DisGeNET - a database of gene-disease associations

PIGP, phosphatidylinositol glycan anchor biosynthesis class P, 51227

N. diseases: 85; N. variants: 2

Disease: Cortical visual impairment ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4048268
Disease:	Cortical visual impairment

Cortical visual impairment

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.

31139695

2019

CUI:	C4048268
Disease:	Cortical visual impairment

Cortical visual impairment

0.400

Biomarker

phenotype

HPO