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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CYP11A1 and congenital adrenal insufficiency in Canis lupus familiaris.        

  • 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 CYP11A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital adrenal insufficiency  (DOID:0050546)
  • 0 papers in RGD have been used to annotate CYP11A1


    • An association has been curated linking CYP11A1 and congenital adrenal insufficiency in Canis lupus familiaris.        

  • 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 CYP11A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital adrenal insufficiency  (DOID:0050546)
  • 0 papers in RGD have been used to annotate CYP11A1
  • Curation Notes: ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY
  • Original References(s): PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:17576681 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:23337730 PMID:24033266 PMID:25741868 PMID:26300845 PMID:28492532 PMID:29178636 PMID:30233493 PMID:30299480 PMID:30620006 PMID:31289154 PMID:34281122 PMID:9536098


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