MCID: MTR004
MIFTS: 60

Maturity-Onset Diabetes of the Young

Categories: Rare diseases, Endocrine diseases, Genetic diseases, Liver diseases, Neuronal 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 57 12 24 53 59 15
Mody 57 12 24 53 59
Maturity Onset Diabetes Mellitus in Young 29 6 73
Maturity Onset Diabetes of the Young 76 37
Mason-Type Diabetes 57 12
Mason Type Diabetes 53
Mody Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
mody
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 606391
Disease Ontology 12 DOID:0050524
ICD10 33 E11.8
Orphanet 59 ORPHA552
ICD10 via Orphanet 34 E11.9
UMLS via Orphanet 74 C0342276
MedGen 42 C0342276
KEGG 37 H00410
UMLS 73 C0342276

Summaries for Maturity-Onset Diabetes of the Young

NIH Rare Diseases : 53 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 β-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 2 and maturity-onset diabetes of the young, type 3. An important gene associated with Maturity-Onset Diabetes of the Young is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways/superpathways are Maturity onset diabetes of the young and Type II diabetes mellitus. The drugs Metformin and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and lung, and related phenotypes are Decreased viability and Decreased viability

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

OMIM : 57 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)

Wikipedia : 76 \"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 72)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young, type 2 35.8 GCK INS
2 maturity-onset diabetes of the young, type 3 35.8 HNF1A INS
3 maturity-onset diabetes of the young, type 6 35.7 HNF1A NEUROD1
4 renal cysts and diabetes syndrome 35.0 HNF1B HNF4A
5 diabetes mellitus, transient neonatal, 1 32.9 ABCC8 INS KCNJ11
6 diabetes mellitus, permanent neonatal 32.8 ABCC8 GCK INS KCNJ11 PDX1
7 hypoglycemia 31.6 ABCC8 GCK INS KCNJ11
8 hyperinsulinemic hypoglycemia 31.3 ABCC8 GCK HNF4A INS KCNJ11
9 hyperinsulinism 31.1 ABCC8 GCK HNF4A INS KCNJ11
10 gestational diabetes 31.1 GCK HNF1A HNF4A INS KCNJ11
11 hyperglycemia 30.8 ABCC8 GCK HNF1A INS KCNJ11 PDX1
12 diabetes mellitus 30.8 ABCC8 GCK HNF1A HNF1B HNF4A INS
13 diabetes mellitus, noninsulin-dependent 30.0 ABCC8 GCK GCKR HNF1A HNF1B HNF4A
14 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 12.9
15 maturity-onset diabetes of the young, type 9 12.9
16 maturity-onset diabetes of the young, type 1 12.9
17 maturity-onset diabetes of the young, type 10 12.9
18 maturity-onset diabetes of the young, type 13 12.8
19 maturity-onset diabetes of the young, type 7 12.8
20 maturity-onset diabetes of the young, type 4 12.8
21 maturity-onset diabetes of the young, type 11 12.8
22 maturity-onset diabetes of the young, type 14 12.7
23 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 12.7
24 17q12 deletion syndrome 11.1
25 hyperinsulinism due to glucokinase deficiency 11.1
26 munchausen by proxy 10.9 ABCC8 GCK KCNJ11
27 factitious disorder 10.9 ABCC8 GCK INS KCNJ11
28 hyperinsulinemic hypoglycemia, familial, 2 10.9 ABCC8 HNF4A INS KCNJ11
29 acute insulin response 10.9 ABCC8 INS KCNJ11
30 pancreas disease 10.8 ABCC8 INS KCNJ11
31 fanconi-bickel syndrome 10.8 ABCC8 INS SLC2A2
32 endocrine pancreas disease 10.8 ABCC8 GCK INS KCNJ11
33 acquired metabolic disease 10.8 GCK INS KCNJ11 SLC2A2
34 cardiomyopathy, dilated, 1o 10.8 ABCC8 KCNJ11
35 type 1 diabetes mellitus 7 10.8 INS NEUROD1
36 pancreatic agenesis 10.8 ABCC8 GCK INS KCNJ11 PDX1
37 diarrhea 4, malabsorptive, congenital 10.8 NEUROD1 NEUROG3
38 diabetes mellitus, insulin-dependent 10.7 GCK HNF1A INS NEUROD1 PAX4 PDX1
39 insulinoma 10.7 ABCC8 GCK INS PDX1 SLC2A2
40 glucose metabolism disease 10.7 ABCC8 GCK INS KCNJ11 SLC2A2
41 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.6 ABCC8 KCNJ11
42 type 1 diabetes mellitus 11 10.6 HNF1A INS
43 monogenic diabetes 10.4 ABCC8 CEL GCK HNF1A HNF4A INS
44 intestinal atresia 10.4 GCK PDX1
45 pancreatitis 10.3
46 neonatal diabetes mellitus 10.3 ABCC8 GCK HNF1B INS KCNJ11 KLF11
47 hepatitis 10.2
48 aging 10.1
49 duodenitis 10.1
50 cystic kidney disease 10.0

