HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. 31875549 2019
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 CausalMutation disease CLINVAR Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. 28458902 2017
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 CausalMutation disease CLINVAR Fainting Fanconi syndrome clarified by proxy: a case report. 28693455 2017
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 Biomarker disease GENOMICS_ENGLAND Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. 28242437 2017
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 CausalMutation disease CLINVAR Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. 27245055 2016
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 CausalMutation disease CLINVAR Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction. 25819479 2015
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 Biomarker disease GENOMICS_ENGLAND Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction. 25819479 2015
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 GeneticVariation disease UNIPROT The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 24285859 2014
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 CausalMutation disease CLINVAR The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 24285859 2014
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 Biomarker disease GENOMICS_ENGLAND Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 22802087 2012
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 GeneticVariation disease UNIPROT Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 22802087 2012
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 CausalMutation disease CLINVAR Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. 20164212 2010
CUI: C4014962
Disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.700 Biomarker disease CTD_human