DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: PIK3CA ×

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:

rs121913279

PIK3CA

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.820

GeneticVariation

UNIPROT

Functional analysis of PIK3CA gene mutations in human colorectal cancer.

15930273

2005

dbSNP:

rs121913279

PIK3CA

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.820

GeneticVariation

UNIPROT

The prevalence of PIK3CA mutations in gastric and colon cancer.

15994075

2005

dbSNP:

rs104886003

PIK3CA

CUI:	C1865285
Disease:	Megalencephaly cutis marmorata telangiectatica congenita

Megalencephaly cutis marmorata telangiectatica congenita

0.800

GeneticVariation

UNIPROT

"Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."

26593112

2016

dbSNP:

rs104886003

PIK3CA

CUI:	C1865285
Disease:	Megalencephaly cutis marmorata telangiectatica congenita

Megalencephaly cutis marmorata telangiectatica congenita

0.800

GeneticVariation

UNIPROT

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

22729224

2012

dbSNP:

rs104886003

PIK3CA

CUI:	C0022603
Disease:	Seborrheic keratosis

Seborrheic keratosis

0.800

GeneticVariation

UNIPROT

By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R.

17673550

2007

dbSNP:

rs104886003

PIK3CA

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.800

GeneticVariation

UNIPROT

The prevalence of PIK3CA mutations in gastric and colon cancer.

15994075

2005

dbSNP:

rs104886003

PIK3CA

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.800

GeneticVariation

UNIPROT

Functional analysis of PIK3CA gene mutations in human colorectal cancer.

15930273

2005

dbSNP:

rs121913272

PIK3CA

CUI:	C2751313
Disease:	CLAPO Syndrome

CLAPO Syndrome

0.800

GeneticVariation

UNIPROT

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

29446767

2018

dbSNP:

rs121913272

PIK3CA

CUI:	C2752042
Disease:	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

0.800

GeneticVariation

UNIPROT

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

22658544

2012

dbSNP:

rs121913273

PIK3CA

CUI:	C2751313
Disease:	CLAPO Syndrome

CLAPO Syndrome

0.800

GeneticVariation

UNIPROT

dbSNP:

rs121913274

PIK3CA

CUI:	C2239176
Disease:	Liver carcinoma

Liver carcinoma

0.800

GeneticVariation

UNIPROT

PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.

15608678

2005

dbSNP:

rs121913279

PIK3CA

CUI:	C2751313
Disease:	CLAPO Syndrome

CLAPO Syndrome

0.800

GeneticVariation

UNIPROT

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

29446767

2018

dbSNP:

rs121913279

PIK3CA

CUI:	C2752042
Disease:	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

0.800

GeneticVariation

UNIPROT

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

22658544

2012

dbSNP:

rs121913279

PIK3CA

CUI:	C0022603
Disease:	Seborrheic keratosis

Seborrheic keratosis

0.800

GeneticVariation

UNIPROT

By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R.

17673550

2007

dbSNP:

rs121913279

PIK3CA

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.800

GeneticVariation

UNIPROT

PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.

16353168

2006

dbSNP:

rs121913281

PIK3CA

CUI:	C1865285
Disease:	Megalencephaly cutis marmorata telangiectatica congenita

Megalencephaly cutis marmorata telangiectatica congenita

0.800

GeneticVariation

UNIPROT

dbSNP:

rs397514565

PIK3CA

CUI:	C1865285
Disease:	Megalencephaly cutis marmorata telangiectatica congenita

Megalencephaly cutis marmorata telangiectatica congenita

0.800

GeneticVariation

UNIPROT

"Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."

26593112

2016

dbSNP:

rs397514565

PIK3CA

CUI:	C1865285
Disease:	Megalencephaly cutis marmorata telangiectatica congenita

Megalencephaly cutis marmorata telangiectatica congenita

0.800

GeneticVariation

UNIPROT

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

22729224

2012

dbSNP:

rs587776932

PIK3CA

CUI:	C1865285
Disease:	Megalencephaly cutis marmorata telangiectatica congenita

Megalencephaly cutis marmorata telangiectatica congenita

0.800

GeneticVariation

UNIPROT

dbSNP:

rs587777790

PIK3CA

CUI:	C3554518
Disease:	COWDEN SYNDROME 5

COWDEN SYNDROME 5

0.800

GeneticVariation

UNIPROT

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

23246288

2013

dbSNP:

rs587777791

PIK3CA

CUI:	C3554518
Disease:	COWDEN SYNDROME 5

COWDEN SYNDROME 5

0.800

GeneticVariation

UNIPROT

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

23246288

2013

dbSNP:

rs587777792

PIK3CA

CUI:	C3554518
Disease:	COWDEN SYNDROME 5

COWDEN SYNDROME 5

0.800

GeneticVariation

UNIPROT

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

23246288

2013

dbSNP:

rs587777793

PIK3CA

CUI:	C3554518
Disease:	COWDEN SYNDROME 5

COWDEN SYNDROME 5

0.800

GeneticVariation

UNIPROT

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

23246288

2013

dbSNP:

rs587777794

PIK3CA

CUI:	C3554518
Disease:	COWDEN SYNDROME 5

COWDEN SYNDROME 5

0.800

GeneticVariation

UNIPROT

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

23246288

2013

dbSNP:

rs863225460

PIK3CA

CUI:	C1865285
Disease:	Megalencephaly cutis marmorata telangiectatica congenita

Megalencephaly cutis marmorata telangiectatica congenita

0.800

GeneticVariation

UNIPROT

"Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."

26593112

2016