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GENE - TERM ANNOTATION REPORT

RGD ID: 14295284
Species: Sus scrofa
RGD Object: Gene
Symbol: NDUFAF2
Name: NADH:ubiquinone oxidoreductase complex assembly factor 2
Acc ID: DOID:0080907
Term: Cockayne syndrome A
Definition: A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/cockayne-syndrome/ "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 type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1PMID:14661080 PMID:15744458 PMID:18180188 PMID:19329487 PMID:19384974 PMID:19894250 PMID:20571988 PMID:21681106 PMID:21924235 PMID:22099533 PMID:24033266 PMID:25333069 PMID:25741868 PMID:27597947 PMID:28492532 PMID:29572252
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