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GENE - TERM ANNOTATION REPORT

RGD ID: 1558381
Species: Mus musculus
RGD Object: Gene
Symbol: Znhit3
Name: zinc finger, HIT type 3
Acc ID: DOID:0080539
Term: PEHO syndrome
Definition: A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/PEHO_syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/28335020 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30385166 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/31048081 "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)
Znhit3 ISOZNHIT3 (Homo sapiens)7240710OMIM  
Znhit3 ISOZNHIT3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Znhit3 ISOZNHIT3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndromePMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081
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