| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. | 28941273 | 2018 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). | 27426476 | 2017 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community. | 27870750 | 2017 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." | 26593112 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. | 27631024 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer. | 26301495 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. | 25557259 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. | 24497998 | 2014 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. | 23754335 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. | 23246288 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. | 22729224 | 2012 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. | 22228622 | 2012 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Rare cancer-specific mutations in PIK3CA show gain of function. | 17376864 | 2007 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. | 16847462 | 2006 |