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

Clinical features from OMIM:

606391

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.98 GCK GCKR PKLR
2 Decreased viability GR00221-A-2 9.98 GCK PKLR
3 Decreased viability GR00221-A-3 9.98 APPL1 GCK
4 Decreased viability GR00221-A-4 9.98 APPL1 BLK GCK GCKR PKLR
5 Decreased viability GR00231-A 9.98 GCK
6 Decreased viability GR00301-A 9.98 PKLR
7 Decreased viability GR00342-S-3 9.98 PKLR
8 Decreased viability GR00381-A-1 9.98 APPL1
9 Decreased viability GR00402-S-2 9.98 APPL1 BLK GCK GCKR PKLR
10 Decreased free cholesterol GR00340-A-2 9.33 HNF4A GCKR HNF1A
11 shRNA abundance <= 50% GR00343-S 9.32 BLK CEL GCK HNF1A HNF4A KCNJ11

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

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 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 HNF1B INS KCNJ11 NEUROD1 NEUROG3 NKX2-2
4 mortality/aging MP:0010768 10.2 NEUROG3 NKX2-2 PAX4 PDX1 PKLR SLC2A2
5 adipose tissue MP:0005375 10.04 APPL1 CEL FOXA2 HNF1A INS KCNJ11
6 digestive/alimentary MP:0005381 10.02 CEL FOXA2 HNF1A INS NEUROD1 NEUROG3
7 liver/biliary system MP:0005370 10.02 PDX1 SLC2A2 CEL FOXA2 GCK HNF1A
8 muscle MP:0005369 9.8 INS KCNJ11 PDX1 SLC2A2 APPL1 HNF1A
9 no phenotypic analysis MP:0003012 9.7 HNF1A INS KCNJ11 NEUROG3 PDX1 ABCC8
10 normal MP:0002873 9.65 BLK FOXA2 HNF4A INS KLF11 NEUROG3
11 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 150)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
2
Ethanol Approved Phase 4 64-17-5 702
3 Dipeptidyl-Peptidase IV Inhibitors Phase 4
4 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Sitagliptin Phosphate Phase 4
6 Anti-Infective Agents Phase 4,Not Applicable
7 Central Nervous System Depressants Phase 4,Phase 1
8 Anti-Infective Agents, Local Phase 4
9 Epoetin alfa Phase 4 113427-24-0
10 Hematinics Phase 4
11
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
12
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
13 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
14
Paclitaxel Approved, Vet_approved Phase 3,Phase 1 33069-62-4 36314
15
Polyestradiol phosphate Approved Phase 3 28014-46-2
16
Glimepiride Approved Phase 2, Phase 3,Not Applicable 93479-97-1 3476
17
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
18
Exenatide Approved, Investigational Phase 3 141758-74-9 15991534
19
Bimatoprost Approved, Investigational Phase 3 155206-00-1 5311027
20
Timolol Approved Phase 3 26839-75-8 33624 5478
21
Treprostinil Approved, Investigational Phase 3 81846-19-7 54786 6918140
22
chenodeoxycholic acid Approved Phase 3 474-25-9 10133
23
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
24
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
25 Albumin-Bound Paclitaxel Phase 3,Phase 1
26 Antimitotic Agents Phase 3,Phase 1
27 Antineoplastic Agents, Phytogenic Phase 3,Phase 1
28 Estradiol 17 beta-cypionate Phase 3
29 Estradiol 3-benzoate Phase 3
30 Anti-Arrhythmia Agents Phase 2, Phase 3,Phase 3,Not Applicable
31 Glucagon-Like Peptide 1 Phase 2, Phase 3,Phase 1,Not Applicable
32 Hormone Antagonists Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
33 Hormones Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
35 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
36 Incretins Phase 2, Phase 3,Phase 3,Not Applicable
37 Bone Density Conservation Agents Phase 3
38 Calcium, Dietary Phase 3
39 Ergocalciferols Phase 3
40 Micronutrients Phase 3,Phase 1
41 Trace Elements Phase 3,Phase 1
42 Vitamins Phase 3,Phase 1
43 Neurotransmitter Agents Phase 3,Phase 1
44 Gastrointestinal Agents Phase 3,Phase 1,Not Applicable
45 Adrenergic Agents Phase 3
46 Adrenergic Antagonists Phase 3
47 Adrenergic beta-Antagonists Phase 3
48 Antihypertensive Agents Phase 3
49 Cathartics Phase 3
50 Laxatives Phase 3

