GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Maturity onset diabetes mellitus in young ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 Biomarker disease HPO
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE This secretory profile is different from those for NIDDM with late age of onset or MODY not linked to GCK. 1354782 1992
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE The discovery that glucokinase mutations can cause MODY and was also found in ten affected members of a pedigree with type 2 diabetes in which MODY had not previously been considered indicates that diagnosis based on molecular pathology will be helpful in understanding the aetiology of type 2 diabetes. 1303265 1992
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE This is not universal in MODY since linkage to the glucokinase locus was excluded in a second pedigree M (lod score = -7.36 at theta = 0). 1349989 1992
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 Biomarker disease BEFREE The only mutation so far discovered is of glucokinase producing maturity-onset diabetes of the young, that has a clearly defined and unusual phenotype. 1485947 1992
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Mutations in the glucokinase gene have been identified recently in patients with maturity-onset diabetes of the young, a subtype of NIDDM. 8325443 1993
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE These include the characterization of mutations in the glucokinase gene in maturity onset diabetes of the young, localization to chromosome 2 of a gene involved in familial colon cancer, and localization to chromosome 19 of a gene responsible for hemiplegic migraine. 7764464 1993
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Mutations of the glucokinase gene have been reported in Caucasian pedigrees with maturity-onset diabetes of the young and late-onset Type 2 diabetes. 8261750 1993
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young. 8376578 1993
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Diabetic families with mutations in glucokinase must be carefully investigated, to differentiate cryptic maturity-onset diabetes of the young from late-onset NIDDM. 8349034 1993
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Mutations in glucokinase are the primary cause of hyperglycemia in a substantial fraction of French patients with maturity-onset diabetes of the young and result in a relatively mild form of NIDDM that can be diagnosed in childhood. 8433729 1993
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Mutations of the glucokinase gene have been implicated in the development of glucose intolerance in pedigrees with maturity-onset diabetes of the young. 8359581 1993
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 Biomarker disease BEFREE Glucokinase defects have recently been implicated in maturity-onset diabetes of the young. 8458527 1993
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique. 8168652 1994
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Nonradioactive screening of glucokinase mutations in maturity onset diabetes of the young. 8068341 1994
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Although mutations in the glucokinase gene are implicated in the pathogenesis of glucose intolerance in pedigrees with maturity-onset diabetes of the young, the role of such mutations in typical Type 2 diabetes is poorly characterized. 8200207 1994
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE MODY due to mutations in the glucokinase gene is a relatively mild form of diabetes with mild fasting hyperglycemia and IGT in the majority. 8035658 1994
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Glucokinase mutations appear to be the most common cause of MODY in the European population, being found in 60% of the families investigated. 7951673 1994
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 Biomarker disease BEFREE Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase. 8591819 1995
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 Biomarker disease BEFREE We have studied 12 families in which MODY is unlinked to either glucokinase or chromosome 20q markers, and find significant evidence for linkage with microsatellite markers on chromosome 12q, most likely within a 7 centimogran interval bracketed by D12S86 and D12S342. 7795649 1995
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE Mutation of the glucokinase gene has recently been identified as a cause of maturity-onset diabetes of the young (MODY), a subset of non-insulin-dependent diabetes mellitus (NIDDM). 8745202 1995
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 GeneticVariation disease BEFREE The clinical characteristics of subjects with a missense glucokinase mutation, gly299-->arg, were studied in a large pedigree, BX, initially characterized by some members having Maturity Onset Diabetes of the Young (MODY). 7758256 1995
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.700 Biomarker disease BEFREE These findings demonstrate a key role for glucokinase in glucose homeostasis and implicate both islets and liver in the MODY disease. 7665557 1995