MODY4
MCID: MTR021
MIFTS: 44

Maturity-Onset Diabetes of the Young, Type 4 (MODY4)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 4

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 4:

Name: Maturity-Onset Diabetes of the Young, Type 4 57 20
Maturity-Onset Diabetes of the Young Type 4 12 29 6 15
Mody4 57 12 20 72
Mody Type 4 12 20 72
Mody, Type Iv 57 13
Diabetes of the Young, Maturity-Onset, Type 4 39
Maturity-Onset Diabetes of the Young, Type Iv 70
Type 4 Maturity-Onset Diabetes of the Young 20
Mody Insulin Promoter Factor-1 Related 20
Maturity-Onset Diabetes of the Young 4 72
Diabetes Mellitus Mody Type 4 20
Mody, Type 4 57
Mody-4 72

Characteristics:

HPO:

31
maturity-onset diabetes of the young, type 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111103
OMIM® 57 606392
MeSH 44 D003924
MedGen 41 C1833382
SNOMED-CT via HPO 68 263681008 44054006 609561005
UMLS 70 C1833382

Summaries for Maturity-Onset Diabetes of the Young, Type 4

UniProtKB/Swiss-Prot : 72 Maturity-onset diabetes of the young 4: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 4, also known as maturity-onset diabetes of the young type 4, is related to gestational diabetes and insulinoma. An important gene associated with Maturity-Onset Diabetes of the Young, Type 4 is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Affiliated tissues include pancreas and pancreatic islet, and related phenotypes are type ii diabetes mellitus and maturity-onset diabetes of the young

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in mutation in the PDX1 gene on chromosome 13q12.2.

More information from OMIM: 606392

Related Diseases for Maturity-Onset Diabetes of the Young, Type 4

Diseases in the Maturity-Onset Diabetes of the Young family:

Maturity-Onset Diabetes of the Young, Type 1 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 10
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13
Maturity-Onset Diabetes of the Young, Type 14

Diseases related to Maturity-Onset Diabetes of the Young, Type 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 gestational diabetes 29.1 KCNJ11 INS HNF4A HNF1A GCK ABCC8
2 insulinoma 29.1 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1A
3 hyperglycemia 28.2 SLC2A2 PDX1 PAX4 KCNJ11 INS HNF4A
4 maturity-onset diabetes of the young, type 7 27.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
5 type 2 diabetes mellitus 27.5 SLC2A2 PDX1 PAX4 NEUROG3 NEUROD1 KCNJ11
6 diabetes mellitus 27.2 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
7 pancreatic agenesis 27.2 SLC2A2 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3
8 permanent neonatal diabetes mellitus 26.7 SLC2A2 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3
9 maturity-onset diabetes of the young, type 3 26.4 SLC2A2 PDX1 PAX4 NKX6-1 NEUROD1 KLF11
10 maturity-onset diabetes of the young 26.1 SLC2A2 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3
11 hepatic adenomas, familial 10.2 HNF4A HNF1A
12 type 1 diabetes mellitus 11 10.2 PDX1 NEUROD1 HNF1A
13 fructose-1,6-bisphosphatase deficiency 10.1 GCK ABCC8
14 munchausen by proxy 10.1 KCNJ11 GCK ABCC8
15 hyperinsulinemic hypoglycemia, familial, 7 10.0 KCNJ11 GCK ABCC8
16 coronary artery vasospasm 10.0 KCNJ11 ABCC8
17 fanconi syndrome 10.0 SLC2A2 HNF4A HNF1A
18 hyperinsulinemic hypoglycemia, familial, 6 10.0 KCNJ11 GCK ABCC8
19 diarrhea 4, malabsorptive, congenital 10.0 NEUROG3 NEUROD1
20 type 1 diabetes mellitus 20 10.0 INS HNF1A
21 donohue syndrome 10.0 INS GCK
22 cardiomyopathy, dilated, 1o 10.0 SLC2A2 KCNJ11 ABCC8
23 aminoaciduria 9.9 HNF4A HNF1A
24 cantu syndrome 9.9 KCNJ11 ABCC8
25 wolfram syndrome 9.9 KCNJ11 INS GCK
26 pancreas, dorsal, agenesis of 9.9
27 pancreatic agenesis 1 9.9
28 acute insulin response 9.9 KCNJ11 INS ABCC8
29 diabetes mellitus, neonatal, with congenital hypothyroidism 9.9 NKX6-2 NKX6-1 NEUROD1
30 asphyxia neonatorum 9.9 KCNJ11 INS ABCC8
31 fanconi-bickel syndrome 9.8 SLC2A2 INS ABCC8
32 renal glucosuria 9.8 SLC2A2 INS HNF1B HNF1A
33 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.8 KCNJ11 INS ABCC8
34 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.8 INS HNF4A HNF1A GCK
35 prediabetes syndrome 9.8 SLC2A2 INS HNF4A GCK
36 factitious disorder 9.8 KCNJ11 INS GCK ABCC8
37 diabetes mellitus, ketosis-prone 9.7 PAX4 KCNJ11 INS ABCC8
38 hyperinsulinemic hypoglycemia, familial, 2 9.7 KCNJ11 INS HNF4A ABCC8
39 maturity-onset diabetes of the young, type 14 9.7 PDX1 PAX4 NEUROD1 KLF11 GCK BLK
40 diabetes mellitus, permanent neonatal, 1 9.7 PDX1 KCNJ11 INS GCK ABCC8
41 hypoglycemia 9.6 SLC2A2 KCNJ11 INS GCK ABCC8
42 glucose metabolism disease 9.6 SLC2A2 KCNJ11 INS GCK ABCC8
43 type 1 diabetes mellitus 9.5 PDX1 PAX4 NEUROD1 INS HNF4A HNF1A
44 hyperinsulinism 9.5 KCNJ11 INS HNF4A HNF1A GCK ABCC8
45 hyperinsulinemic hypoglycemia 9.4 PDX1 KCNJ11 INS HNF4A HNF1A GCK
46 glucose intolerance 9.3 NEUROG3 NEUROD1 KCNJ11 INS GCK ABCC8
47 body mass index quantitative trait locus 11 9.2 SLC2A2 KCNJ11 INS HNF4A HNF1A GCK
48 maturity-onset diabetes of the young, type 13 9.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
49 transient neonatal diabetes mellitus 9.0 SLC2A2 PDX1 NEUROG3 NEUROD1 KCNJ11 INS
50 renal cysts and diabetes syndrome 8.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 4:



