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: rs104893978
rs104893978
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: rs104893978
rs104893978
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: rs104893980
rs104893980
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: rs104893980
rs104893980
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: rs104893980
rs104893980
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: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
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: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Molecular and structural studies of Japanese patients with sialidosis type 1. 10944856 2000
dbSNP: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		A 0.800 GeneticVariation CLINVAR Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 10767332 2000
dbSNP: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
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: rs104893985
rs104893985
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: rs104893985
rs104893985
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: rs104893985
rs104893985
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: rs104893972
rs104893972
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 9054950 1997
dbSNP: rs104893978
rs104893978
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 9054950 1997
dbSNP: rs104893980
rs104893980
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 9054950 1997
dbSNP: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 9054950 1997
dbSNP: rs104893985
rs104893985
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 9054950 1997
dbSNP: rs104893972
rs104893972
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 8985184 1996
dbSNP: rs104893978
rs104893978
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 8985184 1996
dbSNP: rs104893980
rs104893980
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 8985184 1996
dbSNP: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 8985184 1996
dbSNP: rs104893985
rs104893985
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 8985184 1996
dbSNP: rs104893972
rs104893972
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104893978
rs104893978
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104893980
rs104893980
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		G 0.800 CausalMutation CLINVAR