MODY
MCID: MTR004
MIFTS: 66

Maturity-Onset Diabetes of the Young (MODY)

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young

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

Name: Maturity-Onset Diabetes of the Young 56 12 24 52 58 15
Mody 56 12 24 52 58
Maturity Onset Diabetes Mellitus in Young 29 6 71
Maturity Onset Diabetes of the Young 74 36
Mason-Type Diabetes 56 12
Diabetes of the Young, Maturity-Onset 39
Mason Type Diabetes 52
Mody Syndrome 74

Characteristics:

Orphanet epidemiological data:

58
mody
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0050524
OMIM 56 606391
KEGG 36 H00410
ICD10 32 E11.8
ICD10 via Orphanet 33 E11.9
UMLS via Orphanet 72 C0342276
Orphanet 58 ORPHA552
MedGen 41 C0342276
UMLS 71 C0342276

Summaries for Maturity-Onset Diabetes of the Young

NIH Rare Diseases : 52 Maturity-onset diabetes of the young (MODY) is a form of diabetes that is characterized by an early onset diabetes. MODY represents about 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus . It is due to a primary defect in pancreatic ?-cell function . There are several MODY subtypes with distinct genetic causes: MODY1, caused by mutations in the HNF4A gene ; MODY2 , caused by mutations in GCK gene; MODY3 caused by mutations in the HNFA1 (the most common type); MODY4 caused by mutations in the PDX1 gene; MODY5 caused by mutations in the HNF1B gene; MODY6 caused by mutations in the NEUROD1 gene; MODY7 caused by mutations in the KLF11 gene; MODY8 caused by mutations in the CEL gene; MODY9 caused by mutations in the PAX4 gene; MODY10 caused by mutations in the INS gene; MODY11 caused by mutations in the BLK gene; MODY12 caused by mutations in the ABCC8 gene; MODY13 caused by heterozygous mutation in the KCNJ11 gene; and MODY14 caused by mutations in the APPL1 gene. It is inherited in an autosomal dominant pattern. Treatment depends on the subtype and may include sulfonylureas , insulin or diet and exercise.

MalaCards based summary : Maturity-Onset Diabetes of the Young, also known as mody, is related to maturity-onset diabetes of the young, type 1 and maturity-onset diabetes of the young, type 8, with exocrine dysfunction. An important gene associated with Maturity-Onset Diabetes of the Young is GCK (Glucokinase), and among its related pathways/superpathways are Maturity onset diabetes of the young and Type II diabetes mellitus. The drugs Metformin and Dipeptidyl-Peptidase IV Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and kidney, and related phenotypes are glycosuria and hyperglycemia

Disease Ontology : 12 A diabetes mellitus that has material basis in mutations in the MODY genes disrupting insulin production.

OMIM : 56 Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008). (606391)

KEGG : 36 Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years of age and primary insulin secretion defects. Mutations in six genes, encoding the glucose sensor enzyme glucokinase and five transcription factors that participate in a regulatory network essential for adult beta cell function, cause most of the MODY cases.

Wikipedia : 74 Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes... more...

