Gene: HNF4A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		0.030 GeneticVariation disease BEFREE The p.R63W mutation in the hepatocyte nuclear factor-4 alpha (HNF4A) results in macrosomia and atypical Fanconi syndrome, in addition to hyperinsulinaemic hypoglycaemia (HI). 27245055 2016
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		0.030 GeneticVariation disease BEFREE The HNF4A p.R76W mutation causes congenital hyperinsulinism with Fanconi syndrome. 25819479 2015
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		0.030 GeneticVariation disease BEFREE We report six patients heterozygous for the p.R76W HNF4A mutation who have Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. 24285859 2014