DisGeNET - a database of gene-disease associations

PIGA, phosphatidylinositol glycan anchor biosynthesis class A, 5277

N. diseases: 140; N. variants: 21

Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 ×

Variant: rs34422225 ×

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:

rs34422225

Entrez Id:	5277
Gene Symbol:	PIGA

PIGA

CUI:	C3806670
Disease:

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1

0.700

GeneticVariation

UNIPROT

Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria.

12037021

2002

dbSNP:

rs34422225

Entrez Id:	5277
Gene Symbol:	PIGA

PIGA

CUI:	C3806670
Disease:

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1

0.700

GeneticVariation

UNIPROT

The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications.

10087994

1998

dbSNP:

rs34422225

Entrez Id:	5277
Gene Symbol:	PIGA

PIGA

CUI:	C3806670
Disease:

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1

0.700

GeneticVariation

UNIPROT

Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.

8167330

1994

dbSNP:

rs34422225

Entrez Id:	5277
Gene Symbol:	PIGA

PIGA

CUI:	C3806670
Disease:

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1

0.700

GeneticVariation

UNIPROT

Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

8306954

1994

dbSNP:

rs34422225

Entrez Id:	5277
Gene Symbol:	PIGA

PIGA

CUI:	C3806670
Disease:

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1

0.700

GeneticVariation

UNIPROT

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.

8500164

1993