rs1554490549, CNTNAP2

N. diseases: 1
Disease: Pitt-Hopkins-Like Syndrome 1 ×
Source: ALL
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 Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006