HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Fanconi Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780813696
rs780813696
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C0015624
Disease:
Fanconi Syndrome 		0.020 GeneticVariation BEFREE The HNF4A p.R76W mutation causes congenital hyperinsulinism with Fanconi syndrome. 25819479 2015
dbSNP: rs780813696
rs780813696
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C0015624
Disease:
Fanconi Syndrome 		0.020 GeneticVariation BEFREE The HNF4A R76W mutation is an unusual example of a mutation specific phenotype, with autosomal dominant atypical Fanconi syndrome in addition to the established beta cell phenotype. 24285859 2014