GeneReviews: NBK500456

Related Diseases for Maturity-Onset Diabetes of the Young

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 159)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young, type 1 36.3 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
2 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 36.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
3 maturity-onset diabetes of the young, type 3 36.3 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
4 maturity-onset diabetes of the young, type 6 36.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
5 maturity-onset diabetes of the young, type 2 36.2 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
6 maturity-onset diabetes of the young, type 7 36.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
7 maturity-onset diabetes of the young, type 4 36.2 SLC2A2 PDX1 PAX4 NEUROG3 NEUROD1 KLF11
8 maturity-onset diabetes of the young, type 9 36.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
9 maturity-onset diabetes of the young, type 10 36.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 INS
10 maturity-onset diabetes of the young, type 13 36.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
11 maturity-onset diabetes of the young, type 11 36.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 BLK
12 maturity-onset diabetes of the young, type 14 36.0 PDX1 KLF11 HNF1A GCK APPL1
13 renal cysts and diabetes syndrome 35.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
14 diabetes mellitus, permanent neonatal 34.0 SLC2A2 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1
15 transient neonatal diabetes mellitus 33.9 SLC2A2 PDX1 NEUROG3 NEUROD1 KCNJ11 INS
16 diabetes mellitus, noninsulin-dependent 32.9 SLC2A2 PDX1 PAX4 NEUROG3 NEUROD1 KCNJ11
17 diabetes mellitus 32.6 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
18 hyperglycemia 32.5 SLC2A2 PDX1 PAX4 KCNJ11 INS HNF4A
19 monogenic diabetes 32.5 PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
20 hypoglycemia 32.2 SLC2A2 KCNJ11 INS GCK ABCC8
21 gestational diabetes 31.9 KCNJ11 INS HNF4A HNF1A GCK ABCC8
22 glucose intolerance 31.9 KCNJ11 INS HNF1A GCK ABCC8
23 hyperinsulinemic hypoglycemia 31.8 PDX1 KCNJ11 INS HNF4A HNF1A GCKR
24 pancreatic agenesis 31.8 PDX1 NKX2-2 NEUROG3 NEUROD1 KCNJ11 INS
25 neonatal diabetes mellitus 31.7 SLC2A2 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1
26 diabetes mellitus, ketosis-prone 31.6 PAX4 KCNJ11 INS ABCC8
27 hyperinsulinism 31.6 KCNJ11 INS HNF4A GCK ABCC8
28 body mass index quantitative trait locus 11 31.5 SLC2A2 KCNJ11 INS HNF4A HNF1A GCKR
29 diabetes mellitus, insulin-dependent 31.3 SLC2A2 PDX1 PAX4 NEUROG3 NEUROD1 INS
30 insulinoma 31.3 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1A
31 glucose metabolism disease 31.0 SLC2A2 KCNJ11 INS GCK ABCC8
32 hyperinsulinemic hypoglycemia, familial, 2 31.0 KCNJ11 INS HNF4A ABCC8
33 fanconi-bickel syndrome 31.0 SLC2A2 INS ABCC8
34 acute insulin response 30.9 KCNJ11 INS ABCC8
35 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 13.0
36 hnf1b-related autosomal dominant tubulointerstitial kidney disease 12.0
37 17q12 recurrent deletion syndrome 11.9
38 hyperinsulinemic hypoglycemia, familial, 3 11.4
39 rare diabetes mellitus type 2 10.9 SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
40 pancreatic cystadenoma 10.9 SLC2A2 PDX1 NEUROG3 NEUROD1 INS GCK
41 contractures, pterygia, and variable skeletal fusions syndrome 1a 10.8 KCNJ11 INS HNF4A HNF1B HNF1A GCK
42 endocrine pancreas disease 10.8 SLC2A2 KCNJ11 INS GCK ABCC8
43 carbohydrate metabolic disorder 10.8 SLC2A2 KCNJ11 INS GCK ABCC8
44 munchausen by proxy 10.8 KCNJ11 GCK ABCC8
45 hyperinsulinemic hypoglycemia, familial, 6 10.7 INS GCK ABCC8
46 hyperinsulinemic hypoglycemia, familial, 7 10.7 KCNJ11 GCK ABCC8
47 asphyxia neonatorum 10.7 KCNJ11 INS ABCC8
48 cardiomyopathy, dilated, 1o 10.7 SLC2A2 KCNJ11 ABCC8
49 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.7 KCNJ11 INS ABCC8
50 donohue syndrome 10.6 KCNJ11 INS GCK

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



Diseases related to Maturity-Onset Diabetes of the Young

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young

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

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glycosuria 58 31 frequent (33%) Frequent (79-30%) HP:0003076
2 hyperglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0003074
3 abnormal c-peptide level 58 31 frequent (33%) Frequent (79-30%) HP:0030794
4 hypoinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0040216
5 abnormal oral glucose tolerance 58 31 frequent (33%) Frequent (79-30%) HP:0004924
6 elevated hemoglobin a1c 58 31 frequent (33%) Frequent (79-30%) HP:0040217
7 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
8 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
9 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
10 hyperinsulinemic hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000825
11 large for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001520
12 neonatal hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001998
13 transient neonatal diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008255
14 overweight 58 31 occasional (7.5%) Occasional (29-5%) HP:0025502
15 obesity 58 31 very rare (1%) Very rare (<4-1%) HP:0001513
16 renal cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0000107
17 exocrine pancreatic insufficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0001738
18 pancreatic hypoplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0002594
19 hepatocellular adenoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012028
20 acanthosis nigricans 58 Excluded (0%)
21 glucose intolerance 58 Frequent (79-30%)
22 abnormality of the kidney 58 Very rare (<4-1%)
23 insulin-resistant diabetes mellitus 58 Occasional (29-5%)
24 abnormality of the genitourinary system 58 Very rare (<4-1%)
25 autoimmune antibody positivity 58 Excluded (0%)
26 diabetic ketoacidosis 58 Excluded (0%)
27 abnormal insulin level 58 Frequent (79-30%)

Clinical features from OMIM:

