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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Srd5a3 and Kahrizi syndrome 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 SRD5A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Kahrizi syndrome  (DOID:0050807)
  • 10 papers in RGD have been used to annotate Srd5a3


  • An association has been curated linking Srd5a3 and Kahrizi syndrome 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 SRD5A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Kahrizi syndrome  (DOID:0050807)
  • 10 papers in RGD have been used to annotate Srd5a3
  • Curation Notes: ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE
  • Original References(s): PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31638560 PMID:32581362


  • An association has been curated linking Srd5a3 and Kahrizi syndrome 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 SRD5A3 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Kahrizi syndrome  (DOID:0050807)
  • 10 papers in RGD have been used to annotate Srd5a3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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