Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
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
CUI: C0086648
Disease: MPS III B
MPS III B 		0.010 GeneticVariation disease BEFREE Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent lysosomal accumulation of heparan sulfate (HS), which coincides with devastating neurodegenerative disease. 30657762 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent lysosomal accumulation of heparan sulfate (HS), which coincides with devastating neurodegenerative disease. 30657762 2019
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		0.010 Biomarker disease BEFREE We hypothesize that rare non-synonymous coding variants in GNPTAB, GNPTG, and NAGPA may account for as much as 16% of persistent stuttering cases, and that variants in GNPTAB and GNPTG are at different sites and may in general, cause less severe effects on protein function than those in ML II alpha/beta and ML III alpha/beta/gamma. 26130485 2016
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		0.010 Biomarker disease BEFREE We hypothesize that rare non-synonymous coding variants in GNPTAB, GNPTG, and NAGPA may account for as much as 16% of persistent stuttering cases, and that variants in GNPTAB and GNPTG are at different sites and may in general, cause less severe effects on protein function than those in ML II alpha/beta and ML III alpha/beta/gamma. 26130485 2016
CUI: C0476254
Disease: Dyslexia
Dyslexia 		0.010 Biomarker disease BEFREE Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population. 25643770 2015
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		0.010 GeneticVariation disease 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: C0454651
Disease: Specific language impairment
Specific language impairment 		0.010 Biomarker disease 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 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE This study provides an improved estimate of the contribution of mutations in GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering. 24807205 2014
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.010 GeneticVariation disease BEFREE Although mutations in NAGPA have not been associated with a disorder in humans, mutations in GNPTAB and GNPTG cause mucolipidosis types II and III, which are rare autosomal recessive lysosomal storage disorders, associated with pathology of bone, connective tissue, liver, spleen, and brain. 22884963 2012