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: C0042900
Disease: Vitiligo
Vitiligo 		0.100 GeneticVariation disease GWASDB Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 20526339 2010
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 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: 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 GENOMICS_ENGLAND Genomic DNA from four unrelated sialidosis patients was screened for mutations within the sialidase gene NEU1.Five novel mutations were identified. 14695530 2004
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.600 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: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.600 Biomarker disease GENOMICS_ENGLAND Genomic DNA from four unrelated sialidosis patients was screened for mutations within the sialidase gene NEU1.Five novel mutations were identified. 14695530 2004
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		0.540 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		0.540 Biomarker disease GENOMICS_ENGLAND 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: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.400 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: C2673285
Disease: Hydrops fetalis (type II, congenital)
Hydrops fetalis (type II, congenital) 		0.300 Biomarker phenotype 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 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 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 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 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 human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 8985184 1996
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 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 Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 9054950 1997
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the sialidase gene NEU1, located on chromosome 6p21.3, result in autosomal recessive disorder, sialidosis, which is characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. 14517945 2003
CUI: C0023806
Disease: Lipomucopolysaccharidosis
Lipomucopolysaccharidosis 		0.410 GermlineCausalMutation disease ORPHANET Molecular pathology of NEU1 gene in sialidosis. 14517945 2003
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.400 Biomarker disease HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.110 Biomarker phenotype HPO