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# | Reference Title | Reference Citation |
1. | Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. | Abdelhak S, etal., Hum Mol Genet. 1997 Dec;6(13):2247-55. |
2. | Expression of Eya1 and Six1 is decreased in distal airways of rats with experimental pulmonary hypoplasia. | Friedmacher F, etal., J Pediatr Surg. 2014 Feb;49(2):301-4. doi: 10.1016/j.jpedsurg.2013.11.043. Epub 2013 Nov 18. |
3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
4. | A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. | Guo C, etal., J Clin Invest. 2011 Apr;121(4):1585-95. doi: 10.1172/JCI44630. |
5. | EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. | Okada M, etal., Pediatr Nephrol. 2006 Apr;21(4):475-81. Epub 2006 Feb 21. |
6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
7. | Push back to respond better: regulatory inhibition of the DNA double-strand break response. | Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4. |
8. | GOA pipeline | RGD automated data pipeline |
9. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
11. | Comprehensive gene review and curation | RGD comprehensive gene curation |
12. | Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. | Sanggaard KM, etal., Eur J Hum Genet. 2007 Nov;15(11):1121-31. Epub 2007 Jul 18. |
13. | Muscle-fiber transdifferentiation in an experimental model of respiratory chain myopathy. | Venhoff N, etal., Arthritis Res Ther. 2012 Oct 29;14(5):R233. |
PMID:10072433 | PMID:10471511 | PMID:12070080 | PMID:12783782 | PMID:14628052 | PMID:15496442 | PMID:15817220 | PMID:16018995 | PMID:16024294 | PMID:16530750 | PMID:16916509 | PMID:16990542 |
PMID:17098221 | PMID:17785448 | PMID:19234442 | PMID:19497856 | PMID:21936910 | PMID:22513373 |
Eya1 (Rattus norvegicus - Norway rat) |
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EYA1 (Homo sapiens - human) |
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Eya1 (Mus musculus - house mouse) |
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Eya1 (Chinchilla lanigera - long-tailed chinchilla) |
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EYA1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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EYA1 (Canis lupus familiaris - dog) |
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Eya1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EYA1 (Sus scrofa - pig) |
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EYA1 (Chlorocebus sabaeus - green monkey) |
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Eya1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Eya1
2020 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH131160 |
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BE118841 |
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Eya1 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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12 | 12 | 67 | 153 | 62 | 61 | 30 | 41 | 30 | 6 | 272 | 141 | 11 | 131 | 81 | 90 | 31 | 13 | 13 |
RefSeq Transcripts | NM_001427021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006225171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006225172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006225174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006225175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006225177 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008775886 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017593674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017593675 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017593676 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110905 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110906 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110908 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110911 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110913 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110914 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110916 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063288306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063288307 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063288308 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063288309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001843561 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001843562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_010066461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH473984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000064946 ⟹ ENSRNOP00000063439 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000082717 ⟹ ENSRNOP00000070005 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000120692 ⟹ ENSRNOP00000098324 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000120693 ⟹ ENSRNOP00000098325 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000120694 ⟹ ENSRNOP00000098326 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000120695 ⟹ ENSRNOP00000098327 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001427021 ⟹ NP_001413950 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039110905 ⟹ XP_038966833 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110906 ⟹ XP_038966834 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110907 ⟹ XP_038966835 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110908 ⟹ XP_038966836 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110909 ⟹ XP_038966837 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110911 ⟹ XP_038966839 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110912 ⟹ XP_038966840 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110913 ⟹ XP_038966841 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110914 ⟹ XP_038966842 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110916 ⟹ XP_038966844 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063288306 ⟹ XP_063144376 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063288307 ⟹ XP_063144377 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063288308 ⟹ XP_063144378 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063288309 ⟹ XP_063144379 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_010066461 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001413950 | (Get FASTA) | NCBI Sequence Viewer |
