MCID: DBT047
MIFTS: 35

Diabetes Mellitus, Noninsulin-Dependent, Association with malady

Genetic diseases (common) category
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Summaries for Diabetes Mellitus, Noninsulin-Dependent, Association with

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47OMIM, 33MalaCards
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MalaCards: Diabetes Mellitus, Noninsulin-Dependent, Association with is related to maturity-onset diabetes of the young and hyperinsulinism. An important gene associated with Diabetes Mellitus, Noninsulin-Dependent, Association with is WFS1 (Wolfram syndrome 1 (wolframin)), and among its related pathways are Akt Signaling Pathway and Hepatic ABC Transporters. The compounds 3-o-methylglucose and vanadyl sulfate have been mentioned in the context of this disorder. Related mouse phenotypes are cellular and immune system.

Description from OMIM:47 125853

Aliases & Classifications for Diabetes Mellitus, Noninsulin-Dependent, Association with

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47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

diabetes mellitus, noninsulin-dependent, association with 47


Related Diseases for Diabetes Mellitus, Noninsulin-Dependent, Association with

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17GeneCards, 18GeneDecks
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Diseases related to Diabetes Mellitus, Noninsulin-Dependent, Association with via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1maturity-onset diabetes of the young10.1HNF1B, HNF4A
2hyperinsulinism10.0IRS1, INSR
3lipodystrophy10.0AKT2, INSR
4developmental disabilities10.0HNF4A, HNF1B
5cholestasis10.0HNF1B, HNF4A
6polycystic ovary syndrome10.0IRS1, INSR
7glucose intolerance10.0INSR, SLC2A4
8insulinoma10.0INSR, WFS1, HNF4A
9hepatoblastoma10.0INSR, HNF4A
10fatty liver disease10.0HNF4A, INSR
11type 1 diabetes mellitus10.0HNF4A, WFS1, INSR
12primary hyperoxaluria10.0HNF4A, HNF1B, INSR
13hypoglycemia10.0INSR, HNF4A, SLC2A4
14galactosemia10.0IRS1, HNF1B, HNF4A
15leiomyoma10.0INSR, IRS1
16hypertriglyceridemia10.0INSR, IRS1, SLC2A4
17liver cirrhosis10.0INSR, IRS1, SLC2A4
18sepsis10.0SLC2A4, IRS1, INSR
19kidney cancer10.0INSR, HNF1B, HNF4A, SLC2A4
20hepatocellular carcinoma10.0INSR, IRS1, HNF1B, HNF4A
21pancreatic cancer10.0SLC2A4, HNF4A, AKT2, IRS1
22ischemia10.0SLC2A4, MAPK8IP1, INSR
23gestational diabetes10.0SLC2A4, HNF4A, IRS1, INSR
24obesity9.9SLC2A4, HNF4A, IRS1, INSR
25ovarian cancer9.9INSR, AKT2, HNF1B, HNF4A, SLC2A4
26adenocarcinoma9.9SLC2A4, HNF4A, HNF1B, AKT2, INSR
27tongue squamous cell carcinoma9.9INSR, IRS1, AKT2, HNF4A, SLC2A4
28hyperglycemia9.9INSR, IRS1, HNF1B, HNF4A, SLC2A4
29colorectal cancer9.9HNF4A, IRS1, INSR, PPP1R3A
30breast cancer9.9INSR, IRS1, AKT2, HNF4A, SLC2A4
31diabetes mellitus, noninsulin-dependent9.9IRS1, MAPK8IP1, HNF1B, HNF4A, SLC2A4
32stomach cancer9.9PPP1R3A, HNF4A, SLC2A4
33prostate cancer9.9INSR, IRS1, AKT2, MAPK8IP1, HNF1B, HNF4A
34diabetes mellitus9.8INSR, IRS1, AKT2, WFS1, HNF1B, HNF4A
35type 2 diabetes mellitus9.8PPP1R3A, INSR, IRS1, HNF1B, HNF4A, SLC2A4
36insulin resistance9.8PPP1R3A, INSR, IRS1, AKT2, HNF1B, HNF4A

Graphical network of the top 20 diseases related to Diabetes Mellitus, Noninsulin-Dependent, Association with:



Diseases related to diabetes mellitus, noninsulin-dependent, association with

Symptoms for Diabetes Mellitus, Noninsulin-Dependent, Association with

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47OMIM
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Clinical features from OMIM:

125853

Drugs & Therapeutics for Diabetes Mellitus, Noninsulin-Dependent, Association with

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Diabetes Mellitus, Noninsulin-Dependent, Association with

