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: Diabetes Complications
Accession: DOID:9002661
browse the term
Definition: Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE.
Synonyms: exact_synonym: Complications of Diabetes Mellitus; Diabetes Complication; Diabetes Mellitus Complication; Diabetes Mellitus Complications; Diabetes Related Complications; Diabetes-Related Complication; Diabetic Complication; Diabetic Complications
primary_id: MESH:D048909 ; RDO:0001421
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ABCC4
ATP binding cassette subfamily C member 4 (PEL blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29382564
NCBI chr13:76,193,929...76,476,119
Ensembl chr13:95,349,915...95,582,058
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AKR1B1
aldo-keto reductase family 1 member B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25304492 PMID:25541468
NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095
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ALDH2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23500772
NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
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BDKRB1
bradykinin receptor B1
ISO
RGD
PMID:20479236
RGD:7241550
NCBI chr14:76,885,923...76,894,456
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BDKRB2
bradykinin receptor B2
ISO
RGD
PMID:20479236
RGD:7241550
NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253
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CASP9
caspase 9
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:24252320
RGD:13782355
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
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CYP2C9
cytochrome P450 family 2 subfamily C member 9
ISO
RGD
PMID:15963101
RGD:2307154
NCBI chr10:91,547,865...91,598,918
Ensembl chr10:95,022,482...95,105,653
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
Associated with obesity
RGD
PMID:21282363
RGD:6906933
NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644
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GHRL
ghrelin and obestatin prepropeptide
ISO
protein: decreased expression: serum
RGD
PMID:18025762
RGD:7242563
NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
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GLO1
glyoxalase I
no_association
ISO
DNA:SNP: :419C>A (human)
RGD
PMID:21738003
RGD:7242569
NCBI chr 6:38,247,881...38,275,098
Ensembl chr 6:39,434,746...39,461,971
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HDAC4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35554780
NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26073000
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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MUC1
mucin 1, cell surface associated
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23977093
RGD:7349380
NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
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NR0B2
nuclear receptor subfamily 0 group B member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29382564
NCBI chr 1:26,174,055...26,176,689
Ensembl chr 1:27,230,362...27,232,942
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PLN
phospholamban
ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:diaphragm
RGD
PMID:23443767
RGD:7327179
NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
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PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19003935
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
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PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21548839
RGD:6484542
NCBI chr 5:69,581,748...69,620,721
Ensembl chr 5:74,627,830...74,666,505
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SLC10A2
solute carrier family 10 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29382564
NCBI chr13:84,200,209...84,224,164
Ensembl chr13:103,336,073...103,359,359
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SLC51A
solute carrier family 51 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29382564
NCBI chr 3:193,554,592...193,573,984
Ensembl chr 3:203,504,092...203,521,354
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SLC51B
SLC51 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29382564
NCBI chr15:43,988,512...43,992,939
Ensembl chr15:62,268,738...62,277,160
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SLC9A1
solute carrier family 9 member A1
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:18057998
RGD:6771339
NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089
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VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26073000
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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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 chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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FLT1
fms related receptor tyrosine kinase 1
ISO
protein:decreased expression:aqueous humor:
RGD
PMID:23853629
RGD:10402120
NCBI chr13:9,584,850...9,779,542
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LOC100979269
alpha-2-macroglobulin
treatment
ISO
RGD
PMID:10848441
RGD:10046010
NCBI chr12:9,154,457...9,202,833
Ensembl chr12:9,385,359...9,433,979
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MAP3K8
mitogen-activated protein kinase kinase kinase 8
ISO
protein:increased activity:serum:
RGD
PMID:28724746
RGD:151356966
NCBI chr10:30,579,220...30,607,249
Ensembl chr10:30,933,483...30,960,824
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PDGFB
platelet derived growth factor subunit B
ISO
protein:decreased expression:vitreous:
RGD
PMID:19799585
RGD:10449447
NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
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RNF135
ring finger protein 135
ISO
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
NCBI chr17:25,843,447...25,869,874
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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 chr11:71,708,222...71,721,426
Ensembl chr11:75,354,997...75,367,440
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ACE
angiotensin I converting enzyme
ISO
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 3
ClinVar
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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ADCY3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr2A:24,812,729...24,913,539
Ensembl chr2A:24,908,108...25,009,163
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ADCY8
adenylate cyclase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr 8:127,418,407...127,681,217
Ensembl chr 8:130,398,288...130,661,073
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AGER
advanced glycosylation end-product specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20372816
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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ALB
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19733855
NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
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ASS1
argininosuccinate synthase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25033204
NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
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BDKRB1
bradykinin receptor B1
ISO
RGD
PMID:15878326
RGD:7241570
NCBI chr14:76,885,923...76,894,456
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CASP3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
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CCL2
C-C motif chemokine ligand 2
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23154660
RGD:11526153
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CD28
CD28 molecule
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell
RGD
PMID:15504310
RGD:2307197
NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
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CD40LG
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:14963650
RGD:2314223
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CREM
cAMP responsive element modulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr10:35,247,426...35,335,545
Ensembl chr10:35,825,218...35,912,432
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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 chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231
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EPO
erythropoietin
ISO
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2
OMIM ClinVar
PMID:18458324
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
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F3
coagulation factor III, tissue factor
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent protein:increased expression:plasma
RGD
PMID:9285207 PMID:16371118
RGD:2313861 RGD:2313868
NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050
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FAS
Fas cell surface death receptor
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:15803113
RGD:2315753
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FASLG
Fas ligand
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15803113 PMID:25381014
RGD:2315753
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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FN1
fibronectin 1
ISO
RGD
PMID:12716757
RGD:1601179
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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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 chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393
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GP1BA
glycoprotein Ib platelet subunit alpha
ISO
RGD
PMID:21411989
RGD:7242686
NCBI chr17:4,980,083...4,983,219
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GPX1
glutathione peroxidase 1
ISO
cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood
RGD
PMID:16338763
RGD:1600708
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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GSR
glutathione-disulfide reductase
ISO
cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood
RGD
PMID:16338763
RGD:1600708
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
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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:11532995 PMID:11812557 PMID:11903354 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12584229 PMID:12693884 PMID:12707220 PMID:12915468 PMID:14618419 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15350019 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20471131 PMID:21243428 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23953397 PMID:24033266 PMID:24604426 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27890643 PMID:28492532 PMID:29404719 PMID:31061747 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:37260121 More...
NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
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HMOX1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16959961
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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ICAM1
intercellular adhesion molecule 1
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta
RGD
PMID:18093596 PMID:18796303
RGD:2306988 RGD:2313473
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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IGFBP1
insulin like growth factor binding protein 1
ISO
DNA:SNPs
RGD
PMID:16306374
RGD:1625238
NCBI chr 7:46,538,566...46,545,536
Ensembl chr 7:46,658,097...46,662,584
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IL1RN
interleukin 1 receptor antagonist
ISO
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 4
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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ITGAM
integrin subunit alpha M
ISO
protein:increased expression:neutrophil (human)
RGD
PMID:18496641
RGD:329901826
NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
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MMP14
matrix metallopeptidase 14
ISO
RGD
PMID:12477149
RGD:1582581
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16681562
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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NOS2
nitric oxide synthase 2
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea
RGD
PMID:19241604 PMID:19587355
RGD:2313210 RGD:4891384
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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NOS3
nitric oxide synthase 3
treatment
ISO
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea
CTD RGD
PMID:12124201 PMID:19241604 PMID:29329611
RGD:13504708 RGD:4891384
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus
RGD
PMID:10329590
RGD:2311657
NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
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PLAT
plasminogen activator, tissue type
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:18945481
RGD:2311663
NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
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PON1
paraoxonase 1
ISO
ClinVar Annotator: match by term: RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO
ClinVar
PMID:9011577 PMID:9661650 PMID:11335891 PMID:11788650 PMID:11889198 PMID:11918623 PMID:25741868 More...
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
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PTK2B
protein tyrosine kinase 2 beta
treatment
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:21926342
RGD:10041069
NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474
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RBP4
retinol binding protein 4
disease_progression
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33294897
RGD:329853310
NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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SERPINE1
serpin family E member 1
susceptibility
ISO
associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human)
RGD
PMID:9844142
RGD:8547700
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SERPINF1
serpin family F member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
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SOD1
superoxide dismutase 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16338763
RGD:1600708
NCBI chr21:18,029,831...18,037,526
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SOD2
superoxide dismutase 2
ISO
ClinVar Annotator: match by term: SUPEROXIDE DISMUTASE 2 POLYMORPHISM
OMIM ClinVar
PMID:8633092 PMID:10425186 PMID:12624725 PMID:15591282 PMID:16538174 PMID:17192491 More...
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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SPARC
secreted protein acidic and cysteine rich
ISO
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel
RGD
PMID:10625572
RGD:2300063
NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
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THBS1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170
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THBS2
thrombospondin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25381014
NCBI chr 6:167,290,482...167,329,319
Ensembl chr 6:172,130,727...172,169,028
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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 chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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VEGFA
vascular endothelial growth factor A
ISO
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1
OMIM ClinVar
PMID:11978667
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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ACE
angiotensin I converting enzyme
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22595130
RGD:9685456
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ACE2
angiotensin converting enzyme 2
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22595130
RGD:9685456
NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum
RGD
PMID:24669271
RGD:8695938
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
G
ADIPOR1
adiponectin receptor 1
ISO
associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum
RGD
PMID:24669271
RGD:8695938
NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782
G
AGER
advanced glycosylation end-product specific receptor
treatment
ISO
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:heart (rat)
RGD
PMID:23251674
RGD:7244283
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
G
AGT
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29353218
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
G
AGTR2
angiotensin II receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15587404 PMID:16025228
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
G
AKT1
AKT serine/threonine kinase 1
ameliorates
ISO
RGD
PMID:36044268
RGD:156430337
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
G
APOA1
apolipoprotein A1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18332268
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
G
ATF6
activating transcription factor 6
ameliorates
ISO
RGD
PMID:36044268
RGD:156430337
NCBI chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725
G
ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16685413 PMID:21441944
RGD:6771209
NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923
G
ATP7A
ATPase copper transporting alpha
treatment
ISO
RGD
PMID:24927960
RGD:11341676
NCBI chr X:67,093,675...67,231,318
Ensembl chr X:77,255,312...77,342,756
G
BAD
BCL2 associated agonist of cell death
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21296063
RGD:10053697
NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
G
BAX
BCL2 associated X, apoptosis regulator
ameliorates
ISO
RGD
PMID:36044268
RGD:156430337
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
G
BCL2
BCL2 apoptosis regulator
treatment
ISO
associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse)
RGD
PMID:21296063 PMID:21474815
RGD:10053697 RGD:11522727
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
G
CASP3
caspase 3
treatment
ISO
RGD
PMID:28992627
RGD:13782299
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
G
CASP8
caspase 8
treatment
ISO
RGD
PMID:28992627
RGD:13782299
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
G
CASP9
caspase 9
treatment
ISO
RGD
PMID:28992627
RGD:13782299
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
G
CASQ2
calsequestrin 2
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21441944
RGD:6771209
NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
G
CASR
calcium sensing receptor
ISO
protein:decreased expression:myocardium (rat)
RGD
PMID:22137362
RGD:7205677
NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268
G
CFL1
cofilin 1
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:27576917
RGD:11568692
NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806
G
CTNNB1
catenin beta 1
ISO
mRNA,protein:increased expression:heart
RGD
PMID:25586361
RGD:13524855
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
G
DDIT3
DNA damage inducible transcript 3
ameliorates
ISO
RGD
PMID:36044268
RGD:156430337
NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
G
ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium
RGD
PMID:22285193
RGD:10449013
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
G
ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium
RGD
PMID:22285193
RGD:10449013
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
G
HMOX1
heme oxygenase 1
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23453443 PMID:23853776
RGD:10412713 RGD:9586347
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
G
HSP90B1
heat shock protein 90 beta family member 1
ameliorates
ISO
RGD
PMID:36044268
RGD:156430337
NCBI chr12:101,506,845...101,524,407
Ensembl chr12:104,901,997...104,919,329
G
HSPA5
heat shock protein family A (Hsp70) member 5
ameliorates
ISO
RGD
PMID:36044268
RGD:156430337
NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
G
IGF1
insulin like growth factor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11375343
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
G
IGF2R
insulin like growth factor 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36462176
NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:23843977
RGD:7247697
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
G
INS
insulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20828608
