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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking SRD5A3 and Kahrizi syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8568678 (Homo sapiens)
  • 2 RGD objects have been annotated to Kahrizi syndrome  (DOID:0050807)
  • 5 papers in RGD have been used to annotate SRD5A3
  • Curation Notes: ClinVar Annotator: match by term: Kahrizi syndrome
  • Original References(s): PMID:18781183 PMID:20700148


    • An association has been curated linking SRD5A3 and Kahrizi syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to Kahrizi syndrome  (DOID:0050807)
  • 5 papers in RGD have been used to annotate SRD5A3


    • An association has been curated linking SRD5A3 and Kahrizi syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8643036 (Homo sapiens)
  • 2 RGD objects have been annotated to Kahrizi syndrome  (DOID:0050807)
  • 5 papers in RGD have been used to annotate SRD5A3
  • Curation Notes: ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE
  • Original References(s): 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 Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 2 RGD objects have been annotated to Kahrizi syndrome  (DOID:0050807)
  • 5 papers in RGD have been used to annotate SRD5A3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking SRD5A3 and Kahrizi syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:126769034|RGD:14693741 (Homo sapiens) & RGD:126769034|RGD:14693741 (Homo sapiens)
  • 2 RGD objects have been annotated to Kahrizi syndrome  (DOID:0050807)
  • 5 papers in RGD have been used to annotate SRD5A3
  • Curation Notes: ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking SRD5A3 and Kahrizi syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:21072353|RGD:28884190 (Homo sapiens) & RGD:21072353|RGD:28884190 (Homo sapiens)
  • 2 RGD objects have been annotated to Kahrizi syndrome  (DOID:0050807)
  • 5 papers in RGD have been used to annotate SRD5A3
  • Curation Notes: ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE
  • Original References(s): PMID:25741868


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