CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Disease: Foot Deformities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		0.110 GeneticVariation group BEFREE In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). 27782105 2017
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		0.110 Biomarker group HPO