HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555815393
rs1555815393
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 24285859 2014
dbSNP: rs1555815393
rs1555815393
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Clinical features and treatment of maturity onset diabetes of the young (MODY). 22654519 2012
dbSNP: rs1555815393
rs1555815393
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 22802087 2012
dbSNP: rs1555815393
rs1555815393
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 17407387 2007
dbSNP: rs1555815393
rs1555815393
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 11575290 2001
dbSNP: rs1555815393
rs1555815393
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. 9371825 1997
dbSNP: rs1555815393
rs1555815393
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) 8945471 1996