MODY
MCID: MTR004
MIFTS: 63

Maturity-Onset Diabetes of the Young (MODY) malady

Summaries for Maturity-Onset Diabetes of the Young

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes caused... more...

MalaCards: Maturity-Onset Diabetes of the Young, also known as MODY, is related to diabetes mellitus and pancreatitis. An important gene associated with Maturity-Onset Diabetes of the Young is GCK (glucokinase (hexokinase 4)), and among its related pathways are Regulation of beta-cell development and Type II diabetes mellitus. The drugs acetohexamide and chlorpropamide and the compounds glucose and c-peptide have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and liver, and related mouse phenotypes are growth/size and homeostasis/metabolism.

Disease Ontology:8 A genetic disease that has material basis in mutations in the mody genes disrupting insulin production.

Description from OMIM:46 610508, 125850, 613375, 612225, 606394 606392, 137920, 609812, 613370, 125851, 600496 more

Aliases & Classifications for Maturity-Onset Diabetes of the Young

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 60UMLS, 46OMIM
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Aliases & Descriptions:

maturity-onset diabetes of the young 8 42 20 10
mody 8 42
maturity onset diabetes mellitus in young 60
diabetes mellitus, non-insulin-dependent 60
mason type diabetes 42
mason-type diabetes 8


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Disease Ontology8 DOID:0050524

Related Diseases for Maturity-Onset Diabetes of the Young

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17GeneCards, 18GeneDecks
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Diseases in the Maturity-Onset Diabetes of the Young, Type 1 family:

maturity-onset diabetes of the young Maturity-Onset Diabetes of the Young, Type 8
Maturity-Onset Diabetes of the Young, Type 2 Maturity-Onset Diabetes of the Young, Type 3
Maturity-Onset Diabetes of the Young, Type 4 Maturity-Onset Diabetes of the Young, Type 6
Maturity-Onset Diabetes of the Young, Type 7 Maturity-Onset Diabetes of the Young, Type 9
Maturity-Onset Diabetes of the Young, Type 5 Maturity-Onset Diabetes of the Young, Type 11
Maturity-Onset Diabetes of the Young, Type 10

Diseases related to Maturity-Onset Diabetes of the Young via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus31.1GCKR, GCK, HNF1A, HNF4A, HNF1B, PDX1
2pancreatitis31.1INS, CELA3B, CEL
3hypoglycemia31.0GCKR, GCK, HNF4A, INS
4hepatitis30.9HNF4A
5type 2 diabetes mellitus30.9FOXA2, ISL1, PDX1, HNF1B, HNF4A, HNF1A
6hyperinsulinemic hypoglycemia30.8INS, GCK
7obesity30.6GCKR, GCK, HNF1A, HNF4A, ISL1, FOXA2
8hyperglycemia30.4GCKR, GCK, HNF1A, HNF4A, HNF1B, PDX1
9hyperinsulinism30.4GCK, INS
10gestational diabetes30.4GCK, HNF1A, HNF4A, INS
11familial hyperinsulinism30.4GCK
12permanent neonatal diabetes mellitus30.4INS, GCK
13neonatal diabetes mellitus30.1GCK, HNF1B, PDX1, INS
14maturity-onset diabetes of the young, type 810.7
15maturity-onset diabetes of the young, type 110.7
16maturity-onset diabetes of the young, type 610.7
17maturity-onset diabetes of the young, type 710.7
18maturity-onset diabetes of the young, type 910.7
19maturity-onset diabetes of the young, type 210.7
20maturity-onset diabetes of the young, type 310.7
21maturity-onset diabetes of the young, type 410.7
22hepatitis a10.6
23renal cysts and diabetes syndrome10.5
24maturity-onset diabetes of the young type1010.5
25diabetic nephropathy10.4
26type 1 diabetes mellitus10.4
27maturity-onset diabetes of the young, type 510.4
28maturity-onset diabetes of the young type1110.4
29maturity-onset diabetes of the young, type 1110.4
30maturity-onset diabetes of the young, type 1010.4
31periodontal disease10.3
32periodontitis10.3
33insulin-resistance type b10.3
34diabetes mellitus, insulin-resistant, with acanthosis nigricans10.3
35diabetes, type 210.3
36rh-mod syndrome10.3
37short fifth metacarpals - insulin resistance10.3
38proliferative diabetic retinopathy10.3
39diabetic ketoacidosis10.3
40necrobiosis lipoidica10.3
41thyroid malformation10.3
42duodenitis10.3
43granuloma annulare10.3
44diabetic retinopathy10.3
45liver disease10.3
46thyroiditis10.3
47colorectal cancer10.3
48transient neonatal diabetes mellitus10.3
49monogenic diabetes10.3
50insulinoma10.0GCK, HNF1A, HNF4A, PDX1, INS, PAX4

