MCID: MTR004
MIFTS: 54

Maturity-Onset Diabetes of the Young malady

Genetic diseases, Rare diseases, Endocrine diseases, Neuronal diseases categories

Aliases & Classifications for Maturity-Onset Diabetes of the Young

About this section
Sources:
9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Maturity-Onset Diabetes of the Young, Aliases & Descriptions:

Name: Maturity-Onset Diabetes of the Young 9 41 20 11 47 22
Mody 9 41 47
Maturity Onset Diabetes Mellitus in Young 60
 
Mason Type Diabetes 41
Mason-Type Diabetes 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
maturity-onset diabetes of the young:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood


External Ids:

Disease Ontology9 DOID:0050524
Orphanet47 552
ICD10 via Orphanet26 E11.8

Summaries for Maturity-Onset Diabetes of the Young

About this section


Wikipedia:63 Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes caused... more...

MalaCards based summary: Maturity-Onset Diabetes of the Young, also known as mody, is related to pancreatitis and diabetic ketoacidosis. An important gene associated with Maturity-Onset Diabetes of the Young is GCK (glucokinase (hexokinase 4)), and among its related pathways are Dichloroethylene metabolism and Inwardly rectifying K+ channels. The compounds chromium picolinate and mannitol-1-phosphate have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and liver, and related mouse phenotypes are adipose tissue and no phenotypic analysis.

Disease Ontology:9 A genetic disease that has material basis in mutations in the mody genes disrupting insulin production.

Related Diseases for Maturity-Onset Diabetes of the Young

About this section

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

Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 10
Maturity-Onset Diabetes of the Young, Type Vii Maturity-Onset Diabetes of the Young 6
Maturity-Onset Diabetes of the Young, Type Ix Maturity-Onset Diabetes of the Young, Type Viii

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis31.5INS, CEL, CELA3B
2diabetic ketoacidosis31.1INS
3mody, type ii31.0GCK, INS, KCNJ11, ABCC8, HNF4A, HNF1A
4hypoglycemia31.0GCK, ABCC8, INS, HNF4A, GCKR, KCNJ11
5hyperinsulinemic hypoglycemia31.0KCNJ11, ABCC8, INS, GCK
6pancreatic agenesis30.8PDX1
7hyperinsulinism30.6GCK, INS, ABCC8, KCNJ11
8obesity30.3HNF4A, HNF1A, GCK, ABCC8, FOXA2, ISL1
9neonatal diabetes mellitus30.1ABCC8, KCNJ11, HNF1B, PDX1, GCK, INS
10hyperglycemia29.8HNF4A, HNF1A, HNF1B, NEUROD1, PAX4, INS
11maturity-onset diabetes of the young, type ix10.9
12maturity-onset diabetes of the young, type viii10.9
13maturity-onset diabetes of the young 610.8
14maturity-onset diabetes of the young, type vii10.8
15renal cysts and diabetes syndrome10.8
16mody, type iii10.7
17mody, type i10.7
18maturity-onset diabetes of the young, type 1110.7
19maturity-onset diabetes of the young, type 1010.7
20mody, type iv10.7
21hepatitis10.7
22fanconi renotubular syndrome 4, with maturity-onset diabetes of the young10.6
23maturity-onset diabetes of the young type1010.6
24maturity-onset diabetes of the young type1110.6
25duodenitis10.5
26exocrine pancreatic insufficiency10.4CEL, CELA3B
27colorectal cancer10.3
28fanconi renotubular syndrome 110.3
29hepatic adenoma, somatic10.3
30granuloma annulare10.3
31necrobiosis lipoidica10.3
32kidney disease10.3
33thyroiditis10.3
34blindness10.3
35renal dysplasia10.3
36hyperuricemia10.3GCK, HNF1B, INS
37diabetes mellitus, noninsulin-dependent10.3HNF4A, HNF1B
38monogenic diabetes10.3
39glucose intolerance10.3GCK, PAX4, PDX1, INS
40diabetes mellitus, insulin-dependent10.3HNF4A, HNF1A, GCK, INS
41hyperinsulinemic hypoglycemia, familial, 210.2INS, ABCC8
42diabetes mellitus, permanent neonatal10.2GCK, ABCC8, INS
43polycystic kidney and hepatic disease10.1HNF1A, HNF1B
44hyperammonemia multi-gene panels10.1KCNJ11, ABCC8, GCK
45metabolic syndrome x10.1INS, GCK, HNF4A, ABCC8
46primary hyperoxaluria10.0HNF1B, HNF1A, HNF4A, INS
47pancreatic cancer10.0KLF11, INS, CELA3B, CEL, HNF4A, PDX1
48greig cephalopolysyndactyly syndrome10.0
49adenocarcinoma10.0NEUROD1, PDX1, HNF4A, HNF1B, CEL
50cystic fibrosis10.0INS, CELA3B, ABCC8, KCNJ11

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 for Maturity-Onset Diabetes of the Young

About this section

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young

About this section

Drug clinical trials:

Search ClinicalTrials for Maturity-Onset Diabetes of the Young

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

Genetic Tests for Maturity-Onset Diabetes of the Young

About this section

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

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Multi-Gene Panels20
2 Maturity Onset Diabetes Mellitus in Young22

Anatomical Context for Maturity-Onset Diabetes of the Young

About this section

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

31
Testes, Kidney, Liver, Pancreas, Thyroid, Uterus

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

About this section

Publications for Maturity-Onset Diabetes of the Young

About this section

Articles related to Maturity-Onset Diabetes of the Young:

