Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7056
Gene Symbol: THBD
THBD
0.010 Biomarker disease BEFREE Soluble vascular endothelial markers, including thrombomodulin, soluble vascular adhesion molecule (sVCAM), soluble intercellular adhesion molecule (sICAM), E-selectin, and P-selectin were significantly higher in PS and PROS compared to controls. 31490637 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE As well, a number of overlapping overgrowth disorders attributable to mosaic PIK3CA variants have now been characterized, leading to the designation of PIK3CA-related overgrowth spectrum (PROS). 31692258 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. 31693582 2019
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
0.080 GeneticVariation disease BEFREE PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. 31693582 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.070 GeneticVariation disease BEFREE PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. 31693582 2019
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
0.070 GeneticVariation disease BEFREE PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. 31693582 2019
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.070 GeneticVariation disease BEFREE PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. 31693582 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 Biomarker disease BEFREE In particular, genetically induced PI3K/mTOR pathway activation causes rare disorders, known as overgrowth syndromes, like PTEN (phosphatase and tensin homolog) hamartomas, tuberous sclerosis complex (TSC), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS), and activated PI3-Kinase delta syndrome (PI3KCD, APDS). 31752127 2019
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
0.080 GeneticVariation disease BEFREE In particular, genetically induced PI3K/mTOR pathway activation causes rare disorders, known as overgrowth syndromes, like PTEN (phosphatase and tensin homolog) hamartomas, tuberous sclerosis complex (TSC), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS), and activated PI3-Kinase delta syndrome (PI3KCD, APDS). 31752127 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.010 Biomarker disease BEFREE In particular, genetically induced PI3K/mTOR pathway activation causes rare disorders, known as overgrowth syndromes, like PTEN (phosphatase and tensin homolog) hamartomas, tuberous sclerosis complex (TSC), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS), and activated PI3-Kinase delta syndrome (PI3KCD, APDS). 31752127 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.010 Biomarker disease BEFREE In particular, genetically induced PI3K/mTOR pathway activation causes rare disorders, known as overgrowth syndromes, like PTEN (phosphatase and tensin homolog) hamartomas, tuberous sclerosis complex (TSC), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS), and activated PI3-Kinase delta syndrome (PI3KCD, APDS). 31752127 2019