Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
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
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: rs121913279
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
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
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
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: rs121913279
rs121913279
PIK3CA
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		0.710 GeneticVariation UNIPROT Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 23100325

2013
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.710 GeneticVariation UNIPROT Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168

2004