rs76863441, PLA2G7

N. diseases: 25
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Platelet-Activating Factor Acetylhydrolase Deficiency
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 GeneticVariation UNIPROT A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension. 9759612 1998
Platelet-Activating Factor Acetylhydrolase Deficiency
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 GeneticVariation UNIPROT Identification of the G994--> T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary artery disease in Japanese men. 9472966 1998
Platelet-Activating Factor Acetylhydrolase Deficiency
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 GeneticVariation UNIPROT A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke. 9412624 1997
Platelet-Activating Factor Acetylhydrolase Deficiency
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 GeneticVariation UNIPROT Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation. 9245731 1997
Platelet-Activating Factor Acetylhydrolase Deficiency
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 GeneticVariation UNIPROT Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase. 8675689 1996
Platelet-Activating Factor Acetylhydrolase Deficiency
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 SusceptibilityMutation CLINVAR
Platelet-Activating Factor Acetylhydrolase Deficiency
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
0.800 CausalMutation CLINVAR