Interventional clinical trials:

(show top 50) (show all 59)
# 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 Alcohol Research Consortium in HIV-Intervention Research Arm Recruiting NCT02938377 Phase 4 Recommendation and Counseling for Alcohol Pharmacotherapy
3 A Study of Methoxy Polyethylene Glycol-Epoetin Beta (Mircera) for the Treatment of Chronic Renal Anemia in Participants With Diabetic Nephropathy Active, not recruiting NCT01191983 Phase 4 Methoxy polyethylene glycol-epoetin beta [Mircera]
4 Carboplatin With Either Paclitaxel Poliglumex or Paclitaxel in Treating Women With Stage IIIB, Stage IV, or Recurrent Non-Small Cell Lung Cancer Unknown status NCT00551733 Phase 3 carboplatin;paclitaxel;paclitaxel poliglumex
5 The Effects of GLP-1 in Maturity-Onset Diabetes of The Young (MODY) Completed NCT01610934 Phase 2, Phase 3 liraglutide;Glimepiride
6 Safety and Efficacy of OSTEOFORM (rhPTH [1-34]) in Increasing Bone Mineral Density in Osteoporosis Completed NCT00500409 Phase 3 Osteoform;SHELCAL
7 Extension Study for 2993-112 Completed NCT01789957 Phase 3 AC2993
8 Evaluation of the Effect on Glucose Control of AC2993 in Patients With Type 2 Diabetes Mellitus Treated With a Sulfonylurea Completed NCT00039026 Phase 3 AC2993;AC2993;Placebo;Placebo
9 Safety and Efficacy of Bimatoprost Sustained-Release (SR) in Patients With Open-Angle Glaucoma or Ocular Hypertension Recruiting NCT02250651 Phase 3 Bimatoprost sustained-release;Timolol;Timolol Vehicle (placebo)
10 An Open-Label, Long-Term Study of Oral Treprostinil in Subjects With Pulmonary Arterial Hypertension Recruiting NCT01560637 Phase 3 UT-15C (treprostinil diethanolamine)
11 Randomized Global Phase 3 Study to Evaluate the Impact on NASH With Fibrosis of Obeticholic Acid Treatment Recruiting NCT02548351 Phase 3 Obeticholic Acid;Placebo
12 Safety and Efficacy Phase 3 Study of Long-acting hGH (MOD-4023) in Growth Hormone Deficient Children Recruiting NCT02968004 Phase 3 MOD-4023;Somatropin
13 Efficacy of Foot Orthotics in Veterans With Chronic Lower Back Pain Terminated NCT01865539 Phase 2, Phase 3
14 A Study to Determine the Safety & Efficacy of Autologous Human Platelet Lysate (HPL) in Treatment of Dark Circles Unknown status NCT01644448 Phase 1, Phase 2
15 Clinical Trial of YH14618 in Patients With Degenerative Disc Disease Completed NCT02320019 Phase 2 Placebo;YH14618
16 Open-label Study of STA-9090 for Patients With Metastatic Breast Cancer Completed NCT01273896 Phase 2 STA-9090
17 RTA 408 Ophthalmic Suspension for the Prevention of Corneal Endothelial Cell Loss Following Cataract Surgery - GUARD Completed NCT02128113 Phase 2 Placebo;0.5% Omaveloxolone Ophthalmic Suspension;1% Omaveloxolone Ophthalmic Suspension
18 A Clinical Trial to Evaluate the Safety and Efficacy of ZYH7 Compared to Fenofibrate in Patients With Dyslipidemia Completed NCT01539616 Phase 2 ZYH7;ZYH7;ZYH7;Fenofibrate
19 Capecitabine 7/7 Schedule With Neratinib in Patients With Metastatic HER2-Positive Breast Cancer Recruiting NCT03377387 Phase 1, Phase 2 capecitabine;neratinib
20 Mobile Device Outcomes-based Rehabilitation Program Recruiting NCT02891707 Phase 1, Phase 2
21 Bone Marrow Transplantation vs Standard of Care in Patients With Severe Sickle Cell Disease (BMT CTN 1503) Recruiting NCT02766465 Phase 2 Busulfan;Fludarabine;r-ATG;Tacrolimus;Methotrexate
22 Evaluate Safety and Effectiveness of MBX-102 in Type 2 Diabetes Patients With Poor Glycemic Control on Metformin Terminated NCT00814372 Phase 2 MBX-102;Placebo;Actos;Metformin
23 Ganetespib, Paclitaxel, Trastuzumab and Pertuzumab for Metastatic Human Epidermal Growth Factor Receptor 2 Positive Breast Cancer Completed NCT02060253 Phase 1 ganetespib;paclitaxel