(show top 50)    (show all 277)
idTitleAuthorsYear
1
Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients. (24804978)
2014
2
Incretin effect and glucagon responses to oral and intravenous glucose in patients with maturity-onset diabetes of the young--type 2 and type 3. (24677712)
2014
3
Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. (23771925)
2013
4
Exocrine pancreatic function in hepatocyte nuclear factor 1I^-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. (23600988)
2013
5
HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response. (24299156)
2013
6
Should the negativity for islet cell autoantibodies be used in a prescreening for genetic testing in maturity-onset diabetes of the young? The case of autoimmunity-associated destruction of pancreatic I^-cells in a family of HNF1A-MODY subjects. (23548576)
2013
7
Metabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkers. (22859960)
2012
8
A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5). (23926411)
2012
9
A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young. (21263211)
2011
10
Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene. (21677039)
2011
11
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. (21395678)
2011
12
Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. (20724646)
2010
13
A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2). (23926378)
2010
14
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. (17989309)
2008
15
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. (17828387)
2007
16
Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations. (17337496)
2007
17
Improved prandial glucose control with lower risk of hypoglycemia with nateglinide than with glibenclamide in patients with maturity-onset diabetes of the young type 3. (16443858)
2006
18
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. (16731834)
2006
19
Molecular diagnosis on indication of maturity onset diabetes of the young; results from 184 patients]. (15693590)
2005
20
Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families. (15001650)
2004
21
The G115S mutation associated with maturity-onset diabetes of the young impairs hepatocyte nuclear factor 4alpha activities and introduces a PKA phosphorylation site in its DNA-binding domain. (15233628)
2004
22
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. (12955723)
2003
23
Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY). (14614204)
2003
24
The role of transcription factors in maturity-onset diabetes of the young. (12359128)
2002
25
Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. (11485019)
2001
26
Prevalence of maturity-onset diabetes of the young mutations in Brazilian families with autosomal-dominant early-onset type 2 diabetes. (11315851)
2001
27
Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. (10754480)
2000
28
Diagnosis of maturity-onset diabetes of the young in the pediatric diabetes clinic. (11202217)
2000
29
Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter. (10967107)
2000
30
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. (11058894)
2000
31
R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family. (11043869)
2000
32
Impaired insulin secretion and increased insulin sensitivity in familial maturity-onset diabetes of the young 4 (insulin promoter factor 1 gene). (11078452)
2000
33
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. (10102714)
1999
34
Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia. (9713013)
1998
35
Mutations in the genes of the HNF-family cause maturity-onset diabetes of the young (MODY)]. (9780731)
1998
36
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. (9075818)
1997
37
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. (9439666)
1997
38
Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus. (9162575)
1997
39
Diabetic lipemia with maturity-onset diabetes of the young. (9260775)
1997
40
The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. (9371825)
1997
41
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity- onset diabetes of the young (MODY1). (8945471)
1996
42
Maturity onset diabetes of the young (MODY). (8894490)
1996
43
Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young. (8404429)
1993
44
Identification of genetic markers flanking the locus for maturity-onset diabetes of the young on human chromosome 20. (1345781)
1992
45
Mapping diabetes-susceptibility genes. Lessons learned from search for DNA marker for maturity-onset diabetes of the young. (1607066)
1992
46
Maturity onset diabetes of the young in a Saudi child: Case report and review of the literature. (17590827)
1991
47
Insulin resistance in maturity onset diabetes of the young. (3301443)
1987
48
HLA and maturity onset diabetes of the young. (6884609)
1983
49
Insulin binding and insulin action in fibroblasts from patients with maturity-onset diabetes of the young. (7028547)
1981
50
Diabetic nephropathy in a patient with maturity-onset diabetes of the young. (7235789)
1981