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young:



Diseases related to maturity-onset diabetes of the young

Clinical Features for Maturity-Onset Diabetes of the Young

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46OMIM
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Clinical features from OMIM:

610508, 125850, 613375, 612225, 606394, 606392, 137920, 609812, 613370, 125851 600496 more

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Maturity-Onset Diabetes of the Young

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20GeneTests
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Genetic tests related to Maturity-Onset Diabetes of the Young:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Multi-Gene Panels20

Anatomical Context for Maturity-Onset Diabetes of the Young

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32MalaCards
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MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young:

32
Testes, Kidney, Liver, Pancreas, Thyroid, Uterus

Animal Models for Maturity-Onset Diabetes of the Young or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537810.9CEL, GCK, HNF1A, HNF4A, HNF1B, PDX1
2MP:000537610.8HNF1B, HNF4A, HNF1A, GCK, GCKR, PDX1
3MP:000537010.8GCK, HNF1A, HNF4A, HNF1B, PDX1, FOXA2
4MP:000537910.8GCK, HNF1A, HNF1B, PDX1, ISL1, FOXA2
5MP:001076810.8PDX1, HNF1B, HNF4A, HNF1A, GCK, ISL1
6MP:000538110.7HNF1A, PDX1, ISL1, FOXA2, NEUROD1, INS
7MP:000536710.7GCK, HNF1A, HNF1B, PDX1, NEUROD1, INS
8MP:000287310.6KLF11, HNF4A, PDX1, ISL1, FOXA2, BLK
9MP:000536910.6ACVR2B, INS, ISL1, PDX1, HNF1B, HNF1A
10MP:000538410.5HNF1A, HNF4A, PDX1, ISL1, FOXA2, NEUROD1
11MP:000538010.3HNF4A, HNF1B, ISL1, FOXA2, INS, ACVR2B

Publications for Maturity-Onset Diabetes of the Young

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50PubMed
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Articles related to Maturity-Onset Diabetes of the Young:

