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GENE - TERM ANNOTATION REPORT

RGD ID: 11701118
Species: Pan paniscus
RGD Object: Gene
Symbol: NFS1
Name: NFS1 cysteine desulfurase
Acc ID: DOID:0070425
Term: combined oxidative phosphorylation deficiency 52
Definition: A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/24498631/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/33457206/ "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)
NFS1 ISONFS1 (Homo sapiens)7240710OMIM  
NFS1 ISONFS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52PMID:16199547 PMID:24498631 PMID:25741868 PMID:28492532 PMID:33457206
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