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
Carboxyl-ester lipase maturity-onset diabetes of the young is associated with development of pancreatic cysts and upregulated MAPK signaling in secretin-stimulated duodenal fluid. (24062244)
2014
2
Exocrine pancreatic function in hepatocyte nuclear factor 1I^-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. (23600988)
2013
3
HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response. (24299156)
2013
4
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. (23348805)
2013
5
Co-inheritance of HNF1a and GCK mutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing. (23009393)
2013
6
Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families. (23652628)
2013
7
A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5). (23926411)
2012
8
Clinical features and treatment of maturity onset diabetes of the young (MODY). (22654519)
2012
9
Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience. (22432796)
2012
10
Defective PAX4 R192H transcriptional repressor activities associated with maturity onset diabetes of the young and early onset-age of type 2 diabetes. (22521316)
2012
11
A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young. (21263211)
2011
12
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. (21395678)
2011
13
Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease. (21784842)
2011
14
Long-term renal changes in the liver-specific glucokinase knockout mouse: implications for renal disease in maturity-onset diabetes of the young 2. (21316027)
2011
15
Association of novel variants in the hepatocyte nuclear factor 4A gene with maturity onset diabetes of the young and early onset type 2 diabetes. (21062274)
2011
16
Animal model of human maturity onset diabetes of the young--type 2: similar but different? (21316026)
2011
17
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. (19790256)
2009
18
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. (17828387)
2007
19
Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients. (16632067)
2006
20
Maturity-onset diabetes of the young: an update. (17175890)
2006
21
Molecular diagnosis on indication of maturity onset diabetes of the young; results from 184 patients]. (15693590)
2005
22
Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation? (15114102)
2004
23
Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). (15305805)
2004
24
A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene. (15031772)
2004
25
A novel mutation in exon 5 of the glucokinase gene in an Argentinian family with maturity onset diabetes of the young. (14580233)
2003
26
GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). (12442280)
2002
27
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. (12050210)
2002
28
Different genes, different diabetes: lessons from maturity-onset diabetes of the young. (12173691)
2002
29
Necrobiosis lipodica is a clinical feature of maturity-onset diabetes of the young. (12087034)
2002
30
Maturity onset diabetes of the young as a model for complex disease. (11485013)
2001
31
Beta-cell-targeted expression of a dominant-negative hepatocyte nuclear factor-1 alpha induces a maturity-onset diabetes of the young (MODY)3-like phenotype in transgenic mice. (11713231)
2001
32
Genetic variation in the hepatocyte nuclear factor (HNF)-3alpha gene does not contribute to maturity-onset diabetes of the young in Japanese. (11355750)
2001
33
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. (11590126)
2001
34
Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the young. (11355020)
2001
35
Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. (10754480)
2000
36
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. (10102714)
1999
37
A novel Phe75fsdelT mutation in the hepatocyte nuclear factor-4alpha gene in a Danish pedigree with maturity-onset diabetes of the young. (9920109)
1999
38
Maturity-onset diabetes of the young: recent findings indicate insulin resistance/obesity are not factors. (9830950)
1998
39
Glucose utilization and production in patients with maturity-onset diabetes of the young caused by a mutation of the hepatocyte nuclear factor-1alpha gene. (9726235)
1998
40
Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. (9472859)
1998
41
A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young. (9736233)
1998
42
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. (9075818)
1997
43
A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. (9243109)
1997
44
A case of type-1 diabetes mellitus formerly diagnosed as maturity-onset diabetes of the young (MODY) carrying suggestive MODY3 gene. (9483378)
1997
45
Maturity-onset diabetes of the young (MODY): three case reports and new perspectives. (9364344)
1997
46
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity- onset diabetes of the young (MODY1). (8945471)
1996
47
Glucokinase gene abnormalities in maturity-onset diabetes of the young (MODY) and late-onset NIDDM]. (7983782)
1994
48
Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young. (8404429)
1993
49
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. (1303265)
1992
50
Linkage analysis of the human insulin receptor gene in type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young. (3234633)
1988

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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27ICD9CM
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