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: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis
0.700 GeneticVariation disease BEFREE We report a type 1 sialidosis patient with a novel deletion mutation in NEU1 and compared the phenotypes within different ethnicities. 31371146 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Assessment of human epidermal growth factor receptor 2/neu gene amplification and expression as a biomarker for radiotherapy and hormonal-treated breast cancer patients in upper Egypt. 31603098 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Bone metastases incidence and its correlation with hormonal and human epidermal growth factor receptor 2 neu receptors in breast cancer. 31603096 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE Assessment of human epidermal growth factor receptor 2/neu gene amplification and expression as a biomarker for radiotherapy and hormonal-treated breast cancer patients in upper Egypt. 31603098 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE Bone metastases incidence and its correlation with hormonal and human epidermal growth factor receptor 2 neu receptors in breast cancer. 31603096 2020
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis
0.700 GeneticVariation disease BEFREE Type 1 sialidosis (OMIM#256550) is a rare autosomal recessive lysosomal storage disease caused by a mutation in the NEU1 (OMIM * 608272) gene. 30635863 2019
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency
0.540 GeneticVariation disease BEFREE Sialidosis is a rare lysosomal storage disease caused by an α-N-acetyl neuraminidase-1 deficiency due to mutations of the NEU1 gene (6p21). 30445145 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE As a consequence of blocking Neu1, honokiol reduced the levels of sialic acid in the two subtypes of breast cancer. 31515676 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE The link between Neuraminidase 1 (Neu1) and cancer development has been highlighted in numerous studies. 31515676 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 AlteredExpression disease BEFREE As a consequence of blocking Neu1, honokiol reduced the levels of sialic acid in the two subtypes of breast cancer. 31515676 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.090 Biomarker group BEFREE The link between Neuraminidase 1 (Neu1) and cancer development has been highlighted in numerous studies. 31515676 2019
Noninfiltrating Intraductal Carcinoma
0.030 Biomarker disease BEFREE On the basis of the high frequency of estrogen receptor-positive (ER+) and HER2-positive (HER2+) DCIS, we hypothesized that this tumor type overexpresses HER2 protein without gene amplification and retrospectively investigated the HER2/neu gene status of 71 ER(+)HER2(+) DCIS, surgically removed during the 2007 to 2017 period, employing fluorescence in situ hybridization (FISH). 31192864 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.030 AlteredExpression disease BEFREE Either TOB1-AS1 or NEU1 upregulation accelerated GC cell apoptosis, hampered proliferation, migration, and invasion. 31799657 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.020 AlteredExpression disease BEFREE Either TOB1-AS1 or NEU1 upregulation accelerated GC cell apoptosis, hampered proliferation, migration, and invasion. 31799657 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.020 AlteredExpression phenotype BEFREE These findings provide evidence that Neu1 regulates cell growth and death, and facilitates cancer progression by modulating the expression levels of cadherins. 31515676 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 AlteredExpression disease BEFREE We decided to study the association of monocyte α-2,3-sialyltransferase 1 (ST3Gal-1), neuraminidase-3 (Neu3), α-2,6-sialyltransferase 1 (ST6Gal-1), and neuraminidase-1 (Neu1) levels with disease activity score 28 (DAS28) in human rheumatoid arthritis (RA), considering that mouse monocytes' sialic acid (SIA) levels relate to their phagocytosis and IgG binding ability. 30913115 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 AlteredExpression disease BEFREE Differential lectin binding, specifically Gal-1, to SLE T cells was explained by the increased gene expression ratio of sialyltransferases and neuraminidase 1 (<i>NEU1</i>), particularly by elevated ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (<i>ST6GAL1</i>)/<i>NEU1</i> and ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (S<i>T3GAL6)</i>/<i>NEU1</i> ratios. 31509989 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.010 Biomarker disease BEFREE Results revealed that miR-205 facilitated lipid accumulation by inhibiting NEU1 in NAFLD, suggesting that miR-205 might be a potential target for the therapeutic strategy for NAFLD. 31799678 2019
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.010 Biomarker group BEFREE Neuraminidase 1-mediated desialylation of the mucin 1 ectodomain releases a decoy receptor that protects against <i>Pseudomonas aeruginosa</i> lung infection. 30429216 2019
CUI: C1856275
Disease: Glycoprotein Storage Disease
Glycoprotein Storage Disease
0.010 GeneticVariation disease BEFREE Lysosomal exocytosis is a ubiquitous process negatively regulated by neuraminidase 1 (NEU1), a sialidase mutated in the glycoprotein storage disease sialidosis. 31328155 2019
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis
0.700 GeneticVariation disease 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
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses
0.600 GeneticVariation disease 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
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.080 AlteredExpression group BEFREE Detection of HER2/neu receptor overexpression and/or amplification is a prerequisite for efficient anti-HER2 treatment of breast and gastric carcinomas. 29530054 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.070 Biomarker phenotype BEFREE OP was used because of its anticancer properties targeting mammalian neuraminidase 1 (Neu1) involved in multistage tumorigenesis. 29560107 2018