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Anatomical Context for Diabetes Mellitus, Noninsulin-Dependent, Association with

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Animal Models for Diabetes Mellitus, Noninsulin-Dependent, Association with or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Diabetes Mellitus, Noninsulin-Dependent, Association with:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.1HNF4A, MAPK8IP1, AKT2, IRS1, INSR
2MP:00053878.0INSR, IRS1, AKT2, HNF1B, SLC2A4
3MP:00053757.7PPP1R3A, INSR, IRS1, AKT2, SLC2A4
4MP:00053697.5PPP1R3A, INSR, IRS1, AKT2, HNF1B, SLC2A4
5MP:00053797.4INSR, IRS1, AKT2, WFS1, MAPK8IP1, HNF1B
6MP:00053707.4INSR, IRS1, AKT2, MAPK8IP1, HNF1B, HNF4A
7MP:00107686.9INSR, IRS1, AKT2, WFS1, MAPK8IP1, HNF1B
8MP:00053786.3SLC2A4, PPP1R3A, INSR, IRS1, AKT2, WFS1
9MP:00053766.2PPP1R3A, INSR, IRS1, AKT2, WFS1, MAPK8IP1

Publications for Diabetes Mellitus, Noninsulin-Dependent, Association with

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Variations for Diabetes Mellitus, Noninsulin-Dependent, Association with

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Noninsulin-Dependent, Association with:

64 (show all 11)
id Symbol AA change Variation ID SNP ID
1AKT2p.Arg274HisVAR_067310
2HNF1Bp.Ser465ArgVAR_017665
3HNF4Ap.Val402IleVAR_004670rs137853337
4INSRp.Arg1191GlnVAR_004098
5INSRp.Thr858AlaVAR_015917rs182552223
6INSRp.Arg1158GlnVAR_015927
7IRS1p.Ser1043TyrVAR_005302
8IRS1p.Cys1095TyrVAR_005303
9MAPK8IP1p.Ser59AsnVAR_012243
10PPP1R3Ap.Ala931GluVAR_019699rs35449651
11SLC2A4p.Val383IleVAR_007170rs121434581

Clinvar genetic disease variations for Diabetes Mellitus, Noninsulin-Dependent, Association with:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1HNF1BNM_000458.2(HNF1B): c.1395C> G (p.Ser465Arg)single nucleotide variantPathogenicrs121918673GRCh37Chr 17, 36061127: 36061127
2PAX4NM_006193.2(PAX4): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs114202595GRCh37Chr 7, 127254587: 127254587
3AKT2NM_001626.5(AKT2): c.821G> A (p.Arg274His)single nucleotide variantPathogenicrs121434593GRCh37Chr 19, 40743886: 40743886
4INSRNM_000208.2(INSR): c.3572G> A (p.Arg1191Gln)single nucleotide variantPathogenicrs121913150GRCh37Chr 19, 7120718: 7120718
5INSRNM_000208.2(INSR): c.3034G> A (p.Val1012Met)single nucleotide variantLikely pathogenic, Pathogenicrs1799816GRCh37Chr 19, 7125518: 7125518
6GPD2NM_001083112.2(GPD2): c.1904T> C (p.Phe635Ser)single nucleotide variantPathogenicrs121918407GRCh37Chr 2, 157435621: 157435621
7SLC2A2NM_000340.1(SLC2A2): c.589G> A (p.Val197Ile)single nucleotide variantPathogenicrs121909741GRCh37Chr 3, 170724960: 170724960
8GCGRNM_000160.4(GCGR): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs1801483GRCh37Chr 17, 79767715: 79767715
9IRS1IRS1, 3-BP DEL, GLY723deletionPathogenic
10IRS1NM_005544.2(IRS1): c.1823C> G (p.Thr608Arg)single nucleotide variantPathogenicrs104893642GRCh37Chr 2, 227661632: 227661632
11MAPK8IP1NM_005456.3(MAPK8IP1): c.176G> A (p.Ser59Asn)single nucleotide variantPathogenicrs119489103GRCh37Chr 11, 45919710: 45919710
12NEUROD1NM_002500.4(NEUROD1): c.332G> T (p.Arg111Leu)single nucleotide variantPathogenicrs104893649GRCh37Chr 2, 182543256: 182543256
13ABCC8NM_001287174.1(ABCC8): c.4138C> T (p.Arg1380Cys)single nucleotide variantPathogenicrs137852673GRCh37Chr 11, 17417462: 17417462
14ABCC8NM_001287174.1(ABCC8): c.1744C> G (p.Leu582Val)single nucleotide variantPathogenicrs137852674GRCh37Chr 11, 17452434: 17452434
15HNF4ANM_000457.4(HNF4A): c.1204G> A (p.Val402Ile)single nucleotide variantPathogenicrs137853337GRCh37Chr 20, 43057049: 43057049

Expression for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

Search GEO for disease gene expression data for Diabetes Mellitus, Noninsulin-Dependent, Association with.

