NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease BEFREE Autopsy findings of a patient, with sialidosis type I phenotype carrying V217M/G243R mutations in the lysosomal sialidase gene and biochemically defined isolated sialidase deficiency, who died of intractable lymphoma at the age of 32 years, are described. 19415310 2010
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease CLINVAR Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. 14695530 2004
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease UNIPROT Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. 14695530 2004
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease UNIPROT Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. 11829139 2002
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. 11829139 2002
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. 11702224 2001
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease UNIPROT Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. 11279074 2001
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease UNIPROT Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 10767332 2000
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease UNIPROT Molecular and structural studies of Japanese patients with sialidosis type 1. 10944856 2000
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease CLINVAR Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 10767332 2000
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease UNIPROT Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. 11063730 2000
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 Biomarker disease BEFREE Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts. 9384611 1998
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease UNIPROT Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 9054950 1997
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 GeneticVariation disease UNIPROT Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 8985184 1996
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 Biomarker disease CTD_human
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 CausalMutation disease CLINVAR
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 GeneticVariation disease BEFREE We report a type 1 sialidosis patient with a novel deletion mutation in NEU1 and compared the phenotypes within different ethnicities. 31371146 2020
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 GeneticVariation disease BEFREE Type 1 sialidosis (OMIM#256550) is a rare autosomal recessive lysosomal storage disease caused by a mutation in the NEU1 (OMIM * 608272) gene. 30635863 2019
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 GeneticVariation disease BEFREE In this study, we used Sendai virus reprogramming to generate an induced pluripotent stem cell (iPSC) line carrying the A544G mutation combined with the 667-679 deletion of the NEU1 gene from a sialidosis patient. 29414417 2018
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 AlteredExpression disease BEFREE Aberrant NEU1 activity is associated with various pathologies including lysosomal storage disorder sialidosis, autoimmune diseases and the malignancy and metastasis of cancer cells. 28130415 2017
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 GeneticVariation disease BEFREE Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene. 28138907 2017
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 Biomarker disease BEFREE We sequenced the entire coding regions of GLB1 and NEU1 in GM1 gangliosidosis and sialidosis patient cells, respectively. 25600812 2015
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 Biomarker disease BEFREE Our observation indicates that sialidosis should be suspected and the NEU1 gene analyzed in patients with isolated action myoclonus presenting in adulthood in the absence of other typical clinical and laboratory findings. 24808020 2014