HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Factor VII Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.030 GeneticVariation disease BEFREE Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site. 22628013 2012
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.030 Biomarker disease BEFREE Mutation in the factor VII hepatocyte nuclear factor 4α-binding site contributes to factor VII deficiency. 21760481 2011
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.030 GeneticVariation disease BEFREE A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency. 11110717 2000