DisGeNET - a database of gene-disease associations

Gene: PIK3CA ×

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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:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C0266166
Disease:	Congenital duplication of intestine

Congenital duplication of intestine

0.100

CausalMutation

CLINVAR

Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.

2019