| Disease ID | Disease name | Source of annotation with ERCC4 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 278760 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ERCC4 |
| PS227650 | FANCONI ANEMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 18 | BRIP1, FANCL, FANCC, FANCG, FANCB, ERCC4, FANCA, SLX4, FANCI, BRCA2, UBE2T, PALB2, BRCA1, FANCD2, FANCF, FANCM, RAD51C, FANCE |
| 610965 | XFE PROGEROID SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ERCC4 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Fanconi anemia pathway | hsa03460 | 7.01 |
| 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 |
|---|---|---|
| protein C-terminus binding | GO:0008022 | 4.5 |
| 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 |
| TFIID-class transcription factor binding | GO:0001094 | 7.95 |
| RNA polymerase II basal transcription factor binding | GO:0001091 | 7.79 |
| endodeoxyribonuclease activity | GO:0004520 | 5.81 |
| basal transcription machinery binding | GO:0001098 | 6.44 |
| basal RNA polymerase II transcription machinery binding | GO:0001099 | 6.44 |
| single-stranded DNA binding | GO:0003697 | 5.17 |
| hydrolase activity | GO:0016787 | 1.9 |
| transcription factor binding | GO:0008134 | 3.46 |
| structure-specific DNA binding | GO:0043566 | 4.98 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| catalytic activity | GO:0003824 | 1.05 |
| RNA polymerase II transcription factor binding | GO:0001085 | 5.08 |
| single-stranded DNA endodeoxyribonuclease activity | GO:0000014 | 7.79 |
| protein N-terminus binding | GO:0047485 | 5.11 |
| nuclease activity | GO:0004518 | 4.33 |
| endonuclease activity | GO:0004519 | 4.78 |
| deoxyribonuclease activity | GO:0004536 | 5.48 |
| protein binding | GO:0005515 | 0.46 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| damaged DNA binding | GO:0003684 | 5.58 |