rs398124268, CNTNAP2

N. diseases: 1
Disease: Pitt-Hopkins-Like Syndrome 1 ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pitt-Hopkins-Like Syndrome 1
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
0.700 CausalMutation CLINVAR Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. 21827697 2011