Pathways for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

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Sources:
50PathCards, 54R&D Systems, 53QIAGEN, 60Thomson Reuters, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 61Tocris Bioscience, 51PharmGKB, 5Cell Signaling Technology
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Pathways related to Diabetes Mellitus, Noninsulin-Dependent, Association with according to GeneCards/GeneDecks:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7AKT2, INSR
2
Show member pathways
9.6HNF4A, INSR
3
Show member pathways
FAS pathway and Stress induction of HSP regulation38
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis38
9.6AKT2, IRS1
49.6SLC2A4, AKT2
59.5SLC2A4, HNF4A
69.5IRS1, INSR
79.5INSR, IRS1
89.5INSR, IRS1
9
Show member pathways
9.3AKT2, HNF1B, HNF4A
10
Show member pathways
Insulin Pathway38
9.2AKT2, IRS1, INSR
11
Show member pathways
9.2AKT2, IRS1, INSR
129.2AKT2, IRS1, INSR
13
Show member pathways
9.2AKT2, IRS1, INSR
14
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
9.2INSR, IRS1, AKT2
159.1SLC2A4, AKT2, IRS1
169.1IRS1, AKT2, SLC2A4
17
Show member pathways
9.1IRS1, AKT2, SLC2A4
18
Show member pathways
8.9AKT2, INSR, PPP1R3A
19
Show member pathways
8.8AKT2, HNF1B, HNF4A, SLC2A4
208.7SLC2A4, HNF4A, AKT2, INSR
21
Show member pathways
8.7IRS1, INSR, PPP1R3A
22
Show member pathways
8.6INSR, IRS1, AKT2, SLC2A4
23
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
8.6SLC2A4, AKT2, IRS1, INSR
24
Show member pathways
8.6INSR, IRS1, AKT2, SLC2A4
25
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
8.6SLC2A4, AKT2, IRS1, INSR
268.3PPP1R3A, INSR, AKT2, SLC2A4
27
Show member pathways
8.2INSR, IRS1, HNF1B, HNF4A, SLC2A4
28
Show member pathways
8.2SLC2A4, IRS1, INSR, PPP1R3A
29
Show member pathways
8.1HNF4A, MAPK8IP1, AKT2, IRS1, INSR
30
Show member pathways
8.0INSR, IRS1, AKT2, MAPK8IP1, SLC2A4
317.9SLC2A4, HNF4A, WFS1, AKT2, IRS1, INSR
32
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
7.8PPP1R3A, INSR, IRS1, AKT2, SLC2A4
337.8PPP1R3A, INSR, IRS1, AKT2, SLC2A4
34
Show member pathways
7.3PPP1R3A, INSR, IRS1, AKT2, MAPK8IP1, HNF4A

