MCID: DBT047
MIFTS: 37

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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MalaCards based summary: Diabetes Mellitus, Noninsulin-Dependent, Association with is related to type 2 diabetes mellitus and familial hyperinsulinism. An important gene associated with Diabetes Mellitus, Noninsulin-Dependent, Association with is WFS1 (Wolfram syndrome 1 (wolframin)), and among its related pathways are Hepatic ABC Transporters and Prolactin signaling pathway. The compounds [3h]2-deoxyglucose and 3-o-methylglucose have been mentioned in the context of this disorder. Related mouse phenotypes are immune system and muscle.

Description from OMIM:46 125853

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

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Diabetes Mellitus, Noninsulin-Dependent, Association with, Aliases & Descriptions:

Name: Diabetes Mellitus, Noninsulin-Dependent, Association with 46


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


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

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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 33)
idRelated DiseaseScoreTop Affiliating Genes
1type 2 diabetes mellitus10.5GPD2
2familial hyperinsulinism10.4ABCC8
3neonatal diabetes mellitus10.4SLC2A2, HNF1B, ABCC8
4maturity-onset diabetes of the young10.3NEUROD1, PAX4, HNF4A, HNF1B
5cystic kidney10.3HNF1B, ENPP1
6polycystic kidney disease10.2HNF1B, ENPP1
7hyperinsulinism10.2ABCC8, IRS1, RETN
8hypoglycemia10.2SLC2A2, SLC2A4, GCGR, HNF4A, ABCC8
9ovarian cancer10.2AKT2, SLC2A4, HNF4A, HNF1B
10diabetes mellitus, noninsulin-dependent10.1HMGA1, SLC30A8, RETN
11galactosemia10.1IRS1, RETN, HNF1B, HNF4A
12insulinoma10.1GPD2, SLC2A2, HNF4A, WFS1, PAX4, ABCC8
13polycystic ovary syndrome10.1IRS1, CAPN10
14pancreatic cancer10.1HNF4A, AKT2, SLC2A4, HMGA1, IRS1
15liver cirrhosis10.1IRS1, RETN, SLC2A4
16hypercholesterolemia10.0HMGA1, RETN, CAPN10
17primary hyperoxaluria10.0HNF1B, RETN, ENPP1
18metabolic syndrome x10.0ABCC8, RETN, HNF4A, SLC2A2, CAPN10
19adenocarcinoma10.0AKT2, SLC2A4, NEUROD1, HNF1B, HNF4A, HMGA1
20chronic kidney failure10.0ENPP1, HNF1B, IL6, RETN
21sepsis10.0RETN, IL6, IRS1, SLC2A4
22coronary artery anomaly10.0RETN, IRS1, IL6, ENPP1
23type 1 diabetes mellitus10.0ENPP1, HNF4A, WFS1, NEUROD1, PAX4, RETN
24liver cancer10.0IRS1, IL6, HNF1B, HNF4A, HMGA1, SLC2A2
25glucose intolerance9.9CAPN10, RETN, ENPP1, SLC2A4, PAX4
26prostate cancer9.9IRS1, AKT2, IL6, MAPK8IP1, HNF1B, HNF4A
27breast cancer9.8SLC2A2, ENPP1, HMGA1, HNF4A, AKT2, IRS1
28atherosclerosis9.8IRS1, ENPP1, HNF4A, CAPN10, IL6, RETN
29gestational diabetes9.8ABCC8, IRS1, RETN, CAPN10, HNF4A, ENPP1
30hyperglycemia9.5IRS1, RETN, HNF1B, HNF4A, ENPP1, SLC2A4
31obesity9.4ABCC8, IRS1, RETN, CAPN10, HNF4A, GCGR
32insulin resistance9.0HNF1B, PPP1R3A, ABCC8, CAPN10, IL6, RETN
33diabetes mellitus8.9HNF1B, HNF4A, GCGR, ENPP1, SLC2A4, SLC2A2

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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Clinical features from OMIM:

125853

Drugs & Therapeutics 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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MGI Mouse Phenotypes related to Diabetes Mellitus, Noninsulin-Dependent, Association with:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.2SLC2A4, IRS1, AKT2, IL6, HNF1B, HMGA1
2MP:00053698.2PPP1R3A, AKT2, SLC2A2, SLC2A4, ENPP1, IRS1
3MP:00053757.6GCGR, ENPP1, SLC2A4, CAPN10, GPD2, RETN
4MP:00107687.3AKT2, IRS1, NEUROD1, PAX4, GPD2, SLC2A2
5MP:00053707.1GPD2, MAPK8IP1, IL6, RETN, AKT2, IRS1
6MP:00053796.7CAPN10, HNF1B, NEUROD1, GCGR, SLC2A4, SLC2A2
7MP:00053786.2PPP1R3A, GPD2, PAX4, NEUROD1, IRS1, AKT2
8MP:00053765.8PPP1R3A, SLC30A8, SLC2A2, SLC2A4, ABCC8, GPD2

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Variations for Diabetes Mellitus, Noninsulin-Dependent, Association with

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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:

6 (show all 32)
id Gene Name Type Significance SNP ID Assembly Location
1HNF1BNM_000458.2(HNF1B): c.1395C> G (p.Ser465Arg)single nucleotide variantPathogenicrs121918673GRCh37Chr 17, 36061127: 36061127
2ENPP1ENPP1, IVS20AS, 1-BP DEL, T, -11deletionrisk factor
3ENPP1NM_006208.2(ENPP1): c.517A> C (p.Lys173Gln)single nucleotide variantrisk factorrs1044498GRCh37Chr 6, 132172368: 132172368
4PAX4NM_006193.2(PAX4): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs114202595GRCh37Chr 7, 127254587: 127254587
5AKT2NM_001626.5(AKT2): c.821G> A (p.Arg274His)single nucleotide variantPathogenicrs121434593GRCh37Chr 19, 40743886: 40743886
6SLC30A8NM_173851.2(SLC30A8): c.412C> T (p.Arg138Ter)single nucleotide variantprotectivers200185429GRCh37Chr 8, 118165323: 118165323
7SLC30A8NM_173851.2(SLC30A8): c.101_107delAAGATCA (p.Lys34Serfs)deletionprotectiveGRCh37Chr 8, 118159222: 118159228
8LIPCLIPC, -250G-Asingle nucleotide variantrisk factor
9INSRNM_000208.2(INSR): c.3572G> A (p.Arg1191Gln)single nucleotide variantPathogenicrs121913150GRCh37Chr 19, 7120718: 7120718
10INSRNM_000208.2(INSR): c.3034G> A (p.Val1012Met)single nucleotide variantLikely pathogenicrs1799816GRCh37Chr 19, 7125518: 7125518
11IL6IL6, -174G-Csingle nucleotide variantrisk factor
12GPD2NM_001083112.2(GPD2): c.1904T> C (p.Phe635Ser)single nucleotide variantPathogenicrs121918407GRCh37Chr 2, 157435621: 157435621
13SLC2A2NM_000340.1(SLC2A2): c.589G> A (p.Val197Ile)single nucleotide variantPathogenicrs121909741GRCh37Chr 3, 170724960: 170724960
14GCGRNM_000160.4(GCGR): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs1801483GRCh37Chr 17, 79767715: 79767715
15IGF2BP2NM_006548.4(IGF2BP2): c.239+29254C> Asingle nucleotide variantrisk factorrs4402960GRCh37Chr 3, 185511687: 185511687
16IRS1IRS1, 3-BP DEL, GLY723deletionPathogenic
17IRS1NM_005544.2(IRS1): c.1823C> G (p.Thr608Arg)single nucleotide variantPathogenicrs104893642GRCh37Chr 2, 227661632: 227661632
18HMGA1HMGA1, 1-BP INS, IVS5, -13insertionrisk factor
19RETNRETN, +62G-Asingle nucleotide variantrisk factor
20CAPN10NM_023083.3(CAPN10): c.471-176G> Asingle nucleotide variantrisk factorrs3792267GRCh37Chr 2, 241531174: 241531174
21CAPN10CAPN10, IVS6, INS/DEL, 39-BPindelrisk factor
22CAPN10CAPN10, IVS13, g.16378G-Tsingle nucleotide variantrisk factor
23CAPN10CAPN10, IVS3, g.4841T-Csingle nucleotide variantrisk factor
24MAPK8IP1NM_005456.3(MAPK8IP1): c.176G> A (p.Ser59Asn)single nucleotide variantPathogenicrs119489103GRCh37Chr 11, 45919710: 45919710
25TCF7L2NM_030756.4(TCF7L2): c.382-41435C> Tsingle nucleotide variantrisk factorrs7903146GRCh37Chr 10, 114758349: 114758349
26TCF7L2NM_030756.4(TCF7L2): c.483+9017G> Tsingle nucleotide variantrisk factorrs12255372GRCh37Chr 10, 114808902: 114808902
27TCF7L2NM_030756.4(TCF7L2): c.483+7162G> Csingle nucleotide variantrisk factorrs11196205GRCh37Chr 10, 114807047: 114807047
28NEUROD1NM_002500.4(NEUROD1): c.332G> T (p.Arg111Leu)single nucleotide variantPathogenicrs104893649GRCh37Chr 2, 182543256: 182543256
29KCNJ11NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu)single nucleotide variantdrug response, risk factorrs5219GRCh37Chr 11, 17409572: 17409572
30ABCC8NM_001287174.1(ABCC8): c.4138C> T (p.Arg1380Cys)single nucleotide variantPathogenicrs137852673GRCh37Chr 11, 17417462: 17417462
31ABCC8NM_001287174.1(ABCC8): c.1744C> G (p.Leu582Val)single nucleotide variantPathogenicrs137852674GRCh37Chr 11, 17452434: 17452434
32HNF4ANM_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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Expression patterns in normal tissues for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