Diseases related to Maturity-Onset Diabetes of the Young, Type 4

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 4

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 4:

31
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 31 HP:0005978
2 maturity-onset diabetes of the young 31 HP:0004904

Clinical features from OMIM®:

606392 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young, Type 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.23 BLK CEL GCK HNF1A KCNJ11 NEUROD1

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.28 ABCC8 BLK GCK HNF1A HNF1B HNF4A
2 homeostasis/metabolism MP:0005376 10.27 ABCC8 BLK CEL GCK HNF1A HNF1B
3 growth/size/body region MP:0005378 10.22 ABCC8 CEL GCK HNF1A HNF1B HNF4A
4 cellular MP:0005384 10.2 GCK HNF1A HNF1B HNF4A INS NEUROD1
5 mortality/aging MP:0010768 10.07 GCK HNF1A HNF1B HNF4A INS KCNJ11
6 liver/biliary system MP:0005370 9.92 CEL GCK HNF1A HNF1B HNF4A INS
7 no phenotypic analysis MP:0003012 9.7 ABCC8 HNF1A INS KCNJ11 NEUROG3 NKX6-1
8 normal MP:0002873 9.56 BLK HNF4A INS KLF11 NEUROG3 NKX6-2
9 renal/urinary system MP:0005367 9.28 GCK HNF1A HNF1B HNF4A INS NEUROD1

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 4

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 4

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 4

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 4:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 4 29 PDX1

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 4

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 4:

