Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses
0.600 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses
0.600 Biomarker 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

Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses
0.600 Biomarker 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