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GENE - TERM ANNOTATION REPORT

RGD ID: 61995
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pten
Name: phosphatase and tensin homolog
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)
Pten ISOPTEN (Homo sapiens)12859034RGDDNA:missense mutation:cds:p.M134I (human) 
Pten ISOPTEN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MacrocephalyPMID:10772390 PMID:21828076 PMID:25741868 PMID:28492532
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