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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Bcs1l and Bjornstad syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with BCS1L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Bjornstad syndrome  (DOID:0050677)
  • 10 papers in RGD have been used to annotate Bcs1l


    • An association has been curated linking Bcs1l and Bjornstad syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with BCS1L (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Bjornstad syndrome  (DOID:0050677)
  • 10 papers in RGD have been used to annotate Bcs1l
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Bcs1l and Bjornstad syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with BCS1L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Bjornstad syndrome  (DOID:0050677)
  • 10 papers in RGD have been used to annotate Bcs1l
  • Curation Notes: ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome
  • Original References(s): PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22277967 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31316545 PMID:31435670 PMID:32581362 PMID:34650211 PMID:34662929 PMID:9545407


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