| Disease ID | Disease name | Source of annotation with SLC2A1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 608885 | STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS | ClinVar, OMIM | link to OMIM | 1 | SLC2A1 |
| 614847 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SLC2A1 |
| PS128100 | DYSTONIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 18 | DRD2, GNAL, ANO3, SLC2A1, KCTD17, HPCA, THAP1, GCH1, PRRT2, ATP1A3, PNKD, PRKRA, COL6A3, TOR1A, CACNA1B, SGCE, TAF1, TUBB4A |
| PS606777 | GLUT1 DEFICIENCY SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SLC2A1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Bile secretion | hsa04976 | 6.56 |
| Renal cell carcinoma | hsa05211 | 6.6 |
| Pathways in cancer | hsa05200 | 3.98 |
| Insulin secretion | hsa04911 | 6.18 |
| Central carbon metabolism in cancer | hsa05230 | 6.7 |
| HIF-1 signaling pathway | hsa04066 | 5.9 |
| HTLV-I infection | hsa05166 | 4.59 |
| Thyroid hormone signaling pathway | hsa04919 | 5.82 |
| Adipocytokine signaling pathway | hsa04920 | 6.6 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Facilitative Na+-independent glucose transporters | R-HSA-428790 | 9.28 |
| Glucose transport | R-HSA-70153 | 7.62 |
| Regulation of insulin secretion | R-HSA-422356 | 6.66 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
| Vitamin C (ascorbate) metabolism | R-HSA-196836 | 9.98 |
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| Integration of energy metabolism | R-HSA-163685 | 6.24 |
| Hexose transport | R-HSA-189200 | 7.43 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Lactose synthesis | R-HSA-5653890 | 11.4 |
| SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
| Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
| Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | R-HSA-425366 | 6.34 |
| GO term | GO ID | GO IC |
|---|---|---|
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| glucose transmembrane transporter activity | GO:0005355 | 6.85 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| xenobiotic transporter activity | GO:0042910 | 7.95 |
| vitamin transporter activity | GO:0051183 | 6.56 |
| sugar transmembrane transporter activity | GO:0051119 | 6.3 |
| carbohydrate transporter activity | GO:1901476 | 5.95 |
| transporter activity | GO:0005215 | 2.57 |
| D-glucose transmembrane transporter activity | GO:0055056 | 7.66 |
| enzyme binding | GO:0019899 | 2.27 |
| hexose transmembrane transporter activity | GO:0015149 | 6.79 |
| kinase binding | GO:0019900 | 3.32 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| identical protein binding | GO:0042802 | 2.63 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| dehydroascorbic acid transporter activity | GO:0033300 | 8.35 |
| monosaccharide transmembrane transporter activity | GO:0015145 | 6.79 |
| carbohydrate transmembrane transporter activity | GO:0015144 | 5.95 |
| protein self-association | GO:0043621 | 5.93 |