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GENE - TERM ANNOTATION REPORT

RGD ID: 1584849
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Eya1
Name: EYA transcriptional coactivator and phosphatase 1
Acc ID: DOID:14702
Term: branchiootorenal syndrome
Definition: A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/263442 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Eya1 ISOEYA1 (Homo sapiens)1598917RGD  
Eya1 ISOEYA1 (Homo sapiens)8554880RGDDNA:deletion,mutations:exons, IVS:c.920delG, c.1773C>G(p.Y591X),IVS10-1G>A (1141-1G>A),IVS12+4A>G (c.1360+4A>G)(human) 
Eya1 ISOEYA1 (Homo sapiens)8554897RGDDNA:mutations:exons,introns:multiple 
Eya1 ISOEYA1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12834866
Eya1 ISOEYA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Branchiootorenal syndrome | ClinVar Annotator: match by term: Branchiootorenal syndrome with cataract | ClinVar Annotator: match by term: Melnick-Fraser syndromePMID:10429368 PMID:10464653 PMID:10655545 PMID:10991693 PMID:11683347 PMID:11734542 PMID:12404110 PMID:15146463 PMID:15802522 PMID:16199547 PMID:16441263 PMID:16491411 PMID:16691597 PMID:16797546 PMID:17364338 PMID:17576681 PMID:17637804 PMID:18065799 PMID:18177466 PMID:18220287 PMID:18678597 PMID:19206155 PMID:19951260 PMID:20848651 PMID:21280147 PMID:22340499 PMID:22382802 PMID:22447252 PMID:23435380 PMID:23508780 PMID:23552953 PMID:23840632 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24429398 PMID:24489909 PMID:25107291 PMID:25741868 PMID:26310487 PMID:26467025 PMID:26489027 PMID:26667035 PMID:26969326 PMID:27657687 PMID:2773990 PMID:28289595 PMID:28492532 PMID:28832562 PMID:29500469 PMID:29966037 PMID:30268946 PMID:30311386 PMID:30655312 PMID:30937553 PMID:31427586 PMID:33240318 PMID:34031707 PMID:34160378 PMID:35046468 PMID:35982127 PMID:8566479 PMID:9020840 PMID:9361030 PMID:9536098 PMID:9603436
Eya1 ISSEya1 (Mus musculus)13592920MouseDO  
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