Disease ID | Disease name | Source of annotation with PDSS1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS607426 | COENZYME Q10 DEFICIENCY, PRIMARY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | PDSS1, ADCK3, COQ9, COQ4, COQ2, PDSS2, COQ6, COQ7 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Terpenoid backbone biosynthesis | hsa00900 | 8.31 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Metabolism | R-HSA-1430728 | 2.34 |
Ubiquinol biosynthesis | R-HSA-2142789 | 10.18 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
metal ion binding | GO:0046872 | 1.41 |
trans-hexaprenyltranstransferase activity | GO:0000010 | 9.05 |
transferase activity, transferring alkyl or aryl (other than methyl) groups | GO:0016765 | 5.58 |
protein heterodimerization activity | GO:0046982 | 3.64 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
protein dimerization activity | GO:0046983 | 2.72 |
trans-octaprenyltranstransferase activity | GO:0050347 | 9.05 |