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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Bche and Butyrylcholinesterase Deficiency in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from McGuire MC, etal., Proc Natl Acad Sci U S A. 1989 Feb;86(3):953-7.
  • The annotation has been inferred from sequence orthology with BCHE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from McGuire MC, etal., Proc Natl Acad Sci U S A. 1989 Feb;86(3):953-7.
  • 2 RGD objects have been annotated to Butyrylcholinesterase Deficiency  (DOID:9000441)
  • 41 papers in RGD have been used to annotate Bche


    • An association has been curated linking Bche and Butyrylcholinesterase Deficiency in Mus musculus.        

  • 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 BCHE (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Butyrylcholinesterase Deficiency  (DOID:9000441)
  • 41 papers in RGD have been used to annotate Bche
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:9110359 PMID:12881446 PMID:16788378 PMID:18075469 PMID:25054547


    • An association has been curated linking Bche and Butyrylcholinesterase Deficiency in Mus musculus.        

  • 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 BCHE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Butyrylcholinesterase Deficiency  (DOID:9000441)
  • 41 papers in RGD have been used to annotate Bche
  • Qualifier: susceptibility


    • An association has been curated linking Bche and Butyrylcholinesterase Deficiency in Mus musculus.        

  • 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 BCHE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Butyrylcholinesterase Deficiency  (DOID:9000441)
  • 41 papers in RGD have been used to annotate Bche
  • Curation Notes: ClinVar Annotator: match by term: BCHE, H variant | ClinVar Annotator: match by term: BCHE, J variant | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Postanesthetic apnea | ClinVar Annotator: match by term: Pseudocholinesterase E1 deficiency | ClinVar Annotator: match by term: Pseudocholinesterase deficiency
  • Original References(s): PMID:10190327 PMID:10404729 PMID:10446378 PMID:10699053 PMID:11163024 PMID:11575530 PMID:11733654 PMID:12417112 PMID:1271425 PMID:12724618 PMID:12881446 PMID:1306123 PMID:13437188 PMID:13479831 PMID:1349196 PMID:13711731 PMID:1415224 PMID:14404182 PMID:15563885 PMID:15731589 PMID:15781196 PMID:1611188 PMID:16434405 PMID:1662391 PMID:16788378 PMID:17166756 PMID:17700357 PMID:18075469 PMID:18165570 PMID:18300943 PMID:18555211 PMID:2013061 PMID:20589221 PMID:20879632 PMID:21029050 PMID:21228368 PMID:21637541 PMID:22053728 PMID:22378569 PMID:2253336 PMID:22750491 PMID:23123771 PMID:24033266 PMID:25054547 PMID:25264279 PMID:25448037 PMID:25525159 PMID:25741868 PMID:27031121 PMID:27109752 PMID:27551784 PMID:28492532 PMID:2915989 PMID:3169798 PMID:31980526 PMID:33010031 PMID:33024248 PMID:3542989 PMID:416211 PMID:6716425 PMID:7618741 PMID:7634491 PMID:8314794 PMID:8554068 PMID:8601326 PMID:8680411 PMID:9047329 PMID:9058093 PMID:9110359 PMID:9187502 PMID:9191541 PMID:9302273 PMID:9388484 PMID:9543549


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