| Disease ID | Disease name | Source of annotation with PAX3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 268220 | RHABDOMYOSARCOMA 2 | OMIM | link to OMIM | 3 | FOXO1, PAX7, PAX3 |
| 142340 | DIAPHRAGMATIC HERNIA, CONGENITAL | ClinVar | link to OMIM | 4 | DES, FREM1, MET, PAX3 |
| 122880 | CRANIOFACIAL-DEAFNESS-HAND SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PAX3 |
| PS193500 | WAARDENBURG SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | PAX3, EDN3, EDNRB, MITF, SOX10, TYR, SNAI2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Transcriptional misregulation in cancer | hsa05202 | 5.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| HATs acetylate histones | R-HSA-3214847 | 6.23 |
| Chromatin organization | R-HSA-4839726 | 5.19 |
| Chromatin modifying enzymes | R-HSA-3247509 | 5.19 |
| GO term | GO ID | GO IC |
|---|---|---|
| sequence-specific DNA binding | GO:0043565 | 2.79 |
| nucleic acid binding | GO:0003676 | 1.44 |
| transcription factor activity, sequence-specific DNA binding | GO:0003700 | 2.65 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| nucleic acid binding transcription factor activity | GO:0001071 | 2.65 |
| protein binding | GO:0005515 | 0.46 |
| DNA binding | GO:0003677 | 1.92 |
| HMG box domain binding | GO:0071837 | 6.85 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| protein domain specific binding | GO:0019904 | 3.32 |
| binding | GO:0005488 | 0.18 |