(show top 50)    (show all 257)
idTitleAuthorsYear
1
Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. (23771925)
2013
2
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. (22493702)
2012
3
Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3). (22672869)
2012
4
Response to oral gliclazide in a pre-pubertal child with hepatic nuclear factor-1 alpha maturity onset diabetes of the young. (21242637)
2011
5
Successful simultaneous pancreas kidney transplantation in maturity-onset diabetes of the young type 5. (21989275)
2011
6
Who should have genetic testing for maturity-onset diabetes of the young? (21521318)
2011
7
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. (21163139)
2010
8
Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young. (19336507)
2009
9
Characterization of glucokinase polymorphisms associated with maturity-onset diabetes of the young (MODY2) in Jordanian population. (20458967)
2009
10
The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. (18003757)
2008
11
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. (18268044)
2008
12
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. (18297260)
2008
13
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. (17327436)
2007
14
Genetic basis of maturity-onset diabetes of the young. (16632099)
2006
15
Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1. (15928245)
2005
16
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. (16249435)
2005
17
Genetic and clinical characteristics of maturity-onset diabetes of the young. (15955117)
2005
18
Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families. (15001650)
2004
19
Identification of a locus for maturity-onset diabetes of the young on chromosome 8p23. (15111509)
2004
20
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. (14517946)
2003
21
Decreased glibenclamide uptake in hepatocytes of hepatocyte nuclear factor-1alpha-deficient mice: a mechanism for hypersensitivity to sulfonylurea therapy in patients with maturity-onset diabetes of the young, type 3 (MODY3). (12475773)
2002
22
Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene. (12086970)
2002
23
Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4alpha gene. (12413008)
2002
24
Prevalence of maturity-onset diabetes of the young mutations in Brazilian families with autosomal-dominant early-onset type 2 diabetes. (11315851)
2001
25
Counterregulatory responses to hypoglycemia in patients with maturity-onset diabetes of the young caused by HNF-1alpha gene mutations (MODY3). (11174836)
2001
26
Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects. (11246894)
2001
27
R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family. (11043869)
2000
28
Impaired insulin secretion and increased insulin sensitivity in familial maturity-onset diabetes of the young 4 (insulin promoter factor 1 gene). (11078452)
2000
29
Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1. (10940385)
2000
30
Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians. (10720084)
2000
31
Functional study of the E276Q mutant hepatocyte nuclear factor-4alpha found in type 1 maturity-onset diabetes of the young: impaired synergy with chicken ovalbumin upstream promoter transcription factor II on the hepatocyte nuclear factor-1 promoter. (10331424)
1999
32
Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. (9539292)
1998
33
Liver and kidney function in Japanese patients with maturity-onset diabetes of the young. (9839108)
1998
34
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). (10694920)
1998
35
Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus. (9162575)
1997
36
Diabetic lipemia with maturity-onset diabetes of the young. (9260775)
1997
37
Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2). (9078243)
1997
38
Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase. (8591819)
1995
39
Insulin-like growth factor-binding protein-2 and insulin: studies in children with type 1 diabetes mellitus and maturity-onset diabetes of the young. (8530614)
1995
40
Maturity-onset diabetes of the young (MODY) at least ten times more common in Europe than previously assumed? (8786024)
1995
41
Search for a third susceptibility gene for maturity-onset diabetes of the young. Studies with eleven candidate genes. (7508874)
1994
42
cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young. (8490617)
1993
43
Mapping diabetes-susceptibility genes. Lessons learned from search for DNA marker for maturity-onset diabetes of the young. (1607066)
1992
44
Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. (1899928)
1991
45
Linkage studies of maturity onset diabetes of the young--R.W. pedigree. (3240841)
1988
46
Insulin resistance in maturity onset diabetes of the young. (3301443)
1987
47
Maturity onset diabetes of the young in Asian Indians. (3327301)
1987
48
Abnormalities in insulin secretion in healthy offspring of Indian patients with maturity-onset diabetes of the young. (3512208)
1986
49
HLA and maturity onset diabetes of the young. (6884609)
1983
50
Insulin binding and insulin action in fibroblasts from patients with maturity-onset diabetes of the young. (7028547)
1981

Genetic Variations for Maturity-Onset Diabetes of the Young

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Expression for genes affiliated with Maturity-Onset Diabetes of the Young

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Maturity-Onset Diabetes of the Young

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young.

