Gene table of NEU1 : neuraminidase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NEU1	OMIM link	Number of associated genes	genes
256550	NEURAMINIDASE DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NEU1
236750	HYDROPS FETALIS, NONIMMUNE	ClinVar	link to OMIM	11	MYOM1, NEU1, FZD6, DNAH14, NEB, THSD1, UBN1, CHRNA1, GALNT14, PIGC, GUSB

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Glycosphingolipid metabolism	R-HSA-1660662	7.62
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	R-HSA-446193	6.92
Diseases associated with glycosylation precursor biosynthesis	R-HSA-5609975	9.08
Sphingolipid metabolism	R-HSA-428157	6.79
Synthesis of substrates in N-glycan biosythesis	R-HSA-446219	7.28
Metabolism of proteins	R-HSA-392499	3.41
Sialic acid metabolism	R-HSA-4085001	7.94
Asparagine N-linked glycosylation	R-HSA-446203	6.1
Metabolism	R-HSA-1430728	2.34
Defective NEU1 causes sialidosis	R-HSA-4341670	12.98
Diseases of glycosylation	R-HSA-3781865	6.89
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79
Post-translational protein modification	R-HSA-597592	4.54
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
catalytic activity	GO:0003824	1.05
alpha-sialidase activity	GO:0016997	7.95
exo-alpha-(2->3)-sialidase activity	GO:0052794	8.35
exo-alpha-(2->8)-sialidase activity	GO:0052796	8.35
hydrolase activity, acting on glycosyl bonds	GO:0016798	4.91
exo-alpha-(2->6)-sialidase activity	GO:0052795	8.35
hydrolase activity, hydrolyzing O-glycosyl compounds	GO:0004553	5.14
exo-alpha-sialidase activity	GO:0004308	7.95