DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Congenital macrodactylia ×

Gene: PIK3CA ×

Results per page

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:	C0265552
Disease:	Congenital macrodactylia

Congenital macrodactylia

0.670

CausalMutation

CLINVAR

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C0265552
Disease:	Congenital macrodactylia

Congenital macrodactylia

0.670

Biomarker

HPO