| Disease ID | Disease name | Source of annotation with ERCC5 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 278780 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ERCC5 |
| PS214150 | CEREBROOCULOFACIOSKELETAL SYNDROME | ClinVar, OMIM | link to OMIM | 4 | ERCC1, ERCC5, ERCC6, ERCC2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Nucleotide excision repair | hsa03420 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Global Genomic NER (GG-NER) | R-HSA-109970 | 7.89 |
| 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 |
| Transcription-coupled NER (TC-NER) | R-HSA-73937 | 7.49 |
| Formation of incision complex in GG-NER | R-HSA-73935 | 8.59 |
| Dual incision reaction in GG-NER | R-HSA-73941 | 8.59 |
| DNA Repair | R-HSA-73894 | 5.8 |
| Nucleotide Excision Repair | R-HSA-73885 | 7.34 |
| GO term | GO ID | GO IC |
|---|---|---|
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| cation binding | GO:0043169 | 1.4 |
| structure-specific DNA binding | GO:0043566 | 4.98 |
| endodeoxyribonuclease activity | GO:0004520 | 5.81 |
| ion binding | GO:0043167 | 1.36 |
| double-stranded DNA binding | GO:0003690 | 3.09 |
| metal ion binding | GO:0046872 | 1.41 |
| single-stranded DNA binding | GO:0003697 | 5.17 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| hydrolase activity | GO:0016787 | 1.9 |
| DNA secondary structure binding | GO:0000217 | 6.6 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| catalytic activity | GO:0003824 | 1.05 |
| protein N-terminus binding | GO:0047485 | 5.11 |
| bubble DNA binding | GO:0000405 | 7.79 |
| nuclease activity | GO:0004518 | 4.33 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| deoxyribonuclease activity | GO:0004536 | 5.48 |
| protein binding | GO:0005515 | 0.46 |
| endonuclease activity | GO:0004519 | 4.78 |
| protein dimerization activity | GO:0046983 | 2.72 |