24 Bioequivalence Study of Zafirlukast Tablets 20 mg of Dr. Reddy's Laboratories Limited Under Fasting Condition Completed NCT01283061 Phase 1 Zafirlukast
25 Bioavailability Study of Anastrozole Tablets 1 mg of Dr.Reddy's Under Fed Conditions Completed NCT01155960 Phase 1 Anastrozole
26 Bioavailability Study of Duloxetine Delayed-Relase Capsules 60 mg Under Fed Condition Completed NCT02291341 Phase 1 Duloxetine;Cymbalta®
27 Bioequivalence Study of Eszopiclone Tablets, 3 mg Under Fed Conditions Completed NCT02322658 Phase 1 Eszopiclone Tablets 3 mg
28 Bioequivalence Study of Eszopiclone Tablets, 3 mg Under Fasting Conditions Completed NCT02322645 Phase 1 Eszopiclone Tablets 3 mg
29 Contribution of Hyperinsulinemia vs. Hyperglycemia to Insulin Resistance in Type 1 Diabetes and Maturity Onset Diabetes of the Young, Type 2 (MODY2) Recruiting NCT02971202 Phase 1 Hyperinsulinemic, euglycemic clamp;20% dextrose
30 PU-H71 With Nab-paclitaxel (Abraxane) in Metastatic Breast Cancer Recruiting NCT03166085 Phase 1 PU-H71;Nab-paclitaxel
31 Open-Label Study Evaluating the Safety and Tolerability of LJM716, BYL719 and Trastuzumab in Patients With Metastatic HER2+ Breast Cancer Recruiting NCT02167854 Phase 1 BYL719;LJM716;TRASTUZUMAB
32 T-Cell Therapy for Advanced Breast Cancer Recruiting NCT02792114 Phase 1 Cyclophosphamide;AP1903
33 A Safety Study of SGN-LIV1A in Breast Cancer Patients Recruiting NCT01969643 Phase 1 SGN-LIV1A;Trastuzumab
34 Comparing the Use of Vitamin c (Ascorbic Acid) in Eye Burn in Subconjunctival Injection to Topical or Oral Treatment. Withdrawn NCT00734695 Phase 1
35 PREterM FOrmula Or Donor Breast Milk for Premature Babies Unknown status NCT01686477 Not Applicable
36 Pathophysiological Implications of the Incretin Hormones in Maturity Onset of Diabetes of the Young (MODY) Completed NCT01342939
37 Orthotic Use for Chronic Low Back Pain Completed NCT02089750 Not Applicable
38 Predisposition Genes in Monogenic Diabetes (DIAMONO) Completed NCT02634229
39 Newborn Feeding and Infant Phenotype Completed NCT02033005
40 Post-prandial Glucose in Healthy Indian Subjects Completed NCT01999543 Not Applicable
41 Post-prandial Glucose in Healthy Subjects Completed NCT01955447 Not Applicable
42 Effect of a Plant-based Ingredient on Glucose Response Completed NCT02218528 Not Applicable
43 Transcorneal Electrical Stimulation Therapy for Retinal Disease Completed NCT00804102 Not Applicable
44 Cystic Fibrosis- Children and Adults Tai Chi Study Completed NCT02054377 Not Applicable
45 Plant-based Ingredient on Post Prandial Glucose in Type II Diabetes Completed NCT02256332 Not Applicable
46 The STAR Prospective Clinical Series Completed NCT02217150
47 Bioequivalence Study Comparing Clindamycin Phosphate (1.2%) and Tretinoin (0.025%) Topical Gel to Ziana and Placebo Completed NCT01257906 Not Applicable CLIND PHOSPHATE (1.2%) AND TRETINOIN (0.025%) TOPICAL GEL;ZIANA®;Vehicle Control
48 Study Comparing 0.3% Adapalene Topical Gel to Differin® 0.3% Adapalene Topical Gel Completed NCT01095640 Not Applicable adapalene 0.3% topical gel
49 The Effect of GIP and GLP-1 on Insulin and Glucagon Secretion in Patients With HNF1A-diabetes Treated With or Without Sulphonylurea Recruiting NCT03081676 Not Applicable Glimepiride 1Mg Tablet;Glucagon-like Peptide-1;Glucose-Dependent Insulinotropic Polypeptide;Placebo Oral Tablet;Placebo infusion
50 Impact on Birth Weight of Two Therapeutic Strategies (Insulin Therapy From the Beginning of Pregnancy vs. Insulin Therapy Initiated According to Fetal Growth Evaluated by Ultrasonography Measurements) in Pregnant Women With Monogenic Diabetes Recruiting NCT02556840 Not Applicable

