DisGeNET - a database of gene-disease associations

PIGS, phosphatidylinositol glycan anchor biosynthesis class S, 94005

N. diseases: 45; N. variants: 5

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:

rs1426262136

Entrez Id:	94005
Gene Symbol:	PIGS

PIGS

CUI:	C4748357
Disease:

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18

0.800

GeneticVariation

CLINVAR

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

30269814

2018

dbSNP:

rs1426262136

Entrez Id:	94005
Gene Symbol:	PIGS

PIGS

CUI:	C4748357
Disease:

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18

0.800

GeneticVariation

UNIPROT

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

30269814

2018

dbSNP:

rs1426262136

Entrez Id:	94005
Gene Symbol:	PIGS

PIGS

CUI:	C4748357
Disease:

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18

0.800

CausalMutation

CLINVAR

dbSNP:

rs1263517814

Entrez Id:	94005
Gene Symbol:	PIGS

PIGS

CUI:	C4748357
Disease:

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18

0.700

GeneticVariation

CLINVAR

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

30269814

2018

dbSNP:

rs1567618413

Entrez Id:	94005
Gene Symbol:	PIGS

PIGS

CUI:	C4748357
Disease:

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18

0.700

GeneticVariation

CLINVAR

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

30269814

2018

dbSNP:

rs1263517814

Entrez Id:	94005
Gene Symbol:	PIGS

PIGS

CUI:	C4748357
Disease:

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18

0.700

CausalMutation

CLINVAR

dbSNP:

rs1567614073

Entrez Id:	94005
Gene Symbol:	PIGS

PIGS

CUI:	C4748357
Disease:

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18

AGCAACC

0.700

CausalMutation

CLINVAR

dbSNP:

rs1567616570

Entrez Id:	94005
Gene Symbol:	PIGS

PIGS

CUI:	C4748357
Disease:

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18

0.700

CausalMutation

CLINVAR

dbSNP:

rs1567618413

Entrez Id:	94005
Gene Symbol:	PIGS

PIGS

CUI:	C4748357
Disease:

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18

0.700

CausalMutation

CLINVAR