PLA2G7, phospholipase A2 group VII, 7941

N. diseases: 136; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		0.700 Biomarker disease HPO
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		0.700 SusceptibilityMutation disease CLINVAR
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		0.700 Biomarker disease CTD_human
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		0.700 CausalMutation disease CLINVAR
CUI: C0004096
Disease: Asthma
Asthma 		0.430 Biomarker disease HPO
CUI: C1840253
Disease: IgE RESPONSIVENESS, ATOPIC
IgE RESPONSIVENESS, ATOPIC 		0.300 Biomarker disease CTD_human
CUI: C0013595
Disease: Eczema
Eczema 		0.100 Biomarker disease HPO
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.100 Biomarker disease HPO
CUI: C4016754
Disease: ASTHMA AND ATOPY, SUSCEPTIBILITY TO
ASTHMA AND ATOPY, SUSCEPTIBILITY TO 		0.100 SusceptibilityMutation phenotype CLINVAR
CUI: C4073143
Disease: Increased level of platelet-activating factor
Increased level of platelet-activating factor 		0.100 Biomarker phenotype HPO
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		0.700 GeneticVariation disease UNIPROT Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase. 8675689 1996
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.300 Biomarker group CTD_human Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase. 8675689 1996
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.200 Biomarker group RGD Changes in glycerophospholipid profile in experimental nephrotic syndrome. 8692015 1996
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		0.700 GeneticVariation disease UNIPROT Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation. 9245731 1997
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.500 GeneticVariation disease BEFREE Determination of the DNA sequence of exon 9 of the plasma PAF acetylhydrolase gene in these eight subjects revealed a previously unidentified A1001-->G missense mutation, resulting in a Gln281-->Arg substitution, in a 72-year-old woman with coronary artery disease, essential hypertension, and no plasma enzyme activity. 9245731 1997
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.100 GeneticVariation disease BEFREE Determination of the DNA sequence of exon 9 of the plasma PAF acetylhydrolase gene in these eight subjects revealed a previously unidentified A1001-->G missense mutation, resulting in a Gln281-->Arg substitution, in a 72-year-old woman with coronary artery disease, essential hypertension, and no plasma enzyme activity. 9245731 1997
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 GeneticVariation disease BEFREE Determination of the DNA sequence of exon 9 of the plasma PAF acetylhydrolase gene in these eight subjects revealed a previously unidentified A1001-->G missense mutation, resulting in a Gln281-->Arg substitution, in a 72-year-old woman with coronary artery disease, essential hypertension, and no plasma enzyme activity. 9245731 1997
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		0.020 AlteredExpression disease BEFREE We measured the total serum and high-density lipoprotein (HDL) levels of PAF-AH activity and studied the distribution of PAF-AH activity among three LDL subfractions isolated by gradient ultracentrifugation in 15 patients with heterozygous FH and 13 normolipidaemic control subjects. 9263748 1997
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.020 AlteredExpression disease BEFREE Plasma PAF-AH activity cosegregated with plasma LDL-C concentrations in familial hypercholesterolemia, but not in familial hypobetalipoproteinemia. 9392426 1997
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.020 AlteredExpression disease BEFREE Plasma PAF-AH activity cosegregated with plasma LDL-C concentrations in familial hypercholesterolemia, but not in familial hypobetalipoproteinemia. 9392426 1997
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.010 AlteredExpression disease BEFREE Plasma PAF-AH activity cosegregated with plasma LDL-C concentrations in familial hypercholesterolemia, but not in familial hypobetalipoproteinemia. 9392426 1997
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.010 AlteredExpression disease BEFREE Plasma PAF-AH activity cosegregated with plasma LDL-C concentrations in familial hypercholesterolemia, but not in familial hypobetalipoproteinemia. 9392426 1997
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		0.700 GeneticVariation disease UNIPROT A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke. 9412624 1997
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.400 GeneticVariation group BEFREE A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke. 9412624 1997