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GENE - TERM ANNOTATION REPORT

RGD ID: 18354019
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: NDUFAF2
Name: NADH:ubiquinone oxidoreductase complex assembly factor 2
Acc ID: DOID:2962
Term: Cockayne syndrome
Definition: A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cockayne_syndrome "DO" "DO", https://medlineplus.gov/genetics/condition/cockayne-syndrome/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1342/ "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)
NDUFAF2 ISONDUFAF2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanismPMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:24033266 PMID:25333069 PMID:25741868 PMID:28492532 PMID:29572252
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