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 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Other glycan degradation | hsa00511 | 8.45 |
Lysosome | hsa04142 | 5.78 |
Sphingolipid metabolism | hsa00600 | 7.15 |
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 |
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 |