F5, coagulation factor V, 2153

N. diseases: 369; N. variants: 52
Disease: Nonarteritic anterior ischemic optic neuropathy (NAION) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852242
Disease: Nonarteritic anterior ischemic optic neuropathy (NAION)
Nonarteritic anterior ischemic optic neuropathy (NAION) 		0.010 GeneticVariation disease BEFREE In a 12-member, 3-generation kindred with conjoint inheritance of G1691A factor V Leiden (FVL) and G20210A prothrombin gene (PTG) mutations, identified through a proband with amaurosis fugax and his father with nonarteritic ischemic optic neuropathy (NAION), the authors' hypothesis was that ocular thrombosis was a diagnostic window to familial thrombophilia-thrombosis. 18796459 2009