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

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

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9NEUROD1, HNF4A, SLC2A2
2
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.9IRS1, AKT2, SLC2A2
3
Show member pathways
9.9ABCC8, GCGR, SLC2A2
49.9SLC2A2, HNF4A, ABCC8
59.9SLC2A2, SLC2A4, HNF4A
69.9SLC2A2, RETN
79.8AKT2, HNF4A, SLC2A4
89.8SLC2A4, AKT2, IRS1
9
Show member pathways
9.8SLC2A4, AKT2, IRS1
109.7SLC2A4, AKT2, PPP1R3A
11
Show member pathways
9.7HMGA1, SLC2A4, SLC2A2
12
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
9.7IL6, AKT2, IRS1
139.5SLC2A4, AKT2, IRS1, ABCC8
14
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
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
9.5PPP1R3A, IRS1, AKT2, SLC2A4
15
Show member pathways
9.5SLC30A8, SLC2A2, SLC2A4, ABCC8
16
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.4IRS1, AKT2, IL6, SLC2A4
17
Show member pathways
9.4SLC2A4, IL6, AKT2, IRS1
18
Show member pathways
9.3PAX4, NEUROD1, AKT2, HNF1B, HNF4A, SLC2A2
19
Show member pathways
9.3IRS1, AKT2, IL6, MAPK8IP1, HNF4A
20
Show member pathways
9.3AKT2, IL6, HNF4A, SLC2A4, SLC2A2
219.2PPP1R3A, IRS1, AKT2, ENPP1, SLC2A4
22
Show member pathways
9.2IRS1, AKT2, IL6, MAPK8IP1, SLC2A4
23
Show member pathways
9.1PAX4, NEUROD1, AKT2, HNF1B, HNF4A, SLC2A4
24
Show member pathways
9.0SLC2A2, ABCC8, NEUROD1, IRS1, HNF1B, HNF4A
258.9NEUROD1, IRS1, AKT2, WFS1, HNF4A, ENPP1
26
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
8.9IRS1, AKT2, RETN, IL6, SLC2A4
278.8IRS1, RETN, IL6, HMGA1, SLC2A4
28
Show member pathways
8.7PPP1R3A, IRS1, AKT2, IL6, MAPK8IP1, CAPN10

