| Disease ID | Disease name | Source of annotation with SLC26A2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 222600 | DIASTROPHIC DYSPLASIA | ClinVar, OMIM | link to OMIM | 1 | SLC26A2 |
| PS200600 | ACHONDROGENESIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | TRIP11, SLC26A2, COL2A1 |
| PS108720 | ATELOSTEOGENESIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | FLNB, SLC26A2 |
| PS132400 | EPIPHYSEAL DYSPLASIA, MULTIPLE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | COMP, COL9A3, MATN3, COL9A2, SLC26A2, COL9A1 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Biological oxidations | R-HSA-211859 | 5.55 |
| Cytosolic sulfonation of small molecules | R-HSA-156584 | 8.89 |
| Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| Defective SLC26A2 causes chondrodysplasias | R-HSA-3560792 | 12.98 |
| Transport of inorganic cations/anions and amino acids/oligopeptides | R-HSA-425393 | 6.41 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Multifunctional anion exchangers | R-HSA-427601 | 10.4 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Transport and synthesis of PAPS | R-HSA-174362 | 10.4 |
| Phase II conjugation | R-HSA-156580 | 6.52 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| ion antiporter activity | GO:0099516 | 5.75 |
| secondary active sulfate transmembrane transporter activity | GO:0008271 | 7.17 |
| sulfate transmembrane transporter activity | GO:0015116 | 7.17 |
| sulfur compound transmembrane transporter activity | GO:1901682 | 6.44 |
| anion transmembrane transporter activity | GO:0008509 | 4.43 |
| bicarbonate transmembrane transporter activity | GO:0015106 | 6.79 |
| inorganic anion transmembrane transporter activity | GO:0015103 | 4.87 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| anion channel activity | GO:0005253 | 5.23 |
| chloride channel activity | GO:0005254 | 5.36 |
| chloride transmembrane transporter activity | GO:0015108 | 5.24 |
| active transmembrane transporter activity | GO:0022804 | 3.85 |
| antiporter activity | GO:0015297 | 5.33 |
| secondary active transmembrane transporter activity | GO:0015291 | 4.29 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| oxalate transmembrane transporter activity | GO:0019531 | 7.34 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| anion:anion antiporter activity | GO:0015301 | 6.41 |
| organic anion transmembrane transporter activity | GO:0008514 | 5.31 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| channel activity | GO:0015267 | 3.6 |
| substrate-specific channel activity | GO:0022838 | 3.67 |