HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Insulin Receptor, Defect in ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271689
Disease: Insulin Receptor, Defect in
Insulin Receptor, Defect in 		0.010 GeneticVariation disease BEFREE Only a minority of cases of type 2 diabetes are caused by a single-gene defect, such as maturity-onset diabetes of youth (mutated MODY gene), syndrome of insulin resistance (insulin receptor defect), and maternally inherited diabetes and deafness (mitochondrial gene defect). 10793405 2000