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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Hsd17b3 and 17-beta hydroxysteroid dehydrogenase 3 deficiency in Rattus norvegicus.        

  • 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 HSD17B3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to 17-beta hydroxysteroid dehydrogenase 3 deficiency  (DOID:0112248)
  • 41 papers in RGD have been used to annotate Hsd17b3


    • An association has been curated linking Hsd17b3 and 17-beta hydroxysteroid dehydrogenase 3 deficiency 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 HSD17B3 (Homo sapiens) [(EXP) inferred from experiment]
  • 6 RGD objects have been annotated to 17-beta hydroxysteroid dehydrogenase 3 deficiency  (DOID:0112248)
  • 41 papers in RGD have been used to annotate Hsd17b3
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:25526675


    • An association has been curated linking Hsd17b3 and 17-beta hydroxysteroid dehydrogenase 3 deficiency in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Hsd17b3 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to 17-beta hydroxysteroid dehydrogenase 3 deficiency  (DOID:0112248)
  • 41 papers in RGD have been used to annotate Hsd17b3
  • Curation Notes: OMIM:264300


    • An association has been curated linking Hsd17b3 and 17-beta hydroxysteroid dehydrogenase 3 deficiency 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 HSD17B3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to 17-beta hydroxysteroid dehydrogenase 3 deficiency  (DOID:0112248)
  • 41 papers in RGD have been used to annotate Hsd17b3
  • Curation Notes: ClinVar Annotator: match by term: HSD17B3-related condition | ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
  • Original References(s): PMID:10022457 PMID:10599740 PMID:11158067 PMID:12429500 PMID:16199547 PMID:17466011 PMID:17509588 PMID:17551466 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:22445608 PMID:23295294 PMID:23796702 PMID:24025597 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25740850 PMID:25741868 PMID:26956191 PMID:27073926 PMID:27163392 PMID:27307783 PMID:27898418 PMID:27899157 PMID:28492532 PMID:28617986 PMID:28739554 PMID:2918056 PMID:29397602 PMID:3066852 PMID:30668521 PMID:31589614 PMID:31614207 PMID:32297288 PMID:32372306 PMID:32449406 PMID:33468338 PMID:33516834 PMID:33742552 PMID:33984517 PMID:34009138 PMID:35432193 PMID:36110220 PMID:36154887 PMID:36606580 PMID:37741351 PMID:598011 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445


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