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
G
KLK1
kallikrein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16129698
NCBI chr19:47,784,368...47,789,004
Ensembl chr19:56,677,579...56,682,216
G
LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35235096
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
G
LOC100979269
alpha-2-macroglobulin
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21742475
RGD:10046044
NCBI chr12:9,154,457...9,202,833
Ensembl chr12:9,385,359...9,433,979
G
MAP3K7
mitogen-activated protein kinase kinase kinase 7
ISO
associated with type 2 diabetes mellitus;protein:decreased expression:myocardium of ventricle (rat)
RGD
PMID:22146585
RGD:155883162
NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468
G
MAPK1
mitogen-activated protein kinase 1
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:25907942
RGD:13800893
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
G
MAPK3
mitogen-activated protein kinase 3
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:25907942
RGD:13800893
Ensembl chr16:30,489,362...30,498,017
G
MTOR
mechanistic target of rapamycin kinase
ameliorates
ISO
RGD
PMID:36044268
RGD:156430337
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
G
MYLK2
myosin light chain kinase 2
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:9005973
RGD:1580244
NCBI chr20:28,113,024...28,128,142
Ensembl chr20:29,243,391...29,258,508
G
NFE2L2
NFE2 like bZIP transcription factor 2
treatment ameliorates
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23353773 PMID:23453443 PMID:36044268
RGD:10412713 RGD:10412721 RGD:156430337
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
G
NOS3
nitric oxide synthase 3
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:29274332
RGD:13504685
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
G
NOTCH1
notch receptor 1
treatment
ISO
RGD
PMID:32828943
RGD:405650202
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
G
NPPA
natriuretic peptide A
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23497378
RGD:7297056
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
G
NRG1
neuregulin 1
treatment
ISO
associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium
RGD
PMID:22285193 PMID:32828943
RGD:10449013 RGD:405650202
NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
G
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ameliorates
ISO
RGD
PMID:36044268
RGD:156430337
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
G
PLN
phospholamban
ISO
associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle
RGD
PMID:22185592
RGD:7327207
NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
G
PPARA
peroxisome proliferator activated receptor alpha
ISO
Strain: ZDF
RGD
PMID:19317897
RGD:5509944
Ensembl chr22:45,218,364...45,302,970
G
RYR2
ryanodine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16685413
NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
G
SLC25A4
solute carrier family 25 member 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18945756
NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549
G
SLC8A1
solute carrier family 8 member A1
treatment
ISO
RGD
PMID:27058979
RGD:13628396
NCBI chr2A:40,169,339...40,586,546
Ensembl chr2A:40,939,900...41,363,038
G
SPP1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16980342
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
G
TERT
telomerase reverse transcriptase
treatment
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:21264070
RGD:11038677
Ensembl chr 5:1,300,960...1,338,872
G
TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17909696
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
XDH
xanthine dehydrogenase
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23843977
RGD:7247697
NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
G
GSR
glutathione-disulfide reductase
ISO
RGD
PMID:12518238
RGD:10401829
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
G
AIFM1
apoptosis inducing factor mitochondria associated 1
ISO
protein:increased expression:nuclei:
RGD
PMID:20879002
RGD:10053565
NCBI chr X:119,256,425...119,292,612
Ensembl chr X:129,550,287...129,586,271
G
BAD
BCL2 associated agonist of cell death
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23129268
RGD:10053664
NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
G
FADD
Fas associated via death domain
ISO
RGD
PMID:26419589
RGD:13792560
NCBI chr11:65,300,889...65,305,020
G
AGER
advanced glycosylation end-product specific receptor
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23529380 PMID:24291733
RGD:7244255 RGD:8553040
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
G
APP
amyloid beta precursor protein
treatment
ISO
associated with type 2 diabetes mellitus
RGD
PMID:28885995
RGD:13782056
NCBI chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
G
DUSP1
dual specificity phosphatase 1
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:17601561
RGD:7771546
NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960
G
GSK3B
glycogen synthase kinase 3 beta
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:26970304
RGD:13792771
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
G
IDE
insulin degrading enzyme
ISO
associated with type 2 diabetes mellitus
RGD
PMID:27306699
RGD:13792796
NCBI chr10:89,196,295...89,320,223
Ensembl chr10:92,716,540...92,833,353
G
NGF
nerve growth factor
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with Experimental Diabetes Mellitus
RGD
PMID:23528019 PMID:32681844
RGD:402463968 RGD:7242845
NCBI chr 1:87,223,597...87,276,759
G
NGFR
nerve growth factor receptor
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23528019
RGD:7242845
NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
G
PPARG
peroxisome proliferator activated receptor gamma
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:24291733
RGD:8553040
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:20836881
RGD:5686889
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
G
AGER
advanced glycosylation end-product specific receptor
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood
RGD
PMID:21941211
RGD:6767555
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
G
CRP
C-reactive protein
disease_progression
ISO
protein:increased expression:blood:
RGD
PMID:22712631
RGD:6906887
NCBI chr 1:135,062,102...135,064,402
G
GJA1
gap junction protein alpha 1
ISO
protein:increased expression:dermis
RGD
PMID:22455314
RGD:7207269
NCBI chr 6:119,213,513...119,227,617
G
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
mRNA,protein:decreased expression:blood serum, foot (human)
RGD
PMID:34293021
RGD:155260332
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
G
HSPA1B
heat shock protein family A (Hsp70) member 1B
severity
ISO
DNA:polymorphism: :1538G>A (human)
RGD
PMID:19731315
RGD:8662463
NCBI chr 6:31,488,882...31,491,412
G
IGF1
insulin like growth factor 1
ISO
protein:decreased expression:fibroblast of dermis,stratum basale of epidermis:
RGD
PMID:10727985
RGD:8549356
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622
G
ITGAM
integrin subunit alpha M
ISO
protein:increased expression:pes (human)
RGD
PMID:37087778
RGD:329853756
NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
G
MBL2
mannose binding lectin 2
ISO
protein:increased expression:serum:
RGD
PMID:19997692
RGD:8694068
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
G
MMP9
matrix metallopeptidase 9
severity
ISO
RGD
PMID:22688339
RGD:8547813
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
G
NOTCH1
notch receptor 1
ISO
protein:increased expression:skin, epidermis:
RGD
PMID:30886104
RGD:155646129
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
G
PLAT
plasminogen activator, tissue type
ISO
RGD
PMID:17275886
RGD:2311669
NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
G
PTX3
pentraxin 3
ISO
protein:decreased expression:plasma (human)
RGD
PMID:30767386
RGD:38501100
NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
G
TLR4
toll like receptor 4
susceptibility
ISO
DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human);
RGD
PMID:23936790
RGD:7777174
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
G
AQP2
aquaporin 2
ISO
RGD
PMID:12021537
RGD:2314345
NCBI chr12:38,796,300...38,804,559
Ensembl chr12:39,690,289...39,698,397
G
INS
insulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11430560
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
G
INSR
insulin receptor
ISO
RGD
PMID:15254588
RGD:1302526
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
G
PAX4
paired box 4
ISO
ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone | ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to
ClinVar OMIM
PMID:9536098 PMID:15509590 PMID:17576681 PMID:18414213 PMID:25741868 PMID:28492532 More...
NCBI chr 7:119,605,924...119,613,579
Ensembl chr 7:132,260,859...132,268,516
G
SERPINA7
serpin family A member 7
ISO
protein:decreased expression:serum
RGD
PMID:6768790
RGD:2312332
NCBI chr X:95,163,842...95,169,230
Ensembl chr X:105,541,475...105,548,132
G
ACE
angiotensin I converting enzyme
treatment no_association susceptibility
ISO
associated with Diabetes Mellitus, Type 1;DNA:insertion/deletion CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human) associated with Diabetes Mellitus, Type 2;DNA:insertion/deletion
RGD CTD
PMID:7729604 PMID:7909524 PMID:8314010 PMID:10099885 PMID:10857950 PMID:10862638 PMID:11938025 PMID:19301230 PMID:23733546 PMID:23803175 PMID:28468961 More...
RGD:11039044 RGD:2311449 RGD:7829777 RGD:7829780 RGD:8548872 RGD:8548885
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
G
ACE2
angiotensin converting enzyme 2
no_association
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:decreased expression:kidney associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism|therapeutic associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple (human) mRNA, protein:altered expression:kidney
RGD CTD
PMID:12623933 PMID:17600118 PMID:18235039 PMID:19034303 PMID:19077419 PMID:20844835 More...
RGD:2313796 RGD:2313797 RGD:2313800
NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891
G
ACTN1
actinin alpha 1
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr14:49,460,390...49,565,986
Ensembl chr14:68,335,694...68,440,836
G
ACVR1
activin A receptor type 1
ISO
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney
RGD
PMID:11675415
RGD:2313802
NCBI chr2B:44,994,175...45,133,490
Ensembl chr2B:162,234,823...162,297,805
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
no_association disease_progression
ISO
associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1501299 (human) protein:increased expression:plasma associated with Diabetes Mellitus, Type 2;protein:increased expression:serum CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs2241766 (human)
RGD CTD
PMID:17942768 PMID:17970779 PMID:21945031 PMID:23260797
RGD:5686409 RGD:8694443 RGD:8694475
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
G
ADORA1
adenosine A1 receptor
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:19552053
RGD:2313803
NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760
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ADRA2B
adrenoceptor alpha 2B
ISO
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism (human)
RGD
PMID:15660746
RGD:2313545
NCBI chr2A:103,198,432...103,202,506
Ensembl chr2A:97,040,126...97,041,472
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ADRB3
adrenoceptor beta 3
ISO
associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:9867224
RGD:5684403
NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949
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AGER
advanced glycosylation end-product specific receptor
susceptibility treatment
ISO
associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1704G>T (human) associated with Diabetes Mellitus;DNA:polymorphisms, haplotype:cds, intron:p.G82S, g.2184A>G (rs2070600, rs3134940) (human) associated with Diabetes Mellitus, Type 2;protein:increased expression:serum associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex, glomerulus
RGD
PMID:12651605 PMID:14747204 PMID:19142024 PMID:21533139 PMID:21856399 PMID:23091285 More...
RGD:2325651 RGD:7243248 RGD:7243852 RGD:7244174 RGD:7244187 RGD:8695982
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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AGT
angiotensinogen
no_association disease_progression
ISO
CTD Direct Evidence: therapeutic associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human) associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human)
CTD RGD
PMID:8772723 PMID:10862638 PMID:11938025 PMID:17890855 PMID:19014923 PMID:20383342 More...
RGD:11039058 RGD:8548868 RGD:8548872 RGD:8548885
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
G
AGTR1
angiotensin II receptor type 1
ISO
associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1166A>C (human) associated with Diabetes Mellitus, Experimental
RGD
PMID:12172324 PMID:12476891
RGD:6903861 RGD:8548891
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
G
AGTR2
angiotensin II receptor type 2
ISO
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney
RGD
PMID:18565281
RGD:6903847
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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AHSG
alpha 2-HS glycoprotein
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum
RGD
PMID:15698447
RGD:2313813
NCBI chr 3:183,644,223...183,652,620
Ensembl chr 3:192,110,770...192,119,915
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AKR1B1
aldo-keto reductase family 1 member B
susceptibility
ISO
associated with Diabetes Mellitus, Type 1;DNA:promoter:repeat:g.?(AC)n (human)
RGD
PMID:9000706 PMID:9215310
RGD:734542 RGD:8548641
NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095
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ALB
albumin
ISO
associated with Metabolic Syndrome X;protein:increased expression:urine CTD Direct Evidence: therapeutic associated with Diabetes Mellitus, Experimental;protein:increased expression:urine associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine
RGD CTD
PMID:16380483 PMID:19246226 PMID:19397971 PMID:19424163 PMID:21441310
RGD:2306882 RGD:2306885 RGD:2306886 RGD:5135032
NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
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ALPK1
alpha kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27542954
NCBI chr 4:104,786,721...104,931,981
Ensembl chr 4:115,430,258...115,495,026
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APOA1
apolipoprotein A1
ISO
RGD
PMID:9829487
RGD:2313960
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
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APOA2
apolipoprotein A2
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
RGD
PMID:9829487 PMID:11126402
RGD:2313958 RGD:2313960
NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959
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APOB
apolipoprotein B
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:19324028
RGD:2313979
NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
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APOC1
apolipoprotein C1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:very-low-density lipoprotein particle
RGD
PMID:12753304
RGD:2313950
G
APOC3
apolipoprotein C3
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-455T>C
RGD
PMID:16813599
RGD:2306755
NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
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APOE
apolipoprotein E
no_association susceptibility
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, type 1; DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human)
RGD
PMID:11495633 PMID:21127830 PMID:22859852
RGD:6902935 RGD:6903840 RGD:7771553
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
G
APOH
apolipoprotein H
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum
RGD
PMID:11302005
RGD:2313989
NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483
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AQP2
aquaporin 2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased secretion:urine
RGD
PMID:12218327
RGD:2314343
NCBI chr12:38,796,300...38,804,559
Ensembl chr12:39,690,289...39,698,397
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ARG2
arginase 2
ISO
RGD
PMID:21926276
RGD:6902923
NCBI chr14:48,197,831...48,231,829
Ensembl chr14:67,075,941...67,109,962
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ASIP
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37769864
NCBI chr20:30,583,038...30,592,726
Ensembl chr20:31,718,169...31,727,217
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ATP5F1B
ATP synthase F1 subunit beta
treatment
ISO
mRNA:decreased expression:renal glomerulus (rat)
RGD
PMID:22591908
RGD:13792578
NCBI chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753
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AXL
AXL receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12644472
NCBI chr19:38,211,555...38,254,464
Ensembl chr19:46,719,615...46,761,747
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AZIN1
antizyme inhibitor 1
treatment
ISO
RGD
PMID:26751697
RGD:14700801
NCBI chr 8:99,483,027...99,521,151
Ensembl chr 8:101,639,950...101,678,604
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BDKRB2
bradykinin receptor B2
susceptibility
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:17596525
RGD:2313335
NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253
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BDNF
brain derived neurotrophic factor
ISO
RGD
PMID:20557422
RGD:4891134
NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
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BECN1
beclin 1
ISO
protein:increased expression:kidney
RGD
PMID:21866636
RGD:6483069
NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
G
BGLAP
bone gamma-carboxyglutamate protein
ISO
associated with Diabetes Mellitus, Type2; protein:increased expression:serum:
RGD
PMID:9347246
RGD:7207424
NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432
G
BMP7
bone morphogenetic protein 7
ISO
RGD
PMID:17437042
RGD:2289036
NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021
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C3
complement C3
ISO
associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Type 1; protein:increased expression:kidney:
RGD
PMID:19200691 PMID:25662584
RGD:11040807 RGD:7183082
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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C5
complement C5
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:25662584
RGD:11040807
NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856
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CACNA1B
calcium voltage-gated channel subunit alpha1 B
treatment
ISO
RGD
PMID:27273361
RGD:13506726
NCBI chr 9:108,989,621...109,256,841
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CAPN10
calpain 10
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22012129
RGD:7247733
NCBI chr2B:127,838,477...127,851,334
Ensembl chr2B:246,645,630...246,679,169
G
CASP3
caspase 3
treatment
ISO
associated with type 2 diabetes mellitus associated with Diabetes Mellitus, Experimental;protein:increased activity:kidney associated with Diabetes Mellitus, Experimental
RGD
PMID:19601660 PMID:28456626 PMID:29606028
RGD:13782304 RGD:13792586 RGD:2311440
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
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CASP7
caspase 7
treatment
ISO
associated with type 2 diabetes mellitus
RGD
PMID:28456626
RGD:13782304
NCBI chr10:110,273,318...110,324,800
Ensembl chr10:113,707,780...113,758,626
G
CASP8
caspase 8
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with type 2 diabetes mellitus
RGD
PMID:28456626 PMID:29606028
RGD:13782304 RGD:13792586
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
G
CASP9
caspase 9
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:29606028 PMID:30038056
RGD:13782342 RGD:13792586
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
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CAT
catalase
ISO
associated with experimentally induced diabetes rat gene in db/db mice
RGD
PMID:20299359 PMID:21525431 PMID:21686137 PMID:22315314
RGD:7205651 RGD:7205662 RGD:7205665 RGD:7205676
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
CAV1
caveolin 1
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
G
CCL2
C-C motif chemokine ligand 2
disease_progression susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16374426 PMID:17968528 PMID:18031723 PMID:19097668 PMID:19369290 PMID:19409809 More...
