| GENE NAME | EYA1 |
| CHROMOSOME | 8 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000104313 |
| UNIPROT ACCESSION NUMBER | Q99502 |
| GO MOLECULAR FUNCTION | ['RNA binding', 'protein tyrosine phosphatase activity', 'protein binding', 'metal ion binding', 'protein serine/threonine phosphatase activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa05202; hsa05202; R-HSA-5693532; R-HSA-5693565; R-HSA-5693606; R-HSA-73894 |
| 5 combinations linked to EYA1 | OLI602; OLI1089; OLI1314; OLI1090; OLI1490 |
| 5 variants linked to EYA1 | EYA1:c.531T>C, p.Ser210=; EYA1:c.1082G>A, p.Arg361Gln; EYA1:c.890G>A, p.Arg297Gln; EYA1:c.1276G>A, p.Gly426Ser; EYA1:c.743C>T, p.Thr248Met |
| 3 diseases linked to EYA1 | Rare genetic deafness; Congenital hypothyroidism; Disorder of sex development |