CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Autism Spectrum Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908445
rs121908445
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C1510586
Disease:
Autism Spectrum Disorders 		0.010 GeneticVariation BEFREE Then, we show that the two ASD variants I869T and G731S, which present impaired binding to Contactin2/TAG-1, do not rescue axonal growth deficits. 29788201 2018