DisGeNET - a database of gene-disease associations

Hamartoma Syndrome, Multiple, C0018553

Variant: rs1064793732 ×

Source: CLINVAR ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1064793732

PIK3CA

0.700

CausalMutation

CLINVAR

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

27631024

2016

dbSNP:

rs1064793732

PIK3CA

0.700

CausalMutation

CLINVAR

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

22729224

2012

dbSNP:

rs1064793732

PIK3CA

0.700

CausalMutation

CLINVAR

PIK3CA cooperates with other phosphatidylinositol 3'-kinase pathway mutations to effect oncogenic transformation.

18829572

2008