F12, coagulation factor XII, 2161

N. diseases: 87; N. variants: 22
Disease: Hereditary factor XII deficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272334
Disease: Hereditary factor XII deficiency disease
Hereditary factor XII deficiency disease 		0.010 GeneticVariation disease BEFREE Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg. 28007010 2017