CNTNAP2, contactin associated protein 2, 26047

N. diseases: 30; N. variants: 33
Disease: Cortical dysplasia with focal epilepsy syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552043
Disease: Cortical dysplasia with focal epilepsy syndrome
Cortical dysplasia with focal epilepsy syndrome 		0.810 GermlineCausalMutation disease ORPHANET Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
CUI: C4552043
Disease: Cortical dysplasia with focal epilepsy syndrome
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
CUI: C4552043
Disease: Cortical dysplasia with focal epilepsy syndrome
Cortical dysplasia with focal epilepsy syndrome 		0.810 Biomarker disease CTD_human