40
Pancreas, Pancreatic Islet

Publications for Maturity-Onset Diabetes of the Young, Type 4

Articles related to Maturity-Onset Diabetes of the Young, Type 4:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. 61 57 6
20621032 2010
2
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. 6 57 61
9326926 1997
3
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. 57 6
19496967 2009
4
Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. 6 57
9649577 1998
5
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. 57 6
8506821 1993
6
Pancreas duodenum homeobox-1 transcriptional activation requires interactions with p300. 6
15001545 2004
7
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 57
11575290 2001
8
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. 6
8988180 1997
9
PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes. 61
33746035 2021
10
Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review. 61
32763092 2021
11
Coxsackievirus B Type 4 Infection in β Cells Downregulates the Chaperone Prefoldin URI to Induce a MODY4-like Diabetes via Pdx1 Silencing. 61
33205075 2020
12
Elevated β-cell stress levels promote severe diabetes development in mice with MODY4. 61
31682591 2020
13
First Case Report of Maturity-Onset Diabetes of the Young Type 4 Pedigree in a Chinese Family. 61
31333579 2019
14
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors. 61
29396371 2018
15
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. 61
28436541 2018
16
Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene. 61
27879214 2016
17
Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene. 61
27879211 2016
18
Genetically Targeted Dipeptidyl Peptidase-4 Inhibitor Use in a Patient with a Novel Mutation of MODY type 4. 61
26543388 2015
19
Sox17 regulates insulin secretion in the normal and pathologic mouse β cell. 61
25144761 2014
20
Sox9-haploinsufficiency causes glucose intolerance in mice. 61
21829703 2011
21
Identification of 9-cis-retinoic acid as a pancreas-specific autacoid that attenuates glucose-stimulated insulin secretion. 61
21115832 2010
22
Loss of Nix in Pdx1-deficient mice prevents apoptotic and necrotic β cell death and diabetes. 61
20978346 2010
23
An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age. 61
19515026 2009
24
MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells. 61
19843526 2009
25
Pdx1 (MODY4) regulates pancreatic beta cell susceptibility to ER stress. 61
19855005 2009
26
PDX1 deficiency causes mitochondrial dysfunction and defective insulin secretion through TFAM suppression. 61
19656489 2009
27
The diabetes gene Pdx1 regulates the transcriptional network of pancreatic endocrine progenitor cells in mice. 61
19487809 2009
28
Permanent Neonatal Diabetes Mellitus 61
20301620 2008
29
Meta-analysis of the IPF1 D76N polymorphism in a worldwide type 2 diabetes population. 61
17592437 2007
30
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. 61
17327436 2007
31
IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes. 61
16092045 2005
32
The coactivator Bridge-1 increases transcriptional activation by pancreas duodenum homeobox-1 (PDX-1). 61
15885879 2005
33
Identification of PCIF1, a POZ domain protein that inhibits PDX-1 (MODY4) transcriptional activity. 61
15121856 2004
34
Experimental models of transcription factor-associated maturity-onset diabetes of the young. 61
12475772 2002
35
Pancreatic Duodenal Homeobox (PDX-1) in health and disease. 61
12503852 2002
36
Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A. 61
12203996 2002
37
Foxa2 controls Pdx1 gene expression in pancreatic beta-cells in vivo. 61
12145169 2002
38
[Insulin-dependent neonatal and infant diabetes: genetics and physiopathology]. 61
12085668 2002
39
Pancreas duodenum homeobox-1 regulates pancreas development during embryogenesis and islet cell function in adulthood. 61
11834421 2002
40
Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus. 61
11772903 2002
41
Pancreatic duodenal homeobox-1, PDX-1, a major regulator of beta cell identity and function. 61
11692168 2001
42
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. 61
11590126 2001
43
[Diabetes mellitus]. 61
11307309 2001
44
Functional consequences of mutations in the MODY4 gene (IPF1) and coexistence with MODY3 mutations. 61
11270685 2001
45
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. 61
11058894 2000
46
Molecular and genetic bases for maturity onset diabetes of youth. 61
10943822 2000
47
Molecular and biochemical analysis of the MODY syndromes. 61
15016234 2000
48
[Molecular background and clinical characteristics of autosomal dominant type 2 diabetes mellitus]. 61
11293229 2000
49
Monogenic diabetes mellitus in youth. The MODY syndromes. 61
10609119 1999
50
Identification of a nuclear localization signal, RRMKWKK, in the homeodomain transcription factor PDX-1. 61
10567702 1999