RGD:2306979 RGD:2306980 RGD:2306982 RGD:2306989 RGD:2306991
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CCL20
C-C motif chemokine ligand 20
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:17664181
RGD:7483629
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
G
CCL5
C-C motif chemokine ligand 5
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-28C>G associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:urine
RGD
PMID:12610055 PMID:18326229
RGD:2307063 RGD:2307107
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
G
CCN2
cellular communication network factor 2
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney, glomerulus (rat) associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat)
RGD
PMID:19065061 PMID:19895808
RGD:2314366 RGD:2314604
NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
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CCNE1
cyclin E1
ISO
protein:increased expression:kidney
RGD
PMID:17825795
RGD:2289273
NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
G
CCR2
C-C motif chemokine receptor 2
no_association
ISO
associated with Diabetes Mellitus, Insulin-Dependent associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.V64I (human)
RGD
PMID:11756347 PMID:17631861
RGD:2313558 RGD:2313563
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
G
CCR5
C-C motif chemokine receptor 5
susceptibility
ISO
associated with Diabetes Mellitus, Type 2;DNA:SNP: :59029G>A (human) associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:59029G>A (human)
RGD
PMID:12610055 PMID:17428349
RGD:2307107 RGD:8549756
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
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CD36
CD36 molecule (CD36 blood group)
ISO
protein:increased expression:renal proximal tubule, endothelial cell
RGD
PMID:15737001
RGD:2307215
NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
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CD38
CD38 molecule
ISO
associated with Diabetes Mellitus associated with Diabetes Mellitus, Experimental
RGD
PMID:19073639 PMID:19300526
RGD:2307227 RGD:2307228
NCBI chr 4:10,228,803...10,295,129
Ensembl chr 4:15,525,835...15,587,677
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CD40LG
CD40 ligand
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:serum
RGD
PMID:18756582
RGD:2314208
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
G
CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27652271
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
G
CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
protein:increased expression:kidney mRNA, protein:increased expression:kidney, glomerulus
RGD
PMID:15698433 PMID:16805985
RGD:2293619 RGD:2293628
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
G
CFL1
cofilin 1
ISO
associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:renal glomerulus (rat)
RGD
PMID:24726496
RGD:11570419
NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806
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CLU
clusterin
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:18949565
RGD:9068414
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
G
CNDP1
carnosine dipeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17942768 PMID:21393041 PMID:21573905
RGD:7207213
NCBI chr18:67,920,453...67,982,843
Ensembl chr18:71,162,331...71,188,879 Ensembl chr18:71,162,331...71,188,879
G
CNDP2
carnosine dipeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21573905
NCBI chr18:67,882,189...67,907,094
Ensembl chr18:71,162,331...71,188,879
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COL1A1
collagen type I alpha 1 chain
ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus (rat)
RGD
PMID:22903132
RGD:8552684
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
G
COL1A2
collagen type I alpha 2 chain
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
G
COL4A1
collagen type IV alpha 1 chain
ISO
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA:increased expression:kidney
RGD CTD
PMID:17582205 PMID:18682491 PMID:19466391 PMID:27997345
RGD:2311340 RGD:2311342
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
G
COL6A3
collagen type VI alpha 3 chain
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr2B:124,554,478...124,644,482
G
CPB2
carboxypeptidase B2
susceptibility
ISO
protein:increased expression:plasma DNA:SNP:cds:1040C>T(human)
RGD
PMID:12574207 PMID:22932273
RGD:7243116 RGD:7243123
NCBI chr13:26,926,788...26,979,767
G
CREB1
cAMP responsive element binding protein 1
susceptibility
ISO
RGD
PMID:15862029
RGD:10059365
NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
G
CRP
C-reactive protein
disease_progression
ISO
associated with Diabetes Mellitus, Type 1 associated with Diabetes Mellitus, Type 2;protein:increased expression:urine
RGD
PMID:22590912 PMID:22885250
RGD:6906965 RGD:6906967
NCBI chr 1:135,062,102...135,064,402
G
CSF1R
colony stimulating factor 1 receptor
disease_progression
ISO
associated with Diabetes Mellitus, Type 2 mRNA,protein:increased expression:kidney (rat)
RGD
PMID:19466391 PMID:32141565
RGD:151665767 RGD:2311340
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
G
CST3
cystatin C
ISO
protein:increased expression:plasma (rat) protein:increased expression:serum (human)
RGD
PMID:18946178 PMID:19132849
RGD:2314297 RGD:2314328
NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:plasma:
RGD
PMID:18026823
RGD:2312302
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
G
CTSD
cathepsin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28468961
NCBI chr11:1,789,326...1,800,524
G
CUBN
cubilin
ISO
RGD
PMID:17037740
RGD:1599655
NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129
G
CXCL10
C-X-C motif chemokine ligand 10
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:17425653 PMID:19073786
RGD:2311357 RGD:2311359
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
G
CXCR2
C-X-C motif chemokine receptor 2
treatment
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:22791342
RGD:7257674
NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
G
CYP11B2
cytochrome P450 family 11 subfamily B member 2
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-344C>T (human)
RGD
PMID:16672053
RGD:2307295
NCBI chr 8:139,622,632...139,630,014
Ensembl chr 8:142,666,534...142,672,575
G
CYP19A1
cytochrome P450 family 19 subfamily A member 1
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22301628
RGD:7257708
NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
G
CYP2J2
cytochrome P450 family 2 subfamily J member 2
ISO
associated with Diabetes Mellitus, Experimental;
RGD
PMID:21742052
RGD:7243153
NCBI chr 1:59,151,079...59,184,625
Ensembl chr 1:60,856,269...60,889,810
G
DCN
decorin
ISO
associated with Diabetes Mellitus, Insulin-Dependent;mRNA, protein:decreased expression:kidney cortex, glomerulus protein:increased expression:plasma, urine associated with Diabetes Mellitus, Experimental
RGD
PMID:11259366 PMID:12187087 PMID:16868749 PMID:17884968
RGD:2311411 RGD:2311412 RGD:2311415 RGD:2311416
NCBI chr12:88,678,791...88,715,677
Ensembl chr12:91,994,129...92,031,413
G
DGKH
diacylglycerol kinase eta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20665664
NCBI chr13:23,221,391...23,413,541
G
DKK1
dickkopf WNT signaling pathway inhibitor 1
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:20019166
RGD:6907383
NCBI chr10:48,950,704...48,953,815
Ensembl chr10:51,084,027...51,089,776
G
EDN1
endothelin 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased secretion:plasma (human)
RGD
PMID:18346810
RGD:2313284
NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
G
EDNRA
endothelin receptor type A
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21191784
RGD:4892326
NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497
G
EGF
epidermal growth factor
ISO
RGD
PMID:17475821
RGD:6906912
NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
G
ELMO1
engulfment and cell motility 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17942768
NCBI chr 7:37,493,854...38,085,555
G
ENG
endoglin
ISO
associated with Diabetes Mellitus, Insulin-Dependent; mRNA:increased expression:kidney
RGD
PMID:19395281
RGD:2313795
NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
G
ENPEP
glutamyl aminopeptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28468961
NCBI chr 4:102,969,397...103,056,978
Ensembl chr 4:113,532,126...113,620,654
G
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
RGD
PMID:19506043
RGD:6906926
NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644
G
EP300
E1A binding protein p300
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat)
RGD
PMID:19268536
RGD:2311716
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
G
EPAS1
endothelial PAS domain protein 1
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2
RGD
PMID:17914354 PMID:17967803
RGD:10395374 RGD:10395377
NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
G
EPHX2
epoxide hydrolase 2
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21832210
RGD:5688728
NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749
G
EPO
erythropoietin
ISO
associated with Diabetes Mellitus, Experimental; Protein:decreased expression:serum DNA:snp:promoter:-1125T>G(rs1617640)(human)
RGD
PMID:18458324 PMID:19356735 PMID:19619913
RGD:2313832 RGD:2313833 RGD:2313838
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
G
ERRFI1
ERBB receptor feedback inhibitor 1
ISO
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney:
RGD
PMID:10749885
RGD:9685546
NCBI chr 1:6,771,619...6,786,217
Ensembl chr 1:8,011,848...8,033,674
G
ESR1
estrogen receptor 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:glomerulus associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:snps:introns: multiple(human) associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney
RGD
PMID:15550505 PMID:16464734 PMID:18305958
RGD:2314005 RGD:2314020 RGD:2314023
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
G
F2
coagulation factor II, thrombin
disease_progression
ISO
protein:increased expression:plasma (human) DNA:polymorphism: :20210G>A(human)
RGD
PMID:14983223 PMID:21574459 PMID:21955218
RGD:2313643 RGD:6893574 RGD:6893575
NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
G
F3
coagulation factor III, tissue factor
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:15004866
RGD:2313863
NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050
G
FABP2
fatty acid binding protein 2
ISO
DNA:polymorphism:CDS:amino acid A54T, in a Brazilian population
RGD
PMID:16249461
RGD:1578457
NCBI chr 4:111,505,269...111,510,197
Ensembl chr 4:122,055,544...122,060,461
G
FAS
Fas cell surface death receptor
ISO
mRNA:increased expression:kidney associated with Diabetes Mellitus, Experimental;protein:increased expression:renal distal tubule (rat) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney
RGD
PMID:12861046 PMID:17851466 PMID:18287563
RGD:2312739 RGD:2315705 RGD:8686421
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
G
FASLG
Fas ligand
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney
RGD
PMID:17851466
RGD:2315705
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
G
FBN1
fibrillin 1
onset
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:16380460 PMID:16395273
RGD:7365077 RGD:7365080
NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
G
FBXW12
F-box and WD repeat domain containing 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36073553
NCBI chr 3:48,290,904...48,318,318
G
FGF2
fibroblast growth factor 2
ISO
mRNA:increased expression:kidney
RGD
PMID:19279131
RGD:2315842
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
G
FGF21
fibroblast growth factor 21
ISO
protein:increased expression:serum:
RGD
PMID:25625802
RGD:10401920
NCBI chr19:45,755,466...45,758,472
G
FGF23
fibroblast growth factor 23
severity
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:23967103
RGD:10044235
NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000
G
FLT1
fms related receptor tyrosine kinase 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine
RGD
PMID:15610240
RGD:2313731
NCBI chr13:9,584,850...9,779,542
G
FMOD
fibromodulin
ISO
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:decreased expression:kidney cortex mRNA,protein:increased expression:Kidney Glomerulus
RGD
PMID:11259366 PMID:16868749
RGD:2311412 RGD:2311416
NCBI chr 1:178,942,472...178,953,158
Ensembl chr 1:183,238,130...183,244,074
G
FN1
fibronectin 1
treatment
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:nephron tubule (human) associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney protein:increased expression:kidney cortex:
CTD RGD
PMID:16301823 PMID:22736507 PMID:24413998 PMID:35592524
RGD:10402169 RGD:401851916 RGD:7206843
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
G
FTO
FTO alpha-ketoglutarate dependent dioxygenase
susceptibility
ISO
associated with type 2 diabetes mellitus;DNA:SNP: :rs7204609 (human) associated with type 2 diabetes mellitus;DNA:SNPs: :rs1121980, rs1421085, rs17817449 (human) associated with diabetes mellitus;DNA:SNP: :rs17817449 (human)
RGD
PMID:29154870 PMID:29410390 PMID:34134115
RGD:329813082 RGD:329813084 RGD:329901856
NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231
G
FUCA1
alpha-L-fucosidase 1
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased activity;urine
RGD
PMID:8343614
RGD:2315943
NCBI chr 1:23,039,126...23,060,514
Ensembl chr 1:24,022,967...24,043,850
G
G6PD
glucose-6-phosphate dehydrogenase
treatment
ISO
associated with Hypertension
RGD
PMID:21987533
RGD:10449128
NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
G
GAS6
growth arrest specific 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12644472
Ensembl chr13:113,968,843...114,009,562
G
GATM
glycine amidinotransferase
ISO
RGD
PMID:26364511
RGD:329961310
NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
G
GFPT1
glutamine--fructose-6-phosphate transaminase 1
ISO
RGD
PMID:9519709
RGD:2313353
NCBI chr2A:69,363,229...69,430,182
Ensembl chr2A:70,488,763...70,551,141
G
GFPT2
glutamine-fructose-6-phosphate transaminase 2
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr
RGD
PMID:14764791
RGD:2307362
NCBI chr 5:175,504,272...175,558,610
Ensembl chr 5:182,815,719...182,869,823
G
GHR
growth hormone receptor
susceptibility
ISO
associated with Diabetes Mellitus associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney
RGD
PMID:10541297 PMID:10614635 PMID:10990443 PMID:15066219
RGD:2307364 RGD:2307368 RGD:2307369 RGD:2307370
NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
G
GIPR
gastric inhibitory polypeptide receptor
ISO
RGD
PMID:19211686
RGD:2306734
NCBI chr19:42,673,553...42,688,059
Ensembl chr19:51,213,090...51,225,293
G
GLO1
glyoxalase I
ISO
DNA:SNP:promoter:-7C>T (human)
RGD
PMID:21738003
RGD:7242569
NCBI chr 6:38,247,881...38,275,098
Ensembl chr 6:39,434,746...39,461,971
G
GPX1
glutathione peroxidase 1
treatment
ISO
associated with Diabetes Mellitus, Type 1 associated with Experimental Diabetes Mellitus protein:increased expression:glomerulus
RGD
PMID:16249459 PMID:17609286 PMID:32592386
RGD:11068479 RGD:2306609 RGD:401827869
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
G
GPX3
glutathione peroxidase 3
treatment
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:serum (human) associated with Experimental Diabetes Mellitus
RGD
PMID:17269729 PMID:32592386
RGD:2312635 RGD:401827869
NCBI chr 5:146,447,939...146,456,476
G
GRK2
G protein-coupled receptor kinase 2
treatment
ISO
RGD
PMID:23196710
RGD:13792785
NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066
G
GRK3
G protein-coupled receptor kinase 3
treatment
ISO
RGD
PMID:23196710
RGD:13792785
NCBI chr22:6,579,664...6,789,846
Ensembl chr22:24,353,533...24,509,560
G
GRK4
G protein-coupled receptor kinase 4
ISO
protein:decreased expression:cortex of kidney (rat)
RGD
PMID:23196710
RGD:13792785
NCBI chr 4:3,106,064...3,181,270
Ensembl chr 4:3,008,126...3,083,094
G
GRK6
G protein-coupled receptor kinase 6
treatment
ISO
RGD
PMID:23196710
RGD:13792785
NCBI chr 5:172,704,978...172,744,907
Ensembl chr 5:179,790,662...179,807,410
G
GSK3B
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:26888388
RGD:13792773
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
G
GSR
glutathione-disulfide reductase
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2;protein:decreased activity:kidney
RGD
PMID:23626958 PMID:24947049
RGD:10401899 RGD:7257582
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
G
GSTM1
glutathione S-transferase mu 1
no_association
ISO
associated with Diabetes Mellitus, Type 1;DNA:deletion:cds: (human)
RGD
PMID:19752172
RGD:7495818
Ensembl chr 1:127,979,238...128,010,411
G
HAS2
hyaluronan synthase 2
ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal medulla
RGD
PMID:18441392
RGD:9588630