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:

41
Bone, Testes, Lung, Liver, Kidney, Eye, T Cells

Publications for Maturity-Onset Diabetes of the Young

Articles related to Maturity-Onset Diabetes of the Young:

(show top 50) (show all 342)
# Title Authors Year
1
Maturity-onset diabetes of the young (MODY) as a model for elucidating the multifactorial origin of type 2 diabetes mellitus. ( 29406598 )
2018
2
The unique clinical spectrum of maturity onset diabetes of the young type 3. ( 29107759 )
2018
3
Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family. ( 29726111 )
2018
4
A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5). ( 29491316 )
2018
5
A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms. ( 29633446 )
2018
6
Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes? ( 29355436 )
2018
7
Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY). ( 29510678 )
2018
8
Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations. ( 29408271 )
2018
9
Quantitative Evaluation of Serum Proteins Uncovers a Protein Signature Related to Maturity-Onset Diabetes of the Young (MODY). ( 29182332 )
2018
10
A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations. ( 29222740 )
2018
11
Maturity onset diabetes of the young due to <i>HNF1A</i> variants in Croatia. ( 29666556 )
2018
12
Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease. ( 29574432 )
2018
13
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. ( 29417725 )
2018
14
Probing the Protein-Protein Interaction Network of Proteins Causing Maturity Onset Diabetes of the Young. ( 29412996 )
2018
15
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India. ( 29439679 )
2018
16
Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives. ( 29867778 )
2018
17
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation. ( 29597128 )
2018
18
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance. ( 29927023 )
2018
19
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation. ( 28925365 )
2017
20
Efficacy and safety of alogliptin in a pediatric patient with maturity-onset diabetes of the young type 1. ( 28804210 )
2017
21
Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing. ( 28555465 )
2017
22
A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY. ( 28987138 )
2017
23
Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention. ( 28453780 )
2017
24
A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY. ( 28987137 )
2017
25
Incremental cost-effectiveness of algorithm-driven genetic testing versus no testing for Maturity Onset Diabetes of the Young (MODY) in Singapore. ( 28835481 )
2017
26
Use of oral antidiabetic drugs in the treatment of maturity-onset diabetes of the young: A mini review. ( 28840639 )
2017
27
Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India. ( 28095440 )
2017
28
Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10. ( 28992123 )
2017
29
Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data. ( 28012402 )
2017
30
Maturity-Onset Diabetes of the Young: An Overview with Focus on the Middle East. ( 29473506 )
2017
31
Hepatocyte nuclear factor 1I^ maturity-onset diabetes of the young in a Chinese child presenting with hyperglycemic hyperosmolar state. ( 28593362 )
2017
32
An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY). ( 27935851 )
2017
33
A novel mutation in the hepatocyte nuclear factor-1I^ gene in maturity onset diabetes of the young 5 with multiple renal cysts and pancreas hypogenesis: A case report. ( 28912863 )
2017
34
Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients. ( 28663157 )
2017
35
A case of a novel mutation in HNF1I^-related maturity-onset diabetes of the young type 5 with diabetic kidney disease complication in a Chinese family. ( 28502589 )
2017
36
Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for? ( 27103109 )
2016
37
A three-step programmed method for the identification of causative gene mutations of maturity onset diabetes of the young (MODY). ( 27185633 )
2016
38
Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment. ( 27130141 )
2016
39
Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young. ( 27634015 )
2016
40
Divergent phenotypes in siblings with identical novel mutations in the HNF-1I+ gene leading to maturity onset diabetes of the young type 3. ( 27142837 )
2016
41
A Single Nucleotide Variant in HNF-1I^ is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family. ( 27114981 )
2016
42
GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. ( 27256595 )
2016
43
Studies of genetic variability of the hepatocyte nuclear factor-1I+ gene in an Indian maturity-onset diabetes of the young family. ( 27148439 )
2016
44
ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective. ( 27538677 )
2016
45
Maturity-Onset Diabetes of the Young: A Genetic Form of Diabetes in Children. ( 27955956 )
2016
46
Maturity onset diabetes of the young 5 accompanied by duodenal cysts. ( 26676964 )
2016
47
A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY. ( 27852188 )
2016
48
Maturity onset diabetes of the young: Seek and you will find. ( 27323672 )
2016
49
Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young. ( 25721872 )
2015
50
The complexity of elucidating whether novel mutations in the hepatocyte nuclear factor one alpha gene are responsible for maturity onset diabetes of the young in ethnic minorities. ( 26393317 )
2015

