| Disease ID | Disease name | Source of annotation with SLC35D1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 269250 | SCHNECKENBECKEN DYSPLASIA | OMIM | link to OMIM | 1 | SLC35D1 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Transport of nucleotide sugars | R-HSA-727802 | 9.81 |
| Glucuronidation | R-HSA-156588 | 8.73 |
| Biological oxidations | R-HSA-211859 | 5.55 |
| Transport of vitamins, nucleosides, and related molecules | R-HSA-425397 | 7.73 |
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| Phase II conjugation | R-HSA-156580 | 6.52 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Disease | R-HSA-1643685 | 3.33 |
| Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) | R-HSA-5579020 | 12.98 |
| SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
| Formation of the active cofactor, UDP-glucuronate | R-HSA-173599 | 11.4 |
| Metabolic disorders of biological oxidation enzymes | R-HSA-5579029 | 7.85 |
| GO term | GO ID | GO IC |
|---|---|---|
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| nucleobase-containing compound transmembrane transporter activity | GO:0015932 | 6.34 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| transporter activity | GO:0005215 | 2.57 |
| nucleotide-sugar transmembrane transporter activity | GO:0005338 | 7.54 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| UDP-glucuronic acid transmembrane transporter activity | GO:0005461 | 9.74 |
| pyrimidine nucleotide-sugar transmembrane transporter activity | GO:0015165 | 7.79 |
| carbohydrate derivative transporter activity | GO:1901505 | 6.18 |