606391

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.62 SLC2A2
2 Decreased viability GR00221-A-1 10.62 GCK GCKR PKLR
3 Decreased viability GR00221-A-2 10.62 GCK PKLR
4 Decreased viability GR00221-A-3 10.62 APPL1 GCK
5 Decreased viability GR00221-A-4 10.62 APPL1 BLK GCK GCKR PKLR
6 Decreased viability GR00231-A 10.62 GCK
7 Decreased viability GR00301-A 10.62 PKLR
8 Decreased viability GR00342-S-3 10.62 PKLR
9 Decreased viability GR00381-A-1 10.62 APPL1
10 Decreased viability GR00402-S-2 10.62 ABCC8 APPL1 BLK CEL FOXA2 GCK
11 no effect GR00402-S-1 9.96 ABCC8 APPL1 BLK CEL FOXA2 GCK
12 Decreased free cholesterol GR00340-A-2 9.43 GCKR HNF1A HNF4A
13 shRNA abundance <= 50% GR00343-S 9.32 BLK CEL GCK HNF1A HNF4A KCNJ11

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

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.38 ABCC8 APPL1 CEL FOXA2 GCK GCKR
2 growth/size/body region MP:0005378 10.31 APPL1 CEL FOXA2 GCK HNF1A HNF1B
3 endocrine/exocrine gland MP:0005379 10.3 ABCC8 BLK FOXA2 GCK HNF1A HNF1B
4 cellular MP:0005384 10.24 APPL1 FOXA2 GCK HNF1A HNF4A INS
5 mortality/aging MP:0010768 10.2 APPL1 FOXA2 GCK HNF1A HNF1B HNF4A
6 adipose tissue MP:0005375 10.05 APPL1 CEL FOXA2 HNF1A INS KCNJ11
7 digestive/alimentary MP:0005381 10.02 CEL FOXA2 HNF1A INS NEUROD1 NEUROG3
8 liver/biliary system MP:0005370 10.02 CEL FOXA2 GCK HNF1A HNF1B HNF4A
9 muscle MP:0005369 9.8 APPL1 HNF1A HNF1B INS KCNJ11 PDX1
10 no phenotypic analysis MP:0003012 9.7 ABCC8 APPL1 HNF1A INS KCNJ11 NEUROG3
11 normal MP:0002873 9.65 BLK FOXA2 HNF4A INS KLF11 NEUROG3
12 renal/urinary system MP:0005367 9.17 GCK HNF1A HNF1B INS NEUROD1 NEUROG3

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young

Drugs for Maturity-Onset Diabetes of the Young (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2 Dipeptidyl-Peptidase IV Inhibitors Phase 4
3 Sitagliptin Phosphate Phase 4
4
Glimepiride Approved Phase 2, Phase 3 93479-97-1 3476
5
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
6 Immunologic Factors Phase 2, Phase 3
7 Immunosuppressive Agents Phase 2, Phase 3
8
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
9
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
10
Dextromethorphan Approved Phase 2 125-71-3 5360696 5362449
11
Amantadine Approved Phase 2 768-94-5 2130
12 Analgesics Phase 2
13 Neurotransmitter Agents Phase 2
14 Respiratory System Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Dopamine Agents Phase 2
17 Analgesics, Non-Narcotic Phase 2
18 Antitussive Agents Phase 2
19 Antiparkinson Agents Phase 2
20 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
21 Antiviral Agents Phase 2
22 Excitatory Amino Acid Antagonists Phase 2
23 Excitatory Amino Acids Phase 2
24
Zinc Approved, Investigational Phase 1 7440-66-6 32051
25
tannic acid Approved Phase 1 1401-55-4
26
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
27
Somatostatin Approved, Investigational Phase 1 51110-01-1, 38916-34-6 53481605
28 Anesthetics, Local Phase 1
29 Anesthetics Phase 1
30 Central Nervous System Depressants Phase 1
31
Pancrelipase Approved, Investigational 53608-75-6
32
carbamide peroxide Approved 124-43-6
33
Glucagon Approved 16941-32-5
34
Insulin glargine Approved 160337-95-1
35
Insulin lispro Approved 133107-64-9
36
Insulin aspart Approved 116094-23-6 16132418
37
Insulin detemir Approved 169148-63-4 5311023
38
Gliclazide Approved 21187-98-4 3475
39
Adenosine Approved, Investigational 58-61-7 60961
40
gastric inhibitory polypeptide Investigational 100040-31-1
41 pancreatin
42 HIV Protease Inhibitors
43
protease inhibitors
44 Incretins
45 Gastrointestinal Agents
46 Hormone Antagonists
47 Antibodies
48 Immunoglobulins
49 Glucagon-Like Peptide 1
50 Isophane Insulin, Human

