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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Dhh and 46,XY complete gonadal dysgenesis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Umehara F, etal., Am J Hum Genet. 2000 Nov;67(5):1302-5. Epub 2000 Oct 2.
  • The annotation has been inferred from sequence orthology with DHH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Umehara F, etal., Am J Hum Genet. 2000 Nov;67(5):1302-5. Epub 2000 Oct 2.
  • 20 RGD objects have been annotated to 46,XY complete gonadal dysgenesis  (DOID:14448)
  • 18 papers in RGD have been used to annotate Dhh
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutation:exon


    • An association has been curated linking Dhh and 46,XY complete gonadal dysgenesis 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 DHH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 20 RGD objects have been annotated to 46,XY complete gonadal dysgenesis  (DOID:14448)
  • 18 papers in RGD have been used to annotate Dhh
  • Curation Notes: ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD


    • An association has been curated linking Dhh and 46,XY complete gonadal dysgenesis 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 Dhh (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 20 RGD objects have been annotated to 46,XY complete gonadal dysgenesis  (DOID:14448)
  • 18 papers in RGD have been used to annotate Dhh
  • Curation Notes: OMIM:154230 | OMIM:233420 | OMIM:300018 | OMIM:400044 | OMIM:607080 | OMIM:612965 | OMIM:613080 | OMIM:613762 | OMIM:614279 | OMIM:616067


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