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GENE - TERM ANNOTATION REPORT

RGD ID: 1317242
Species: Mus musculus
RGD Object: Gene
Symbol: Nfu1
Name: NFU1 iron-sulfur cluster scaffold
Acc ID: DOID:0080133
Term: multiple mitochondrial dysfunctions syndrome 1
Definition: A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22077971 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/28470589 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29441221 "DO" "DO", https://www.omim.org/entry/605711 "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)
Nfu1 ISONFU1 (Homo sapiens)7240710OMIM  
Nfu1 ISONFU1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 1 | ClinVar Annotator: match by term: NFU1-related conditionPMID:11156534 PMID:16199547 PMID:17576681 PMID:21944046 PMID:22077971 PMID:24033266 PMID:25477904 PMID:25640679 PMID:25741868 PMID:25758857 PMID:25918518 PMID:28161430 PMID:28470589 PMID:28492532 PMID:28803783 PMID:29441221 PMID:31461310 PMID:31970900 PMID:32776106 PMID:9536098
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