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: rs104893981
rs104893981
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893985
rs104893985
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs193922915
rs193922915
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs193922915
rs193922915
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		G 0.800 CausalMutation CLINVAR
dbSNP: rs398123392
rs398123392
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C0268226
Disease:
Type I Mucolipidosis 		0.710 GeneticVariation 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
dbSNP: rs104893983
rs104893983
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.710 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs104893983
rs104893983
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.710 GeneticVariation 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
dbSNP: rs398123392
rs398123392
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C0268226
Disease:
Type I Mucolipidosis 		C 0.710 CausalMutation CLINVAR First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study. 16712870 2006
dbSNP: rs104893983
rs104893983
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.710 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: rs104893983
rs104893983
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.710 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: rs104893983
rs104893983
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.710 GeneticVariation UNIPROT Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. 11279074 2001
dbSNP: rs104893983
rs104893983
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.710 GeneticVariation UNIPROT Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. 11063730 2000
dbSNP: rs104893983
rs104893983
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.710 GeneticVariation UNIPROT Molecular and structural studies of Japanese patients with sialidosis type 1. 10944856 2000
dbSNP: rs104893983
rs104893983
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.710 GeneticVariation UNIPROT Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 10767332 2000
dbSNP: rs398123392
rs398123392
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C0268226
Disease:
Type I Mucolipidosis 		C 0.710 CausalMutation CLINVAR Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 10767332 2000
dbSNP: rs104893983
rs104893983
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.710 GeneticVariation UNIPROT Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. 9054950 1997
dbSNP: rs104893983
rs104893983
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.710 GeneticVariation UNIPROT Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 8985184 1996
dbSNP: rs622076
rs622076
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs67682613
rs67682613
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C0036341
Disease:
Schizophrenia 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
dbSNP: rs104893977
rs104893977
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.700 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs104893979
rs104893979
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.700 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs28940583
rs28940583
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.700 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs534846786
rs534846786
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.700 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs754068739
rs754068739
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.700 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014
dbSNP: rs762400331
rs762400331
Entrez Id: 1589;4758
Gene Symbol: CYP21A2;NEU1
CYP21A2;NEU1
CUI: C4282398
Disease:
Sialidase deficiency 		0.700 GeneticVariation UNIPROT In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. 25153125 2014