| Disease ID | Disease name | Source of annotation with BCS1L | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 124000 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | BCS1L |
| 262000 | BJORNSTAD SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | BCS1L |
| 256000 | LEIGH SYNDROME | OMIM | 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 |
| 603358 | GRACILE SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | BCS1L |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Mitochondrial protein import | R-HSA-1268020 | 7.28 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| GO term | GO ID | GO IC |
|---|---|---|
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| small molecule binding | GO:0036094 | 1.89 |
| ribonucleotide binding | GO:0032553 | 2.19 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| ATP binding | GO:0005524 | 2.43 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| nucleotide binding | GO:0000166 | 1.96 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| nucleoside binding | GO:0001882 | 2.21 |