CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Pitt Hopkins-like syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4751168
Disease: Pitt Hopkins-like syndrome
Pitt Hopkins-like syndrome 		0.010 GeneticVariation disease BEFREE The second mouse model harbors homozygous null mutations in Cntnap2, associated with autism and Pitt-Hopkins-like syndrome. 26273832 2015