Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038506
Disease: Stuttering
Stuttering
0.320 Biomarker phenotype BEFREE This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to that of FOXP2 and CNTNAP2, suggests that the genetic neuropathological origins of stuttering differ from those of verbal dyspraxia and SLI. 24807205 2015
CUI: C0038506
Disease: Stuttering
Stuttering
0.320 Biomarker phenotype CTD_human CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering. 21108403 2011
CUI: C0038506
Disease: Stuttering
Stuttering
0.320 Biomarker phenotype CTD_human Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. 21108403 2011
CUI: C0038506
Disease: Stuttering
Stuttering
0.320 Biomarker phenotype CTD_human We report on a case with a complex set of speech and language difficulties including stuttering who presented with a 10 Mb deletion of chromosome region 7q33-35 causing the deletion of several genes and the disruption of CNTNAP2 by deleting the first three exons of the gene. 21108403 2011
CUI: C0038506
Disease: Stuttering
Stuttering
0.320 GeneticVariation phenotype BEFREE Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. 21108403 2011