NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893972
rs104893972
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs104893978
rs104893978
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs104893980
rs104893980
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs104893985
rs104893985
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs104893972
rs104893972
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation 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
dbSNP: rs104893978
rs104893978
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation 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
dbSNP: rs104893980
rs104893980
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation 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
dbSNP: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation 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
dbSNP: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		A 0.800 GeneticVariation 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
dbSNP: rs104893985
rs104893985
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation 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
dbSNP: rs104893972
rs104893972
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. 11829139 2002
dbSNP: rs104893978
rs104893978
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. 11829139 2002
dbSNP: rs104893980
rs104893980
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. 11829139 2002
dbSNP: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. 11829139 2002
dbSNP: rs104893985
rs104893985
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. 11829139 2002
dbSNP: rs104893972
rs104893972
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. 11279074 2001
dbSNP: rs104893978
rs104893978
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. 11279074 2001
dbSNP: rs104893980
rs104893980
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. 11279074 2001
dbSNP: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. 11279074 2001
dbSNP: rs104893985
rs104893985
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. 11279074 2001
dbSNP: rs104893972
rs104893972
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Molecular and structural studies of Japanese patients with sialidosis type 1. 10944856 2000
dbSNP: rs104893972
rs104893972
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. 11063730 2000
dbSNP: rs104893972
rs104893972
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 10767332 2000
dbSNP: rs104893978
rs104893978
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 10767332 2000