NAGA, alpha-N-acetylgalactosaminidase, 4668

N. diseases: 86; N. variants: 8
Disease: Schindler Disease, Type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 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: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 Biomarker disease GENOMICS_ENGLAND Neurologic manifestations of Kanzaki disease. 15136691 2004
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 Biomarker disease GENOMICS_ENGLAND Neurologic manifestations of Kanzaki disease. 15136691 2004
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 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: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 GeneticVariation disease UNIPROT A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. 11251574 2001
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 Biomarker disease GENOMICS_ENGLAND alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis. 8071745 1994
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 GeneticVariation disease UNIPROT The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. 8040340 1994
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 Biomarker disease CTD_human Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. 2243144 1990
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 GeneticVariation disease CLINVAR
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 CausalMutation disease CLINVAR
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II 		0.710 GermlineCausalMutation disease ORPHANET