Variations for Maturity-Onset Diabetes of the Young

About this section

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

6 (show all 167)
id Gene Variation Type Significance SNP ID Assembly Location
1BLKNM_001715.2(BLK): c.211G> A (p.Ala71Thr)single nucleotide variantPathogenicrs55758736GRCh37Chr 8, 11405576: 11405576
2BLKBLK, CHR8: 11,459,364, T-Gsingle nucleotide variantPathogenic
3BLKBLK, CHR8: 11,468,050, C-Tsingle nucleotide variantPathogenic
4BLKBLK, CHR8: 11,369,157, G-Asingle nucleotide variantPathogenic
5BLKBLK, CHR8: 11,459,531, G-Tsingle nucleotide variantPathogenic
6NM_000207.2(INS): c.16C> T (p.Arg6Cys)single nucleotide variantPathogenicrs121908278GRCh37Chr 11, 2182186: 2182186
7NM_000207.2(INS): c.137G> A (p.Arg46Gln)single nucleotide variantPathogenicrs121908260GRCh37Chr 11, 2182065: 2182065
8PAX4NM_006193.2(PAX4): c.490C> T (p.Arg164Trp)single nucleotide variantPathogenicrs121917718GRCh37Chr 7, 127253858: 127253858
9PAX4PAX4, IVS7, G-A, -1single nucleotide variantPathogenic
10HNF1ANM_000545.5(HNF1A): c.1340C> T (p.Pro447Leu)single nucleotide variantPathogenicrs137853236GRCh37Chr 12, 121435307: 121435307
11HNF1AHNF1A, 1-BP DELdeletionPathogenic
12HNF1ANM_000545.5(HNF1A): c.365A> G (p.Tyr122Cys)single nucleotide variantPathogenicrs137853237GRCh37Chr 12, 121426674: 121426674
13HNF1AHNF1A, A-C, -58single nucleotide variantPathogenic
14HNF1ANM_000545.5(HNF1A): c.1859C> T (p.Thr620Ile)single nucleotide variantPathogenicrs137853241GRCh37Chr 12, 121438958: 121438958
15HNF1AHNF1A, 1-BP DEL, -119GdeletionPathogenic
16HNF1ANM_000545.5(HNF1A): c.1720G> A (p.Gly574Ser)single nucleotide variantPathogenicrs1169305GRCh37Chr 12, 121437382: 121437382
17HNF1ANM_000545.5(HNF1A): c.1748G> A (p.Arg583Gln)single nucleotide variantLikely pathogenic, Pathogenicrs137853242GRCh37Chr 12, 121437410: 121437410
18HNF1AHNF1A, IVS3, G-A, -1single nucleotide variantPathogenic
19HNF1ANM_000545.5(HNF1A): c.335C> T (p.Pro112Leu)single nucleotide variantPathogenicrs137853243GRCh37Chr 12, 121426644: 121426644
20HNF1ANM_000545.5(HNF1A): c.391C> T (p.Arg131Trp)single nucleotide variantPathogenicrs137853244GRCh37Chr 12, 121426700: 121426700
21HNF1AHNF1A, 4-BP DELdeletionPathogenic
22HNF1ANM_000545.5(HNF1A): c.827C> A (p.Ala276Asp)single nucleotide variantPathogenicrs137853245GRCh37Chr 12, 121432080: 121432080
23HNF1AHNF1A, 2-BP DEL, AGdeletionPathogenic
24HNF1ANM_000545.5(HNF1A): c.1592G> C (p.Ser531Thr)single nucleotide variantPathogenicrs137853246GRCh37Chr 12, 121437161: 121437161
25HNF1ANM_000545.5(HNF1A): c.92G> A (p.Gly31Asp)single nucleotide variantPathogenicrs137853247GRCh37Chr 12, 121416663: 121416663
26GCKNM_000162.3(GCK): c.683C> T (p.Thr228Met)single nucleotide variantPathogenicrs80356655GRCh37Chr 7, 44187429: 44187429
27CELCEL, 1-BP DEL, 1686TdeletionPathogenic
28CELCEL, 1-BP DEL, 1785CdeletionPathogenic
29CELNM_001807.4(CEL): c.1785delC (p.Val596Cysfs)deletionLikely pathogenicrs193922638GRCh37Chr 9, 135946665: 135946665
30GCKNM_000162.3(GCK): c.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet)indelLikely pathogenicrs193922252GRCh37Chr 7, 44186078: 44186079
31GCKNM_000162.3(GCK): c.1003_1004insAA (p.Val335Glufs)insertionLikely pathogenicrs193922253GRCh37Chr 7, 44186077: 44186078
32GCKNM_000162.3(GCK): c.1003delG (p.Val335Cysfs)deletionLikely pathogenicrs193922254GRCh37Chr 7, 44186078: 44186078
33GCKNM_000162.3(GCK): c.1018A> G (p.Ser340Gly)single nucleotide variantLikely pathogenicrs193922255GRCh37Chr 7, 44186063: 44186063
34GCKNM_000162.3(GCK): c.1020-1G> Csingle nucleotide variantLikely pathogenicrs193922258GRCh37Chr 7, 44185330: 44185330
35GCKNM_000162.3(GCK): c.103A> T (p.Arg35Ter)single nucleotide variantLikely pathogenicrs193922259GRCh37Chr 7, 44193005: 44193005
36GCKNM_000162.3(GCK): c.1042A> T (p.Ile348Phe)single nucleotide variantLikely pathogenicrs193922260GRCh37Chr 7, 44185307: 44185307
37GCKNM_000162.3(GCK): c.107G> C (p.Arg36Pro)single nucleotide variantLikely pathogenicrs193922261GRCh37Chr 7, 44193001: 44193001
38GCKNM_000162.3(GCK): c.1114G> T (p.Glu372Ter)single nucleotide variantLikely pathogenicrs193922262GRCh37Chr 7, 44185235: 44185235