XP_038966833 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966834 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966835 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966836 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966837 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966839 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966840 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966841 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966842 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966844 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063144376 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063144377 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063144378 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063144379 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDM11523 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000063439 | ||
ENSRNOP00000063439.4 | |||
ENSRNOP00000070005 | |||
ENSRNOP00000070005.2 | |||
ENSRNOP00000098324 | |||
ENSRNOP00000098325 | |||
ENSRNOP00000098326 | |||
ENSRNOP00000098327 |
Ensembl Acc Id: | ENSRNOP00000070005 ⟸ ENSRNOT00000082717 |
Ensembl Acc Id: | ENSRNOP00000063439 ⟸ ENSRNOT00000064946 |
RefSeq Acc Id: | XP_038966833 ⟸ XM_039110905 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038966835 ⟸ XM_039110907 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038966837 ⟸ XM_039110909 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038966836 ⟸ XM_039110908 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038966834 ⟸ XM_039110906 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038966841 ⟸ XM_039110913 |
- Peptide Label: | isoform X6 |
- UniProtKB: | D3ZVI5 (UniProtKB/TrEMBL), A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038966839 ⟸ XM_039110911 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038966840 ⟸ XM_039110912 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038966842 ⟸ XM_039110914 |
- Peptide Label: | isoform X10 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038966844 ⟸ XM_039110916 |
- Peptide Label: | isoform X11 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001413950 ⟸ NM_001427021 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063144379 ⟸ XM_063288309 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063144378 ⟸ XM_063288308 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063144376 ⟸ XM_063288306 |
- Peptide Label: | isoform X6 |
- UniProtKB: | D3ZVI5 (UniProtKB/TrEMBL), A0A0G2JWT3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063144377 ⟸ XM_063288307 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A0G2JWT3 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSRNOP00000098327 ⟸ ENSRNOT00000120695 |
Ensembl Acc Id: | ENSRNOP00000098325 ⟸ ENSRNOT00000120693 |
Ensembl Acc Id: | ENSRNOP00000098324 ⟸ ENSRNOT00000120692 |
Ensembl Acc Id: | ENSRNOP00000098326 ⟸ ENSRNOT00000120694 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D3ZVI5-F1-model_v2 | AlphaFold | D3ZVI5 | 1-592 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1584849 | AgrOrtholog |
BioCyc Gene | G2FUF-42274 | BioCyc |
Ensembl Genes | ENSRNOG00000007590 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000064946 | ENTREZGENE |
ENSRNOT00000064946.4 | UniProtKB/TrEMBL | |
ENSRNOT00000082717 | ENTREZGENE | |
ENSRNOT00000082717.2 | UniProtKB/TrEMBL | |
ENSRNOT00000120692 | ENTREZGENE | |
ENSRNOT00000120693 | ENTREZGENE | |
ENSRNOT00000120694 | ENTREZGENE | |
ENSRNOT00000120695 | ENTREZGENE | |
Gene3D-CATH | 3.40.50.12350 | UniProtKB/TrEMBL |
InterPro | EYA_dom | UniProtKB/TrEMBL |
EYA_dom_metazoan | UniProtKB/TrEMBL | |
EYA_dom_sf | UniProtKB/TrEMBL | |
EYA_fam | UniProtKB/TrEMBL | |
NCBI Gene | 502935 | ENTREZGENE |
PANTHER | PTHR10190 | UniProtKB/TrEMBL |
PTHR10190:SF11 | UniProtKB/TrEMBL | |
Pfam | Hydrolase | UniProtKB/TrEMBL |
PhenoGen | Eya1 | PhenoGen |
RatGTEx | ENSRNOG00000007590 | RatGTEx |
UniProt | A0A0G2JWT3 | ENTREZGENE, UniProtKB/TrEMBL |
D3ZVI5 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2021-03-09 | Eya1 | EYA transcriptional coactivator and phosphatase 1 | LOC108350919 | uncharacterized LOC108350919 | Data merged from RGD:11376464 | 737654 | PROVISIONAL |
2016-08-02 | LOC108350919 | uncharacterized LOC108350919 | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2014-06-25 | Eya1 | EYA transcriptional coactivator and phosphatase 1 | Eya1 | eyes absent homolog 1 (Drosophila) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-10-29 | Eya1 | eyes absent homolog 1 (Drosophila) | Eya1 | eyes absent 1 homolog (Drosophila) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-03-05 | Eya1 | eyes absent 1 homolog (Drosophila) | LOC502935 | similar to eyes absent 1 isoform a | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-11-19 | LOC502935 | similar to eyes absent 1 isoform a | Symbol and Name status set to provisional | 70820 | PROVISIONAL |