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Phenotypic and Genetic Correlates of Diabetes (Non-Type 1) in Young Non-Obese Asian Indians in North India and A Study to Evaluate the Efficacy of Sitagliptin (DPP-4 Inhibitor) in a Sub-group of the Study Population Completed NCT00964184 Phase 4 Metformin
2 Phase 2 Study: A Double-blind, Randomised, Clinical Cross-over Trial to Investigate the Treatment Potential of Liraglutide Compared to Glimepiride in MODY Patients Completed NCT01610934 Phase 2, Phase 3 liraglutide;Glimepiride
3 A Phase IIa, Double-blind, Placebo-controlled, Randomised, Fourfold Crossover Study to Investigate the Glucose Lowering Effects of Dextromethorphan and Amantadine in Subjects With Type 2 Diabetes Mellitus (T2DM) After an Oral Glucose Tolerance Test Completed NCT01441986 Phase 2 Dextromethorphan hydrobromide;Amantadine;Pacebo 1 (placebo for Amantadine);Placebo 2 (fo Dextromethorphan)
4 A Novel Cross-sectional Analysis of Insulin Sensitivity Among Adolescents and Young Adults With Type 1 Diabetes, MODY2, and Normal Controls: the Contribution of Hyperinsulinemia vs. Hyperglycemia to Insulin Resistance Completed NCT02971202 Phase 1 Hyperinsulinemic, euglycemic clamp;20% dextrose
5 The Effect of ß-cell Specific Glucokinase Mutation on Glucose Homeostasis and Insulin Secretion in a MODY-2 Family Unknown status NCT01960231
6 Postprandial Secretion of of Incretin Hormones and Incretin Effect in Patients With Maturity-onset Diabetes of the Young (MODY) Completed NCT01342939
7 Constitution of a Cohort of Families With Monogenic Diabetes to Identify Novel Causes of Non Auto-immune Diabetes Mellitus in Children and Young Adults Completed NCT02634229
8 The Effect of GIP and GLP-1 on Insulin and Glucagon Secretion in Patients With HNF1A-diabetes Treated With or Without Sulphonylurea Completed NCT03081676 Glimepiride 1Mg Tablet;Glucagon-like Peptide-1;Glucose-Dependent Insulinotropic Polypeptide;Placebo Oral Tablet;Placebo infusion
9 Patient Experiences With Injection Needles Completed NCT02531776
10 Using Pharmacogenetics to Improve Treatment in Early-onset Diabetes Completed NCT01238380
11 A Cross-sectional Study of Young-onset Diabetes in Two UK Ethnic Groups. Recruiting NCT02082132
12 Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB) Recruiting NCT04021199
13 Impact of Two Standardized Clinical Care Protocols on Pregnancy Outcomes in Women With Monogenic Diabetes MODY2 Recruiting NCT02556840
14 Genetic Causes of Gestational Diabetes in the Emirati Population Recruiting NCT03589092
15 Investigating Glucagon Secretion in HNF1-alpha and HNF4-alpha MODY Recruiting NCT03246828
16 Application of UCPCR as a Testing Tool for Identification of MODY Patients in the UAE Active, not recruiting NCT03607604
17 A Long Term Follow up of a Cohort of Children With TCF2 Mutation:Evolution of Endocrine and Renal Function Active, not recruiting NCT00760331
18 Randomized Trial to Compare Surgical and Medical Treatments for Type 2 Diabetes (Triabetes) - Alliance of Randomized Trials of Medicine vs. Metabolic Surgery in Type 2 Diabetes ARMMST2D) Active, not recruiting NCT01047735
19 Individually Tailored Treatment of Type 2 Diabetes Enrolling by invitation NCT02015130
20 Human Leucocytic Antigen Typing and Mutation of Adenosine Triphosphate Sensitive Potassium Channel Gene in Diabetic Patients Diagnosed Under the Age of One Year. Not yet recruiting NCT03169413
21 Metabolic Characteristics of Lean Diabetes in Rural and Semi-urban India and in the United States Not yet recruiting NCT02987335 Pancreatic Clamp
22 Precision Medicine to Redefine Insulin Secretion and Monogenic Diabetes (PRISM) in Chinese Patients With Young Onset Diabetes Not yet recruiting NCT04049149
23 Effect of a Multimodal Infection Control Program on the Reduction of Bacterial Contamination on Nasogastric Tube Feeding for Elderly Persons in Residential Care Home Not yet recruiting NCT04075344
24 The StartRIGHT Pilot Study; Getting the Right Classification and Treatment From Diagnosis in Adults With Diabetes Terminated NCT02287506
25 Study Aiming to Collect Skin Samples of Diabetic Patients and Healthy Volunteers for Cellular Reprogramming, Within the Framework of New Therapeutic Strategies in Diabetes Treatment Terminated NCT01349374

