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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Tshb and hypothyroidism in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Dacou-Voutetakis C, etal., Am J Hum Genet 1990 May;46(5):988-93.
  • The annotation has been inferred from sequence orthology with TSHB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Dacou-Voutetakis C, etal., Am J Hum Genet 1990 May;46(5):988-93.
  • 336 RGD objects have been annotated to hypothyroidism  (DOID:1459)
  • 22 papers in RGD have been used to annotate Tshb
  • Curation Notes: DNA:nonsense mutation:exon:94G>T (p.E11X) (human)


    • An association has been curated linking Tshb and hypothyroidism 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 TSHB (Homo sapiens) [(EXP) inferred from experiment]
  • 336 RGD objects have been annotated to hypothyroidism  (DOID:1459)
  • 22 papers in RGD have been used to annotate Tshb
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:18031379 PMID:24729111


    • An association has been curated linking Tshb and hypothyroidism 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 TSHB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 336 RGD objects have been annotated to hypothyroidism  (DOID:1459)
  • 22 papers in RGD have been used to annotate Tshb
  • Curation Notes: ClinVar Annotator: match by term: TSH deficiency
  • Original References(s): PMID:11297590 PMID:11549695 PMID:11788671 PMID:12364478 PMID:15292359 PMID:15297803 PMID:17576681 PMID:1971148 PMID:22606512 PMID:24423284 PMID:25741868 PMID:25950606 PMID:26416826 PMID:27362444 PMID:27387040 PMID:2792087 PMID:28492532 PMID:31166470 PMID:34780050 PMID:8636437 PMID:9536098 PMID:9589689


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