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 776)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
2 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh38 Chromosome 11, 17388025: 17388025
3 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh37 Chromosome 13, 28494501: 28494501
4 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh38 Chromosome 13, 27920364: 27920364
5 PAX4 NM_006193.2(PAX4): c.397C> T (p.Arg133Trp) single nucleotide variant risk factor rs2233578 GRCh37 Chromosome 7, 127254551: 127254551
6 PAX4 NM_006193.2(PAX4): c.397C> T (p.Arg133Trp) single nucleotide variant risk factor rs2233578 GRCh38 Chromosome 7, 127614497: 127614497
7 ABCC8; KCNJ11 NM_000352.4(ABCC8): c.4714G> A (p.Val1572Ile) single nucleotide variant Benign/Likely benign rs8192690 GRCh37 Chromosome 11, 17414570: 17414570
8 ABCC8; KCNJ11 NM_000352.4(ABCC8): c.4714G> A (p.Val1572Ile) single nucleotide variant Benign/Likely benign rs8192690 GRCh38 Chromosome 11, 17393023: 17393023
9 ABCC8; KCNJ11 NM_000352.4(ABCC8): c.4728C> T (p.Phe1576=) single nucleotide variant Likely benign rs73419228 GRCh37 Chromosome 11, 17414556: 17414556
10 ABCC8; KCNJ11 NM_000352.4(ABCC8): c.4728C> T (p.Phe1576=) single nucleotide variant Likely benign rs73419228 GRCh38 Chromosome 11, 17393009: 17393009
11 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh37 Chromosome 11, 17408496: 17408496
12 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh38 Chromosome 11, 17386949: 17386949
13 KCNJ11 NM_000525.3(KCNJ11): c.1089A> G (p.Ser363=) single nucleotide variant Benign/Likely benign rs5214 GRCh37 Chromosome 11, 17408550: 17408550
14 KCNJ11 NM_000525.3(KCNJ11): c.1089A> G (p.Ser363=) single nucleotide variant Benign/Likely benign rs5214 GRCh38 Chromosome 11, 17387003: 17387003
15 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh37 Chromosome 11, 17408630: 17408630
16 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh38 Chromosome 11, 17387083: 17387083
17 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh37 Chromosome 11, 17408831: 17408831
18 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh38 Chromosome 11, 17387284: 17387284
19 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh37 Chromosome 11, 17408838: 17408838
20 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh38 Chromosome 11, 17387291: 17387291
21 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh37 Chromosome 11, 17409069: 17409069
22 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh38 Chromosome 11, 17387522: 17387522
23 GCK NM_000162.3(GCK): c.333C> T (p.Pro111=) single nucleotide variant Likely benign rs61736250 GRCh38 Chromosome 7, 44152301: 44152301
24 GCK NM_000162.3(GCK): c.333C> T (p.Pro111=) single nucleotide variant Likely benign rs61736250 GRCh37 Chromosome 7, 44191900: 44191900
25 BLK NM_001715.2(BLK): c.713G> A (p.Arg238Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141865425 GRCh38 Chromosome 8, 11555425: 11555425
26 BLK NM_001715.2(BLK): c.713G> A (p.Arg238Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141865425 GRCh37 Chromosome 8, 11412934: 11412934
27 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.108G> A (p.Val36=) single nucleotide variant Benign/Likely benign rs112070496 GRCh38 Chromosome 11, 17387984: 17387984
