Disease ID | Disease name | Source of annotation with SCO1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
220110 | MITOCHONDRIAL COMPLEX IV DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 12 | SCO1, MT-CO2, PET100, TACO1, COX6B1, MT-CO1, COX14, APOPT1, COX20, FASTKD2, COX8A, COX10 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Transcriptional Regulation by TP53 | R-HSA-3700989 | 6.73 |
Respiratory electron transport | R-HSA-611105 | 6.44 |
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | R-HSA-163200 | 6.12 |
Generic Transcription Pathway | R-HSA-212436 | 3.86 |
The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
Metabolism | R-HSA-1430728 | 2.34 |
Gene Expression | R-HSA-74160 | 2.72 |
TP53 Regulates Metabolic Genes | R-HSA-5628897 | 6.73 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
copper ion binding | GO:0005507 | 5.71 |
transition metal ion binding | GO:0046914 | 2.48 |
ion binding | GO:0043167 | 1.36 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |