| Disease ID | Disease name | Source of annotation with SLC16A1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 245340 | ERYTHROCYTE LACTATE TRANSPORTER DEFECT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SLC16A1 |
| 616095 | MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | SLC16A1 |
| PS256450 | HYPERINSULINEMIA HYPOGLYCEMIA | ClinVar, OMIM | link to OMIM | 7 | GCK, INSR, SLC16A1, GLUD1, HADH, ABCC8, KCNJ11 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Pyruvate metabolism and Citric Acid (TCA) cycle | R-HSA-71406 | 7.56 |
| The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| Proton-coupled monocarboxylate transport | R-HSA-433692 | 10.98 |
| Pyruvate metabolism | R-HSA-70268 | 8.52 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Basigin interactions | R-HSA-210991 | 8.34 |
| SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
| Cell surface interactions at the vascular wall | R-HSA-202733 | 6.32 |
| Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | R-HSA-425366 | 6.34 |
| Hemostasis | R-HSA-109582 | 3.98 |
| 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 |
| organic anion transmembrane transporter activity | GO:0008514 | 5.31 |
| lactate transmembrane transporter activity | GO:0015129 | 7.34 |
| mevalonate transmembrane transporter activity | GO:0015130 | 9.74 |
| transporter activity | GO:0005215 | 2.57 |
| anion transmembrane transporter activity | GO:0008509 | 4.43 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| monocarboxylic acid transmembrane transporter activity | GO:0008028 | 6.18 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| symporter activity | GO:0015293 | 4.78 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| carboxylic acid transmembrane transporter activity | GO:0046943 | 4.99 |
| organic acid transmembrane transporter activity | GO:0005342 | 4.97 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| identical protein binding | GO:0042802 | 2.63 |
| active transmembrane transporter activity | GO:0022804 | 3.85 |