Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.120 GeneticVariation disease BEFREE Analysis of the adult Hnf4a mutant kidney also showed proximal tubule dysgenesis and nephrocalcinosis. 30046000 2018
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
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
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
0.120 Biomarker disease HPO