Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cortical dysplasia with focal epilepsy syndrome
0.810 Biomarker disease BEFREE CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disability, epilepsy, language impairments and autistic features. 30586385 2018
Cortical dysplasia with focal epilepsy syndrome
0.810 Biomarker disease MGD Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
Cortical dysplasia with focal epilepsy syndrome
0.810 GermlineCausalMutation disease ORPHANET Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
Cortical dysplasia with focal epilepsy syndrome
0.810 Biomarker disease GENOMICS_ENGLAND Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
Cortical dysplasia with focal epilepsy syndrome
0.810 Biomarker disease CTD_human