Pathways for genes affiliated with Maturity-Onset Diabetes of the Young

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53Reactome, 29KEGG, 49PharmGKB, 37NCBI BioSystems Database, 4Cell Signaling Technology, 51QIAGEN, 12EMD Millipore
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Pathways related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6PAX4, GCK, INS, NEUROD1, FOXA2, PDX1
2
Hide members
10.6GCK, HNF1A, HNF4A, HNF1B, PDX1, ISL1
310.6GCK, HNF1A, HNF4A, PDX1, FOXA2, INS
410.6HNF1A, HNF4A, PDX1, FOXA2, NEUROD1, INS
5
Hide members
10.6KCNRG, KCTD4, GCK, HNF4A, FOXA2, NEUROD1
6
Hide members
10.6GCK, HNF4A, HNF1B, PDX1, NEUROD1
710.5INS, PDX1, HNF1B, HNF1A
810.5INS, PDX1, GCK
910.5INS, FOXA2, ISL1
1010.5NEUROD1, ISL1, HNF4A
11
Dichloroethylene metabolism
Hide members
10.5HNF1A, HNF4A
12
Hide members
10.5PAX4, ACVR2A, ACVR2B
1310.5NEUROD1, PAX4
14
Hide members
10.5ACVR2A, ACVR2B

Compounds for genes affiliated with Maturity-Onset Diabetes of the Young

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR
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Compounds related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1glucose4411.1PAX4, KLF11, GCKR, GCK, HNF1A, HNF4A
2c-peptide4411.0GCK, HNF1A, HNF4A, PDX1, FOXA2, INS
3glycogen44 2411.9GCKR, GCK, HNF4A, FOXA2, PPP1R3B, INS
4sulfonylurea4410.9INS, PDX1, HNF1A, GCK
5katp4410.9GCK, PDX1, FOXA2, INS
6fatty acid4410.9GCK, HNF1A, HNF4A, FOXA2, INS, CEL
7retinoic acid44 2411.9GCK, HNF1A, HNF4A, HNF1B, PDX1, NEUROD1
8preproinsulin4410.9INS, PDX1, GCK
9i-app4410.9GCK, PDX1, INS
10incretin4410.9INS, PDX1, GCK
11proglucagon4410.9ISL1, PDX1, GCK
12repaglinide44 49 1112.9NEUROD1, INS, PAX4
13cholesterol44 28 11 2413.9GCK, HNF1A, HNF4A, HNF1B, INS, CEL
14oligonucleotide4410.8GCK, HNF1A, HNF4A, HNF1B, PDX1, CEL
15nnmt4410.8HNF1A, HNF1B
16mannitol-1-phosphate4410.8GCKR, GCK
17tolbutamide44 49 28 1113.8INS, HNF1A, GCK
18mannoheptulose4410.8GCKR, GCK
19glycerol44 11 2412.8GCK, HNF4A, INS, CEL
20chromium picolinate4410.8INS, GCK
21nicotinamide44 1111.8HNF1B, PDX1, INS
22streptozotocin4410.8GCK, PDX1, INS
23pyruvate4410.7PDX1, HNF4A, HNF1A, GCK
24fructose 1-phosphate44 2411.7GCKR, GCK
25threonine4410.7GCK, HNF4A, PDX1, ACVR2B, ACVR2A, CEL
26phosphoenolpyruvate44 1111.6HNF4A, HNF1A, GCK
27myristic acid44 11 2412.6HNF4A, INS, CEL
28uric acid44 2411.5INS, HNF1B, GCKR
29digitonin4410.5BLK, GCK
30fructose-6-phosphate44 1111.4GCK, GCKR
31serine4410.3GCK, HNF4A, PDX1, INS, ACVR2B, ACVR2A