Compounds for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

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45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 61Tocris Bioscience, 3BitterDB
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Compounds related to Diabetes Mellitus, Noninsulin-Dependent, Association with according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
13-o-methylglucose459.9SLC2A4, INSR
2vanadyl sulfate459.9IRS1, INSR
3grp-1459.9INSR, SLC2A4
4ag 1024459.8INSR, IRS1
5moxonidine459.8INSR, IRS1
6gliclazide45 51 1111.8INSR, SLC2A4
7glimepiride45 51 1111.8INSR, SLC2A4
82,4-dinitrophenol459.7IRS1, SLC2A4
9sulfonylurea459.6SLC2A4, IRS1
10c-peptide459.5INSR, IRS1, HNF4A
11thiazolidinedione459.4IRS1, SLC2A4
12phosphoenolpyruvate45 1110.4SLC2A4, HNF4A, IRS1
13vanadium459.4SLC2A4, IRS1, INSR
14phenylarsine oxide459.4SLC2A4, IRS1, INSR
15streptozotocin459.4SLC2A4, IRS1, INSR
16glucosamine45 24 1111.4INSR, IRS1, SLC2A4
17metformin45 51 1111.4INSR, IRS1, SLC2A4
18pioglitazone29 45 51 1112.4SLC2A4, IRS1, INSR
19anisomycin45 1110.4INSR, IRS1, SLC2A4
20sterol459.3SLC2A4, HNF4A, IRS1
21indinavir45 51 1111.3SLC2A4, IRS1
22rosiglitazone29 45 51 24 1113.3INSR, IRS1, SLC2A4
23phosphatidylinositol-3,4,5-trisphosphate45 2410.3INSR, IRS1, SLC2A4
24troglitazone45 29 61 1112.3SLC2A4, IRS1, INSR
25chloramphenicol45 3 51 1112.3INSR, HNF4A, SLC2A4
26ibmx45 61 2911.3SLC2A4, IRS1, INSR
27okadaic acid45 6110.3SLC2A4, HNF4A, IRS1
28tamoxifen45 51 29 1112.2SLC2A4, AKT2, IRS1
29sb 20358045 6110.1INSR, IRS1, AKT2, SLC2A4
30rapamycin459.0INSR, IRS1, AKT2, SLC2A4
31ly294002459.0INSR, IRS1, AKT2, SLC2A4
32wortmannin459.0INSR, IRS1, AKT2, SLC2A4
33palmitate459.0SLC2A4, HNF4A, IRS1, INSR
34glycerol45 24 1111.0INSR, IRS1, HNF4A, SLC2A4
35pd 98,059459.0SLC2A4, HNF4A, IRS1, INSR
36arginine458.9HNF4A, HNF1B, IRS1, INSR
37testosterone45 61 24 1111.9SLC2A4, HNF4A, IRS1, INSR
38dexamethasone45 51 29 1111.8SLC2A4, HNF4A, IRS1, INSR
39phosphotyrosine458.8INSR, IRS1, MAPK8IP1, SLC2A4
40alanine458.7INSR, IRS1, HNF4A, SLC2A4
41retinoic acid45 249.6SLC2A4, HNF4A, HNF1B, IRS1
42phosphatidylinositol458.6SLC2A4, HNF4A, AKT2, IRS1, INSR
432-deoxyglucose45 119.6PPP1R3A, INSR, IRS1, SLC2A4
44estrogen458.4INSR, IRS1, AKT2, HNF4A
45tyrosine458.4INSR, IRS1, AKT2, HNF4A, SLC2A4
46threonine458.0INSR, IRS1, AKT2, MAPK8IP1, HNF4A, SLC2A4
47serine458.0INSR, IRS1, AKT2, MAPK8IP1, HNF4A, SLC2A4
48glycogen45 248.8PPP1R3A, INSR, IRS1, AKT2, HNF4A, SLC2A4
49lipid457.8PPP1R3A, INSR, IRS1, AKT2, HNF4A, SLC2A4
50glucose456.9SLC2A4, PPP1R3A, INSR, IRS1, AKT2, MAPK8IP1

GO Terms for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

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16Gene Ontology
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Cellular components related to Diabetes Mellitus, Noninsulin-Dependent, Association with according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:0059019.5IRS1, INSR
2insulin receptor complexGO:0058999.2IRS1, INSR

Biological processes related to Diabetes Mellitus, Noninsulin-Dependent, Association with according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1kidney developmentGO:0018229.8HNF1B, WFS1
2positive regulation of glucose import in response to insulin stimulusGO:20012759.8IRS1, AKT2
3positive regulation of glucose metabolic processGO:0109079.7AKT2, IRS1
4positive regulation of fatty acid beta-oxidationGO:0320009.7AKT2, IRS1
5endocrine pancreas developmentGO:0310189.6HNF4A, HNF1B
6response to glucoseGO:0097499.4HNF4A, HNF1B
7positive regulation of glycogen biosynthetic processGO:0457259.4AKT2, IRS1, INSR
8positive regulation of glucose importGO:0463269.3AKT2, IRS1, INSR
9insulin receptor signaling pathwayGO:0082869.2INSR, IRS1, AKT2
10cellular response to insulin stimulusGO:0328698.9INSR, IRS1, AKT2, SLC2A4
11glucose homeostasisGO:0425938.5SLC2A4, HNF4A, WFS1, IRS1, INSR

Molecular functions related to Diabetes Mellitus, Noninsulin-Dependent, Association with according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.7HNF4A, HNF1B
2insulin-like growth factor receptor bindingGO:0051599.6IRS1, INSR
3phosphatidylinositol 3-kinase bindingGO:0435489.5IRS1, INSR
4SH2 domain bindingGO:0421699.4IRS1, INSR
5protein bindingGO:0055156.9INSR, IRS1, AKT2, MAPK8IP1, HNF1B, HNF4A

Products for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

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Sources for Diabetes Mellitus, Noninsulin-Dependent, Association with

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet