Gene: HNF4A ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		1.000 Biomarker disease GENOMICS_ENGLAND Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. 28242437 2017
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		1.000 Biomarker disease GENOMICS_ENGLAND The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 24285859 2014
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		1.000 Biomarker disease GENOMICS_ENGLAND Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 22802087 2012
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		1.000 Biomarker disease CTD_human Identification of 9-cis-retinoic acid as a pancreas-specific autacoid that attenuates glucose-stimulated insulin secretion. 21115832 2010
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		1.000 GeneticVariation disease UNIPROT Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 17407387 2007
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		1.000 GeneticVariation disease UNIPROT Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q). 10389854 1999
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		1.000 GeneticVariation disease UNIPROT Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY. 9313765 1997
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		1.000 GeneticVariation disease UNIPROT A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. 9243109 1997
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		1.000 Biomarker disease GENOMICS_ENGLAND