Search NIH Clinical Center for Maturity-Onset Diabetes of the Young

Genetic Tests for Maturity-Onset Diabetes of the Young

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

# Genetic test Affiliating Genes
1 Maturity Onset Diabetes Mellitus in Young 29

Anatomical Context for Maturity-Onset Diabetes of the Young

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

40
Testes, Liver, Kidney, Pancreas, Thyroid, Pancreatic Islet, Heart

Publications for Maturity-Onset Diabetes of the Young

Articles related to Maturity-Onset Diabetes of the Young:

(show top 50) (show all 1685)
# Title Authors PMID Year
1
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 61 24 56 6
11575290 2001
2
Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY. 61 56 6
9313765 1997
3
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. 61 24 6
26073777 2015
4
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. 61 24 6
22701567 2012
5
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. 61 24 6
20621032 2010
6
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. 61 24 6
19564454 2009
7
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. 61 24 6
19667185 2009
8
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients. 61 24 6
18248649 2008
9
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. 61 24 6
18162506 2008
10
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. 61 24 6
18192540 2008
11
PAX4 mutations in Thais with maturity onset diabetes of the young. 61 24 6
17426099 2007
12
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 61 24 6
17407387 2007
13
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. 61 24 6
16369531 2006
14
Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients. 61 24 56
15657605 2005
15
Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. 61 24 6
8433729 1993
16
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. 24 6
15774581 2005
17
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. 24 6
10545951 1999
18
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. 24 6
9326926 1997
19
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. 24 6
8506821 1993
20
Maturity-Onset Diabetes of the Young Overview 61 6
29792621 2018
21
Pancreatitis Overview 61 6
24624459 2014
22
Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database. 61 6
21224407 2011
23
Insight into the biochemical characteristics of a novel glucokinase gene mutation. 61 6
21104275 2011
24
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. 61 6
20337973 2010
25
Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. 61 6
18811724 2009
26
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. 61 6
18399931 2008
27
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. 61 56
18436708 2008
28
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. 61 6
18003757 2008
29
Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations. 61 6
18271687 2008
30
Six novel mutations in the GCK gene in MODY patients. 61 6
17204055 2007
31
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 61 6
16965331 2006
32
Glucokinase mutations in young children with hyperglycemia. 61 6
16444761 2006
33
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. 61 6
16917892 2006
34
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. 61 6
16731834 2006
35
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. 61 6
15784703 2005
36
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 61 6
15649945 2005
37
Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). 61 6
15305805 2004
38
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. 61 6
15031772 2004
39
Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family. 61 6
14764823 2004
40
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. 61 6
14517946 2003
41
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). 61 6
14517956 2003
42
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. 61 6
12955723 2003
43
Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. 61 6
12627330 2003
44
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. 61 6
12574234 2003
45
GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). 61 6
12442280 2002
46
Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. 61 6
12453976 2002
47
Bi-allelic inactivation of TCF1 in hepatic adenomas. 61 6
12355088 2002
48
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. 61 6
12050210 2002
49
Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: prevalence and functional analysis. 61 6
12107757 2002
50
Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes. 61 6
11938027 2002

