| Disease ID | Disease name | Source of annotation with SDHA | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS115200 | DILATED CARDIOMYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 36 | MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1 |
| 252011 | MITOCHONDRIAL COMPLEX II DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 3 | SDHA, SDHAF1, SDHD |
| 256000 | LEIGH SYNDROME | OMIM, HUMSAVAR | link to OMIM | 27 | MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, FOXRED1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, SURF1, NDUFS4, NDUFA9 |
| 604287 | CARNEY TRIAD | ClinVar | link to OMIM | 3 | SDHA, SDHB, SDHC |
| PS168000 | PARAGANGLIOMAS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | SDHC, SDHA, SDHD, SDHB, SDHAF2 |
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 |
|---|---|---|
| coenzyme binding | GO:0050662 | 4.53 |
| flavin adenine dinucleotide binding | GO:0050660 | 5.41 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| oxidoreductase activity, acting on the CH-CH group of donors | GO:0016627 | 5.66 |
| 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 |
| nucleotide binding | GO:0000166 | 1.96 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| succinate dehydrogenase activity | GO:0000104 | 8.13 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| oxidoreductase activity | GO:0016491 | 3.12 |