39GCKNM_000162.3(GCK): c.1124C> T (p.Ser375Phe)single nucleotide variantLikely pathogenicrs193922263GRCh37Chr 7, 44185225: 44185225
40GCKNM_000162.3(GCK): c.1130G> A (p.Arg377His)single nucleotide variantLikely pathogenicrs193922264GRCh37Chr 7, 44185219: 44185219
41GCKNM_000162.3(GCK): c.1136C> A (p.Ala379Glu)single nucleotide variantLikely pathogenicrs193922265GRCh37Chr 7, 44185213: 44185213
42GCKNM_000162.3(GCK): c.1142T> G (p.Met381Arg)single nucleotide variantLikely pathogenicrs193922266GRCh37Chr 7, 44185207: 44185207
43GCKNM_000162.3(GCK): c.1153G> A (p.Gly385Arg)single nucleotide variantLikely pathogenicrs193922267GRCh37Chr 7, 44185196: 44185196
44GCKNM_000162.3(GCK): c.1157T> C (p.Leu386Pro)single nucleotide variantLikely pathogenicrs193922268GRCh37Chr 7, 44185192: 44185192
45GCKNM_000162.3(GCK): c.1160C> A (p.Ala387Glu)single nucleotide variantLikely pathogenicrs193921338GRCh37Chr 7, 44185189: 44185189
46GCKNM_000162.3(GCK): c.1160C> T (p.Ala387Val)single nucleotide variantLikely pathogenicrs193921338GRCh37Chr 7, 44185189: 44185189
47GCKNM_000162.3(GCK): c.1169T> A (p.Ile390Asn)single nucleotide variantLikely pathogenicrs193921340GRCh37Chr 7, 44185180: 44185180
48GCKNM_000162.3(GCK): c.1169T> C (p.Ile390Thr)single nucleotide variantLikely pathogenicrs193921340GRCh37Chr 7, 44185180: 44185180
49GCKNM_000162.3(GCK): c.1175G> T (p.Arg392Leu)single nucleotide variantLikely pathogenicrs193922269GRCh37Chr 7, 44185174: 44185174
50GCKNM_000162.3(GCK): c.1207C> G (p.Arg403Gly)single nucleotide variantLikely pathogenicrs193922271GRCh37Chr 7, 44185142: 44185142
51GCKNM_000162.3(GCK): c.1240A> G (p.Lys414Glu)single nucleotide variantLikely pathogenicrs193922272GRCh37Chr 7, 44185109: 44185109
52GCKNM_000162.3(GCK): c.1268T> A (p.Phe423Tyr)single nucleotide variantLikely pathogenicrs193922273GRCh37Chr 7, 44184865: 44184865
53GCKNM_000162.3(GCK)indelLikely pathogenicrs193922274GRCh37Chr 7, 44184775: 44184854
54GCKNM_000162.3(GCK): c.1283_1284delGC (p.Arg428Glnfs)deletionLikely pathogenicrs193922275GRCh37Chr 7, 44184849: 44184850
55GCKNM_000162.3(GCK): c.1289T> C (p.Leu430Pro)single nucleotide variantLikely pathogenicrs193922277GRCh37Chr 7, 44184844: 44184844
56GCKNM_000162.3(GCK): c.1307T> A (p.Ile436Asn)single nucleotide variantLikely pathogenicrs193922278GRCh37Chr 7, 44184826: 44184826
57GCKNM_000162.3(GCK): c.131G> A (p.Gly44Asp)single nucleotide variantLikely pathogenicrs193922279GRCh37Chr 7, 44192977: 44192977
58GCKNM_000162.3(GCK): c.1332delC (p.Ser445Valfs)deletionLikely pathogenicrs193922280GRCh37Chr 7, 44184801: 44184801
59GCKNM_000162.3(GCK): c.1339C> G (p.Arg447Gly)single nucleotide variantLikely pathogenicrs193922281GRCh37Chr 7, 44184794: 44184794
60GCKNM_000162.3(GCK): c.1345G> A (p.Ala449Thr)single nucleotide variantLikely pathogenicrs193922282GRCh37Chr 7, 44184788: 44184788
61GCKNM_000162.3(GCK): c.1358C> T (p.Ser453Leu)single nucleotide variantLikely pathogenicrs193922283GRCh37Chr 7, 44184775: 44184775
62GCKNM_000162.3(GCK): c.1372_1373delAA (p.Lys458Glufs)deletionLikely pathogenicrs193922284GRCh37Chr 7, 44184760: 44184761
63GCKNM_000162.3(GCK): c.1386G> T (p.Met462Ile)single nucleotide variantLikely pathogenicrs193922285GRCh37Chr 7, 44184747: 44184747
64GCKp.X466Trpsingle nucleotide variantLikely pathogenic
65GCKNM_000162.3(GCK): c.146C> A (p.Thr49Asn)single nucleotide variantLikely pathogenicrs193922286GRCh37Chr 7, 44192962: 44192962
66GCKNM_000162.3(GCK): c.175C> T (p.Pro59Ser)single nucleotide variantLikely pathogenicrs193922287GRCh37Chr 7, 44192933: 44192933
67GCKNM_000162.3(GCK): c.214G> A (p.Gly72Arg)single nucleotide variantPathogenicrs193922289GRCh37Chr 7, 44192019: 44192019
68GCKNM_000162.3(GCK): c.253A> T (p.Arg85Trp)single nucleotide variantLikely pathogenicrs193922290GRCh37Chr 7, 44191980: 44191980
69GCKNM_000162.3(GCK): c.304A> T (p.Lys102Ter)single nucleotide variantLikely pathogenicrs193922291GRCh37Chr 7, 44191929: 44191929
70GCKNM_000162.3(GCK): c.322T> G (p.Tyr108Asp)single nucleotide variantLikely pathogenicrs193922292GRCh37Chr 7, 44191911: 44191911