Variations for Maturity-Onset Diabetes of the Young

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

6 (show top 50) (show all 436) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF1A NM_000545.6(HNF1A):c.1137del (p.Val380fs)deletion Pathogenic 435426 rs1555212248 12:121434373-121434373 12:120996570-120996570
2 GCK NM_000162.5(GCK):c.645C>A (p.Tyr215Ter)SNV Pathogenic/Likely pathogenic 453007 rs144723656 7:44189393-44189393 7:44149794-44149794
3 GCK NM_000162.5(GCK):c.106C>T (p.Arg36Trp)SNV Pathogenic/Likely pathogenic 431973 rs762263694 7:44193002-44193002 7:44153403-44153403
4 GCK NM_000162.5(GCK):c.676G>A (p.Val226Met)SNV Pathogenic/Likely pathogenic 36243 rs148311934 7:44189362-44189362 7:44149763-44149763
5 GCK NM_000162.5(GCK):c.787T>C (p.Ser263Pro)SNV Likely pathogenic 36258 rs193922331 7:44187325-44187325 7:44147726-44147726
6 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)SNV drug response 8678 rs5219 11:17409572-17409572 11:17388025-17388025
7 PDX1 NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)SNV Conflicting interpretations of pathogenicity 8859 rs137852783 13:28494501-28494501 13:27920364-27920364
8 BLK NM_001715.3(BLK):c.211G>A (p.Ala71Thr)SNV Conflicting interpretations of pathogenicity 12319 rs55758736 8:11405576-11405576 8:11548067-11548067
9 BLK NM_001715.3(BLK):c.713G>A (p.Arg238Gln)SNV Conflicting interpretations of pathogenicity 210528 rs141865425 8:11412934-11412934 8:11555425-11555425
10 HNF4A NM_000457.4(HNF4A):c.1309C>T (p.Pro437Ser)SNV Conflicting interpretations of pathogenicity 211145 rs150776703 20:43058189-43058189 20:44429549-44429549
11 HNF4A NM_000457.4(HNF4A):c.150G>A (p.Ala50=)SNV Conflicting interpretations of pathogenicity 36347 rs41282026 20:43034732-43034732 20:44406092-44406092
12 GCK NM_000162.5(GCK):c.208+11G>ASNV Conflicting interpretations of pathogenicity 36206 rs77440690 7:44192889-44192889 7:44153290-44153290
13 GCK NM_000162.5(GCK):c.46-12C>TSNV Conflicting interpretations of pathogenicity 36222 rs142829768 7:44193074-44193074 7:44153475-44153475
14 HNF4A NM_000457.4(HNF4A):c.505G>A (p.Val169Ile)SNV Conflicting interpretations of pathogenicity 36353 rs142204928 20:43043159-43043159 20:44414519-44414519
15 HNF1A NM_000545.6(HNF1A):c.1310-12C>TSNV Conflicting interpretations of pathogenicity 36799 rs193922579 12:121435265-121435265 12:120997462-120997462
16 HNF1A NM_000545.6(HNF1A):c.1539C>T (p.Thr513=)SNV Conflicting interpretations of pathogenicity 36805 rs193922584 12:121437108-121437108 12:120999305-120999305
17 NEUROD1 NM_002500.4(NEUROD1):c.777C>T (p.Ser259=)SNV Conflicting interpretations of pathogenicity 258771 rs115027760 2:182542811-182542811 2:181678084-181678084
18 PAX4 NM_001366110.1(PAX4):c.1014C>T (p.Ala338=)SNV Conflicting interpretations of pathogenicity 358796 rs201607054 7:127251160-127251160 7:127611106-127611106
19 BLK NM_001715.3(BLK):c.974A>C (p.Lys325Thr)SNV Conflicting interpretations of pathogenicity 361489 rs77401687 8:11415492-11415492 8:11557983-11557983
20 PAX4 NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys)SNV Conflicting interpretations of pathogenicity 358806 rs144792551 7:127254981-127254981 7:127614927-127614927
21 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.-498T>CSNV Conflicting interpretations of pathogenicity 303742 rs529946415 11:17410136-17410136 11:17388589-17388589
22 INS , TH NM_000360.4(TH):c.*277G>ASNV Conflicting interpretations of pathogenicity 304062 rs3842725 11:2185186-2185186 11:2163956-2163956
23 HNF4A NM_000457.4(HNF4A):c.290+17dupduplication Conflicting interpretations of pathogenicity 338425 rs371937621 20:43034886-43034887 20:44406246-44406247
24 HNF1A NM_000545.6(HNF1A):c.1015G>A (p.Gly339Ser)SNV Conflicting interpretations of pathogenicity 307461 rs766790596 12:121434124-121434124 12:120996321-120996321
25 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.-154G>TSNV Conflicting interpretations of pathogenicity 303740 rs539975714 11:17409792-17409792 11:17388245-17388245
26 KCNJ11 NM_000525.3(KCNJ11):c.354G>A (p.Ser118=)SNV Conflicting interpretations of pathogenicity 303738 rs140636367 11:17409285-17409285 11:17387738-17387738
27 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.-559G>CSNV Conflicting interpretations of pathogenicity 303745 rs547932593 11:17410197-17410197 11:17388650-17388650
28 HNF1A NM_000545.6(HNF1A):c.336G>A (p.Pro112=)SNV Conflicting interpretations of pathogenicity 307459 rs371365341 12:121426645-121426645 12:120988842-120988842
29 HNF4A NM_000457.4(HNF4A):c.792G>A (p.Val264=)SNV Conflicting interpretations of pathogenicity 338427 rs145280017 20:43048416-43048416 20:44419776-44419776
30 HNF4A NM_000457.4(HNF4A):c.1242C>T (p.Asn414=)SNV Conflicting interpretations of pathogenicity 338428 rs141448616 20:43057087-43057087 20:44428447-44428447
31 HNF4A NM_000457.4(HNF4A):c.1282+6C>ASNV Uncertain significance 338429 rs778818487 20:43057133-43057133 20:44428493-44428493
32 HNF4A NM_000457.4(HNF4A):c.*226C>ASNV Uncertain significance 338435 rs886056680 20:43058531-43058531 20:44429891-44429891
33 HNF4A NM_000457.4(HNF4A):c.*271C>TSNV Uncertain significance 338437 rs11574745 20:43058576-43058576 20:44429936-44429936
34 HNF4A NM_000457.4(HNF4A):c.*521G>ASNV Uncertain significance 338443 rs111466682 20:43058826-43058826 20:44430186-44430186
35 HNF4A NM_000457.4(HNF4A):c.*782G>ASNV Uncertain significance 338447 rs886056682 20:43059087-43059087 20:44430447-44430447
36 HNF4A NM_000457.4(HNF4A):c.*977C>GSNV Uncertain significance 338451 rs367907885 20:43059282-43059282 20:44430642-44430642
37 HNF4A NM_000457.4(HNF4A):c.*1078G>ASNV Uncertain significance 338453 rs573432571 20:43059383-43059383 20:44430743-44430743
38 HNF4A NM_000457.4(HNF4A):c.*1095G>ASNV Uncertain significance 338456 rs192208246 20:43059400-43059400 20:44430760-44430760
39 HNF4A NM_000457.4(HNF4A):c.*1783G>TSNV Uncertain significance 338461 rs564110189 20:43060088-43060088 20:44431448-44431448
40 HNF4A NM_000457.4(HNF4A):c.*2639T>GSNV Uncertain significance 338474 rs886056690 20:43060944-43060944 20:44432304-44432304
41 HNF4A NM_000457.4(HNF4A):c.*2676dupduplication Uncertain significance 338476 rs886056692 20:43060980-43060981 20:44432340-44432341
42 HNF4A NM_000457.4(HNF4A):c.*2677dupduplication Uncertain significance 338478 rs886056694 20:43060981-43060982 20:44432341-44432342
43 HNF4A NM_000457.4(HNF4A):c.*2992C>TSNV Uncertain significance 338489 rs770250175 20:43061297-43061297 20:44432657-44432657
44 HNF4A NM_000457.4(HNF4A):c.*3086C>TSNV Uncertain significance 338494 rs551080524 20:43061391-43061391 20:44432751-44432751
45 HNF1A NM_000545.6(HNF1A):c.693G>A (p.Thr231=)SNV Uncertain significance 307460 rs145240086 12:121431489-121431489 12:120993686-120993686
46 HNF4A NM_000457.4(HNF4A):c.*987G>TSNV Uncertain significance 338452 rs886056684 20:43059292-43059292 20:44430652-44430652
47 HNF4A NM_000457.4(HNF4A):c.*1089deldeletion Uncertain significance 338454 rs749515492 20:43059392-43059392 20:44430752-44430752
48 HNF4A NM_000457.4(HNF4A):c.*1616G>ASNV Uncertain significance 338460 rs886056685 20:43059921-43059921 20:44431281-44431281
49 HNF4A NM_000457.4(HNF4A):c.*2153T>CSNV Uncertain significance 338465 rs760628227 20:43060458-43060458 20:44431818-44431818
50 HNF4A NM_000457.4(HNF4A):c.*2182G>ASNV Uncertain significance 338467 rs138556808 20:43060487-43060487 20:44431847-44431847

