| Disease ID | Disease name | Source of annotation with SLC17A5 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 269920 | INFANTILE SIALIC ACID STORAGE DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SLC17A5 |
| 604369 | SALLA DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SLC17A5 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Lysosome | hsa04142 | 5.78 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Transport of inorganic cations/anions and amino acids/oligopeptides | R-HSA-425393 | 6.41 |
| Synthesis of substrates in N-glycan biosythesis | R-HSA-446219 | 7.28 |
| Organic anion transporters | R-HSA-428643 | 9.98 |
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Sialic acid metabolism | R-HSA-4085001 | 7.94 |
| SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
| GO term | GO ID | GO IC |
|---|---|---|
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| solute:proton symporter activity | GO:0015295 | 6.48 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| secondary active transmembrane transporter activity | GO:0015291 | 4.29 |
| symporter activity | GO:0015293 | 4.78 |
| sugar transmembrane transporter activity | GO:0051119 | 6.3 |
| carbohydrate transporter activity | GO:1901476 | 5.95 |
| transporter activity | GO:0005215 | 2.57 |
| solute:cation symporter activity | GO:0015294 | 5.15 |
| cation:sugar symporter activity | GO:0005402 | 7.03 |
| sialic acid transmembrane transporter activity | GO:0015136 | 9.74 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| carbohydrate derivative transporter activity | GO:1901505 | 6.18 |
| sugar:proton symporter activity | GO:0005351 | 7.03 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| sialic acid:proton symporter activity | GO:0015538 | 9.74 |
| carbohydrate transmembrane transporter activity | GO:0015144 | 5.95 |
| active transmembrane transporter activity | GO:0022804 | 3.85 |