DisGeNET - a database of gene-disease associations

PIK3CA related overgrowth spectrum, C4728213

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913272

rs121913272

PIK3CA

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913275

rs121913275

PIK3CA

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913279

rs121913279

PIK3CA

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913279

rs121913279

PIK3CA

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913283

rs121913283

PIK3CA

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913283

rs121913283

PIK3CA

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913286

rs121913286

PIK3CA

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1560137609

rs1560137609

PIK3CA

GT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs397514565

rs397514565

PIK3CA

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs863225060

rs863225060

PIK3CA

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs121434592

rs121434592

AKT1

0.010

GeneticVariation

BEFREE

PS is caused by a single somatic activating AKT1 c.49G > A p.E17K variant while PROS can be caused one of multiple variants in PIK3CA.

2019