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
Accession: DOID:11713
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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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 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7783416 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:19221299 PMID:20093180 PMID:21471972 PMID:22095942 PMID:24163131 PMID:25741868 PMID:28492532 More...
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10575540 PMID:10660483 PMID:11040194 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11903354 PMID:11904676 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12693884 PMID:12707220 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15546588 PMID:15858186 PMID:16132052 PMID:16186539 PMID:16879202 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20471131 PMID:20560808 PMID:21243428 PMID:21349849 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23429074 PMID:23953397 PMID:24033266 PMID:24604426 PMID:24729993 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27890643 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 More...
NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:11918623 PMID:25741868 PMID:17949258 More...
RGD:2313270
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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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
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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
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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
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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
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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
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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
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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 PMID:17192491 More...
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:14704946 PMID:16969646 PMID:16969646 PMID:23146804 PMID:23587252 PMID:22475522 PMID:19542745 PMID:23091285 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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
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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
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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
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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
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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
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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
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
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
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
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
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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
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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
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Insr
insulin receptor
IAGP
MouseDO
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
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
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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
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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
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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
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
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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
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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
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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
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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
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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
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
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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
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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
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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
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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
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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
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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
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
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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
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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
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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
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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
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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 PMID:23059402 PMID:20435587 PMID:15890549 PMID:17973941 PMID:11918626 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
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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
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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
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
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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
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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
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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
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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
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
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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
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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
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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 PMID:20012460 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
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
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
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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
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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
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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
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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
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
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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
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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
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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 PMID:16054135 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
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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
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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
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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
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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
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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
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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
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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 PMID:24033266 PMID:25741868 PMID:25944730 PMID:28162229 PMID:28492532 PMID:28679693 PMID:29510914 PMID:30222965 PMID:32528524 PMID:34572573 More...
NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428
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
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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
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
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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
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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
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
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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
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 PMID:9852717 PMID:16636650 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
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
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
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
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
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
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
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
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
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
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
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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
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
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
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
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
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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
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
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
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
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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
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
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
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
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
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
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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
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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
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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
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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
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
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
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
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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
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
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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
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
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
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