase inhibitor, clade A, member 3K EXP CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chr12:104,304,745...104,311,998
Ensembl chr12:104,304,745...104,312,403
JBrowse link
G Serpina4-ps1 serine (or cysteine) peptidase inhibitor, clade A, member 4, pseudogene 1 ISO protein:decreased expression:vitreous fluid (human) RGD PMID:8950506 RGD:1580289 NCBI chr12:104,044,218...104,053,179
Ensembl chr12:104,046,908...104,052,983
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)
associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human)
associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human)
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
RGD PMID:23281898 PMID:19419896 PMID:7974340 PMID:9201602 PMID:12660488 RGD:8547697, RGD:8547741, RGD:8547740, RGD:8547710, RGD:8547699 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 severity ISO
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human)
protein:increased expression:vitreous humor
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
protein:alternative form:vitreous humor
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina
RGD PMID:17658465 PMID:15059706 PMID:18025835 PMID:18455830 PMID:19365032 More... RGD:2312346, RGD:1580135, RGD:2312344, RGD:2312341, RGD:2312337, RGD:2312348 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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 7:126,247,558...126,271,951
Ensembl chr 7:126,248,481...126,272,097
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894401 NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA,protein:increased expression:retina RGD PMID:28973045 RGD:243048421 NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO human gene in a mouse model
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:19074809 PMID:19074809 RGD:8655572 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
G Sod3 superoxide dismutase 3, extracellular ISO RGD PMID:12663605 RGD:1581298 NCBI chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760
JBrowse link
G Stra6 stimulated by retinoic acid gene 6 treatment IEP associated with type 2 diabetes mellitus RGD PMID:30096827 RGD:155631301 NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Diabetic retinopathy ClinVar PMID:9536098 PMID:15731757 PMID:16799921 PMID:17576681 PMID:21270064 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428
JBrowse link
G Thbs1 thrombospondin 1 ISO associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17117553 PMID:17117553 RGD:2317943 NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614
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 8:4,309,731...4,325,905
Ensembl chr 8:4,309,731...4,325,913
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 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tnf tumor necrosis factor no_association
disease_progression
ISO associated with Diabetes Mellitus, Type 2
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human)
protein:increased expression:serum, vitreous humour
associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet:
RGD PMID:22105495 PMID:16979413 PMID:16284605 PMID:10540181 RGD:7364856, RGD:8548772, RGD:7401212, RGD:7394805 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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 4:151,081,554...151,086,267
Ensembl chr 4:151,081,554...151,086,267
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 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO RGD PMID:15899948 RGD:1580363 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
G Vegfa vascular endothelial growth factor A ISO 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 chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
JBrowse link
G Vps26a VPS26 retromer complex component A susceptibility ISO DNA:SNP:: (rs1802295) (Human) RGD PMID:28821857 RGD:401850599 NCBI chr10:62,290,622...62,322,584
Ensembl chr10:62,291,014...62,322,584
JBrowse link
G Vtn vitronectin ISO associated with Diabetes Mellitus, Experimental RGD PMID:7536680 PMID:8804356 RGD:1580818, RGD:10040982 NCBI chr11:78,389,946...78,393,151
Ensembl chr11:78,389,917...78,393,150
JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:10077454 RGD:1580648 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein susceptibility ISO DNA:SNP:: (rs10010131) (Human) RGD PMID:28821857 RGD:401850599 NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549
JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:SNP:cd: p.R399Q G>A (rs25487) (human) RGD PMID:30472145 RGD:401827275 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
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 chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:vitreous humor RGD PMID:16364297 RGD:8695978 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
JBrowse link
G Bcor BCL6 interacting corepressor susceptibility ISO associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR RGD PMID:26248552 RGD:155631276 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594
JBrowse link
G Cald1 caldesmon 1 ISO mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 6:34,575,433...34,752,404
Ensembl chr 6:34,575,435...34,752,408
JBrowse link
G Calu calumenin ISO mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 6:29,348,105...29,376,674
Ensembl chr 6:29,348,068...29,377,109