28 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.108G> A (p.Val36=) single nucleotide variant Benign/Likely benign rs112070496 GRCh37 Chromosome 11, 17409531: 17409531
29 HNF4A NM_000457.4(HNF4A): c.1309C> T (p.Pro437Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150776703 GRCh37 Chromosome 20, 43058189: 43058189
30 HNF4A NM_000457.4(HNF4A): c.1309C> T (p.Pro437Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150776703 GRCh38 Chromosome 20, 44429549: 44429549
31 NEUROD1 NM_002500.4(NEUROD1): c.777C> T (p.Ser259=) single nucleotide variant Uncertain significance rs115027760 GRCh37 Chromosome 2, 182542811: 182542811
32 NEUROD1 NM_002500.4(NEUROD1): c.777C> T (p.Ser259=) single nucleotide variant Uncertain significance rs115027760 GRCh38 Chromosome 2, 181678084: 181678084
33 GCK NM_000162.3(GCK): c.*11C> T single nucleotide variant Likely benign rs200698755 GRCh37 Chromosome 7, 44184724: 44184724
34 GCK NM_000162.3(GCK): c.*11C> T single nucleotide variant Likely benign rs200698755 GRCh38 Chromosome 7, 44145125: 44145125
35 GCK NM_000162.3(GCK): c.645C> T (p.Tyr215=) single nucleotide variant Benign/Likely benign rs144723656 GRCh37 Chromosome 7, 44189393: 44189393
36 GCK NM_000162.3(GCK): c.645C> T (p.Tyr215=) single nucleotide variant Benign/Likely benign rs144723656 GRCh38 Chromosome 7, 44149794: 44149794
37 BLK NM_001715.2(BLK): c.116C> T (p.Pro39Leu) single nucleotide variant Likely benign rs142352008 GRCh37 Chromosome 8, 11400849: 11400849
38 BLK NM_001715.2(BLK): c.116C> T (p.Pro39Leu) single nucleotide variant Likely benign rs142352008 GRCh38 Chromosome 8, 11543340: 11543340
39 BLK NM_001715.2(BLK): c.472+12G> A single nucleotide variant Likely benign rs145058498 GRCh37 Chromosome 8, 11407783: 11407783
40 BLK NM_001715.2(BLK): c.472+12G> A single nucleotide variant Likely benign rs145058498 GRCh38 Chromosome 8, 11550274: 11550274
41 INS; INS-IGF2; TH NM_000207.2(INS): c.*9C> T single nucleotide variant Benign/Likely benign rs3842752 GRCh38 Chromosome 11, 2159843: 2159843
42 INS; INS-IGF2; TH NM_000207.2(INS): c.*9C> T single nucleotide variant Benign/Likely benign rs3842752 GRCh37 Chromosome 11, 2181073: 2181073
43 INS; INS-IGF2; TH NM_000207.2(INS): c.187+11T> C single nucleotide variant Benign rs5506 GRCh37 Chromosome 11, 2182004: 2182004
44 INS; INS-IGF2; TH NM_000207.2(INS): c.187+11T> C single nucleotide variant Benign rs5506 GRCh38 Chromosome 11, 2160774: 2160774
45 INS; TH NM_199292.2(TH): c.1293+9C> T single nucleotide variant Benign/Likely benign rs11564717 GRCh38 Chromosome 11, 2165659: 2165659
46 INS; TH NM_199292.2(TH): c.1293+9C> T single nucleotide variant Benign/Likely benign rs11564717 GRCh37 Chromosome 11, 2186889: 2186889
47 HNF1A NM_000545.6(HNF1A): c.1377G> A (p.Leu459=) single nucleotide variant Likely benign rs118028009 GRCh37 Chromosome 12, 121435344: 121435344
48 HNF1A NM_000545.6(HNF1A): c.1377G> A (p.Leu459=) single nucleotide variant Likely benign rs118028009 GRCh38 Chromosome 12, 120997541: 120997541
49 KLF11 NM_003597.4(KLF11): c.-80_-78delGCC deletion Benign rs886054719 GRCh38 Chromosome 2, 10043637: 10043639
50 KLF11 NM_003597.4(KLF11): c.-80_-78delGCC deletion Benign rs886054719 GRCh37 Chromosome 2, 10183764: 10183766

