rs1057519927, PIK3CA

N. diseases: 19
Disease: Overgrowth ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273 2018
Overgrowth
CUI: C1849265
Disease: Overgrowth
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
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
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
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 27631024 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer. 26301495 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. 25557259 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. 24497998 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. 23754335 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
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
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Rare cancer-specific mutations in PIK3CA show gain of function. 17376864 2007
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. 16847462 2006