CNTNAP2, contactin associated protein 2, 26047

N. diseases: 30; N. variants: 33
Disease: Pitt-Hopkins-Like Syndrome 1 ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554490549
rs1554490549
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		C 0.700 CausalMutation CLINVAR Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006