Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		0.700 CausalMutation disease CLINVAR Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. 23348805 2013
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		0.700 CausalMutation disease CLINVAR Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 19150152 2009
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		0.700 CausalMutation disease CLINVAR 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. 18003757 2008
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		0.700 CausalMutation disease CLINVAR Homeodomain revisited: a lesson from disease-causing mutations. 15726414 2005
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		0.700 CausalMutation disease CLINVAR Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences. 11463573 2001
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		0.700 CausalMutation disease CLINVAR Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. 11058894 2000
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		0.700 CausalMutation disease CLINVAR Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations. 10585442 1999
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		0.700 CausalMutation disease CLINVAR Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 9313763 1997
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		0.700 CausalMutation disease CLINVAR Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. 9032114 1997
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. 25015100 2014
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. 22493702 2012
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. 22611063 2012
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. 22035297 2012
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 CausalMutation disease CLINVAR Insight into the biochemical characteristics of a novel glucokinase gene mutation. 21104275 2011
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. 20337973 2010
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 19150152 2009
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256 2009
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients. 19358091 2009
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 CausalMutation disease CLINVAR Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256 2009
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 CausalMutation disease CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519 2009
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. 19564454 2009
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 CausalMutation disease CLINVAR Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. 18399931 2008
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Six novel mutations in the GCK gene in MODY patients. 17204055 2007
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 GeneticVariation disease CLINVAR Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. 17573900 2007
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.500 CausalMutation disease CLINVAR Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 16965331 2006