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

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

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1[3h]2-deoxyglucose2810.4SLC2A2, SLC2A4
23-o-methylglucose4410.3SLC2A2, SLC2A4
3incretin4410.3SLC2A2, GCGR
4vanadium4410.2SLC2A4, IRS1
5fructose44 1111.2SLC2A2, SLC2A4, GCGR
6streptozotocin4410.2IRS1, SLC2A4, SLC2A2
7phosphoenolpyruvate44 1111.1SLC2A2, SLC2A4, HNF4A, IRS1
8glucose 6-phosphate44 2411.0SLC2A2, SLC2A4, PPP1R3A
9sulfonylurea4410.0ABCC8, IRS1, SLC2A4, SLC2A2
102-deoxyglucose44 1111.0PPP1R3A, IRS1, SLC2A4, SLC2A2
11pyruvate4410.0GPD2, HNF4A, SLC2A4, SLC2A2
12palmitate4410.0IRS1, HNF4A, SLC2A4
13repaglinide50 44 1111.9SLC30A8, NEUROD1, PAX4, ABCC8
14thiazolidinedione449.9SLC2A4, RETN, IRS1
15c-peptide449.9SLC2A2, HNF4A, RETN, IRS1
16sp 60012544 6110.9IRS1, IL6, MAPK8IP1
172,4-dinitrophenol449.9SLC2A4, IRS1
18glimepiride44 50 1111.9SLC2A4, RETN, ABCC8
19anisomycin44 1110.9IRS1, IL6, SLC2A4
20oligonucleotide449.9AKT2, HNF1B, HNF4A, GCGR, SLC2A2
21sb 20358044 6110.7IRS1, AKT2, IL6, SLC2A4
22potassium44 24 1111.7ABCC8, IRS1, CAPN10, SLC2A2
23pd 98,059449.6SLC2A4, HNF4A, IL6, IRS1
24atp44 2810.5ABCC8, MAPK8IP1, HNF4A, GCGR, ENPP1, SLC2A2
25pioglitazone28 44 50 1112.5IRS1, RETN, IL6, SLC2A4
26rapamycin449.5IRS1, AKT2, HMGA1, ENPP1, SLC2A4
27rosiglitazone28 44 50 24 1113.5IRS1, RETN, IL6, SLC2A4
28metformin44 50 1111.4ABCC8, IRS1, RETN, ENPP1, SLC2A4
29atorvastatin44 50 28 24 1113.3RETN, IL6, HMGA1
30actinomycin d449.3SLC2A4, IL6, RETN, IRS1
31sterol449.3IRS1, RETN, HNF4A, HMGA1, SLC2A4, SLC2A2
32troglitazone44 28 61 1112.3IRS1, IL6, SLC2A4
33phosphatidylinositol449.2IRS1, AKT2, RETN, HNF4A, ENPP1, SLC2A4
34arginine449.2ABCC8, IRS1, CAPN10, HNF1B, HNF4A, HMGA1
35threonine449.2IRS1, AKT2, MAPK8IP1, HNF4A, HMGA1, ENPP1
36testosterone44 61 24 1112.1ABCC8, IRS1, RETN, IL6, HNF4A, SLC2A4
37retinoic acid44 2410.1NEUROD1, IRS1, IL6, HNF1B, HNF4A, HMGA1
38estrogen449.0IRS1, AKT2, RETN, IL6, HNF4A, HMGA1
39ly294002449.0IRS1, AKT2, RETN, IL6, HMGA1, SLC2A4
40dexamethasone44 50 28 1112.0IRS1, RETN, IL6, HNF4A, ENPP1, SLC2A4
41nitric oxide44 24 1111.0RETN, IL6, MAPK8IP1, HNF4A, SLC2A4
42alanine449.0SLC2A4, HNF4A, IL6, RETN, IRS1
43serine448.9ABCC8, IRS1, AKT2, MAPK8IP1, HNF4A, HMGA1
44fatty acid448.7ABCC8, IRS1, RETN, HNF4A, HMGA1, GCGR
45cholesterol44 28 24 1111.7ABCC8, RETN, IL6, CAPN10, HNF1B, HNF4A
46tyrosine448.2ABCC8, IRS1, AKT2, RETN, IL6, HNF4A
47glycogen44 249.1SLC2A2, SLC2A4, ENPP1, GCGR, HNF4A, CAPN10
48calcium44 50 24 1111.0ABCC8, GPD2, NEUROD1, RETN, WFS1, MAPK8IP1
49lipid447.6PPP1R3A, ABCC8, IRS1, AKT2, RETN, IL6
50glucose446.3SLC2A2, ABCC8, PPP1R3A, GPD2, PAX4, SLC2A4