71GCKNM_000162.3(GCK): c.393delC (p.Asp132Thrfs)deletionLikely pathogenicrs193922295GRCh37Chr 7, 44190645: 44190645
72GCKNM_000162.3(GCK): c.440G> A (p.Gly147Asp)single nucleotide variantLikely pathogenicrs193922296GRCh37Chr 7, 44190598: 44190598
73GCKNM_000162.3(GCK): c.449T> C (p.Phe150Ser)single nucleotide variantLikely pathogenicrs193922297GRCh37Chr 7, 44190589: 44190589
74GCKNM_000162.3(GCK): c.457C> T (p.Pro153Ser)single nucleotide variantLikely pathogenicrs193922300GRCh37Chr 7, 44190581: 44190581
75GCKNM_000162.3(GCK): c.463A> G (p.Arg155Gly)single nucleotide variantLikely pathogenicrs193922301GRCh37Chr 7, 44190575: 44190575
76GCKNM_000162.3(GCK): c.483G> A (p.Lys161=)single nucleotide variantLikely pathogenicrs193922302GRCh37Chr 7, 44190555: 44190555
77GCKNM_000162.3(GCK): c.509G> T (p.Gly170Val)single nucleotide variantLikely pathogenicrs193922303GRCh37Chr 7, 44189638: 44189638
78GCKNM_000162.3(GCK): c.527C> G (p.Ala176Gly)single nucleotide variantLikely pathogenicrs193922304GRCh37Chr 7, 44189620: 44189620
79GCKNM_000162.3(GCK): c.532G> A (p.Gly178Arg)single nucleotide variantLikely pathogenicrs193922305GRCh37Chr 7, 44189615: 44189615
80GCKNM_000162.3(GCK): c.542T> C (p.Val181Ala)single nucleotide variantLikely pathogenicrs193922306GRCh37Chr 7, 44189605: 44189605
81GCKNM_000162.3(GCK): c.563C> T (p.Ala188Val)single nucleotide variantLikely pathogenicrs193922307GRCh37Chr 7, 44189584: 44189584
82GCKNM_000162.3(GCK): c.57C> G (p.Ile19Met)single nucleotide variantLikely pathogenicrs193922308GRCh37Chr 7, 44193051: 44193051
83GCKNM_000162.3(GCK): c.587A> G (p.Glu196Gly)single nucleotide variantLikely pathogenicrs193922309GRCh37Chr 7, 44189451: 44189451
84GCKNM_000162.3(GCK): c.604A> G (p.Met202Val)single nucleotide variantLikely pathogenicrs193922310GRCh37Chr 7, 44189434: 44189434
85GCKNM_000162.3(GCK): c.605T> C (p.Met202Thr)single nucleotide variantLikely pathogenicrs193922311GRCh37Chr 7, 44189433: 44189433
86GCKNM_000162.3(GCK): c.615C> G (p.Asp205Glu)single nucleotide variantLikely pathogenicrs193922312GRCh37Chr 7, 44189423: 44189423
87GCKNM_000162.3(GCK): c.630G> T (p.Met210Ile)single nucleotide variantLikely pathogenicrs193922313GRCh37Chr 7, 44189408: 44189408
88GCKNM_000162.3(GCK): c.635_637delCCT (p.Ser212del)deletionLikely pathogenicrs193922314GRCh37Chr 7, 44189401: 44189403
89GCKNM_000162.3(GCK): c.645C> G (p.Tyr215Ter)single nucleotide variantPathogenicrs144723656GRCh37Chr 7, 44189393: 44189393
90GCKNM_000162.3(GCK): c.658T> C (p.Cys220Arg)single nucleotide variantLikely pathogenicrs193922315GRCh37Chr 7, 44189380: 44189380
91GCKNM_000162.3(GCK): c.659G> A (p.Cys220Tyr)single nucleotide variantLikely pathogenicrs193922316GRCh37Chr 7, 44189379: 44189379
92GCKNM_000162.3(GCK): c.661G> A (p.Glu221Lys)single nucleotide variantLikely pathogenicrs193922317GRCh37Chr 7, 44189377: 44189377
93GCKNM_000162.3(GCK): c.676G> A (p.Val226Met)single nucleotide variantPathogenicrs148311934GRCh37Chr 7, 44189362: 44189362
94GCKNM_000162.3(GCK): c.677T> C (p.Val226Ala)single nucleotide variantLikely pathogenicrs193922319GRCh37Chr 7, 44189361: 44189361
95GCKNM_000162.3(GCK): c.679+1delGdeletionLikely pathogenicrs193922320GRCh37Chr 7, 44189358: 44189358
96GCKNM_000162.3(GCK): c.694G> A (p.Ala232Thr)single nucleotide variantLikely pathogenicrs193922322GRCh37Chr 7, 44187418: 44187418
97GCKNM_000162.3(GCK): c.704T> C (p.Met235Thr)single nucleotide variantLikely pathogenicrs193922323GRCh37Chr 7, 44187408: 44187408
98GCKNM_000162.3(GCK): c.74T> G (p.Leu25Arg)single nucleotide variantLikely pathogenicrs193922325GRCh37Chr 7, 44193034: 44193034
99GCKNM_000162.3(GCK): c.752T> C (p.Met251Thr)single nucleotide variantLikely pathogenicrs193922326GRCh37Chr 7, 44187360: 44187360
100GCKNM_000162.3(GCK): c.758T> C (p.Val253Ala)single nucleotide variantLikely pathogenicrs193921400GRCh37Chr 7, 44187354: 44187354
101GCKNM_000162.3(GCK): c.758T> G (p.Val253Gly)single nucleotide variantLikely pathogenicrs193921400GRCh37Chr 7, 44187354: 44187354
102GCKNM_000162.3(GCK): c.760A> C (p.Asn254His)single nucleotide variantLikely pathogenicrs193922327GRCh37Chr 7, 44187352: 44187352
