Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 CausalMutation CLINVAR 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
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker HPO