Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038506
Disease: Stuttering
Stuttering
0.060 Biomarker phenotype BEFREE Recently, variants in GNPTAB, GNPTG, and the functionally related NAGPA gene have been associated with non-syndromic persistent stuttering. 26130485 2016
CUI: C0038506
Disease: Stuttering
Stuttering
0.060 GeneticVariation phenotype BEFREE Our results revealed that the stuttering risk genes GNPTAB and NAGPA might also associate with developmental dyslexia in the Chinese population. 25643770 2015
CUI: C0038506
Disease: Stuttering
Stuttering
0.060 Biomarker phenotype BEFREE We found that the μ4 subunit of AP-4 interacts with NAGPA, an enzyme involved in the synthesis of the mannose 6-phosphate signal that targets acid hydrolases to the lysosome and the product of a gene previously associated with stuttering. 26544806 2015
CUI: C0038506
Disease: Stuttering
Stuttering
0.060 Biomarker phenotype BEFREE This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering. 24807205 2014
CUI: C0038506
Disease: Stuttering
Stuttering
0.060 GeneticVariation phenotype BEFREE Surprisingly, the first variant genes to be associated with stuttering are those encoding the lysosomal targeting system, GNPTAB, GNPTG, and NAGPA. 22884963 2012
CUI: C0038506
Disease: Stuttering
Stuttering
0.060 GeneticVariation phenotype BEFREE These biochemical findings extend the genetic data implicating mutations in the NAGPA gene in the persistent stuttering phenotype. 21956109 2011