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

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

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058868.2SLC30A8, SLC2A2, SLC2A4, ENPP1, GCGR, CAPN10

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of type B pancreatic cell apoptotic processGO:200067510.4NEUROD1, WFS1
2positive regulation of glucose import in response to insulin stimulusGO:200127510.3IRS1, AKT2
3regulation of cell cycle arrestGO:07115610.3NEUROD1, AKT2
4positive regulation of glucose metabolic processGO:01090710.3AKT2, IRS1
5positive regulation of fatty acid beta-oxidationGO:03200010.3AKT2, IRS1
6positive regulation of glycogen biosynthetic processGO:04572510.2AKT2, IRS1
7insulin secretionGO:03007310.1SLC30A8, HNF1B, NEUROD1
8positive regulation of cell differentiationGO:04559710.0NEUROD1, PAX4
9energy reserve metabolic processGO:00611210.0ABCC8, GCGR, SLC2A2
10positive regulation of glucose importGO:04632610.0CAPN10, AKT2, IRS1
11regulation of insulin secretionGO:05079610.0ABCC8, NEUROD1, HNF4A, SLC2A2
12positive regulation of type B pancreatic cell apoptotic processGO:200067610.0IL6, CAPN10
13signal transduction involved in regulation of gene expressionGO:02301910.0HNF4A, NEUROD1
14response to glucoseGO:0097499.9SLC30A8, HNF4A, HNF1B, NEUROD1
15bone remodelingGO:0468499.8ENPP1, IL6
16response to insulinGO:0328689.7IRS1, RETN, IL6
17negative regulation of insulin receptor signaling pathwayGO:0466279.7ENPP1, IRS1
18endocrine pancreas developmentGO:0310189.5PAX4, NEUROD1, IL6, HNF1B, HNF4A, SLC2A2
19cellular response to insulin stimulusGO:0328699.4IRS1, AKT2, CAPN10, ENPP1, SLC2A4
20positive regulation of transcription, DNA-templatedGO:0458939.4HMGA1, HNF4A, HNF1B, IL6, NEUROD1
21glucose homeostasisGO:0425939.3SLC30A8, NEUROD1, IRS1, WFS1, HNF4A, GCGR
22small molecule metabolic processGO:0442819.0ABCC8, GPD2, GCGR, ENPP1, SLC2A4, SLC2A2

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

idNameGO IDScoreTop Affiliating Genes
1D-glucose transmembrane transporter activityGO:05505610.0SLC2A2, SLC2A4
2insulin receptor bindingGO:00515810.0ENPP1, IRS1
3sequence-specific DNA bindingGO:0435659.4HNF4A, HNF1B, NEUROD1, PAX4
4sequence-specific DNA binding transcription factor activityGO:0037009.2PAX4, NEUROD1, HNF1B, HNF4A, HMGA1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
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51PubMed
52QIAGEN
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62UMLS
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