NCBI chr 8:118,313,186...118,342,160
Ensembl chr 8:121,072,154...121,089,365
G
HAVCR1
hepatitis A virus cellular receptor 1
disease_progression
ISO
associated with Diabetes Mellitus,Type 2;protein:increased expression:urine: protein:increased expression:plasma associated with Diabetes mellitus, Type 1;
RGD
PMID:20980978 PMID:22015481 PMID:22997966
RGD:7245497 RGD:7245960 RGD:7246890
NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
G
HDAC2
histone deacetylase 2
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:24717296
RGD:9590311
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
G
HDAC4
histone deacetylase 4
treatment
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:24717296
RGD:9590311
NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
G
HDAC5
histone deacetylase 5
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:24717296
RGD:9590311
NCBI chr17:13,273,052...13,319,695
Ensembl chr17:13,446,836...13,479,140
G
HFE
homeostatic iron regulator
ISO
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:15347835
RGD:8694362
NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
G
HGF
hepatocyte growth factor
ISO
RGD
PMID:16340242
RGD:2313567
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
G
HIF1A
hypoxia inducible factor 1 subunit alpha
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2
RGD
PMID:17914354 PMID:17967803
RGD:10395374 RGD:10395377
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
G
HMOX1
heme oxygenase 1
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21849637
RGD:10755581
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
G
HNF4A
hepatocyte nuclear factor 4 alpha
ISO
mRNA:decreased expression:kidney, liver
RGD
PMID:18184923
RGD:2301838
NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536
G
HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
susceptibility
ISO
DNA:SNO:intron: (rs17389016, rs11799643) (human)
RGD
PMID:32453474
RGD:329902062
NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765
G
HSPA1A
heat shock protein family A (Hsp70) member 1A
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:18518860
RGD:7242747
NCBI chr 6:31,476,710...31,491,411
G
HSPA1B
heat shock protein family A (Hsp70) member 1B
ISO
RGD
PMID:18518860
RGD:7242747
NCBI chr 6:31,488,882...31,491,412
G
HSPA5
heat shock protein family A (Hsp70) member 5
ISO
associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney
RGD
PMID:19301230
RGD:2311449
NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
G
HSPA8
heat shock protein family A (Hsp70) member 8
ISO
RGD
PMID:17330940
RGD:7242762
NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
G
HSPB1
heat shock protein family B (small) member 1
ISO
mRNA,protein:increased expression:glomerulus: protein:increased expression:glomerulus, podocyte:
RGD
PMID:21931298
RGD:10402764
NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
G
HTR2A
5-hydroxytryptamine receptor 2A
ISO
associated with Diabetes Mellitus Type 2; associated with Diabetes Mellitus, Experimental;
RGD
PMID:12213354 PMID:18175064
RGD:7257686 RGD:7257687
NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
G
ICAM1
intercellular adhesion molecule 1
ISO
associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.K469E (rs5498) (human) associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney (mouse)
RGD
PMID:18299691 PMID:18505543 PMID:19246972 PMID:20447389
RGD:2312766 RGD:2313470 RGD:2313475 RGD:4145414
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
G
IFNG
interferon gamma
ISO
mRNA, protein:increased expression:kidney, T cell
RGD
PMID:22286547
RGD:6893364
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
G
IGF1
insulin like growth factor 1
ISO
protein:decreased expression:serum associated with Diabetes Mellitus, Experimental;protein:decreased expression:serum (rat)
RGD
PMID:10444029 PMID:17194636
RGD:12904967 RGD:2313764
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
G
IGF1R
insulin like growth factor 1 receptor
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:19008912
RGD:10046022
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
G
IGF2
insulin like growth factor 2
ISO
associated with Diabetes Mellitus, Type 2; associated with Diabetes Mellitus, Type 2; mRNA:decreased expression:neural tissue, liver: associates with Diabetes Mellitus; mRNA:decreased expression:brain:
RGD
PMID:8764603 PMID:9336345
RGD:5510019 RGD:5510022
NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
G
IGFBP1
insulin like growth factor binding protein 1
ISO
DNA:SNPs
RGD
PMID:16306374
RGD:1625238
NCBI chr 7:46,538,566...46,545,536
Ensembl chr 7:46,658,097...46,662,584
G
IL10
interleukin 10
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human)
RGD
PMID:19031431
RGD:2308943
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
G
IL1B
interleukin 1 beta
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2
RGD
PMID:19769609 PMID:22086159
RGD:7175266 RGD:7175519
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
IL1RN
interleukin 1 receptor antagonist
no_association susceptibility
ISO
associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:16174285 PMID:17286233
RGD:6907371 RGD:6909120
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
G
IL6
interleukin 6
susceptibility
ISO
associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney (rat)
RGD
PMID:18716362 PMID:19052104 PMID:19542902
RGD:2307281 RGD:2307282 RGD:7829816
NCBI chr 7:23,415,922...23,420,767
G
INS
insulin
resistance
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:2143390 PMID:7713310 PMID:7987072 PMID:22068113
RGD:6902908
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
G
IRS2
insulin receptor substrate 2
ISO
mRNA:increased expression:kidney tubule:
RGD
PMID:23617393
RGD:7257702
NCBI chr13:90,886,095...90,917,724
G
ITGA2
integrin subunit alpha 2
severity
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:mesangial cell (human)
RGD
PMID:8989742
RGD:2307420
NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720
G
ITGB2
integrin subunit beta 2
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963
G
JAK2
Janus kinase 2
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22745068
RGD:10403082
NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
G
KCNN4
potassium calcium-activated channel subfamily N member 4
ameliorates
ISO
RGD
PMID:24733189 PMID:29425253
RGD:329955448 RGD:329969879
NCBI chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900
G
KDM6A
lysine demethylase 6A
ISO
associated with Diabetes Mellitus, Type 1;protein:increased expression:kidney (mouse)
RGD
PMID:23508046
RGD:9587808
NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029
G
KDR
kinase insert domain receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18630688
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
G
KEAP1
kelch like ECH associated protein 1
ISO
RGD
PMID:21439372
RGD:6893386
NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
G
KL
klotho
treatment
ISO
protein:decreased expression:kidney:
RGD
PMID:24136780
RGD:10403079
NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458
G
KLK1
kallikrein 1
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:17272402 PMID:19516248
RGD:1641794
NCBI chr19:47,784,368...47,789,004
Ensembl chr19:56,677,579...56,682,216
G
KLKB1
kallikrein B1
disease_progression
ISO
associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma:
RGD
PMID:12716755
RGD:7327151
NCBI chr 4:178,398,359...178,429,448
Ensembl chr 4:190,604,901...190,636,300
G
KNG1
kininogen 1
ISO
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :7965C>T (human)
RGD
PMID:17065357
RGD:2311541
NCBI chr 3:183,751,598...183,778,655
Ensembl chr 3:192,219,462...192,245,149
G
LAMB2
laminin subunit beta 2
ISO
RGD
PMID:19864299
RGD:7207449
NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074
G
LCN2
lipocalin 2
ISO
protein:increased expression:urine associated with Diabetes Mellitus,Type 2;protein:increased expression:urine:
RGD
PMID:22015481 PMID:22997966
RGD:7245497 RGD:7245960
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
G
LEP
leptin
ISO
RGD
PMID:22773754
RGD:6907074
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
G
LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:cds: : (rat)
CTD RGD
PMID:28130181 PMID:28746409 PMID:29988851 PMID:36066211
RGD:401965413
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
G
LMNA
lamin A/C
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human)
RGD
PMID:16117820
RGD:2306095
NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
G
LNPEP
leucyl and cystinyl aminopeptidase
ISO
RGD
PMID:1789335
RGD:2311543
NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876
G
LOC100968989
HLA class II histocompatibility antigen, DM alpha chain
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr 6:32,518,060...32,537,989
Ensembl chr 6:33,634,123...33,637,988
G
LOC100980531
eotaxin
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:21113841
RGD:5683918
NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345 Ensembl chr17:22,806,076...22,808,345
G
LOC100982859
class I histocompatibility antigen, Gogo-B*0101 alpha chain
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
G
LOC100986914
cytochrome b-245 light chain
ISO
associated with Diabetes Mellitus, Type 2;DNA:SNP: :242C>T (human)
RGD
PMID:14747204
RGD:8695982
NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719
G
LOC100987081
HLA class II histocompatibility antigen, DR alpha chain
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr 6:32,105,421...32,110,579
Ensembl chr 6:32,982,228...32,987,417
G
LOC100991392
serine protease 2
ISO
protein:increased expression:urine
RGD
PMID:18428024
RGD:2324899
NCBI chr 7:134,761,471...134,765,816
Ensembl chr 7:147,223,606...147,257,587
G
LOC100995226
HLA class II histocompatibility antigen, DP beta 1 chain
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
G
LPL
lipoprotein lipase
susceptibility
ISO
RGD
PMID:16813599
RGD:2306755
NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
G
LTA
lymphotoxin alpha
ISO
DNA:polymorphism
RGD
PMID:18575614
RGD:2313255
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
G
MAPK1
mitogen-activated protein kinase 1
ISO
RGD
PMID:19923143
RGD:7243957
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
G
MAPK14
mitogen-activated protein kinase 14
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activity:kidney
RGD
PMID:19066844
RGD:2311566
NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114
G
MDK
midkine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17607302
NCBI chr11:46,339,365...46,342,388
Ensembl chr11:46,891,540...46,893,254
G
MFN2
mitofusin 2
treatment
ISO
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:26123583 PMID:27997345
RGD:11053290 RGD:12910740
NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
G
MHC-DMB
HLA class II histocompatibility antigen, DM beta chain
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr 6:32,504,074...32,510,669
Ensembl chr 6:33,619,870...33,625,685
G
MLLT3
MLLT3 super elongation complex subunit
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23077601
RGD:9686143
NCBI chr 9:20,140,160...20,417,327
Ensembl chr 9:20,800,393...21,073,046
G
MMP12
matrix metallopeptidase 12
ISO
RGD
PMID:21277817
RGD:7241216
NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
G
MMP2
matrix metallopeptidase 2
treatment ameliorates
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23384615 PMID:37643020
RGD:13204971 RGD:401827835
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
G
MMP3
matrix metallopeptidase 3
ISO
protein: decreased expression: glomerulus
RGD
PMID:9211353
RGD:7241249
NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
G
MMP9
matrix metallopeptidase 9
treatment
ISO
associated with Diabetes Mellitus, Type 2;DNA:repeat:promoter associated with Diabetes Mellitus, Experimental
RGD
PMID:11576356 PMID:23384615
RGD:13204971 RGD:8547866
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
G
MTHFR
methylenetetrahydrofolate reductase
no_association susceptibility
ISO
associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)
RGD
PMID:14737040 PMID:18280442
RGD:6893524 RGD:6893576
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
G
MTOR
mechanistic target of rapamycin kinase
susceptibility
ISO
DNA:SNP,haplotype: :rs7212142(human) associated with Diabetes Mellitus, Experimental
RGD
PMID:21606597 PMID:23827786 PMID:28536139
RGD:10003168 RGD:13506787 RGD:7245564
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
G
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
ISO
Associated with Diabetes Mellitus, Type 1;DNA:SNP:cds:66A>G, (rs1801394) (human)
RGD
PMID:18774994
RGD:6893652
NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322
G
NAT2
N-acetyltransferase 2
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:10591543
RGD:2311598
NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
G
NDUFS3
NADH:ubiquinone oxidoreductase core subunit S3
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney,glomerulus
RGD
PMID:22591908 PMID:22903132
RGD:13792578 RGD:8552684
NCBI chr11:47,528,680...47,534,206
Ensembl chr11:48,078,332...48,083,863
G
NFATC1
nuclear factor of activated T cells 1
ISO
protein:increased expression:nucleus
RGD
PMID:26481166
RGD:329337345
NCBI chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453
G
NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: therapeutic
RGD CTD
PMID:20103708 PMID:21439372 PMID:23064900
RGD:10412718 RGD:6893386
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
G
NOS1
nitric oxide synthase 1
treatment
ISO
associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Experimental
RGD
PMID:10966937 PMID:23548923
RGD:13824991 RGD:7257655
NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
G
NOS3
nitric oxide synthase 3
no_association susceptibility treatment
ISO
associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10741691 PMID:10868974 PMID:20042665 PMID:29336891
RGD:13504726 RGD:7421530 RGD:7421534
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
G
NOX4
NADPH oxidase 4
ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney cortex
RGD
PMID:16135519 PMID:17511984
RGD:2324670 RGD:2324673
NCBI chr11:84,330,362...84,496,755
G
NPHS1
NPHS1 adhesion molecule, nephrin
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;protein:decreased expression:kidney (mouse)
RGD
PMID:17624267 PMID:21617141 PMID:24173355 PMID:30862474
RGD:38596322 RGD:38596325 RGD:38599008 RGD:7241083
NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
G
NPPA
natriuretic peptide A
disease_progression no_association
ISO
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :2238T>C (human) DNA:polymorphism:intron associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:blood associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:9681733 PMID:10381153 PMID:10404802 PMID:15111511
RGD:2313590 RGD:2313592 RGD:2313593 RGD:7247731
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
G
NPPB
natriuretic peptide B
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:10404802 PMID:16917760
RGD:7247731 RGD:7248603
NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
G
NQO1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21457706
RGD:11035226
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
G
NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
RGD
PMID:20557422
RGD:4891134
NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678
G
PARP1
poly(ADP-ribose) polymerase 1
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:20621183
RGD:11073737
NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
G
PAX2
paired box 2
ISO
associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney cortex
RGD
PMID:15149326
RGD:2316747
NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
G
PDGFA
platelet derived growth factor subunit A
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:increased expression:kidney
RGD
PMID:12808179
RGD:2311649
NCBI chr 7:648,722...672,023
G
PDGFB
platelet derived growth factor subunit B
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent
RGD
PMID:15067514
RGD:2311646
NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
G
PDGFRA
platelet derived growth factor receptor alpha
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
G
PDGFRB
platelet derived growth factor receptor beta
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent
RGD
PMID:15067514
RGD:2311646
NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
G
PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:glomerulus
RGD
PMID:15042541
RGD:2311655
NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
G
PGF
placental growth factor
disease_progression
ISO
associated with Diabetes Mellitus, Type 1
RGD
PMID:21988672
RGD:6483606
NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964
G
PLAT
plasminogen activator, tissue type