103GCKNM_000162.3(GCK): c.768G> C (p.Glu256Asp)single nucleotide variantLikely pathogenicrs193922328GRCh37Chr 7, 44187344: 44187344
104GCKNM_000162.3(GCK): c.76C> T (p.Gln26Ter)single nucleotide variantLikely pathogenicrs193922329GRCh37Chr 7, 44193032: 44193032
105GCKNM_000162.3(GCK): c.779T> C (p.Phe260Ser)single nucleotide variantLikely pathogenicrs193922330GRCh37Chr 7, 44187333: 44187333
106GCKNM_000162.3(GCK): c.812T> C (p.Leu271Pro)single nucleotide variantLikely pathogenicrs193922332GRCh37Chr 7, 44187300: 44187300
107GCKNM_000162.3(GCK): c.833A> T (p.Asp278Val)single nucleotide variantLikely pathogenicrs193922333GRCh37Chr 7, 44187279: 44187279
108GCKNM_000162.3(GCK): c.871A> T (p.Lys291Ter)single nucleotide variantPathogenicrs193922335GRCh37Chr 7, 44186210: 44186210
109GCKNM_000162.3(GCK): c.907C> T (p.Arg303Trp)single nucleotide variantLikely pathogenicrs193922336GRCh37Chr 7, 44186174: 44186174
110GCKNM_000162.3(GCK): c.917T> C (p.Leu306Pro)single nucleotide variantLikely pathogenicrs193922337GRCh37Chr 7, 44186164: 44186164
111GCKNM_000162.3(GCK): c.944T> A (p.Leu315His)single nucleotide variantPathogenicrs193922338GRCh37Chr 7, 44186137: 44186137
112GCKNM_000162.3(GCK): c.947T> A (p.Phe316Tyr)single nucleotide variantLikely pathogenicrs193922339GRCh37Chr 7, 44186134: 44186134
113GCKNM_000162.3(GCK): c.952G> T (p.Gly318Trp)single nucleotide variantLikely pathogenicrs193922340GRCh37Chr 7, 44186129: 44186129
114GCKNM_000162.3(GCK): c.971T> C (p.Leu324Pro)single nucleotide variantLikely pathogenicrs193922341GRCh37Chr 7, 44186110: 44186110
115GCKGCK: c.dup_Exon2-6duplicationLikely pathogenic
116HNF4ANM_000457.4(HNF4A): c.1163C> G (p.Pro388Arg)single nucleotide variantLikely pathogenicrs193922469GRCh37Chr 20, 43057008: 43057008
117HNF4ANM_000457.4(HNF4A): c.1253G> C (p.Cys418Ser)single nucleotide variantLikely pathogenicrs193922470GRCh37Chr 20, 43057098: 43057098
118HNF4ANM_000457.4(HNF4A): c.347_348delGGinsC (p.Arg116Thrfs)indelLikely pathogenicrs193922471GRCh37Chr 20, 43036077: 43036078
119HNF4ANM_000457.4(HNF4A): c.427A> G (p.Ser143Gly)single nucleotide variantLikely pathogenicrs193922472GRCh37Chr 20, 43042375: 43042375
120HNF4ANM_000457.4(HNF4A): c.505G> A (p.Val169Ile)single nucleotide variantLikely pathogenicrs142204928GRCh37Chr 20, 43043159: 43043159
121HNF4ANM_000457.4(HNF4A): c.619G> C (p.Ala207Pro)single nucleotide variantLikely pathogenicrs193922474GRCh37Chr 20, 43043273: 43043273
122HNF4ANM_000457.4: c.641_648+10del18deletionLikely pathogenicrs193922475GRCh37Chr 20, 43043295: 43043312
123HNF4ANM_000457.4(HNF4A): c.726_728delGCTinsTCAA (p.Leu243Glnfs)indelLikely pathogenicrs193922476GRCh37Chr 20, 43047142: 43047144
124HNF4ANM_000457.4(HNF4A): c.834G> C (p.Glu278Asp)single nucleotide variantLikely pathogenicrs193922477GRCh37Chr 20, 43048458: 43048458
125HNF4ANM_000457.4(HNF4A): c.991C> T (p.Arg331Cys)single nucleotide variantLikely pathogenicrs193922479GRCh37Chr 20, 43052756: 43052756
126HNF4ANM_000457.4(HNF4A): c.997C> T (p.Arg333Cys)single nucleotide variantLikely pathogenicrs193922480GRCh37Chr 20, 43052762: 43052762
127HNF4AHNF4A: c.del_exon4-10deletionLikely pathogenic
128PDX1NM_000209.3(PDX1): c.442C> G (p.Arg148Gly)single nucleotide variantLikely pathogenicrs193922355GRCh37Chr 13, 28498428: 28498428
129PDX1NM_000209.3(PDX1): c.571A> C (p.Lys191Gln)single nucleotide variantLikely pathogenicrs193922356GRCh37Chr 13, 28498557: 28498557
130PDX1NM_000209.3(PDX1): c.725C> T (p.Pro242Leu)single nucleotide variantLikely pathogenicrs193922358GRCh37Chr 13, 28498711: 28498711
131PDX1NM_000209.3(PDX1): c.773A> G (p.Glu258Gly)single nucleotide variantLikely pathogenicrs193922360GRCh37Chr 13, 28498759: 28498759
132HNF1ANM_000545.5(HNF1A): c.1129delC (p.Leu377Serfs)deletionLikely pathogenicrs193922576GRCh37Chr 12, 121434365: 121434365
133HNF1ANM_000545.5(HNF1A): c.1265T> C (p.Leu422Pro)single nucleotide variantLikely pathogenicrs193922577GRCh37Chr 12, 121434501: 121434501
134HNF1ANM_000545.5(HNF1A): c.130delC (p.Leu44Trpfs)deletionPathogenicrs193922578GRCh37Chr 12, 121416701: 121416701
