F12, coagulation factor XII, 2161

N. diseases: 87; N. variants: 22
Disease: Airway Obstruction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001883
Disease: Airway Obstruction
Airway Obstruction 		0.010 GeneticVariation group BEFREE Hereditary angioedema with normal C1 esterase inhibitor and mutations in the F12 gene (HAE-FXII) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction.It occurs nearly exclusively in women. 27905115 2017