rs121913279, PIK3CA

N. diseases: 68
Source: ALL
Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544 2012
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.800 CausalMutation CLINVAR Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544 2012
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.800 CausalMutation CLINVAR Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544 2012
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.800 CausalMutation CLINVAR Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 22729222 2012
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.800 CausalMutation CLINVAR Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 22729222 2012
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 22729222 2012
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.800 CausalMutation CLINVAR Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 22729222 2012
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.800 CausalMutation CLINVAR Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544 2012
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.800 CausalMutation CLINVAR Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550 2007
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.800 CausalMutation CLINVAR Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550 2007
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550 2007
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.800 CausalMutation CLINVAR Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550 2007
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.800 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678 2005
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678 2005
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.800 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678 2005
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.800 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678 2005
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168 2004
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.800 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.800 CausalMutation CLINVAR Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168 2004
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.800 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.800 CausalMutation CLINVAR Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168 2004
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.800 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.800 CausalMutation CLINVAR Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168 2004
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.800 CausalMutation CLINVAR PIK3CA-Related Segmental Overgrowth 23946963 1993