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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cyp11b2 and CORTICOSTERONE METHYLOXIDASE TYPE II 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 CYP11B2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY  (DOID:9008415)
  • 36 papers in RGD have been used to annotate Cyp11b2
  • Qualifier: susceptibility


    • An association has been curated linking Cyp11b2 and CORTICOSTERONE METHYLOXIDASE TYPE II 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 CYP11B2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY  (DOID:9008415)
  • 36 papers in RGD have been used to annotate Cyp11b2
  • Curation Notes: ClinVar Annotator: match by term: CMO II DEFICIENCY | ClinVar Annotator: match by term: CYP11B2-related disorder
  • Original References(s): PMID:10965212 PMID:11174838 PMID:11196457 PMID:11549691 PMID:12788848 PMID:1346492 PMID:14250395 PMID:15240589 PMID:1594605 PMID:16118341 PMID:16733366 PMID:17576681 PMID:18710464 PMID:19116236 PMID:2044581 PMID:20494601 PMID:21237269 PMID:22465514 PMID:22565077 PMID:22801770 PMID:22931312 PMID:24033266 PMID:25102047 PMID:25741868 PMID:25968592 PMID:26936515 PMID:26956189 PMID:27125267 PMID:28492532 PMID:29201470 PMID:29582446 PMID:33098647 PMID:7485152 PMID:7792802 PMID:8530633 PMID:8954040 PMID:9360501 PMID:9536098 PMID:9625333 PMID:9703385 PMID:9814506


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