| Disease ID | Disease name | Source of annotation with SLC17A8 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS124900 | DEAFNESS, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 33 | GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, MYH9, MYH14, TNC, GRHL2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Synaptic vesicle cycle | hsa04721 | 6.74 |
| Nicotine addiction | hsa05033 | 7.38 |
| Retrograde endocannabinoid signaling | hsa04723 | 6.03 |
| Glutamatergic synapse | hsa04724 | 5.84 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
| Transport of inorganic cations/anions and amino acids/oligopeptides | R-HSA-425393 | 6.41 |
| Organic anion transporters | R-HSA-428643 | 9.98 |
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| GO term | GO ID | GO IC |
|---|---|---|
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| secondary active transmembrane transporter activity | GO:0015291 | 4.29 |
| symporter activity | GO:0015293 | 4.78 |
| organic anion transmembrane transporter activity | GO:0008514 | 5.31 |
| transporter activity | GO:0005215 | 2.57 |
| L-glutamate transmembrane transporter activity | GO:0005313 | 7.17 |
| amino acid transmembrane transporter activity | GO:0015171 | 5.38 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| acidic amino acid transmembrane transporter activity | GO:0015172 | 7.1 |
| organic acid transmembrane transporter activity | GO:0005342 | 4.97 |
| anion transmembrane transporter activity | GO:0008509 | 4.43 |
| carboxylic acid transmembrane transporter activity | GO:0046943 | 4.99 |
| active transmembrane transporter activity | GO:0022804 | 3.85 |