| Disease ID | Disease name | Source of annotation with SDHB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 171300 | PHEOCHROMOCYTOMA | OMIM, HUMSAVAR | link to OMIM | 8 | VHL, GDNF, SDHB, KIF1B, RET, MAX, TMEM127, SDHD |
| 606864 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | OMIM | link to OMIM | 3 | SDHB, SDHD, SDHC |
| 606764 | GASTROINTESTINAL STROMAL TUMOR | ClinVar, OMIM | link to OMIM | 10 | SDHB, SLC19A1, MTHFR, SDHC, FOLR1, MTRR, KIT, PDGFRA, SHMT1, MTR |
| PS168000 | PARAGANGLIOMAS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | SDHC, SDHA, SDHD, SDHB, SDHAF2 |
| PS158350 | COWDEN DISEASE | ClinVar, OMIM | link to OMIM | 7 | AKT1, PTEN, SEC23B, SDHB, PIK3CA, KLLN, SDHD |
| 604287 | CARNEY TRIAD | ClinVar | link to OMIM | 3 | SDHA, SDHB, SDHC |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Parkinson's disease | hsa05012 | 5.59 |
| Oxidative phosphorylation | hsa00190 | 5.69 |
| Metabolic pathways | hsa01100 | 2.49 |
| Carbon metabolism | hsa01200 | 6.03 |
| Citrate cycle (TCA cycle) | hsa00020 | 7.86 |
| Huntington's disease | hsa05016 | 5.17 |
| Alzheimer's disease | hsa05010 | 5.34 |
| Non-alcoholic fatty liver disease (NAFLD) | hsa04932 | 5.51 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Respiratory electron transport | R-HSA-611105 | 6.44 |
| Pyruvate metabolism and Citric Acid (TCA) cycle | R-HSA-71406 | 7.56 |
| Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | R-HSA-163200 | 6.12 |
| Citric acid cycle (TCA cycle) | R-HSA-71403 | 8.73 |
| The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
| Metabolism | R-HSA-1430728 | 2.34 |
| GO term | GO ID | GO IC |
|---|---|---|
| oxidoreductase activity | GO:0016491 | 3.12 |
| cation binding | GO:0043169 | 1.4 |
| quinone binding | GO:0048038 | 6.91 |
| 3 iron, 4 sulfur cluster binding | GO:0051538 | 9.05 |
| 4 iron, 4 sulfur cluster binding | GO:0051539 | 6.0 |
| metal ion binding | GO:0046872 | 1.41 |
| iron-sulfur cluster binding | GO:0051536 | 5.55 |
| oxidoreductase activity, acting on the CH-CH group of donors, quinone or related compound as acceptor | GO:0016635 | 8.64 |
| succinate dehydrogenase (ubiquinone) activity | GO:0008177 | 9.05 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| 2 iron, 2 sulfur cluster binding | GO:0051537 | 6.56 |
| metal cluster binding | GO:0051540 | 5.55 |
| ubiquinone binding | GO:0048039 | 8.35 |
| succinate dehydrogenase activity | GO:0000104 | 8.13 |
| oxidoreductase activity, acting on the CH-CH group of donors | GO:0016627 | 5.66 |
| electron carrier activity | GO:0009055 | 4.97 |