Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
0.800 GeneticVariation UNIPROT Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. 21419380 2011
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
0.800 CausalMutation CLINVAR