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: rs398124268
rs398124268
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C2750246
Disease:
Pitt-Hopkins-Like Syndrome 1 		A 0.700 CausalMutation CLINVAR Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. 21827697 2011