HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Nephrocalcinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.120 GeneticVariation disease BEFREE Analysis of the adult Hnf4a mutant kidney also showed proximal tubule dysgenesis and nephrocalcinosis. 30046000 2018
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.120 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
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.120 Biomarker disease HPO