Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 GeneticVariation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 CausalMutation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		0.950 CausalMutation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.800 CausalMutation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.770 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.770 GeneticVariation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 CausalMutation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 CausalMutation CLINVAR PIK3CA mutation associates with improved outcome in breast cancer. 19671852

2009
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 CausalMutation CLINVAR PIK3CA-activating mutations and chemotherapy sensitivity in stage II-III breast cancer. 18371219

2008
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 CausalMutation CLINVAR Alterations in p53, BRCA1, ATM, PIK3CA, and HER2 genes and their effect in modifying clinicopathological characteristics and overall survival of Bulgarian patients with breast cancer. 20177704

2010
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 CausalMutation CLINVAR PI3K/AKT/mTOR inhibitors in patients with breast and gynecologic malignancies harboring PIK3CA mutations. 22271473

2012
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 CausalMutation CLINVAR PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. 16353168

2006
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 GeneticVariation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.700 CausalMutation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.670 CausalMutation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		0.670 CausalMutation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.620 CausalMutation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		0.600 CausalMutation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.500 CausalMutation CLINVAR A novel dual PI3Kalpha/mTOR inhibitor PI-103 with high antitumor activity in non-small cell lung cancer cells. 19513541

2009
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.500 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.500 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963

2004
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.500 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.500 CausalMutation CLINVAR PIK3CA mutation status in Japanese lung cancer patients. 16930767

2006