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Online Mendelian Inheritance in Man
Preferred Name | EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 1 | |
Synonyms |
BRANCHIOOTORENAL SYNDROME 1 BRANCHIOOTIC SYNDROME 1 BRANCHIOOTORENAL SYNDROME WITH CATARACT EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1 ANTERIOR SEGMENT ANOMALIES AND CATARACT ANTERIOR SEGMENT ANOMALIES OTOFACIOCERVICAL SYNDROME 1 EYES ABSENT 1 EYA1 |
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ID |
http://purl.bioontology.org/ontology/OMIM/601653 |
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altLabel |
BRANCHIOOTORENAL SYNDROME 1 BRANCHIOOTIC SYNDROME 1 BRANCHIOOTORENAL SYNDROME WITH CATARACT EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1 ANTERIOR SEGMENT ANOMALIES AND CATARACT ANTERIOR SEGMENT ANOMALIES OTOFACIOCERVICAL SYNDROME 1 EYES ABSENT 1 EYA1
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cui |
C4551702 C1414490 C1865143 C4016752 C4048228 C4016751 C3714941
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Gene Locus |
8q13.3
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Gene Symbol |
BOR OFC1 EYA1 BOS1
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Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/601653.0008 http://purl.bioontology.org/ontology/OMIM/601653.0003 http://purl.bioontology.org/ontology/OMIM/601653.0006 http://purl.bioontology.org/ontology/OMIM/601653.0005 http://purl.bioontology.org/ontology/OMIM/601653.0009 http://purl.bioontology.org/ontology/OMIM/601653.0001 http://purl.bioontology.org/ontology/OMIM/601653.0004 http://purl.bioontology.org/ontology/OMIM/601653.0002 http://purl.bioontology.org/ontology/OMIM/601653.0007 http://purl.bioontology.org/ontology/OMIM/601653.0012 http://purl.bioontology.org/ontology/OMIM/601653.0015 http://purl.bioontology.org/ontology/OMIM/601653.0017 http://purl.bioontology.org/ontology/OMIM/601653.0013 http://purl.bioontology.org/ontology/OMIM/601653.0010 http://purl.bioontology.org/ontology/OMIM/601653.0011 |
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MIMTYPEMEANING |
Gene with known sequence
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notation |
601653
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OMIM Entry Type |
1
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OMIM MimType Value |
star
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prefLabel |
EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 1
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tui |
T047 T033 T019 T028
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