DisGeNET - a database of gene-disease associations

PIGO, phosphatidylinositol glycan anchor biosynthesis class O, 84720

N. diseases: 87; N. variants: 19

Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 ×

Variant: rs142164373 ×

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:

rs142164373

Entrez Id:	84720
Gene Symbol:	PIGO

PIGO

CUI:	C3553637
Disease:

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2

0.800

GeneticVariation

UNIPROT

PIGO deficiency: palmoplantar keratoderma and novel mutations.

28545593

2017

dbSNP:

rs142164373

Entrez Id:	84720
Gene Symbol:	PIGO

PIGO

CUI:	C3553637
Disease:

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2

0.800

GeneticVariation

UNIPROT

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

28337824

2017

dbSNP:

rs142164373

Entrez Id:	84720
Gene Symbol:	PIGO

PIGO

CUI:	C3553637
Disease:

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2

0.800

GeneticVariation

UNIPROT

Vitamin B6-responsive epilepsy due to inherited GPI deficiency.

24049131

2013

dbSNP:

rs142164373

Entrez Id:	84720
Gene Symbol:	PIGO

PIGO

CUI:	C3553637
Disease:

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2

0.800

GeneticVariation

UNIPROT

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

22683086

2012

dbSNP:

rs142164373

Entrez Id:	84720
Gene Symbol:	PIGO

PIGO

CUI:	C3553637
Disease:

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2

0.800

CausalMutation

CLINVAR