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16598198
RGD:2311671
NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
G
PLAU
plasminogen activator, urokinase
ISO
mRNA:increased expression:renal glomerulus (rat)
RGD
PMID:15322501
RGD:1580123
NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
G
PON1
paraoxonase 1
no_association susceptibility
ISO
associated with Diabetes Mellitus;DNA:missense mutations:cds:p.L55M, p.Q192R (rs854560, rs662) (human) associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) associated with Diabetes Mellitus, Non-Insulin-Dependent CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15270786 PMID:19207863 PMID:24100645 PMID:26884296
RGD:2313266 RGD:8547548 RGD:8547572
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
G
PON2
paraoxonase 2
ISO
associated with type 1 diabetes mellitus;DNA:missense mutation:cds:p.C311S (human) associated with type 2 diabetes mellitus;DNA:polymorphisms:multiple
RGD
PMID:11206400 PMID:11918623
RGD:1580218 RGD:2313492
NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
G
POSTN
periostin
ISO
mRNA,protein:increased expression:kidney:
RGD
PMID:22167593
RGD:10040972
NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212
G
PPARG
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD RGD
PMID:18388116 PMID:18780770 PMID:28182703
RGD:2301845 RGD:2301862
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
G
PPARGC1A
PPARG coactivator 1 alpha
ISO
DNA:polymorphism:exon:p.G482S (human) mRNA:decreased expression:kidney (human)
RGD
PMID:19900151 PMID:21784897
RGD:7242027 RGD:7242045
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
G
PRKCB
protein kinase C beta
ISO
associated with hypertension;protein:increased expression:glomerular mesangium mRNA:increased expression:nephron tubule (human)
RGD
PMID:12540629 PMID:35592524
RGD:401851916 RGD:729635
NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203
G
PRKCE
protein kinase C epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20665664
NCBI chr2A:45,757,629...46,294,064
Ensembl chr2A:46,688,436...47,220,313
G
PRMT1
protein arginine methyltransferase 1
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:23159951
RGD:9491822
NCBI chr19:46,691,795...46,705,179
Ensembl chr19:55,610,938...55,623,135
G
PROS1
protein S
severity treatment
ISO
associated with diabetes mellitus, experimental;mRNA, protein:increased expression:kidney, glomerulus
RGD
PMID:29511111
RGD:13515131
NCBI chr 3:90,934,641...91,039,059
Ensembl chr 3:97,615,734...97,718,756
G
PTEN
phosphatase and tensin homolog
ISO
protein:decreased expression:kidney cortex, glomerulus
RGD
PMID:16804083
RGD:2292546
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
G
PTGDS
prostaglandin D2 synthase
susceptibility
ISO
RGD
PMID:15970590
RGD:1642581
NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:17112505 PMID:21441310
RGD:5135032 RGD:5688268
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
G
PTH
parathyroid hormone
ISO
DNA:snps:exon, intron:g.350C>A, g.IVS2+56G>A (rs6256, rs6254) (human)
RGD
PMID:22777106
RGD:7242744
NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
G
RBP4
retinol binding protein 4
disease_progression
ISO
associated with type 2 diabetes mellitus; protein:increased expression:blood plasma, urine (human)
RGD
PMID:17568782
RGD:329845581
NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
G
RELA
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17900838
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
G
REN
renin
ISO
RGD
PMID:15489960
RGD:1579795
NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
G
RETN
resistin
ISO
RGD
PMID:21425555
RGD:7207159
NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
G
RHOA
ras homolog family member A
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr 3:49,282,009...49,339,887
G
SELP
selectin P
severity
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney, serum
RGD
PMID:18026823 PMID:18471420
RGD:2312294 RGD:2312302
NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701
G
SERPINB7
serpin family B member 7
ISO
associated with Diabetes Mellitus, Type 1 associated with Diabetes Mellitus, Type 2;DNA:SNP:intron:rs1720843 (human)
RGD
PMID:16443768 PMID:19690890
RGD:7207374 RGD:7207378
NCBI chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165
G
SERPINE1
serpin family E member 1
treatment
ISO
associated with Diabetes Mellitus, Experimental associate with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus, mesangial cell (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10809802 PMID:15322501 PMID:18682491 PMID:26712211
RGD:11073694 RGD:1580123 RGD:8547711
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
G
SERPINF1
serpin family F member 1
treatment
ISO
human protein in a mouse model mRNA, protein:decreased expression:renal cortex, renal medulla (rat) associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma (human)
RGD
PMID:15616035 PMID:18523656 PMID:23884140
RGD:1359799 RGD:8554865 RGD:8554896
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
G
SLC2A1
solute carrier family 2 member 1
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2;DNA:SNP:exon:g.20882C>T (human)
RGD
PMID:15745834 PMID:22707888 PMID:26337659
RGD:12879466 RGD:12879861 RGD:2312305
NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
G
SMAD6
SMAD family member 6
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:17437042
RGD:2289036
NCBI chr15:45,648,709...45,728,821
Ensembl chr15:63,923,379...64,001,154
G
SOCS1
suppressor of cytokine signaling 1
treatment
ISO
RGD
PMID:31599432
RGD:151347182
NCBI chr16:10,196,432...10,198,205
G
SOD1
superoxide dismutase 1
ISO
protein:decreased expression:kidney associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple human gene in a mouse model
RGD
PMID:11522679 PMID:17914031 PMID:19470681
RGD:2312361 RGD:2312365 RGD:8655571
NCBI chr21:18,029,831...18,037,526
G
SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17192491 PMID:24819633
RGD:7175540
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
G
SOD3
superoxide dismutase 3
ISO
protein:decreased expression:kidney
RGD
PMID:19470681
RGD:2312361
NCBI chr 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781
G
SPARC
secreted protein acidic and cysteine rich
ISO
associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:kidney
RGD
PMID:8569083
RGD:2300072
NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
G
SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:12032186
RGD:1581328
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
G
SREBF1
sterol regulatory element binding transcription factor 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney associated with Diabetes Mellitus, Experimental
RGD
PMID:16046298 PMID:16936198 PMID:17961514 PMID:18613221
RGD:1581418 RGD:2308806 RGD:2308811 RGD:2308815
NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
G
SREBF2
sterol regulatory element binding transcription factor 2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney
RGD
PMID:16046298 PMID:16936198
RGD:1581418 RGD:2308815
NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
G
STAT3
signal transducer and activator of transcription 3
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22745068
RGD:10403082
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
G
TCF7L2
transcription factor 7 like 2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP (human)
RGD
PMID:19506043
RGD:6906926
NCBI chr10:109,541,524...109,759,499
Ensembl chr10:112,978,167...113,192,281
G
TF
transferrin
ISO
RGD
PMID:23468095
RGD:7244196
NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
G
TGFB1
transforming growth factor beta 1
treatment
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:glomerulus associated with Diabetes Mellitus, Experimental
CTD RGD
PMID:18682491 PMID:19211686 PMID:19960420 PMID:24074026
RGD:2306734 RGD:7394855
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
G
TGFBI
transforming growth factor beta induced
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12911551 PMID:18682491
RGD:1304421
NCBI chr 5:131,420,403...131,455,265
Ensembl chr 5:137,559,321...137,596,392
G
TGFBR2
transforming growth factor beta receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15496156
NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
G
TGIF1
TGFB induced factor homeobox 1
ISO
protein:decreased expression:glomerulus (rat)
RGD
PMID:15153551
RGD:1599409
NCBI chr18:10,819,015...10,830,282
Ensembl chr18:13,128,359...13,139,145
G
THBS1
thrombospondin 1
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:17878288
RGD:2317941
NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170
G
TIMP2
TIMP metallopeptidase inhibitor 2
ISO
mRNA:increased expression:kidney
RGD
PMID:17491697
RGD:2290407
NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
G
TINAG
tubulointerstitial nephritis antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19634143
NCBI chr 6:53,861,919...53,945,740
Ensembl chr 6:55,499,752...55,581,273
G
TLR2
toll like receptor 2
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21617141
RGD:7241083
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
G
TLR4
toll like receptor 4
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22021706
RGD:7207902
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
G
TNF
tumor necrosis factor
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Experimental;protein:increased expression:urine
RGD
PMID:12969138 PMID:16141456 PMID:16336586 PMID:21441310
RGD:1580208 RGD:1580296 RGD:1580311 RGD:5135032
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
TNFAIP1
TNF alpha induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20665664
NCBI chr17:28,427,448...28,438,826
Ensembl chr17:28,929,788...28,941,278
G
TNFRSF11B
TNF receptor superfamily member 11b
treatment disease_progression
ISO
associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Type 1
RGD
PMID:18719882 PMID:20727867
RGD:7205493 RGD:7205514
NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
G
TNFRSF1A
TNF receptor superfamily member 1A
ISO
associated with Diabetes Mellitus, Type 1;protein:increased expression:serum associated with Diabetes Mellitus, Type 2
RGD
PMID:19073786 PMID:22042131
RGD:2311357 RGD:7245547
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
G
TNFRSF1B
TNF receptor superfamily member 1B
onset
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum associated with Diabetes Mellitus, Type 1 associated with Diabetes Mellitus, Type 1;protein:increased expression:serum
RGD
PMID:16408124 PMID:19073786 PMID:22266664
RGD:2311357 RGD:7245476 RGD:7245529
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
G
TNFSF10
TNF superfamily member 10
ISO
protein:increased expression:kidney
RGD
PMID:18287563
RGD:2312739
NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137
G
TP53
tumor protein p53
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:17901943
RGD:2290561
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
G
TREM1
triggering receptor expressed on myeloid cells 1
treatment
ISO
protein:increased expression:kidney interstitium
RGD
PMID:29331667 PMID:30478987
RGD:127229931 RGD:127284861
NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
G
TRIP10
thyroid hormone receptor interactor 10
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:26097534
RGD:11535148
NCBI chr19:5,772,225...5,784,078
Ensembl chr19:6,693,646...6,705,399
G
TRPC1
transient receptor potential cation channel subfamily C member 1
ISO
mRNA:decreased expression:kidney, liver
RGD
PMID:18184923
RGD:2301838
NCBI chr 3:139,757,408...139,841,006
Ensembl chr 3:147,349,056...147,432,332
G
TRPC6
transient receptor potential cation channel subfamily C member 6
treatment induces
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22673147 PMID:29923767
RGD:149735534 RGD:7247584
NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
G
TXNIP
thioredoxin interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17582205
NCBI chr 1:121,763,312...121,767,468
G
UBA52
ubiquitin A-52 residue ribosomal protein fusion product 1
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:urine (human)
RGD
PMID:17634209
RGD:2311211
NCBI chr19:18,040,946...18,052,445
G
UCP1
uncoupling protein 1
no_association
ISO
DNA:SNP: :-3826A>G (human)
RGD
PMID:15120704
RGD:7247625
NCBI chr 4:132,921,033...132,930,714
Ensembl chr 4:144,230,858...144,240,178
G
UCP2
uncoupling protein 2
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22848482
RGD:7175295
NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
G
UTS2
urotensin 2
disease_progression
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:urine associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney mRNA:increased expression:kidney
RGD
PMID:15476950 PMID:15492948 PMID:18796544
RGD:2306786 RGD:2306805 RGD:2306806
NCBI chr 1:6,609,104...6,616,966
Ensembl chr 1:7,854,687...7,864,688
G
UTS2R
urotensin 2 receptor
ISO
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney mRNA:increased expression:kidney
RGD
PMID:15492948 PMID:18796544
RGD:2306786 RGD:2306805
NCBI chr17:76,783,432...76,788,639
Ensembl chr17:82,592,312...82,593,702
G
VCAM1
vascular cell adhesion molecule 1
ISO
associated with Diabetes Mellitus,Type 1;protein:increased expression:plasma: protein:increased expression:kidney
RGD
PMID:20138682 PMID:23303408
RGD:7240523 RGD:7241237
NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
G
VDAC1
voltage dependent anion channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19634143
NCBI chr 5:129,375,267...129,408,230
Ensembl chr 5:135,529,173...135,560,005
G
VDAC2
voltage dependent anion channel 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19634143
NCBI chr10:71,739,395...71,763,835
G
VEGFA
vascular endothelial growth factor A
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15610240 PMID:18630688
RGD:2313731
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
G
VTN
vitronectin
ISO
associated with Diabetes Mellitus, Experimental;protein:increased expression:glomerulus
RGD
PMID:11728964
RGD:10003096
NCBI chr17:28,403,813...28,407,202
Ensembl chr17:28,906,508...28,909,583
G
VWF
von Willebrand factor
ISO
mRNA:increased expression:nephron tubule (human)
RGD
PMID:35592524
RGD:401851916
NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
G
XDH
xanthine dehydrogenase
treatment
ISO
associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Experimental
RGD
PMID:19458127 PMID:22302365
RGD:7247644 RGD:7247651
NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
G
XYLT1
xylosyltransferase 1
ISO
associated with Diabetes Mellitus, Insulin-Dependent;DNA:missense mutation:cds:p.A115S (human)
RGD
PMID:17003309
RGD:2313138
NCBI chr16:20,078,904...20,447,268
Ensembl chr16:17,222,447...17,470,818
G
YY1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35445903
NCBI chr14:80,859,491...80,903,651
G
ADRA2B
adrenoceptor alpha 2B
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism (human)
RGD
PMID:17516297
RGD:2313542
NCBI chr2A:103,198,432...103,202,506
Ensembl chr2A:97,040,126...97,041,472
G
AGER
advanced glycosylation end-product specific receptor
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22171162
RGD:8695979
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
G
AKR1B1
aldo-keto reductase family 1 member B
susceptibility
ISO
associated with Diabetes Mellitus, Type 1;DNA:repeat:promoter:g.(CA)n (human) associated with Diabetes Mellitus, Experimental
RGD
PMID:9489533 PMID:16900242
RGD:1626089 RGD:8548642
NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095
G
ALDH2
aldehyde dehydrogenase 2 family member
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:15318096
RGD:2311150
NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
G
ALOX15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:20724598
RGD:5509623
NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
G
BAD
BCL2 associated agonist of cell death
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:24288572
RGD:10053667
NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
G
BDKRB1
bradykinin receptor B1
ISO
RGD
PMID:20587056
RGD:5129222
NCBI chr14:76,885,923...76,894,456
G
BDNF
brain derived neurotrophic factor
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:20557422
RGD:4891134
NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
G
BECN1
beclin 1
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:25824552
RGD:11561957
NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
G
CASP3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental;protein:increased expresssion:sciatic nerve
CTD RGD
PMID:12502508 PMID:19555701
RGD:2311441
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
G
CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10780678
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
CAV1
caveolin 1
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:19675140
