Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.800 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.800 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs104886003
rs104886003
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: rs104886003
rs104886003
PIK3CA
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT The prevalence of PIK3CA mutations in gastric and colon cancer. 15994075

2005
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273

2005
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.760 GeneticVariation UNIPROT PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. 16353168

2006