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GENE - TERM ANNOTATION REPORT

RGD ID: 1359658
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bcs1l
Name: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
Acc ID: DOID:0111455
Term: GRACILE syndrome
Definition: A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12215968 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9482441 "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)
Bcs1l ISOBCS1L (Homo sapiens)7240710OMIM  
Bcs1l ISOBCS1L (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Bcs1l ISOBCS1L (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GRACILE syndromePMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:33511646 PMID:34662929 PMID:9545407
Bcs1l ISSBcs1l (Mus musculus)13592920MouseDOOMIM:603358 
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