| Disease ID | Disease name | Source of annotation with ERCC8 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 216400 | COCKAYNE SYNDROME A | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ERCC8 |
| PS600630 | UV-SENSITIVE SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | UVSSA, ERCC8, ERCC6 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Ubiquitin mediated proteolysis | hsa04120 | 5.63 |
| Nucleotide excision repair | hsa03420 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Transcription-coupled NER (TC-NER) | R-HSA-73937 | 7.49 |
| DNA Repair | R-HSA-73894 | 5.8 |
| Nucleotide Excision Repair | R-HSA-73885 | 7.34 |
| Dual incision reaction in TC-NER | R-HSA-110304 | 8.12 |
| Formation of transcription-coupled NER (TC-NER) repair complex | R-HSA-110302 | 8.12 |
| GO term | GO ID | GO IC |
|---|---|---|
| ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
| DNA-dependent ATPase activity | GO:0008094 | 5.31 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| ATPase activity | GO:0016887 | 3.65 |
| ATPase activity, coupled | GO:0042623 | 3.97 |
| hydrolase activity | GO:0016787 | 1.9 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| catalytic activity | GO:0003824 | 1.05 |
| helicase activity | GO:0004386 | 4.69 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| transferase activity | GO:0016740 | 1.95 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein complex binding | GO:0032403 | 3.09 |
| DNA helicase activity | GO:0003678 | 5.73 |
| ubiquitin-protein transferase activity | GO:0004842 | 3.73 |