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
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C4014962
Disease:
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		T 0.800 CausalMutation CLINVAR Fainting Fanconi syndrome clarified by proxy: a case report. 28693455 2017
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C4014962
Disease:
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		T 0.800 CausalMutation CLINVAR Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. 28458902 2017
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C4014962
Disease:
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		T 0.800 CausalMutation CLINVAR Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. 27245055 2016
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C4014962
Disease:
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		T 0.800 CausalMutation CLINVAR Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction. 25819479 2015
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C4014962
Disease:
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.800 GeneticVariation UNIPROT The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 24285859 2014
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C4014962
Disease:
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		T 0.800 CausalMutation CLINVAR The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 24285859 2014
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C4014962
Disease:
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		0.800 GeneticVariation UNIPROT Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 22802087 2012
dbSNP: rs587777732
rs587777732
Entrez Id: 3172;100500813
Gene Symbol: HNF4A;MIR3646
HNF4A;MIR3646
CUI: C4014962
Disease:
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 		T 0.800 CausalMutation CLINVAR Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. 20164212 2010