Variations for Maturity-Onset Diabetes of the Young, Type 4

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 4:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDX1 PDX1, 1-BP DEL, 188C Deletion Pathogenic 8857 GRCh37:
GRCh38:
2 PDX1 NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) SNV Pathogenic 30124 rs387906777 GRCh37: 13:28498519-28498519
GRCh38: 13:27924382-27924382
3 PDX1 NM_000209.4(PDX1):c.188del (p.Pro63fs) Deletion Pathogenic 21124 rs193929377 GRCh37: 13:28494458-28494458
GRCh38: 13:27920321-27920321
4 PDX1 NM_000209.4(PDX1):c.188del (p.Pro63fs) Deletion Pathogenic 21124 rs193929377 GRCh37: 13:28494458-28494458
GRCh38: 13:27920321-27920321
5 PDX1 NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) SNV Likely pathogenic 36407 rs193922355 GRCh37: 13:28498428-28498428
GRCh38: 13:27924291-27924291
6 PDX1 NM_000209.4(PDX1):c.502A>C (p.Asn168His) SNV Likely pathogenic 436282 rs1555241857 GRCh37: 13:28498488-28498488
GRCh38: 13:27924351-27924351
7 PDX1 NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) SNV Likely pathogenic 36409 rs193922356 GRCh37: 13:28498557-28498557
GRCh38: 13:27924420-27924420
8 PDX1 NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) SNV Likely pathogenic 36413 rs193922360 GRCh37: 13:28498759-28498759
GRCh38: 13:27924622-27924622
9 PDX1 NM_000209.4(PDX1):c.-18C>T SNV Uncertain significance 36402 rs193922351 GRCh37: 13:28494258-28494258
GRCh38: 13:27920121-27920121
10 PDX1 NM_000209.4(PDX1):c.-50_-44CTCCCGG[5] Microsatellite Uncertain significance 36403 rs193922352 GRCh37: 13:28494225-28494226
GRCh38: 13:27920088-27920089
11 PDX1 NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) SNV Uncertain significance 36414 rs192902098 GRCh37: 13:28494372-28494372
GRCh38: 13:27920235-27920235
12 PDX1 NM_000209.4(PDX1):c.543C>T (p.Val181=) SNV Likely benign 36408 rs75498935 GRCh37: 13:28498529-28498529
GRCh38: 13:27924392-27924392
13 PDX1 NM_000209.4(PDX1):c.318G>T (p.Pro106=) SNV Likely benign 36406 rs193922354 GRCh37: 13:28494593-28494593
GRCh38: 13:27920456-27920456
14 PDX1 NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) SNV Likely benign 129881 rs199644078 GRCh37: 13:28498702-28498702
GRCh38: 13:27924565-27924565
15 PDX1 NM_000209.4(PDX1):c.162G>A (p.Leu54=) SNV Likely benign 36404 rs28509441 GRCh37: 13:28494437-28494437
GRCh38: 13:27920300-27920300
16 PDX1 NM_000209.4(PDX1):c.714_716GCC[6] (p.Pro244dup) Microsatellite Benign 36412 rs193922357 GRCh37: 13:28498712-28498714
GRCh38: 13:27924562-27924563
17 PDX1 NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) SNV Benign 8863 rs137852787 GRCh37: 13:28498656-28498656
GRCh38: 13:27924519-27924519
18 PDX1 NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) SNV Benign 8859 rs137852783 GRCh37: 13:28494501-28494501
GRCh38: 13:27920364-27920364
19 PDX1 NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) SNV Benign 36411 rs193922358 GRCh37: 13:28498711-28498711
GRCh38: 13:27924574-27924574

Expression for Maturity-Onset Diabetes of the Young, Type 4

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 4.

Pathways for Maturity-Onset Diabetes of the Young, Type 4

Pathways related to Maturity-Onset Diabetes of the Young, Type 4 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 SLC2A2 PDX1 PAX4 NKX6-1 NEUROG3 NEUROD1
2
Show member pathways
12.68 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
3 12.37 PDX1 NKX6-1 NEUROD1 INS HNF4A HNF1A
4
Show member pathways
12.12 SLC2A2 KCNJ11 INS ABCC8
5 12.05 SLC2A2 PDX1 PAX4 NKX6-1 NEUROG3 NEUROD1
6
Show member pathways
11.95 SLC2A2 PDX1 NEUROD1 INS HNF4A HNF1B
7
Show member pathways
11.64 SLC2A2 PDX1 NEUROD1 KCNJ11 INS HNF4A
8 11.4 SLC2A2 PDX1 KCNJ11 INS HNF4A HNF1A
9
Show member pathways
11.36 SLC2A2 PDX1 PAX4 NKX6-1 NEUROG3 NEUROD1
10 10.7 SLC2A2 INS
11 10.38 HNF4A HNF1A

GO Terms for Maturity-Onset Diabetes of the Young, Type 4

Cellular components related to Maturity-Onset Diabetes of the Young, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.32 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3 NEUROD1
2 inward rectifying potassium channel GO:0008282 8.96 KCNJ11 ABCC8

