rs137853238, HNF1A

N. diseases: 6
Disease: Hyperglycemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 19150152 2009
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Homeodomain revisited: a lesson from disease-causing mutations. 15726414 2005
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation 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
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations. 10585442 1999
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 9313763 1997
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation 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