Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		0.100 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		0.100 CausalMutation CLINVAR

Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		0.100 CausalMutation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		0.100 CausalMutation CLINVAR