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GENE - TERM ANNOTATION REPORT

RGD ID: 1304781
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Trit1
Name: tRNA isopentenyltransferase 1
Acc ID: DOID:9003816
Term: Macrocephaly
Definition: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).
Definition Source(s): MESH:D058627
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)
Trit1 ISOTRIT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MacrocephalyPMID:25741868 PMID:30977854 PMID:36047296
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