135HNF1ANM_000545.5(HNF1A): c.1424C> T (p.Pro475Leu)single nucleotide variantLikely pathogenicrs193922580GRCh37Chr 12, 121435391: 121435391
136HNF1ANM_000545.5(HNF1A): c.1506_1507dupCT (p.Tyr503Serfs)duplicationLikely pathogenicrs193922582GRCh37Chr 12, 121437076: 121437077
137HNF1ANM_000545.5(HNF1A): c.1663C> T (p.Leu555Phe)single nucleotide variantLikely pathogenicrs193922587GRCh37Chr 12, 121437325: 121437325
138HNF1ANM_000545.5(HNF1A): c.169delC (p.Leu57Trpfs)deletionLikely pathogenicrs193922588GRCh37Chr 12, 121416740: 121416740
139HNF1ANM_000545.5(HNF1A): c.1745A> G (p.His582Arg)single nucleotide variantLikely pathogenicrs193922589GRCh37Chr 12, 121437407: 121437407
140HNF1ANM_000545.5(HNF1A): c.1854C> G (p.Ile618Met)single nucleotide variantLikely pathogenicrs193922591GRCh37Chr 12, 121438953: 121438953
141HNF1ANM_000545.5(HNF1A): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs193922592GRCh37Chr 12, 121416572: 121416572
142HNF1ANM_000545.5(HNF1A): c.281C> T (p.Pro94Leu)single nucleotide variantLikely pathogenicrs193922593GRCh37Chr 12, 121416852: 121416852
143HNF1ANM_000545.5(HNF1A): c.313dupG (p.Glu105Glyfs)duplicationLikely pathogenicrs193922594GRCh37Chr 12, 121416884: 121416885
144HNF1ANM_000545.5(HNF1A): c.375_377dupGCA (p.Gln125_His126insGln)duplicationLikely pathogenicrs193922596GRCh37Chr 12, 121426684: 121426686
145HNF1ANM_000545.5(HNF1A): c.441C> A (p.His147Gln)single nucleotide variantLikely pathogenicrs193922597GRCh37Chr 12, 121426750: 121426750
146HNF1ANM_000545.5(HNF1A): c.467C> T (p.Thr156Met)single nucleotide variantLikely pathogenicrs150513055GRCh37Chr 12, 121426776: 121426776
147HNF1ANM_000545.5(HNF1A): c.518_526+37del46deletionLikely pathogenicrs386134267GRCh37Chr 12, 121426827: 121426872
148HNF1ANM_000545.5(HNF1A): c.598C> T (p.Arg200Trp)single nucleotide variantLikely pathogenicrs193922598GRCh37Chr 12, 121431394: 121431394
149HNF1ANM_000545.5(HNF1A): c.666_668delGAA (p.Lys222del)deletionLikely pathogenicrs193922599GRCh37Chr 12, 121431462: 121431464
150HNF1ANM_000545.5(HNF1A): c.670C> T (p.Pro224Ser)single nucleotide variantLikely pathogenicrs193922600GRCh37Chr 12, 121431466: 121431466
151HNF1ANM_000545.5(HNF1A): c.731G> T (p.Arg244Ile)single nucleotide variantLikely pathogenicrs193922602GRCh37Chr 12, 121431984: 121431984
152HNF1ANM_000545.5(HNF1A): c.734G> T (p.Gly245Val)single nucleotide variantLikely pathogenicrs193922603GRCh37Chr 12, 121431987: 121431987
153HNF1ANM_000545.5(HNF1A): c.790G> T (p.Val264Phe)single nucleotide variantLikely pathogenicrs193922604GRCh37Chr 12, 121432043: 121432043
154HNF1ANM_000545.5(HNF1A): c.803T> C (p.Phe268Ser)single nucleotide variantLikely pathogenicrs193922605GRCh37Chr 12, 121432056: 121432056
155HNF1ANM_000545.5(HNF1A): c.827C> G (p.Ala276Gly)single nucleotide variantLikely pathogenicrs137853245GRCh37Chr 12, 121432080: 121432080
156HNF1ANM_000545.5(HNF1A): c.872C> G (p.Pro291Arg)single nucleotide variantLikely pathogenicrs193922606GRCh37Chr 12, 121432125: 121432125
157HNF1ANM_000545.5(HNF1A): c.965A> G (p.Tyr322Cys)single nucleotide variantLikely pathogenicrs140491072GRCh37Chr 12, 121434074: 121434074
158KLF11NM_003597.4(KLF11): c.1039G> T (p.Ala347Ser)single nucleotide variantPathogenicrs121912645GRCh37Chr 2, 10188503: 10188503
159KLF11NM_003597.4(KLF11): c.659C> T (p.Thr220Met)single nucleotide variantPathogenicrs34336420GRCh37Chr 2, 10188123: 10188123
160PDX1PDX1, 1-BP DEL, 188CdeletionPathogenic
161PDX1NM_000209.3(PDX1): c.226G> A (p.Asp76Asn)single nucleotide variantrisk factorrs137852783GRCh37Chr 13, 28494501: 28494501
162HNF4ANM_000457.4(HNF4A): c.829C> T (p.Gln277Ter)single nucleotide variantPathogenicrs137853334GRCh37Chr 20, 43048453: 43048453
163HNF4ANM_000457.4(HNF4A): c.487C> T (p.Arg163Ter)single nucleotide variantPathogenicrs137853335GRCh37Chr 20, 43042435: 43042435
164HNF4ANM_000457.4(HNF4A): c.406C> T (p.Arg136Trp)single nucleotide variantPathogenicrs137853336GRCh37Chr 20, 43042354: 43042354
165HNF4AHNF4A, 1-BP DEL, PHE75TdeletionPathogenic
166HNF4AHNF4A, IVS5, DEL A, -2deletionPathogenic
167HNF4ANM_000457.4(HNF4A): c.1118T> G (p.Met373Arg)single nucleotide variantPathogenicrs137853338GRCh37Chr 20, 43052883: 43052883

