DisGeNET - a database of gene-disease associations

PLA2G7, phospholipase A2 group VII, 7941

N. diseases: 136; N. variants: 11

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C3280315
Disease:

Platelet-Activating Factor Acetylhydrolase Deficiency

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C3280315
Disease:

Platelet-Activating Factor Acetylhydrolase Deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs1051931

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C4016754
Disease:

ASTHMA AND ATOPY, SUSCEPTIBILITY TO

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs1805018

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C4016754
Disease:

ASTHMA AND ATOPY, SUSCEPTIBILITY TO

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs201899866

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C3280315
Disease:

Platelet-Activating Factor Acetylhydrolase Deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs201899866

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C3280315
Disease:

Platelet-Activating Factor Acetylhydrolase Deficiency

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

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

dbSNP:

rs201256712

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C3280315
Disease:

Platelet-Activating Factor Acetylhydrolase Deficiency

0.700

GeneticVariation

UNIPROT

Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase.

8675689

1996

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

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

dbSNP:

rs201256712

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C3280315
Disease:

Platelet-Activating Factor Acetylhydrolase Deficiency

0.700

GeneticVariation

UNIPROT

Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation.

9245731

1997

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

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

dbSNP:

rs201256712

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C3280315
Disease:

Platelet-Activating Factor Acetylhydrolase Deficiency

0.700

GeneticVariation

UNIPROT

A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke.

9412624

1997

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C0038454
Disease:

Cerebrovascular accident

0.020

GeneticVariation

BEFREE

A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke.

9412624

1997

dbSNP:

rs1051931

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C0036341
Disease:

Schizophrenia

0.020

GeneticVariation

BEFREE

The variant in exon 7 (Iso195Thr) was found to be weakly associated with schizophrenia (p = 0.04) and the variant in exon 11 (Val379Ala) almost reached significance (p = 0.057).

9434759

1997

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

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

dbSNP:

rs201256712

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C3280315
Disease:

Platelet-Activating Factor Acetylhydrolase Deficiency

0.700

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

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

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

dbSNP:

rs201256712

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C3280315
Disease:

Platelet-Activating Factor Acetylhydrolase Deficiency

0.700

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

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C0020538
Disease:

Hypertensive disease

0.010

GeneticVariation

BEFREE

A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension.

9759612

1998

dbSNP:

rs1051931

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C0004096
Disease:

Asthma

0.010

GeneticVariation

BEFREE

The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma.

10733466

2000

dbSNP:

rs1805018

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C0004096
Disease:

Asthma

0.010

GeneticVariation

BEFREE

The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma.

10733466

2000

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C4551472
Disease:

Hypertrophic obstructive cardiomyopathy

0.010

GeneticVariation

BEFREE

Association of a G994 --> T (Val279 --> Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy.

11501940

2001

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.010

GeneticVariation

BEFREE

These results suggest that the G994 --> T (Val279 --> Phe) polymorphism in the plasma PAF-AH gene may exacerbate cardiac damage in Japanese individuals with nonfamilial HCM, although this polymorphism is unlikely to be a causative factor for this condition.

11501940

2001

dbSNP:

rs76863441

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C0010073
Disease:

Coronary Artery Vasospasm

0.010

GeneticVariation

BEFREE

We therefore examined the possible association between the PON1 Q192R or PAF-AH V279F polymorphisms and coronary spasm in 214 patients with coronary spasm and 212 control subjects.

11810302

2002

dbSNP:

rs1051931

Entrez Id:	7941
Gene Symbol:	PLA2G7

PLA2G7

CUI:	C0036341
Disease:

Schizophrenia

0.020

GeneticVariation

BEFREE

A previous study showed weak associations of the Ile198Thr and Val379Ala polymorphisms of this gene with schizophrenia that did not reach statistical significance after correction for multiple comparisons.

11850055

2002