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:

37
# 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 FOXA2 GCK HNF1A HNF1B HNF4A INS
2
Show member pathways
12.82 ABCC8 GCK INS KCNJ11 PDX1 SLC2A2
3 12.44 FOXA2 GCKR HNF1A HNF4A INS NEUROD1
4
Show member pathways
12.19 ABCC8 INS KCNJ11 PKLR SLC2A2
5 12.1 FOXA2 HNF1B INS NEUROD1 NEUROG3 NKX2-2
6
Show member pathways
12 FOXA2 GCK HNF1A HNF1B HNF4A INS
7
Show member pathways
11.97 FOXA2 GCK HNF1A HNF1B HNF4A INS
8
Show member pathways
11.69 GCK GCKR SLC2A2
9
Show member pathways
11.68 ABCC8 GCK HNF1A HNF1B HNF4A INS
10 11.11 FOXA2 NEUROD1 NKX2-2
11 10.97 ABCC8 FOXA2 GCK HNF1A HNF4A INS
12 10.73 INS SLC2A2
13 10.4 HNF1A HNF4A

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 nucleoplasm GO:0005654 9.65 FOXA2 GCK GCKR HNF1B HNF4A KLF11
2 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.96 ABCC8 HNF1B KCNJ11 NEUROD1 PAX4
2 carbohydrate metabolic process GO:0005975 9.88 GCK GCKR INS PKLR SLC2A2
3 positive regulation of DNA binding transcription factor activity GO:0051091 9.83 NEUROD1 NEUROG3 NKX2-2
4 positive regulation of neuron differentiation GO:0045666 9.8 NEUROD1 NEUROG3 NKX2-2
5 liver development GO:0001889 9.79 HNF1A HNF1B PDX1
6 glucose homeostasis GO:0042593 9.73 GCK HNF1A HNF4A INS NEUROD1 PDX1
7 positive regulation of cell differentiation GO:0045597 9.72 INS NEUROD1 NEUROG3 NKX2-2 PAX4
8 glucose metabolic process GO:0006006 9.71 GCK INS KCNJ11 PDX1
9 response to glucose GO:0009749 9.7 HNF1A HNF1B HNF4A INS NEUROD1 NKX2-2
10 insulin secretion GO:0030073 9.67 HNF1A HNF1B NEUROD1 PDX1
11 signal transduction involved in regulation of gene expression GO:0023019 9.66 HNF4A NEUROD1
12 response to ATP GO:0033198 9.65 KCNJ11 PKLR
13 nitric oxide mediated signal transduction GO:0007263 9.65 NEUROD1 PDX1
14 positive regulation of glycogen biosynthetic process GO:0045725 9.64 GCK INS
15 cellular glucose homeostasis GO:0001678 9.64 GCK GCKR
16 regulation of protein localization to plasma membrane GO:1903076 9.63 APPL1 INS
17 negative regulation of gluconeogenesis GO:0045721 9.63 GCK INS
18 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.61 HNF1A HNF1B
19 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.61 NEUROD1 PDX1
20 hindbrain development GO:0030902 9.61 HNF1B NEUROD1 NEUROG3
21 negative regulation of glucokinase activity GO:0033132 9.59 FOXA2 GCKR
22 detection of glucose GO:0051594 9.55 GCK PDX1
23 pancreatic PP cell fate commitment GO:0003329 9.54 NEUROD1 NKX2-2
24 pancreatic A cell fate commitment GO:0003326 9.52 NEUROD1 NKX2-2
25 regulation of pronephros size GO:0035565 9.51 HNF1A HNF1B
26 regulation of insulin secretion GO:0050796 9.5 ABCC8 GCK HNF1A HNF4A KCNJ11 NEUROD1
27 endocrine pancreas development GO:0031018 9.17 FOXA2 HNF1A NEUROD1 NEUROG3 NKX2-2 PAX4
28 transcription, DNA-templated GO:0006351 10.27 FOXA2 HNF1A HNF1B HNF4A KLF11 NEUROD1
29 regulation of transcription, DNA-templated GO:0006355 10.24 FOXA2 HNF1A HNF1B HNF4A INS KLF11
30 cell differentiation GO:0030154 10.14 BLK FOXA2 NEUROD1 NEUROG3 NKX2-2 PAX4
31 transcription by RNA polymerase II GO:0006366 10.06 HNF1A HNF4A KLF11 NEUROD1 NEUROG3 PDX1
32 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 FOXA2 HNF1A HNF1B HNF4A NEUROD1 NEUROG3
33 positive regulation of transcription, DNA-templated GO:0045893 10.05 FOXA2 HNF1A HNF1B HNF4A NEUROD1 PDX1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.83 FOXA2 HNF1A HNF4A NEUROG3 PDX1
2 DNA binding transcription factor activity GO:0003700 9.81 FOXA2 HNF1A HNF1B HNF4A KLF11 NEUROD1
3 transcription factor binding GO:0008134 9.8 FOXA2 HNF1A NEUROD1 NKX2-2
4 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.76 HNF1A HNF4A NEUROD1 NEUROG3
5 transcription regulatory region DNA binding GO:0044212 9.65 FOXA2 HNF1A HNF1B HNF4A KLF11
6 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.65 FOXA2 HNF1A HNF1B HNF4A KLF11 NEUROD1
7 double-stranded DNA binding GO:0003690 9.62 HNF1A NEUROD1 NEUROG3 PAX4
8 potassium ion binding GO:0030955 9.48 KCNJ11 PKLR
9 ATP-activated inward rectifier potassium channel activity GO:0015272 9.4 ABCC8 KCNJ11
10 sequence-specific DNA binding GO:0043565 9.23 FOXA2 HNF1A HNF1B HNF4A NEUROD1 NKX2-2
11 DNA binding GO:0003677 10.07 FOXA2 HNF1A HNF1B HNF4A KLF11 NEUROD1

Sources for Maturity-Onset Diabetes of the Young

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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