Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs121913272
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
rs121913272
PIK3CA
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273

2005
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE In 3 CCs, the main tumor tissue had also PIK3CA mutations (C420R: 1; E545K: 1; H1047R: 1), and in 1, it showed NRAS mutation (codon 12). 28025078

2017
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913272
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