DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Macrodactylia of fingers ×

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:	C0158763
Disease:	Macrodactylia of fingers

Macrodactylia of fingers

0.100

CausalMutation

CLINVAR

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.

2016