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GENE - TERM ANNOTATION REPORT

RGD ID: 1587441
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Immp1l
Name: inner mitochondrial membrane peptidase subunit 1
Acc ID: DOID:0070532
Term: aniridia 1
Definition: An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. (DO)
Definition Source(s): https://eyewiki.org/Aniridia "DO" "DO", PMID:12721955 "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)
Immp1l ISOIMMP1L (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Aniridia 1PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532
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