DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: PIK3CA related overgrowth syndrome ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

0.292

0.923

1.00

CUI:	C4544791
Disease:	PIK3CA related overgrowth syndrome

PIK3CA related overgrowth syndrome

disease

0.010

None

1.000

2019

Entrez Id:	5291
Gene Symbol:	PIK3CB

PIK3CB

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

0.322

0.885

1.00

CUI:	C4544791
Disease:	PIK3CA related overgrowth syndrome

PIK3CA related overgrowth syndrome

disease

0.010

None

1.000

2019

Entrez Id:	5293
Gene Symbol:	PIK3CD

PIK3CD

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

0.319

0.885

1.00

CUI:	C4544791
Disease:	PIK3CA related overgrowth syndrome

PIK3CA related overgrowth syndrome

disease

0.010

None

1.000

2019

Entrez Id:	5294
Gene Symbol:	PIK3CG

PIK3CG

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

0.320

0.885

1.4E-06

CUI:	C4544791
Disease:	PIK3CA related overgrowth syndrome

PIK3CA related overgrowth syndrome

disease

0.010

None

1.000

2019