GO Terms for genes affiliated with Maturity-Onset Diabetes of the Young

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16Gene Ontology
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Biological processes related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1endocrine pancreas developmentGO:03101811.0PAX4, GCK, HNF1A, HNF4A, HNF1B, PDX1
2glucose homeostasisGO:04259311.0GCK, HNF1A, HNF4A, PDX1, FOXA2, NEUROD1
3negative regulation of transcription from RNA polymerase II promoterGO:00012211.0KLF11, HNF1A, HNF1B, PDX1, ISL1, FOXA2
4positive regulation of transcription from RNA polymerase II promoterGO:04594410.9HNF1A, HNF4A, HNF1B, PDX1, ISL1, FOXA2
5regulation of insulin secretionGO:05079610.9INS, NEUROD1, HNF4A, HNF1A, GCK
6insulin secretionGO:03007310.9HNF1A, HNF1B, PDX1, NEUROD1, ACVR2B
7response to glucose stimulusGO:00974910.9HNF1A, HNF4A, HNF1B, NEUROD1, ACVR2B
8positive regulation of insulin secretionGO:03202410.9GCK, PDX1, ISL1, BLK
9signal transduction involved in regulation of gene expressionGO:02301910.9NEUROD1, FOXA2, HNF4A
10anterior/posterior pattern specificationGO:00995210.9HNF1B, NEUROD1, ACVR2B, ACVR2A
11positive regulation of cell differentiationGO:04559710.9PAX4, INS, NEUROD1
12regulation of pronephros sizeGO:03556510.8HNF1A, HNF1B
13negative regulation of glucokinase activityGO:03313210.8GCKR, FOXA2
14detection of glucoseGO:05159410.8PDX1, GCK
15positive regulation of transcription, DNA-dependentGO:04589310.8HNF1A, HNF4A, HNF1B, FOXA2, NEUROD1
16glucose transportGO:01575810.8GCKR, GCK, INS
17positive regulation of activin receptor signaling pathwayGO:03292710.8ACVR2A, ACVR2B
18positive regulation of transcription initiation from RNA polymerase II promoterGO:06026110.8HNF1B, HNF1A
19negative regulation of gluconeogenesisGO:04572110.8INS, GCK
20transmembrane receptor protein serine/threonine kinase signaling pathwayGO:00717810.8ACVR2A, ACVR2B
21positive regulation of glycolysisGO:04582110.8GCK, INS
22cellular glucose homeostasisGO:00167810.7GCK, GCKR
23regulation of Wnt receptor signaling pathwayGO:03011110.7HNF1B, HNF1A
24neuron fate specificationGO:04866510.7FOXA2, ISL1
25positive regulation of glycogen biosynthetic processGO:04572510.7GCK, INS
26nitric oxide mediated signal transductionGO:00726310.6NEUROD1, PDX1
27SMAD protein signal transductionGO:06039510.6HNF4A, HNF1A
28triglyceride homeostasisGO:07032810.5GCKR, HNF4A
29gastrulation with mouth forming secondGO:00170210.5ACVR2A, ACVR2B
30pancreas developmentGO:03101610.4ISL1, ACVR2B
31positive regulation of DNA bindingGO:04338810.2ISL1, PDX1

Molecular functions related to Maturity-Onset Diabetes of the Young according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00370010.9PAX4, KLF11, HNF1A, HNF4A, HNF1B, PDX1
2transcription regulatory region DNA bindingGO:04421210.8KLF11, HNF1A, HNF4A, HNF1B, FOXA2
3double-stranded DNA bindingGO:00369010.8PAX4, NEUROD1, FOXA2, HNF1A
4RNA polymerase II activating transcription factor bindingGO:00110210.7HNF4A, ISL1, NEUROD1
5sequence-specific DNA bindingGO:04356510.7HNF1A, HNF4A, HNF1B, NEUROD1, PAX4
6inhibin bindingGO:03471110.7ACVR2A, ACVR2B
7transcription factor bindingGO:00813410.7NEUROD1, FOXA2, PDX1, HNF1A
8receptor signaling protein serine/threonine kinase activityGO:00470210.6ACVR2A, ACVR2B
9RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.6HNF4A, HNF1B, FOXA2
10RNA polymerase II transcription coactivator activityGO:00110510.5NEUROD1, ISL1
11activin bindingGO:04818510.5ACVR2A, ACVR2B
12transforming growth factor beta-activated receptor activityGO:00502410.4ACVR2A, ACVR2B
13protein heterodimerization activityGO:04698210.2HNF1A, HNF1B, PDX1, NEUROD1

Products for genes affiliated with Maturity-Onset Diabetes of the Young

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3CDC
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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