Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation phenotype CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		0.100 Biomarker phenotype HPO
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.100 Biomarker phenotype HPO
Entrez Id: 6608
Gene Symbol: SMO
SMO 		0.100 CausalMutation phenotype CLINVAR