Metazoan complexes |
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Details of EYA1 gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| EYA1 | --- | Q99502 | EYA1_HUMAN | 2138 | ENSG00000104313 | Eyes absent homolog 1 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Branchiootorenal syndrome 1 (BOR1) [MIM:113650]: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. Note=The disease is caused by mutations affecting the gene represented in this entry. | 113650 | Otofaciocervical syndrome (OFCS) [MIM:166780]: Characterized by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR. Note=The disease is caused by mutations affecting the gene represented in this entry. | 166780 | Branchiootic syndrome 1 (BOS1) [MIM:602588]: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients. Note=The disease is caused by mutations affecting the gene represented in this entry. | 602588 | Anterior segment anomalies with or without cataract (ASA) [MIM:602588]: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. Note=The disease is caused by mutations affecting the gene represented in this entry. | 602588 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Eya1 | eya | C49A1.4 | SPU_013869 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
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Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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