rs104886003, PIK3CA

N. diseases: 71
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 CausalMutation CLINVAR
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR
Megalencephaly cutis marmorata telangiectatica congenita
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
0.800 CausalMutation CLINVAR
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.710 GeneticVariation CLINVAR
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
0.700 CausalMutation CLINVAR
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.700 CausalMutation CLINVAR
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
0.700 CausalMutation CLINVAR
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
0.700 CausalMutation CLINVAR
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT The prevalence of PIK3CA mutations in gastric and colon cancer. 15994075 2005
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. 15805248 2005
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. 15805248 2005
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.710 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005