NAGA, alpha-N-acetylgalactosaminidase, 4668

N. diseases: 86; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 GeneticVariation disease BEFREE Schindler disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in alpha-N-acetylgalactosaminidase (α-NAGA) activity due to defects in the NAGA gene. 31468281 2020
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 Biomarker disease CTD_human The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases. 19683538 2009
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 AlteredExpression disease BEFREE These results indicate that blood group A glycosphingolipids are catabolized to H glycosphingolipids by alpha-NAGA, resulting in lower levels of blood group A glycosphingolipids in the hair of normal subjects, and alpha-NAGA deficiency causes accumulation of blood group A glycosphingolipids in the hair of Kanzaki patients. 15698859 2005
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 Biomarker disease BEFREE These data suggest that a prototype of alpha-NAGA deficiency in Kanzaki disease and factors other than the defect of alpha-NAGA may contribute to severe neurological disorders, and Kanzaki disease is thought to be caused by a single enzyme deficiency. 14685826 2004
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 GeneticVariation disease BEFREE These observations are difficult to reconcile with a straightforward genotype-phenotype correlation and suggest that factors or genes other than alpha-NAGA contribute to the clinical heterogeneity of the 11 patients with alpha-NAGA deficiency. 11313741 2001
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 CausalMutation disease CLINVAR Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? 11313741 2001
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 GeneticVariation disease CLINVAR A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. 11251574 2001
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 Biomarker disease GENOMICS_ENGLAND These observations are difficult to reconcile with a simple genotype-phenotype correlation and we suggest that factors or genes other than alpha-NAGA contribute to the clinical heterogeneity of the eight patients with alpha-NAGA deficiency. 8782044 1996
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 GeneticVariation disease CLINVAR These observations are difficult to reconcile with a simple genotype-phenotype correlation and we suggest that factors or genes other than alpha-NAGA contribute to the clinical heterogeneity of the eight patients with alpha-NAGA deficiency. 8782044 1996
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 GeneticVariation disease UNIPROT These observations are difficult to reconcile with a simple genotype-phenotype correlation and we suggest that factors or genes other than alpha-NAGA contribute to the clinical heterogeneity of the eight patients with alpha-NAGA deficiency. 8782044 1996
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 CausalMutation disease CLINVAR These observations are difficult to reconcile with a simple genotype-phenotype correlation and we suggest that factors or genes other than alpha-NAGA contribute to the clinical heterogeneity of the eight patients with alpha-NAGA deficiency. 8782044 1996
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 CausalMutation disease CLINVAR Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. 7707696 1994
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 Biomarker disease GENOMICS_ENGLAND alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis. 8071745 1994
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 CausalMutation disease CLINVAR The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. 8040340 1994
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 CausalMutation disease CLINVAR alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis. 8071745 1994
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 AlteredExpression disease BEFREE Investigation of the alpha-N-acetylgalactosaminidase activity and protein in the proband revealed less than 2% of normal activity and the absence of detectable immunoreactive enzyme protein, findings comparable to those in the patients with infantile neuroaxonal dystrophy and alpha-N-acetylgalactosaminidase deficiency. 1907616 1991
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 PosttranslationalModification disease BEFREE Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency. 2025241 1991
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 GeneticVariation disease UNIPROT Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. 2243144 1990
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 CausalMutation disease CLINVAR Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. 2243144 1990
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 Biomarker disease CTD_human Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. 2243144 1990
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 Biomarker disease BEFREE Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. 2243144 1990
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 CausalMutation disease CLINVAR An interaction model of a Poisson and a renewal process related to neuron firing. 1131374 1975
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.770 GermlineCausalMutation disease ORPHANET
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016