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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Por and congenital adrenal hyperplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Dhir V, etal., Mol Endocrinol. 2007 Aug;21(8):1958-68. Epub 2007 May 15.
  • The annotation has been inferred from sequence orthology with POR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Dhir V, etal., Mol Endocrinol. 2007 Aug;21(8):1958-68. Epub 2007 May 15.
  • 21 RGD objects have been annotated to congenital adrenal hyperplasia  (DOID:0050811)
  • 41 papers in RGD have been used to annotate Por
  • Curation Notes: DNA:missense mutations:cds:p.A287P, p.H628P (human)


    • An association has been curated linking Por and congenital adrenal hyperplasia 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 POR (Homo sapiens) [(EXP) inferred from experiment]
  • 21 RGD objects have been annotated to congenital adrenal hyperplasia  (DOID:0050811)
  • 41 papers in RGD have been used to annotate Por
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:18559916


    • An association has been curated linking Por and congenital adrenal hyperplasia 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 POR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 21 RGD objects have been annotated to congenital adrenal hyperplasia  (DOID:0050811)
  • 41 papers in RGD have been used to annotate Por
  • Curation Notes: ClinVar Annotator: match by term: Congenital adrenal hyperplasia
  • Original References(s): PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:16199547 PMID:17635179 PMID:18230729 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20410220 PMID:20732302 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22462747 PMID:23365120 PMID:23878291 PMID:25741868 PMID:27068427 PMID:28492532 PMID:31598952 PMID:31888681 PMID:33864926 PMID:34009138 PMID:9360545


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