Disease: Hemimegalencephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519925
rs1057519925
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0431391
Disease:
Hemimegalencephaly 		A 0.700 CausalMutation CLINVAR