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 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:g.-2518A>G (human)
associated with Diabetes Mellitus;protein:increased expression:vitreous humor (human)
RGD PMID:23549806 PMID:21850157 RGD:8548851, RGD:8549477 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccn1 cellular communication network factor 1 ISO protein:increased expression:vitreous body (human) RGD PMID:22160564 RGD:329845551 NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736
JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442
JBrowse link
G Col6a3 collagen, type VI, alpha 3 ISO mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693
JBrowse link
G Coro1c coronin, actin binding protein 1C ISO mRNA:increased expression:retina (human) RGD PMID:35692390 RGD:401851065 NCBI chr 5:113,980,500...114,046,767
Ensembl chr 5:113,980,497...114,046,819
JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 disease_progression ISO protein:decreased expression:vitreous: RGD PMID:22864860 RGD:9685437 NCBI chr15:54,702,297...54,816,284
Ensembl chr15:54,702,297...54,816,288
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:vitreous: RGD PMID:22868384 RGD:10402118 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO protein:increased expression:serum RGD PMID:17401618 RGD:10402814 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
JBrowse link
G Map3k8 mitogen-activated protein kinase kinase kinase 8 ISO protein:increased activity:serum: RGD PMID:28724746 RGD:151356966 NCBI chr18:4,331,325...4,352,978
Ensembl chr18:4,331,327...4,353,015
JBrowse link
G Mir15a microRNA 15a ISO miRNA:increased expression:vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559
JBrowse link
G Mir23a microRNA 23a ISO miRNA:increased expression:blood serum (human) RGD PMID:24970617 RGD:155882576 NCBI chr 8:84,935,147...84,935,221
Ensembl chr 8:84,935,147...84,935,221
JBrowse link
G Mir29a microRNA 29a ISO miRNA:increased expression:vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr 6:31,039,595...31,039,682
Ensembl chr 6:31,039,595...31,039,682
JBrowse link
G Mir320 microRNA 320 ISO miRNA:increased expression:blood serum, vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031
JBrowse link
G Mir423 microRNA 423 ISO miRNA:decreased expression:serum RGD PMID:31422516 RGD:158014897 NCBI chr11:76,968,890...76,968,998
Ensembl chr11:76,968,890...76,968,998
JBrowse link
G Mir93 microRNA 93 ISO miRNA:increased expression:vitreous humor (human) RGD PMID:24970617 RGD:155882576 NCBI chr 5:138,163,785...138,163,872
Ensembl chr 5:138,163,785...138,163,872
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO protein:increased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma onset
susceptibility
ISO associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human)
DNA:snp:cds:p.P12A (rs1801282) (human)
RGD PMID:18541841 PMID:19125195 PMID:23559865 RGD:2301854, RGD:8699508, RGD:8552820 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO protein:increased expression:vitreous humor (human) RGD PMID:33627831 RGD:401976389 NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305
JBrowse link
G Rbp4 retinol binding protein 4, plasma disease_progression ISO protein:increased expression:blood serum (human) RGD PMID:20233518 RGD:329853306 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade 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 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 treatment ISO protein:increased expression:vitreous fluid (human) RGD PMID:11723044 PMID:15059706 RGD:8554895, RGD:1580135 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
JBrowse link
G Slit2 slit guidance ligand 2 ISO associated with eye disease; protein:increased expression:vitreous RGD PMID:28973045 RGD:243048421 NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075
JBrowse link
G Srsf6 serine and arginine-rich splicing factor 6 ISO DNA:snp:exon:p.P281P (rs2235611) (human) RGD PMID:21309690 RGD:11039452 NCBI chr 2:162,773,428...162,779,041
Ensembl chr 2:162,773,448...162,779,041
JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO mRNA:decreased expression:retina RGD PMID:22003103 RGD:13463597 NCBI chr 8:4,309,731...4,325,905
Ensembl chr 8:4,309,731...4,325,913
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 chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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 polypeptide IAGP MouseDO NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16107
    disease of anatomical entity 15663
      endocrine system disease 6333
        diabetes mellitus 1452
          Diabetes Complications 526
            diabetic angiopathy 204
              Diabetic Foot 18
              diabetic retinopathy + 169
Path 2
Term Annotations click to browse term
  disease 16107
    Developmental Disease 13806
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12830
        genetic disease 12479
          inherited metabolic disorder 5710
            carbohydrate metabolic disorder 2856
              glucose metabolism disease 1641
                diabetes mellitus 1452
                  Diabetes Complications 526
                    diabetic angiopathy 204
                      Diabetic Foot 18
                      diabetic retinopathy + 169
paths to the root