Disease ID | Disease name | Source of annotation with TACO1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
220110 | MITOCHONDRIAL COMPLEX IV DEFICIENCY | OMIM | link to OMIM | 12 | SCO1, MT-CO2, PET100, TACO1, COX6B1, MT-CO1, COX14, APOPT1, COX20, FASTKD2, COX8A, COX10 |
PS601462 | MYASTHENIC SYNDROME, CONGENITAL | ClinVar | link to OMIM | 23 | LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2 |
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 |