Biological processes related to Maturity-Onset Diabetes of the Young, Type 4 according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.18 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3 NEUROD1
2 multicellular organism development GO:0007275 10.13 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3 NEUROD1
3 regulation of transcription by RNA polymerase II GO:0006357 10.13 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3 NEUROD1
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.12 PDX1 NKX6-1 NEUROG3 NEUROD1 HNF4A HNF1B
5 cell differentiation GO:0030154 10.11 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3 NEUROD1
6 negative regulation of transcription by RNA polymerase II GO:0000122 10.09 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3 KLF11
7 positive regulation of transcription, DNA-templated GO:0045893 10.06 PDX1 NEUROG3 NEUROD1 HNF4A HNF1B HNF1A
8 negative regulation of transcription, DNA-templated GO:0045892 10.03 PDX1 PAX4 NKX6-2 KLF11 HNF4A
9 response to drug GO:0042493 9.87 PDX1 PAX4 NKX6-1 NEUROD1 KCNJ11 HNF1B
10 animal organ morphogenesis GO:0009887 9.85 PDX1 PAX4 NKX6-1
11 response to glucose GO:0009749 9.84 PDX1 NEUROD1 HNF4A HNF1A
12 positive regulation of neuron differentiation GO:0045666 9.8 NKX6-1 NEUROG3 NEUROD1
13 liver development GO:0001889 9.8 PDX1 HNF1B HNF1A
14 glucose metabolic process GO:0006006 9.8 PDX1 KCNJ11 INS GCK
15 neurogenesis GO:0022008 9.78 NKX6-1 NEUROG3 NEUROD1
16 positive regulation of cell differentiation GO:0045597 9.78 PAX4 NEUROG3 NEUROD1 INS
17 positive regulation of insulin secretion GO:0032024 9.76 PDX1 NKX6-1 GCK BLK
18 glucose homeostasis GO:0042593 9.73 PDX1 NEUROD1 INS HNF4A HNF1A GCK
19 insulin secretion GO:0030073 9.71 PDX1 NEUROD1 HNF1B HNF1A
20 cellular glucose homeostasis GO:0001678 9.68 GCK ABCC8
21 hindbrain development GO:0030902 9.67 NEUROG3 NEUROD1
22 signal transduction involved in regulation of gene expression GO:0023019 9.67 NEUROD1 HNF4A
23 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.67 HNF1B HNF1A
24 negative regulation of gluconeogenesis GO:0045721 9.66 INS GCK
25 nitric oxide mediated signal transduction GO:0007263 9.66 PDX1 NEUROD1
26 inorganic cation transmembrane transport GO:0098662 9.65 KCNJ11 ABCC8
27 positive regulation of glycogen biosynthetic process GO:0045725 9.65 INS GCK
28 hepatocyte differentiation GO:0070365 9.64 HNF4A HNF1B
29 type B pancreatic cell development GO:0003323 9.64 NKX6-1 HNF4A
30 type B pancreatic cell differentiation GO:0003309 9.62 PDX1 NKX6-1
31 transdifferentiation GO:0060290 9.61 PDX1 NEUROG3
32 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.6 PDX1 NEUROD1
33 positive regulation of glial cell differentiation GO:0045687 9.59 NKX6-2 NKX6-1
34 negative regulation of glial cell differentiation GO:0045686 9.57 NKX6-2 NKX6-1
35 regulation of pronephros size GO:0035565 9.56 HNF1B HNF1A
36 pancreas development GO:0031016 9.55 PDX1 PAX4 NKX6-1 HNF1B HNF1A
37 detection of glucose GO:0051594 9.54 PDX1 NKX6-1 GCK
38 regulation of insulin secretion GO:0050796 9.5 SLC2A2 NKX6-1 NEUROD1 KCNJ11 HNF4A GCK
39 endocrine pancreas development GO:0031018 9.23 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3 NEUROD1

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 4 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.02 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3 NEUROD1
2 chromatin binding GO:0003682 9.85 PDX1 NKX6-1 NEUROD1 HNF4A HNF1A
3 sequence-specific double-stranded DNA binding GO:1990837 9.85 PDX1 PAX4 NKX6-2 NEUROD1 KLF11 HNF4A
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3 NEUROD1
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.8 PAX4 NKX6-2 NKX6-1 NEUROG3
6 sequence-specific DNA binding GO:0043565 9.8 PDX1 NKX6-2 NKX6-1 NEUROD1 HNF4A HNF1B
7 double-stranded DNA binding GO:0003690 9.71 PAX4 NEUROG3 NEUROD1 HNF1A
8 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 PDX1 PAX4 NKX6-2 NKX6-1 NEUROG3 NEUROD1
9 cation-transporting ATPase activity GO:0019829 9.48 KCNJ11 ABCC8
10 ATP-activated inward rectifier potassium channel activity GO:0015272 9.43 KCNJ11 ABCC8
11 DNA-binding transcription factor activity GO:0003700 9.28 PDX1 NKX6-2 NKX6-1 NEUROG3 NEUROD1 KLF11

Sources for Maturity-Onset Diabetes of the Young, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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