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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking POR and Antley-Bixler syndrome with disordered steroidogenesis in Sus scrofa.        

  • 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 POR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Antley-Bixler syndrome with disordered steroidogenesis  (DOID:0050462)
  • 0 papers in RGD have been used to annotate POR


  • An association has been curated linking POR and Antley-Bixler syndrome with disordered steroidogenesis in Sus scrofa.        

  • 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]
  • 2 RGD objects have been annotated to Antley-Bixler syndrome with disordered steroidogenesis  (DOID:0050462)
  • 0 papers in RGD have been used to annotate POR
  • Curation Notes: ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency
  • Original References(s): PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 PMID:15264278 PMID:15483095 PMID:15793702 PMID:16199547 PMID:16470797 PMID:17576681 PMID:18230729 PMID:18551037 PMID:18559916 PMID:19837910 PMID:20124576 PMID:20188793 PMID:20410220 PMID:20732302 PMID:20940534 PMID:21070833 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22547083 PMID:23878291 PMID:24847272 PMID:25741868 PMID:26670660 PMID:27068427 PMID:28492532 PMID:28841001 PMID:31598952 PMID:31837199 PMID:31888681 PMID:32242900 PMID:33666875 PMID:33864926 PMID:34009138 PMID:9360545 PMID:9536098


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