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

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

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

About this section

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

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1HNF4A, HNF1A
2
Show member pathways
10.0KCNJ11, ABCC8
3
Show member pathways
9.9ABCC8, KCNJ11, INS
49.8ISL1, NEUROD1, HNF4A
59.8FOXA2, ISL1, INS
6
Show member pathways
9.5ABCC8, KCNJ11, INS, PDX1, GCK
7
Show member pathways
9.5INS, NEUROD1, FOXA2, HNF4A, GCK
89.3INS, NEUROD1, FOXA2, HNF1A, HNF4A, PDX1
9
Show member pathways
9.0ABCC8, KCNJ11, INS, CEL, PCBD1, GCKR
109.0GCK, PDX1, HNF4A, HNF1A, FOXA2, INS
11
Show member pathways
8.8FOXA2, NEUROD1, PAX4, INS, HNF1B, HNF1A
12
Show member pathways
8.8INS, PAX4, NEUROD1, FOXA2, HNF1B, HNF1A
13
Show member pathways
8.5GCK, PDX1, HNF4A, HNF1A, HNF1B, NEUROD1

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

About this section

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

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1chromium picolinate4310.5GCK, INS
2mannitol-1-phosphate4310.5GCKR, GCK
3mannoheptulose4310.5GCKR, GCK
4nnmt4310.4HNF1B, HNF1A
5cibenzoline4310.4ABCC8, KCNJ11
6pcbd4310.4PCBD1, HNF1A
7meglitinide4310.4INS, ABCC8
8preproinsulin4310.4GCK, PDX1, INS
9i-app4310.4INS, PDX1, GCK
10incretin4310.4INS, PDX1, GCK
11fructose 1-phosphate43 2411.4GCKR, GCK
12mitiglinide43 1211.4INS, ABCC8
13proglucagon4310.3GCK, PDX1, ISL1
14nicorandil43 2811.3ABCC8, KCNJ11
15streptozotocin4310.3INS, PDX1, GCK
16mgadp4310.3KCNJ11, ABCC8
17phosphoenolpyruvate43 1211.3GCK, HNF4A, HNF1A
18gliclazide43 49 1212.3ABCC8, KCNJ11, INS
19glimepiride43 49 1212.3INS, KCNJ11, ABCC8
20glipizide43 49 1212.2INS, ABCC8
21chlorpropamide43 49 1212.2ABCC8, INS
22nicotinamide43 1211.2INS, HNF1B, PDX1
23pyruvate4310.2HNF1A, HNF4A, PDX1, GCK
24glibenclamide43 28 49 5913.2ABCC8, KCNJ11, INS
25cromakalim43 2811.2ABCC8, KCNJ11
26diazoxide43 59 28 1213.1ABCC8, KCNJ11, INS, GCK
27glycerol43 24 1212.1INS, CEL, HNF4A, GCK
28myristic acid43 24 1212.1HNF4A, CEL, INS
29metformin43 49 1212.1GCK, INS, KCNJ11, ABCC8
30minoxidil43 28 1212.0ABCC8, KCNJ11
31fructose-6-phosphate43 1211.0GCKR, GCK
32tolbutamide43 28 49 1213.0ABCC8, KCNJ11, INS, HNF1A, GCK
33uric acid43 2411.0INS, HNF1B, GCKR
34repaglinide49 43 1211.9ABCC8, KCNJ11, INS, PAX4, NEUROD1
35leucine439.9ABCC8, KCNJ11, HNF1A, HNF4A, GCK
36sulfonylurea439.8ABCC8, KCNJ11, INS, HNF1A, PDX1, GCK
37potassium43 24 1211.8GCK, HNF1A, KCNJ11, ABCC8
38oligonucleotide439.8CEL, HNF1B, HNF1A, HNF4A, PDX1, GCK
39glutamine439.8GCK, HNF4A, HNF1A, KCNJ11
40katp439.7ABCC8, KCNJ11, INS, FOXA2, PDX1, GCK
41arginine439.6ABCC8, KCNJ11, INS, HNF1B, HNF4A, GCK
42c-peptide439.6KCNJ11, INS, FOXA2, HNF1A, HNF4A, PDX1
43retinoic acid43 2410.6NEUROD1, HNF1B, HNF1A, HNF4A, PDX1, GCK
44fatty acid439.6ABCC8, INS, CEL, FOXA2, HNF1A, HNF4A
45cholesterol43 28 24 1212.6ABCC8, INS, CEL, HNF1B, HNF1A, HNF4A
46lipid439.5ABCC8, INS, CEL, HNF1A, HNF4A, GCKR
47glycogen43 2410.4PPP1R3B, ABCC8, INS, FOXA2, HNF4A, GCKR
48calcium43 49 24 1212.2ABCC8, BLK, KCNJ11, NEUROD1, CEL, HNF4A
49glutamate439.2ABCC8, KCNJ11, INS, HNF4A, GCK
50glucose438.1GCK, ABCC8, KCNJ11, INS, ISL1, PAX4

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056549.5GCK, GCKR, HNF4A, NEUROD1, PAX4

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:005159410.5GCK, PDX1
2negative regulation of gluconeogenesisGO:004572110.4GCK, INS
3regulation of pronephros sizeGO:003556510.4HNF1A, HNF1B
4positive regulation of glycolytic processGO:004582110.4GCK, INS
5cellular glucose homeostasisGO:000167810.3GCK, GCKR
6positive regulation of transcription initiation from RNA polymerase II promoterGO:006026110.3HNF1A, HNF1B
7negative regulation of glucokinase activityGO:003313210.3FOXA2, GCKR
8positive regulation of glycogen biosynthetic processGO:004572510.3GCK, INS
9positive regulation of cell differentiationGO:004559710.3INS, PAX4, NEUROD1
10glucose transportGO:001575810.2INS, GCKR, GCK
11signal transduction involved in regulation of gene expressionGO:002301910.2HNF4A, FOXA2, NEUROD1
12nitric oxide mediated signal transductionGO:000726310.2PDX1, NEUROD1
13neuron fate specificationGO:004866510.1FOXA2, ISL1
14response to glucoseGO:000974910.1HNF4A, HNF1B, NEUROD1
15positive regulation of insulin secretionGO:003202410.1BLK, ISL1, PDX1, GCK
16insulin secretionGO:003007310.1PDX1, HNF1A, HNF1B, NEUROD1
17cellular response to glucose stimulusGO:007133310.1NEUROD1, KCNJ11
18triglyceride homeostasisGO:007032810.1HNF4A, GCKR
19energy reserve metabolic processGO:000611210.1ABCC8, KCNJ11, INS
20glucose metabolic processGO:000600610.0KCNJ11, INS, PDX1
21response to drugGO:004249310.0KCNJ11, PAX4, NEUROD1, PDX1
22positive regulation of DNA bindingGO:004338810.0ISL1, PDX1
23regulation of glucose transportGO:00108279.8GCK, GCKR
24regulation of insulin secretionGO:00507969.7ABCC8, KCNJ11, INS, NEUROD1, HNF4A, GCK
25negative regulation of transcription from RNA polymerase II promoterGO:00001229.6ISL1, PAX4, FOXA2, HNF1B, PDX1, KLF11
26glucose homeostasisGO:00425939.6INS, NEUROD1, FOXA2, HNF1A, HNF4A, PDX1
27positive regulation of transcription, DNA-templatedGO:00458939.5NEUROD1, FOXA2, PCBD1, HNF1B, HNF1A, HNF4A
28positive regulation of transcription from RNA polymerase II promoterGO:00459449.4ISL1, NEUROD1, FOXA2, HNF1B, HNF1A, HNF4A
29small molecule metabolic processGO:00442819.3ABCC8, KCNJ11, INS, CEL, PCBD1, GCKR
30endocrine pancreas developmentGO:00310189.3GCK, INS, PAX4, NEUROD1, FOXA2, HNF1B

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription coactivator activityGO:000110510.0NEUROD1, ISL1
2RNA polymerase II activating transcription factor bindingGO:00011029.9HNF4A, NEUROD1, ISL1
3RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.8HNF4A, HNF1B, FOXA2
4double-stranded DNA bindingGO:00036909.8PAX4, NEUROD1, FOXA2
5transcription regulatory region DNA bindingGO:00442129.6FOXA2, HNF1B, HNF1A, HNF4A, KLF11
6sequence-specific DNA bindingGO:00435659.6PAX4, NEUROD1, HNF1B, HNF1A, HNF4A
7protein heterodimerization activityGO:00469829.4PDX1, HNF1A, HNF1B, NEUROD1
8sequence-specific DNA binding transcription factor activityGO:00037008.9KLF11, ISL1, PAX4, NEUROD1, FOXA2, HNF1B

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Maturity-Onset Diabetes of the Young

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet