DisGeNET - a database of gene-disease associations

Gene: PPP2CA ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5515
Gene Symbol:	PPP2CA

PPP2CA

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.410

Biomarker

GENOMICS_ENGLAND

We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Cα subunit.

2019