RGD:8661787
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
G
CCL5
C-C motif chemokine ligand 5
ISO
associated with Diabetes Mellitus;protein:increased expression:serum
RGD
PMID:19276232
RGD:2307060
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
G
CD63
CD63 molecule
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:platelet
RGD
PMID:10547212
RGD:2314203
NCBI chr12:33,181,896...33,186,123
Ensembl chr12:33,906,314...33,910,595
G
CHRM2
cholinergic receptor muscarinic 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20624991
NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796
G
CNR1
cannabinoid receptor 1
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:18810243
RGD:2314631
NCBI chr 6:86,017,141...86,044,889
G
EPO
erythropoietin
ISO
associated with Diabetes Mellitus, Experimental;
RGD
PMID:19244253
RGD:2313834
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
G
F7
coagulation factor VII
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:plasma (human)
RGD
PMID:10468085
RGD:2312401
NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995
G
FGF2
fibroblast growth factor 2
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:16644707
RGD:2315860
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
G
FTO
FTO alpha-ketoglutarate dependent dioxygenase
susceptibility
ISO
associated with type 2 diabetes mellitus;DNA:SNP: :rs17817449 (human)
RGD
PMID:29154870
RGD:329813082
NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231
G
GGT1
gamma-glutamyltransferase 1
ISO
associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum
RGD
PMID:11311965
RGD:2315614
NCBI chr22:5,424,334...5,469,705
G
GHRL
ghrelin and obestatin prepropeptide
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:19733151
RGD:2313744
NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
G
GRM5
glutamate metabotropic receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19840219
NCBI chr11:83,514,978...84,077,650
Ensembl chr11:87,107,788...87,868,953
G
HGF
hepatocyte growth factor
ISO
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: therapeutic
RGD CTD
PMID:15734864 PMID:26000320
RGD:2313570
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
G
HHIP
hedgehog interacting protein
ISO
RGD
PMID:19515211
RGD:11552601
NCBI chr 4:136,989,818...137,085,407
Ensembl chr 4:148,651,597...148,744,619
G
IFNG
interferon gamma
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :874A>T (human)
RGD
PMID:19608431
RGD:2311489
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
G
IGF1
insulin like growth factor 1
treatment
ISO
protein:decreased expression:serum associated with Diabetes Mellitus, Experimental
RGD
PMID:17194636 PMID:18545223 PMID:19264110
RGD:2306687 RGD:2313764 RGD:8549454
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
G
IL1B
interleukin 1 beta
treatment
ISO
RGD
PMID:23280817
RGD:7401217
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
INSR
insulin receptor
ISO
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental;protein:decreased phosphorylation:sciatic nerve
CTD RGD
PMID:18331706
RGD:2307344
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
G
LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24263156
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
G
LRRK2
leucine rich repeat kinase 2
ISO
associated with Diabetes Mellitus, Experimental;protein:increased expression:cerebellum, Purkinje cell
RGD
PMID:24810053
RGD:13462056
NCBI chr12:48,343,621...48,488,337
Ensembl chr12:49,205,930...49,350,462
G
MAPK14
mitogen-activated protein kinase 14
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:18579738
RGD:2311567
NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114
G
MBP
myelin basic protein
ISO
associated with Diabetes Mellitus, Experimental; protein:decreased expression:sciatic nerve:
RGD
PMID:23735240
RGD:7327194
NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351
G
MME
membrane metalloendopeptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20148083
NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
G
MMP2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20213226
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
G
MMP9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20213226
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
G
MPZ
myelin protein zero
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22158827
RGD:9685782
NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273
G
NGF
nerve growth factor
ISO
mRNA,protein:decreased expression:sciatic nerve
RGD
PMID:12469361
RGD:5508379
NCBI chr 1:87,223,597...87,276,759
G
NGFR
nerve growth factor receptor
ISO
mRNA,protein:decreased expression:dorsal root ganglia (GK/KyoSwe)
RGD
PMID:12469361
RGD:5508379
NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
G
NOS2
nitric oxide synthase 2
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:18802679
RGD:2313218
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
G
NRG1
neuregulin 1
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:24288572
RGD:10053667
NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
G
NTF3
neurotrophin 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11779407
NCBI chr12:5,551,734...5,615,981
Ensembl chr12:5,530,508...5,533,989
G
NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
mRNA,protein:decreased expression:dorsal root ganglia
RGD
PMID:12469361
RGD:5508379
Ensembl chr 1:136,007,476...136,047,355
G
PARP1
poly(ADP-ribose) polymerase 1
ISO
RGD
PMID:17976390 PMID:21978940
RGD:5510012 RGD:5683915
NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
G
PGF
placental growth factor
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21056561
RGD:6483583
NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964
G
PLAT
plasminogen activator, tissue type
ISO
RGD
PMID:17636064
RGD:2311667
NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:peripheral nerve
RGD
PMID:17720896 PMID:21951301
RGD:1642588 RGD:5508311
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
G
RETN
resistin
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:17919381
RGD:7207161
NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
G
SGK1
serum/glucocorticoid regulated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16696316
NCBI chr 6:131,936,397...132,082,670
Ensembl chr 6:136,033,851...136,180,121
G
SORD
sorbitol dehydrogenase
resistance
ISO
RGD
PMID:15755558
RGD:1601362
NCBI chr15:23,971,017...24,025,043
G
SREBF1
sterol regulatory element binding transcription factor 1
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:19423844
RGD:2308808
NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
G
TGFB1
transforming growth factor beta 1
ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16696316 PMID:18406405
RGD:2302086
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
G
TGFB2
transforming growth factor beta 2
ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion
RGD
PMID:18406405
RGD:2302086
NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041
G
TGFB3
transforming growth factor beta 3
ISO
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:sciatic nerve
RGD
PMID:18406405
RGD:2302086
NCBI chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412
G
TLR4
toll like receptor 4
susceptibility
ISO
associated with Diabetes Mellitus, Experimental; CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms: :p.N299G, p.T399I (human)
RGD CTD
PMID:14693986 PMID:22910613
RGD:2312493 RGD:7777098
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
G
TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:23280817
RGD:7401217
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
TRPA1
transient receptor potential cation channel subfamily A member 1
ISO
RGD
PMID:22133672
RGD:10043378
NCBI chr 8:68,551,685...68,605,336
Ensembl chr 8:70,210,352...70,262,627
G
UCP2
uncoupling protein 2
susceptibility
ISO
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-866G>A (rs659366)(human)
RGD
PMID:16373902
RGD:2313516
NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
G
UCP3
uncoupling protein 3
susceptibility
ISO
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-55C>T (human)
RGD
PMID:16373902
RGD:2313516
NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274
G
USP15
ubiquitin specific peptidase 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35478295
NCBI chr12:26,533,441...26,682,964
Ensembl chr12:26,808,337...26,954,099
G
VCAM1
vascular cell adhesion molecule 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:19414982
RGD:2312761
NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
G
VEGFA
vascular endothelial growth factor A
treatment
ISO
associated with Diabetes Mellitus, Experimental;
RGD
PMID:26201024
RGD:11079183
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
G
ACE
angiotensin I converting enzyme
susceptibility no_association
ISO
associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human) associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human) associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human) associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:2157294 PMID:7729604 PMID:11106834 PMID:23065222
RGD:7829780 RGD:7829783 RGD:7829794 RGD:8142360
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
G
ACE2
angiotensin converting enzyme 2
treatment
ISO
associated with Diabetes Mellitus, Experimental human gene in a mouse model CTD Direct Evidence: therapeutic
RGD CTD
PMID:21792177 PMID:31380462
RGD:40818278 RGD:8548900
NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891
G
ACP1
acid phosphatase 1
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:12495297
RGD:2313184
NCBI chr2A:257,892...271,320
Ensembl chr2A:253,656...267,086
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:17970779 PMID:24655058
RGD:8694412 RGD:8694475
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
G
ADM
adrenomedullin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:19216096
RGD:2313312
NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
G
ADRB3
adrenoceptor beta 3
ISO
associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:9313761
RGD:5684400
NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949
G
AGER
advanced glycosylation end-product specific receptor
susceptibility treatment severity no_association
ISO
associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human) associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human) associated with Diabetes Mellitus, Experimental protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat) associated with Diabetes Mellitus, Type 2;protein:increased expression:serum associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human) associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human) associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human) associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human) associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human) associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human)
RGD
PMID:11375354 PMID:14704946 PMID:16969646 PMID:19542745 PMID:22116960 PMID:22171162 PMID:22427038 PMID:22475522 PMID:23091285 PMID:23146804 PMID:23587252 More...
RGD:7244174 RGD:7244175 RGD:7244176 RGD:7244248 RGD:7244369 RGD:8695958 RGD:8695965 RGD:8695966 RGD:8695967 RGD:8695979 RGD:8695983
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
G
AGT
angiotensinogen
treatment
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10862638 PMID:15387897 PMID:21792177
RGD:8548872 RGD:8548900
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
G
AGTR1
angiotensin II receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16601577
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
G
AKR1B1
aldo-keto reductase family 1 member B
no_association susceptibility
ISO
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, Experimental 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:8150024 PMID:16701918 PMID:17003340 PMID:19587357 PMID:21067572
RGD:1626080 RGD:8548640 RGD:8548668 RGD:8548676 RGD:8548684
NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095
G
AKT1
AKT serine/threonine kinase 1
ISO
mRNA, protein:increased expression:retina
RGD
PMID:31759996
RGD:41410819
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
G
ANG
angiogenin
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor
RGD
PMID:18978347
RGD:2307061
NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
G
ANGPT1
angiopoietin 1
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:12000720
RGD:2313818
NCBI chr 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783
G
ANGPT2
angiopoietin 2
ISO
protein:increased expression:retina (rat)
RGD
PMID:16520919
RGD:2314216
NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
G
APOA4
apolipoprotein A4
ISO
protein:increased expression:vitreous humor (human)
RGD
PMID:19081814
RGD:5685692
NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
G
APOB
apolipoprotein B
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:19448981
RGD:2313976
NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
G
APOC3
apolipoprotein C3
severity
ISO
protein:increased expression:serum
RGD
PMID:15642486
RGD:2306768
NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
G
APOE
apolipoprotein E
no_association susceptibility
ISO
DNA:polymorphism:exon: associated with Diabetic Mellitus type 2;DNA:polymorphism:exon:
RGD
PMID:11495633 PMID:16862278
RGD:7771553 RGD:7771557
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
G
APOH
apolipoprotein H
ISO
protein:increased expression:vitreous humor
RGD
PMID:18695102
RGD:2313982
NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483
G
AQP4
aquaporin 4
ISO
RGD
PMID:22449442
RGD:8695996
NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
G
ATG7
autophagy related 7
ISO
associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina
RGD
PMID:32272782
RGD:407571700
NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398
G
BDKRB1
bradykinin receptor B1
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:18311190
RGD:2313334
NCBI chr14:76,885,923...76,894,456
G
BDNF
brain derived neurotrophic factor
ISO
associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina:
RGD
PMID:15331553
RGD:8655657
NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
G
BECN1
beclin 1
ISO
associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina
RGD
PMID:32272782
RGD:407571700
NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
G
CASP3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina
CTD RGD
PMID:19013511 PMID:19187597 PMID:20654064
RGD:2311444 RGD:2311448
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
G
CASP9
caspase 9
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina
RGD
PMID:18369072
RGD:2311244
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
G
CAT
catalase
ISO
protein:decreased expression:retina
RGD
PMID:21314438
RGD:5130875
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
CCL2
C-C motif chemokine ligand 2
ISO
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina (rat)
RGD
PMID:23010641
RGD:8548887
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
G
CCL5
C-C motif chemokine ligand 5
severity
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor protein:increased expression:serum
RGD
PMID:16249511 PMID:18978347
RGD:2307061 RGD:2307104
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
G
CCN2
cellular communication network factor 2
ISO
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat)
RGD
PMID:19450451
RGD:2314507
NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
G
CCR5
C-C motif chemokine receptor 5
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:22677420
RGD:8551828
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
G
CD34
CD34 molecule
ISO
mRNA, protein:increased expression:retina
RGD
PMID:31759996
RGD:41410819
NCBI chr 1:183,459,028...183,489,583
Ensembl chr 1:188,272,551...188,297,384
G
CD59
CD59 molecule (CD59 blood group)
ISO
protein:decreased expression:retina
RGD
PMID:12453906
RGD:1600487
NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157
G
CDKAL1
CDK5 regulatory subunit associated protein 1 like 1
disease_progression
ISO
DNA:SNP:intron: (rs7756992) (human)
RGD
PMID:28821857
RGD:401850599
NCBI chr 6:20,357,897...21,064,873
Ensembl chr 6:20,717,011...21,405,566
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
RGD:7365019
NCBI chr 6:31,606,716...31,612,782
G
CFH
complement factor H
ISO
associated with Diabetes Mellitus, Type 2; DNA:SNP: :rs800292(human) associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human)
RGD
PMID:23296223 PMID:23864767
RGD:7365019 RGD:7365023
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
G
CLDN1
claudin 1
treatment
ISO
RGD
PMID:25685822
RGD:11341734
NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248
G
CLU
clusterin
