Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
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
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.810 Biomarker disease MGD Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.810 GermlineCausalMutation disease ORPHANET Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.810 Biomarker disease GENOMICS_ENGLAND Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.810 Biomarker disease CTD_human