Expression for Maturity-Onset Diabetes of the Young

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

Pathways for Maturity-Onset Diabetes of the Young

Pathways related to Maturity-Onset Diabetes of the Young according to KEGG:

36
# Name Kegg Source Accession
1 Maturity onset diabetes of the young hsa04950
2 Type II diabetes mellitus hsa04930
3 Insulin signaling pathway hsa04910

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 SLC2A2 PKLR PDX1 PAX4 NKX2-2 NEUROG3
2
Show member pathways
12.72 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
3 12.44 PDX1 NEUROD1 INS HNF4A HNF1A GCKR
4
Show member pathways
12.19 SLC2A2 PKLR KCNJ11 INS ABCC8
5 12.1 SLC2A2 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1
6
Show member pathways
12 SLC2A2 PDX1 NEUROD1 INS HNF4A HNF1B
7
Show member pathways
11.69 SLC2A2 GCKR GCK
8
Show member pathways
11.68 SLC2A2 PKLR PDX1 NEUROD1 KCNJ11 INS
9 11.5 SLC2A2 PKLR PDX1 KCNJ11 INS HNF4A
10
Show member pathways
11.44 SLC2A2 PKLR PDX1 PAX4 NKX2-2 NEUROG3
11 11.11 NKX2-2 NEUROD1 FOXA2
12 10.73 SLC2A2 INS
13 10.4 HNF4A HNF1A

GO Terms for Maturity-Onset Diabetes of the Young

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.32 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 KLF11
2 inward rectifying potassium channel GO:0008282 8.96 KCNJ11 ABCC8