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:19875648
RGD:9068395
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
G
CRP
C-reactive protein
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20012460
RGD:8547537
NCBI chr 1:135,062,102...135,064,402
G
CXCL10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:17194635
RGD:2311361
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
G
CXCL12
C-X-C motif chemokine ligand 12
severity
ISO
protein:increased expression:vitreous humor
RGD
PMID:15630447
RGD:2306559
NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231
G
DLL4
delta like canonical Notch ligand 4
severity
ISO
mRNA,protein:increased expression:retina:
RGD
PMID:30787185 PMID:34362349
RGD:155663348 RGD:155663356
NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
G
EDN1
endothelin 1
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human) mRNA:increased expression:retina (rat)
RGD
PMID:18806884 PMID:19293263 PMID:20628425
RGD:2313279 RGD:2313281 RGD:9068929
NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
G
EGFR
epidermal growth factor receptor
treatment
ISO
associated with Diabetes Mellitus, Experimental protein:increased expression:retina
RGD
PMID:7947554 PMID:23831329
RGD:10059675 RGD:1580957
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
G
ELN
elastin
ISO
RGD
PMID:11707314
RGD:9585734
G
ENG
endoglin
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body
RGD
PMID:16202216
RGD:1580961
NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
G
EP300
E1A binding protein p300
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:21885871
RGD:7349382
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
G
EPO
erythropoietin
susceptibility
ISO
associated with Diabetes Mellitus, Experimental protein:increased expression:serum,vitreous body DNA:snp:promoter:-1125T>G(rs1617640)(human)
RGD
PMID:18235022 PMID:18458324 PMID:18670462 PMID:24508793
RGD:10400906 RGD:2313837 RGD:2313838 RGD:2313890
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
G
F13A1
coagulation factor XIII A chain
ISO
protein:increased expression:optic choroid vascular plexus:
RGD
PMID:11375345
RGD:8693344
NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961
G
F3
coagulation factor III, tissue factor
ISO
protein:increased expression:aqueous humor,serum
RGD
PMID:12417540
RGD:2313865
NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050
G
F7
coagulation factor VII
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
RGD
PMID:10837382
RGD:2312398
NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995
G
FGF2
fibroblast growth factor 2
ISO
DNA:polymorphism:intron:g.754C>G(human) associated with Pregnancy in Diabetics associated with Diabetes Mellitus, Experimental DNA:polymorphism:promotor:g.-553T>A(human)
RGD
PMID:9141532 PMID:14975211 PMID:17997184 PMID:18279437
RGD:2315844 RGD:2315845 RGD:2315875 RGD:2315885
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
G
FLT1
fms related receptor tyrosine kinase 1
treatment
ISO
RGD
PMID:17143550 PMID:18174522
RGD:10402119 RGD:2313721
NCBI chr13:9,584,850...9,779,542
G
FUCA1
alpha-L-fucosidase 1
ISO
associated with Diabetes Mellitus, Experimental;protein:increased activity:retina
RGD
PMID:10353622
RGD:2315932
NCBI chr 1:23,039,126...23,060,514
Ensembl chr 1:24,022,967...24,043,850
G
GAD2
glutamate decarboxylase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21412422
NCBI chr10:26,392,877...26,481,859
Ensembl chr10:26,759,243...26,843,197
G
GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:18852331
RGD:2315975
NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
G
GC
GC vitamin D binding protein
ISO
protein:increased expression:vitreous body
RGD
PMID:16080911
RGD:2315548
NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
G
GGT1
gamma-glutamyltransferase 1
ISO
associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum
RGD
PMID:11311965
RGD:2315614
NCBI chr22:5,424,334...5,469,705
G
GLO1
glyoxalase I
ISO
DNA:SNP:promoter:-7C>T (human)
RGD
PMID:21738003
RGD:7242569
NCBI chr 6:38,247,881...38,275,098
Ensembl chr 6:39,434,746...39,461,971
G
GLUL
glutamate-ammonia ligase
treatment
ISO
associated with Experimental Diabetes Mellitus
RGD
PMID:34133251
RGD:401794594
NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411
G
GSTM1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human)
RGD
PMID:19752172
RGD:7495818
Ensembl chr 1:127,979,238...128,010,411
G
HES1
hes family bHLH transcription factor 1
ISO
mRNA:increased expression:retina:
RGD
PMID:30787185
RGD:155663348
NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257
G
HEY2
hes related family bHLH transcription factor with YRPW motif 2
ISO
mRNA:increased expression:retina:
RGD
PMID:30787185
RGD:155663348
NCBI chr 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056
G
HFE
homeostatic iron regulator
ISO
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:15347835
RGD:8694362
NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
G
HGF
hepatocyte growth factor
disease_progression
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
RGD
PMID:15525877 PMID:18335393
RGD:2313565 RGD:8548539
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
G
HIF1A
hypoxia inducible factor 1 subunit alpha
treatment severity
ISO
associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat) protein:increased expression:retina, vascular endothelial cell (human)
RGD
PMID:17229797 PMID:20515763 PMID:22110070
RGD:7364887 RGD:8694462 RGD:8696025
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
G
HRAS
HRas proto-oncogene, GTPase
ISO
RGD
PMID:14988264
RGD:1358731
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
G
ICAM1
intercellular adhesion molecule 1
treatment
ISO
CTD Direct Evidence: therapeutic associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human)
CTD RGD
PMID:10485912 PMID:18834676 PMID:18942221 PMID:25066112
RGD:11354984 RGD:2313471 RGD:2313472
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
G
IGF1
insulin like growth factor 1
susceptibility
ISO
protein:decreased expression:serum
RGD
PMID:16873705 PMID:17194636
RGD:1598424 RGD:2313764
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
G
IGF1R
insulin like growth factor 1 receptor
disease_progression
ISO
mRNA:increased expression:retina:
RGD
PMID:12781065
RGD:10046008
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
G
IL10
interleukin 10
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent associated with Diabetes Mellitus, Type 2 associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
RGD
PMID:16696964 PMID:18978347 PMID:18988929 PMID:22105495
RGD:1598486 RGD:2307061 RGD:2307272 RGD:7364856
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
G
IL18
interleukin 18
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
RGD
PMID:16260350 PMID:19011009
RGD:4889417 RGD:8655907
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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 chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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:16284605 PMID:18978347
RGD:2307061 RGD:7401212
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
IL6
interleukin 6
susceptibility
ISO
associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum:
RGD
PMID:17725274 PMID:18988929 PMID:19140096 PMID:19542902
RGD:2307267 RGD:2307272 RGD:7829749 RGD:7829816
NCBI chr 7:23,415,922...23,420,767
G
INS
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22046295 PMID:30463601
RGD:6902909
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
G
INSR
insulin receptor
ISO
MouseDO
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
G
ITGA2
integrin subunit alpha 2
no_association susceptibility severity
ISO
associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human) associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human) associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human) associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human)
RGD
PMID:12540964 PMID:18806884 PMID:21632096 PMID:23776381
RGD:2307419 RGD:2313281 RGD:7777103 RGD:8686431
NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720
G
ITGA4
integrin subunit alpha 4
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:19553613
RGD:9698417
NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203
G
ITGAM
integrin subunit alpha M
ISO
mRNA, protein:increased expression:retina (rat)
RGD
PMID:33614447
RGD:329901937
NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
G
ITGB3
integrin subunit beta 3
ISO
protein:increased expression:optic choroid vascular plexus:
RGD
PMID:11375345
RGD:8693344
NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382
G
JAG1
jagged canonical Notch ligand 1
ISO
mRNA,protein:increased expression:retina:
RGD
PMID:30787185
RGD:155663348
NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
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 1:135,391,321...135,424,100
G
KDM1A
lysine demethylase 1A
ISO
mRNA:increased expression:retina (human) mRNA, protein:increased expression:retina (rat)
RGD
PMID:23423566
RGD:8547881
NCBI chr 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692
G
KEAP1
kelch like ECH associated protein 1
ISO
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina
RGD
PMID:23633659
RGD:10412733
NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
G
LOC100971425
somatotropin
ISO
RGD
PMID:3183302
RGD:2315688
NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067
G
LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
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:8932997 PMID:19551681
RGD:7421552 RGD:7483573
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
G
LOC100982859
class I histocompatibility antigen, Gogo-B*0101 alpha chain
susceptibility
ISO
associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human)
RGD
PMID:22981956
RGD:7365095
NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
G
LOC100986914
cytochrome b-245 light chain
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:19685553
RGD:2317854
NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719
G
LTA
lymphotoxin alpha
no_association susceptibility
ISO
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human)
RGD
PMID:11399938 PMID:16979413
RGD:8548772 RGD:8548797
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
G
MESP1
mesoderm posterior bHLH transcription factor 1
ISO
associated with type 2 diabetes mellitus;DNA:increased expression:plasma (human)
RGD
PMID:33221518
RGD:242905212
NCBI chr15:68,440,626...68,441,935
Ensembl chr15:87,645,768...87,647,210
G
MFN2
mitofusin 2
ISO
associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat)
RGD
PMID:28487236
RGD:12910715
NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
G
MMP2
matrix metallopeptidase 2
ISO
protein:increased expression:plasma
RGD
PMID:12714657 PMID:18552985
RGD:1582582 RGD:8547849
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
G
MMP9
matrix metallopeptidase 9
disease_progression
ISO
associated with Diabetes Mellitus, Experimental associated with Diabetes Mellitus, Type 2
RGD
PMID:10374894 PMID:16643893 PMID:21933988
RGD:1582616 RGD:8547815 RGD:8547857
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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 1:57,916,267...57,961,812
Ensembl chr 1:59,626,793...59,666,809
G
NFE2L2
NFE2 like bZIP transcription factor 2
ISO
associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina
RGD
PMID:23633659
RGD:10412733
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
G
NGF
nerve growth factor
ISO
protein:increased expression:serum associated with Experimental Diabetes Mellitus
RGD
PMID:18282491 PMID:24030532
RGD:405100241 RGD:7242804
NCBI chr 1:87,223,597...87,276,759
G
NOS1
nitric oxide synthase 1
ISO
mRNA, protein:decreased expression:retina
RGD
PMID:17545029
RGD:1642141
NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
G
NOS3
nitric oxide synthase 3
no_association severity treatment susceptibility onset
ISO
associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) associated with Diabetes Mellitus, Experimental 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;mRNA:decreased expression:retina (rat) associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human) associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human) DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human)
RGD
PMID:11918626 PMID:15890549 PMID:16581274 PMID:17558849 PMID:17973941 PMID:18840783 PMID:20435587 PMID:22017289 PMID:23059402 PMID:23776381 More...
RGD:7421531 RGD:7421532 RGD:7421533 RGD:7771565 RGD:7771568 RGD:7771569 RGD:7771606 RGD:7775042 RGD:7777101 RGD:7777103
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
G
NOTCH1
notch receptor 1
treatment
ISO
RGD
PMID:30787185
RGD:155663348
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
G
NPPA
natriuretic peptide A
ISO
protein:increased expression:vitreous humor
RGD
PMID:15273657
RGD:2313589
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
G
NPR3
natriuretic peptide receptor 3
ISO
mRNA:decreased expression:retina (rat)
RGD
PMID:15789000
RGD:1580773
NCBI chr 5:77,542,200...77,621,983
Ensembl chr 5:82,926,409...83,004,964
G
NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
associated with Experimental Diabetes Mellitus;protein:altered expression:retina
RGD
PMID:37904673
RGD:408364965
NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
G
NRP1
neuropilin 1
treatment
ISO
RGD
PMID:26554379
RGD:401901170
NCBI chr10:33,298,918...33,456,466
Ensembl chr10:33,883,173...34,039,648
G
NUTF2
nuclear transport factor 2
treatment
ISO
mRNA:decreased expression:peripheral blood:
RGD
PMID:19404486
RGD:9831377
NCBI chr16:48,188,533...48,214,205
Ensembl chr16:67,575,842...67,601,053
G
OCLN
occludin
treatment
ISO
RGD
PMID:25685822
RGD:11341734
NCBI chr 5:44,447,230...44,509,637
Ensembl chr 5:46,023,437...46,069,342
G
PF4
platelet factor 4
ISO
protein:increased expression:retina
RGD
PMID:23352833
RGD:329901846
NCBI chr 4:50,208,806...50,210,570
Ensembl chr 4:56,041,833...56,043,750
G
PGF
placental growth factor
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:21408222
RGD:6483775
NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964
G
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
mRNA, protein:increased expression:retina
RGD
PMID:31759996
RGD:41410819
NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614
G
PLK4
polo like kinase 4
treatment
ISO
RGD
PMID:33416109
RGD:401850543
NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
G
PON1
paraoxonase 1
susceptibility
ISO
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) DNA:polymorphism:promoter:g.-907C>G (human) associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human)
RGD CTD
PMID:9661650 PMID:15270786 PMID:16949520 PMID:20012460 PMID:24100645
RGD:2313272 RGD:8547537 RGD:8547548 RGD:8547572
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
G
PPARG
peroxisome proliferator activated receptor gamma
ISO
Retinal Leukostasis;associated with Diabetes Mellitus, Experimental
RGD
PMID:17003451
RGD:8552824
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
G
PPARGC1A
PPARG coactivator 1 alpha
ISO
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat)
RGD
PMID:20566666 PMID:22003111
RGD:5686899 RGD:6484532
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
G
PTEN
phosphatase and tensin homolog
ISO
mRNA, protein:decreased expression:retina
RGD
PMID:31759996
RGD:41410819
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
G
RBP4
retinol binding protein 4
severity
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:30135138
RGD:329849110
NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
G
RETN
resistin
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:17303077
RGD:7207162
NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
G
ROBO1
roundabout guidance receptor 1
ISO
mRNA,protein:increased expression:retina
RGD
PMID:28973045
RGD:243048421
NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308
G
SERPINA4
serpin family A member 4
ISO
protein:decreased expression:vitreous fluid (human)
RGD
PMID:8950506
RGD:1580289
NCBI chr14:75,185,501...75,194,061
Ensembl chr14:94,517,341...94,525,820
G
SERPINE1
serpin family E member 1
susceptibility no_association
ISO
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) 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)
RGD
PMID:7974340 PMID:9201602 PMID:12660488 PMID:19419896 PMID:23281898
RGD:8547697 RGD:8547699 RGD:8547710 RGD:8547740 RGD:8547741
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
G
SERPINF1
serpin family F member 1
severity
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human) protein:alternative form:vitreous humor associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
RGD
PMID:15059706 PMID:16054135 PMID:17658465 PMID:18025835 PMID:18455830 PMID:19365032 More...
