DisGeNET - a database of gene-disease associations

PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha, 5290

N. diseases: 1511; N. variants: 83

Disease: Megalencephaly cutis marmorata telangiectatica congenita ×

Variant: rs587776932 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587776932

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C1865285
Disease:

Megalencephaly cutis marmorata telangiectatica congenita

0.800

CausalMutation

CLINVAR

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

22729224

2012

dbSNP:

rs587776932

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C1865285
Disease:

Megalencephaly cutis marmorata telangiectatica congenita

0.800

GeneticVariation

CLINVAR

dbSNP:

rs587776932

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C1865285
Disease:

Megalencephaly cutis marmorata telangiectatica congenita

0.800

GeneticVariation

UNIPROT