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.18 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 INS
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.17 PDX1 NKX2-2 NEUROG3 NEUROD1 HNF4A HNF1B
3 regulation of transcription by RNA polymerase II GO:0006357 10.12 PDX1 PAX4 KLF11 HNF4A HNF1B HNF1A
4 positive regulation of transcription, DNA-templated GO:0045893 10.08 PDX1 NEUROD1 HNF4A HNF1B HNF1A FOXA2
5 cell differentiation GO:0030154 10.08 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 HNF4A
6 carbohydrate metabolic process GO:0005975 9.91 SLC2A2 PKLR INS GCKR GCK
7 response to drug GO:0042493 9.91 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
8 response to organic cyclic compound GO:0014070 9.85 PDX1 NKX2-2 HNF1B
9 positive regulation of DNA-binding transcription factor activity GO:0051091 9.83 NKX2-2 NEUROG3 NEUROD1
10 positive regulation of neuron differentiation GO:0045666 9.82 NKX2-2 NEUROG3 NEUROD1
11 liver development GO:0001889 9.8 PDX1 HNF1B HNF1A
12 positive regulation of insulin secretion GO:0032024 9.77 PDX1 GCK BLK
13 glucose metabolic process GO:0006006 9.76 PDX1 KCNJ11 INS GCK
14 regulation of insulin secretion GO:0050796 9.73 SLC2A2 NEUROD1 KCNJ11 HNF4A GCK ABCC8
15 positive regulation of cell differentiation GO:0045597 9.72 PAX4 NKX2-2 NEUROG3 NEUROD1 INS
16 insulin secretion GO:0030073 9.71 PDX1 NEUROD1 HNF1B HNF1A
17 glucose homeostasis GO:0042593 9.7 PDX1 NEUROD1 INS HNF4A HNF1A GCKR
18 signal transduction involved in regulation of gene expression GO:0023019 9.67 NEUROD1 HNF4A
19 nitric oxide mediated signal transduction GO:0007263 9.67 PDX1 NEUROD1
20 hindbrain development GO:0030902 9.67 NEUROG3 NEUROD1 HNF1B
21 pancreas development GO:0031016 9.67 PDX1 PAX4 HNF1B HNF1A
22 regulation of protein localization to plasma membrane GO:1903076 9.66 INS APPL1
23 negative regulation of gluconeogenesis GO:0045721 9.66 INS GCK
24 response to ATP GO:0033198 9.65 PKLR KCNJ11
25 positive regulation of glycogen biosynthetic process GO:0045725 9.65 INS GCK
26 hepatocyte differentiation GO:0070365 9.64 HNF4A HNF1B
27 type B pancreatic cell development GO:0003323 9.63 NKX2-2 HNF4A
28 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.62 HNF1B HNF1A
29 transdifferentiation GO:0060290 9.62 PDX1 NEUROG3
30 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.61 PDX1 NEUROD1
31 negative regulation of glucokinase activity GO:0033132 9.61 GCKR FOXA2
32 detection of glucose GO:0051594 9.58 PDX1 GCK
33 regulation of pronephros size GO:0035565 9.56 HNF1B HNF1A
34 pancreatic PP cell fate commitment GO:0003329 9.55 NKX2-2 NEUROD1
35 pancreatic A cell fate commitment GO:0003326 9.54 NKX2-2 NEUROD1
36 response to glucose GO:0009749 9.5 PKLR PDX1 NKX2-2 NEUROD1 HNF4A HNF1B
37 endocrine pancreas development GO:0031018 9.17 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 HNF1A

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.07 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 KLF11
2 chromatin binding GO:0003682 9.85 PDX1 NKX2-2 NEUROD1 HNF4A HNF1A
3 transcription factor binding GO:0008134 9.83 PDX1 NKX2-2 NEUROD1 HNF1A FOXA2
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 PDX1 NKX2-2 NEUROG3 NEUROD1 HNF4A HNF1A
5 sequence-specific DNA binding GO:0043565 9.76 PDX1 PAX4 NKX2-2 NEUROD1 HNF4A HNF1B
6 transcription regulatory region DNA binding GO:0044212 9.72 KLF11 HNF4A HNF1B HNF1A FOXA2
7 double-stranded DNA binding GO:0003690 9.71 PAX4 NEUROG3 NEUROD1 HNF1A
8 DNA-binding transcription factor activity GO:0003700 9.61 PDX1 NKX2-2 NEUROG3 NEUROD1 KLF11 HNF4A
9 potassium ion binding GO:0030955 9.48 PKLR KCNJ11
10 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.32 PDX1 PAX4 NKX2-2 NEUROG3 NEUROD1 KLF11

Sources for Maturity-Onset Diabetes of the Young

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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