Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. 17573900

2007

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Diabetes mutations delineate an atypical POU domain in HNF-1alpha. 12453420

2002

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha. 10966642

2000

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY. 10588527

1999

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins. 10078571

1999

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT 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

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing. 10482964

1999

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10. 9626139

1998

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. 9754819

1998

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Novel mutations and a mutational hotspot in the MODY3 gene. 9166684

1997

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young). 9392505

1997

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT 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

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT We have examined 10 unrelated Caucasian families in which MODY/NIDDM co-segregated with markers for MODY3 for mutations in the HNF-1alpha gene (TCF1). 9097962

1997

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT 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: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. 9287053

1997

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. 9075819

1997

Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
1.000 GeneticVariation UNIPROT Here we show that subjects with the MODY3-form of NIDDM have mutations in the gene encoding hepatocyte nuclear factor-1alpha (HNF-1alpha, which is encoded by the gene TCF1). 8945470

1996