RGD:1580135 RGD:2312337 RGD:2312341 RGD:2312344 RGD:2312346 RGD:2312348
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
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
Ensembl chr16:29,030,587...29,068,795
G
SIRT1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894401
NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
G
SLIT2
slit guidance ligand 2
ISO
mRNA,protein:increased expression:retina
RGD
PMID:28973045
RGD:243048421
NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656
G
SOD1
superoxide dismutase 1
ISO
human gene in a mouse model CTD Direct Evidence: therapeutic
RGD CTD
PMID:19074809
RGD:8655572
NCBI chr21:18,029,831...18,037,526
G
SOD3
superoxide dismutase 3
ISO
RGD
PMID:12663605
RGD:1581298
NCBI chr 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781
G
STRA6
signaling receptor and transporter of retinol STRA6
treatment
ISO
associated with type 2 diabetes mellitus
RGD
PMID:30096827
RGD:155631301
NCBI chr15:53,117,891...53,150,790
Ensembl chr15:72,741,482...72,770,876
G
TGFBR2
transforming growth factor beta receptor 2
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 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
G
THBS1
thrombospondin 1
ISO
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17117553
RGD:2317943
NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170
G
TIMM44
translocase of inner mitochondrial membrane 44
ISO
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina
RGD
PMID:22003103
RGD:13463597
NCBI chr19:7,227,965...7,245,045
Ensembl chr19:8,081,069...8,100,479
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 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
G
TNF
tumor necrosis factor
no_association disease_progression
ISO
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:10540181 PMID:16284605 PMID:16979413 PMID:22105495
RGD:7364856 RGD:7394805 RGD:7401212 RGD:8548772
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
UTS2
urotensin 2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:18338983
RGD:2306795
NCBI chr 1:6,609,104...6,616,966
Ensembl chr 1:7,854,687...7,864,688
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 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
G
VDR
vitamin D receptor
ISO
RGD
PMID:15899948
RGD:1580363
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
G
VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:retina associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball:
CTD RGD
PMID:9852717 PMID:11978667 PMID:15788408 PMID:16636650 PMID:17513698 PMID:20577866 PMID:31759996 More...
RGD:1580565 RGD:2301992 RGD:41410819 RGD:8547996
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
G
VPS26A
VPS26 retromer complex component A
susceptibility
ISO
DNA:SNP:: (rs1802295) (Human)
RGD
PMID:28821857
RGD:401850599
NCBI chr10:65,591,415...65,639,894
Ensembl chr10:68,125,409...68,173,317
G
VTN
vitronectin
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:7536680 PMID:8804356
RGD:10040982 RGD:1580818
NCBI chr17:28,403,813...28,407,202
Ensembl chr17:28,906,508...28,909,583
G
VWF
von Willebrand factor
ISO
RGD
PMID:10077454
RGD:1580648
NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
G
WFS1
wolframin ER transmembrane glycoprotein
susceptibility
ISO
DNA:SNP:: (rs10010131) (Human)
RGD
PMID:28821857
RGD:401850599
Ensembl chr 4:6,345,864...6,379,287
G
XRCC1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:SNP:cd: p.R399Q G>A (rs25487) (human)
RGD
PMID:30472145
RGD:401827275
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
G
HNF4A
hepatocyte nuclear factor 4 alpha
ISO
DNA:mutations: :
RGD
PMID:17407387 PMID:19435144
RGD:12904698 RGD:12904767
NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536
G
IGF1
insulin like growth factor 1
ISO
protein:increased expression:serum:
RGD
PMID:17113804
RGD:12743591
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
G
IGFBP3
insulin like growth factor binding protein 3
ISO
protein:increased expression:serum:
RGD
PMID:17113804
RGD:12743591
NCBI chr 7:46,564,234...46,573,145
G
LIPC
lipase C, hepatic type
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
RGD
PMID:10600655
RGD:2308786
NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
G
PHKG2
phosphorylase kinase catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Mauriac syndrome
ClinVar
PMID:27207549 PMID:28492532
NCBI chr16:24,211,929...24,221,756
Ensembl chr16:31,115,033...31,127,216
G
ALPI
alkaline phosphatase, intestinal
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,687,673...119,692,300
Ensembl chr2B:238,606,722...238,611,350
G
ARMC9
armadillo repeat containing 9
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,454,310...118,644,303
Ensembl chr2B:237,243,120...237,412,620
G
ATG16L1
autophagy related 16 like 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:120,479,534...120,523,563
Ensembl chr2B:239,392,990...239,436,766
G
B3GNT7
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,644,899...118,650,463
G
C13H2orf72
chromosome 13 C2orf72 homolog
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,293,626...118,306,034
G
CAB39
calcium binding protein 39
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:117,965,688...118,074,063
Ensembl chr2B:236,809,549...236,870,646
G
CHRND
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,757,722...119,768,254
Ensembl chr2B:238,676,495...238,686,987
G
CHRNG
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,770,636...119,779,332
Ensembl chr2B:238,689,935...238,696,526
G
COPS7B
COP9 signalosome subunit 7B
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,033,879...119,061,293
Ensembl chr2B:237,821,398...237,849,340
G
CTR9
CTR9 homolog, Paf1/RNA polymerase II complex component
ISO
ClinVar Annotator: match by term: Predisposition to Wilms tumor
ClinVar
PMID:9536098 PMID:17576681 PMID:25099282 PMID:28492532
NCBI chr11:10,884,353...10,913,246
Ensembl chr11:10,610,892...10,639,808
G
DGKD
diacylglycerol kinase delta
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:120,582,278...120,701,165
Ensembl chr2B:239,525,401...239,611,873
G
DIS3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:25741868
NCBI chr13:53,982,914...54,011,076
Ensembl chr13:72,760,610...72,787,325
G
DIS3L2
DIS3 like 3'-5' exoribonuclease 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
OMIM ClinVar
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23486540 PMID:23576526 PMID:23594738 PMID:23613427 PMID:23756462 PMID:24141620 PMID:25640679 PMID:25670083 PMID:25741868 PMID:25741875 PMID:26689913 PMID:27153395 PMID:27431325 PMID:28328139 PMID:28492532 PMID:29625052 PMID:30344923 PMID:30359267 PMID:31350202 PMID:31942411 PMID:33332384 PMID:33719213 PMID:34130653 PMID:35495172 PMID:36451132 More...
NCBI chr2B:119,187,659...119,558,347
Ensembl chr2B:238,030,931...238,347,570
G
EFHD1
EF-hand domain family member D1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,865,065...119,914,446
G
EIF4E2
eukaryotic translation initiation factor 4E family member 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,782,057...119,814,992
Ensembl chr2B:238,700,790...238,733,654
G
GIGYF2
GRB10 interacting GYF protein 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,929,004...120,090,367
Ensembl chr2B:238,847,674...239,007,549
G
GPR55
G protein-coupled receptor 55
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,159,511...118,163,334
Ensembl chr2B:236,958,210...236,959,169
G
HJURP
Holliday junction recognition protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:121,076,314...121,096,783
Ensembl chr2B:239,950,984...239,967,955
G
HTR2B
5-hydroxytryptamine receptor 2B
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591
G
ITM2C
integral membrane protein 2C
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,116,228...118,131,379
G
KCNJ13
potassium inwardly rectifying channel subfamily J member 13
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,997,643...120,009,927
Ensembl chr2B:238,916,083...238,926,178
G
LOC100991867
alkaline phosphatase, placental type
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,594,655...119,600,138
Ensembl chr2B:238,383,768...238,388,105
G
LOC100993088
endothelin-converting enzyme-like 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,711,355...119,719,378
Ensembl chr2B:238,630,731...238,637,233
G
MROH2A
maestro heat like repeat family member 2A
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:121,034,266...121,074,112
G
NCL
nucleolin
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,703,148...118,712,893
Ensembl chr2B:237,490,378...237,500,193
G
NEU2
neuraminidase 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:120,260,420...120,262,930
Ensembl chr2B:239,174,532...239,176,917
G
NGEF
neuronal guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:120,110,441...120,153,934
Ensembl chr2B:239,027,286...239,155,874
G
NMUR1
neuromedin U receptor 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,773,713...118,854,590
Ensembl chr2B:237,556,920...237,564,268
G
NPPC
natriuretic peptide C
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244
G
PDE6D
phosphodiesterase 6D
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,984,666...119,033,525
Ensembl chr2B:237,772,529...237,821,044
G
PRSS56
serine protease 56
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,751,950...119,757,308
Ensembl chr2B:238,670,931...238,675,839
G
PSMD1
proteasome 26S subunit, non-ATPase 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,313,158...118,428,636
Ensembl chr2B:237,102,623...237,215,322
G
PTMA
prothymosin alpha
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,959,382...118,964,364
G
SAG
S-antigen visual arrestin
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:120,532,049...120,574,914
Ensembl chr2B:239,449,910...239,487,537
G
SNORC
secondary ossification center associated regulator of chondrocyte maturation
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:120,100,778...120,110,444
G
SP100
SP100 nuclear antigen
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:117,673,152...117,799,911
Ensembl chr2B:236,496,446...236,601,096
G
SP110
SP110 nuclear body protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:117,417,230...117,472,246
Ensembl chr2B:236,221,833...236,275,562
G
SP140
SP140 nuclear body protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:117,477,923...117,565,367
Ensembl chr2B:236,279,460...236,366,314
G
SP140L
SP140 nuclear body protein like
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:117,578,707...117,663,997
Ensembl chr2B:236,380,818...236,461,871
G
SPATA3
spermatogenesis associated 3
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,246,905...118,265,322
Ensembl chr2B:237,042,156...237,053,441
G
SPP2
secreted phosphoprotein 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:121,294,427...121,320,831
Ensembl chr2B:240,165,495...240,191,869
G
TEX44
testis expressed 44
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:118,843,674...118,845,087
Ensembl chr2B:237,627,967...237,629,154
G
TIGD1
tigger transposable element derived 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:119,779,452...119,782,065
Ensembl chr2B:238,698,311...238,700,086
G
TRPM8
transient receptor potential cation channel subfamily M member 8
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:121,160,045...121,261,645
Ensembl chr2B:240,039,104...240,130,524
G
USP40
ubiquitin specific peptidase 40
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr2B:120,704,893...120,796,084
Ensembl chr2B:239,617,442...239,705,721
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 chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
G
AGER
advanced glycosylation end-product specific receptor
ISO
protein:increased expression:vitreous humor
RGD
PMID:16364297
RGD:8695978
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
G
BCOR
BCL6 corepressor
susceptibility
ISO
associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR
RGD
PMID:26248552
RGD:155631276
NCBI chr X:32,497,931...32,624,307
Ensembl chr X:40,202,235...40,249,986
G
CALD1
caldesmon 1
ISO
mRNA:increased expression:retina (human)
RGD
PMID:35692390
RGD:401851065
NCBI chr 7:126,743,466...126,935,412
Ensembl chr 7:139,337,692...139,440,643
G
CALU
calumenin
ISO
mRNA:increased expression:retina (human)
RGD
PMID:35692390
RGD:401851065
NCBI chr 7:120,691,092...120,723,303
Ensembl chr 7:133,223,269...133,247,167
G
CAT
catalase
ISO
associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum:
RGD
PMID:24092995
RGD:9068931
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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:21850157 PMID:23549806
RGD:8548851 RGD:8549477
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
G
CCN1
cellular communication network factor 1
ISO
protein:increased expression:vitreous body (human)
RGD
PMID:22160564
RGD:329845551
NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147
G
COL5A2
collagen type V alpha 2 chain
ISO
mRNA:increased expression:retina (human)
RGD
PMID:35692390
RGD:401851065
NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237
G
COL6A3
collagen type VI alpha 3 chain
ISO
mRNA:increased expression:retina (human)
RGD
PMID:35692390
RGD:401851065
NCBI chr2B:124,554,478...124,644,482
G
CORO1C
coronin 1C
ISO
mRNA:increased expression:retina (human)
RGD
PMID:35692390
RGD:401851065
NCBI chr12:106,220,755...106,306,098
Ensembl chr12:109,617,093...109,674,368
G
ENPP2
ectonucleotide pyrophosphatase/phosphodiesterase 2
disease_progression
ISO
protein:decreased expression:vitreous:
RGD
PMID:22864860
RGD:9685437
NCBI chr 8:116,248,587...116,364,966
Ensembl chr 8:118,998,530...119,114,273
G
FLT1
fms related receptor tyrosine kinase 1
ISO
protein:increased expression:vitreous:
RGD
PMID:22868384
RGD:10402118
NCBI chr13:9,584,850...9,779,542
G
IL6R
interleukin 6 receptor
ISO
protein:increased expression:serum
RGD
PMID:17401618
RGD:10402814
NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
G
MAP3K8
mitogen-activated protein kinase kinase kinase 8
ISO
protein:increased activity:serum:
RGD
PMID:28724746
RGD:151356966
NCBI chr10:30,579,220...30,607,249
Ensembl chr10:30,933,483...30,960,824
G
PDGFB
platelet derived growth factor subunit B
ISO
protein:increased expression:vitreous:
RGD
PMID:19799585
RGD:10449447
NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
G
PPARG
peroxisome proliferator activated receptor gamma
onset susceptibility
ISO
DNA:snp:cds:p.P12A (rs1801282) (human) associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human)
RGD
PMID:18541841 PMID:19125195 PMID:23559865
RGD:2301854 RGD:8552820 RGD:8699508
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
G
PTPN1
protein tyrosine phosphatase non-receptor type 1
ISO
protein:increased expression:vitreous humor (human)
RGD
PMID:33627831
RGD:401976389
NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421
G
RBP4
retinol binding protein 4
disease_progression
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20233518
RGD:329853306
NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
G
SERPINE1
serpin family E member 1
susceptibility disease_progression
ISO
associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) protein:increased expression:plasma (human)
RGD
PMID:16416371 PMID:23304115
RGD:8699494 RGD:8699497
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
G
SERPINF1
serpin family F member 1
treatment
ISO
protein:increased expression:vitreous fluid (human)
RGD
PMID:11723044 PMID:15059706
RGD:1580135 RGD:8554895
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
G
SLIT2
slit guidance ligand 2
ISO
associated with eye disease; protein:increased expression:vitreous
RGD
PMID:28973045
RGD:243048421
NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656
G
SRSF6
serine and arginine rich splicing factor 6
ISO
DNA:snp:exon:p.P281P (rs2235611) (human)
RGD
PMID:21309690
RGD:11039452
NCBI chr20:39,795,659...39,801,864
Ensembl chr20:40,888,560...40,891,853
G
TIMM44
translocase of inner mitochondrial membrane 44
ISO
mRNA:decreased expression:retina
RGD
PMID:22003103
RGD:13463597
NCBI chr19:7,227,965...7,245,045
Ensembl chr19:8,081,069...8,100,479
G
VEGFA
vascular endothelial growth factor A
ISO
associated with Diabetes Mellitus, Type 2; protein:increased expression:retina
RGD
PMID:16054135
RGD:2312348
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
G
PDGFRB
platelet derived growth factor receptor beta
ISO
MouseDO
NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all