| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.430 | CausalMutation | disease | CLINVAR | PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. | 27631024 | 2016 | ||||
|
0.430 | Biomarker | disease | BEFREE | Our observations suggest that PIK3CA and AKT1 are CS susceptibility genes. | 23246288 | 2013 | ||||
|
0.430 | GermlineCausalMutation | disease | ORPHANET | Our observations suggest that PIK3CA and AKT1 are CS susceptibility genes. | 23246288 | 2013 | ||||
|
0.430 | CausalMutation | disease | CLINVAR | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. | 22729224 | 2012 | ||||
|
0.430 | CausalMutation | disease | CLINVAR | Regulation of lipid binding underlies the activation mechanism of class IA PI3-kinases. | 22120714 | 2012 | ||||
|
0.430 | GeneticVariation | disease | BEFREE | Cowden disease (CD) is a genetically heterogeneous inherited cancer syndrome that arises predominantly from germline phosphatase and tensin homologue deleted on chromosome 10 (PTEN) mutation and increased phosphoinositide 3-kinase/mammalian target of rapamycin (PI3K/mTOR) signalling. | 21361912 | 2011 | ||||
|
0.430 | CausalMutation | disease | CLINVAR | PIK3CA cooperates with other phosphatidylinositol 3'-kinase pathway mutations to effect oncogenic transformation. | 18829572 | 2008 | ||||
|
0.430 | Biomarker | disease | BEFREE | Our data suggest that PTEN modulates PLC:PLD activation pathways and indicate that the pathogenesis of CS/BRRS has a more complex biochemical basis beyond simply activating the PI3K pathway. | 17405772 | 2007 | ||||
|
0.430 | CausalMutation | disease | CLINVAR | Rare cancer-specific mutations in PIK3CA show gain of function. | 17376864 | 2007 | ||||
|
0.430 | CausalMutation | disease | CLINVAR | Functional analysis of PIK3CA gene mutations in human colorectal cancer. | 15930273 | 2005 |