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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Zmpste24 and restrictive dermopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Moulson CL, etal., J Invest Dermatol. 2005 Nov;125(5):913-9.
  • The annotation has been inferred from sequence orthology with ZMPSTE24 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Moulson CL, etal., J Invest Dermatol. 2005 Nov;125(5):913-9.
  • 4 RGD objects have been annotated to restrictive dermopathy  (DOID:0060762)
  • 11 papers in RGD have been used to annotate Zmpste24
  • Curation Notes: DNA:duplication:exon:c.591dupT (human)


    • An association has been curated linking Zmpste24 and restrictive dermopathy 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 ZMPSTE24 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to restrictive dermopathy  (DOID:0060762)
  • 11 papers in RGD have been used to annotate Zmpste24
  • Curation Notes: ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
  • Original References(s): PMID:12913070 PMID:15317753 PMID:16297189 PMID:17576681 PMID:18414213 PMID:18671782 PMID:19020898 PMID:19504603 PMID:19680556 PMID:20034068 PMID:20101687 PMID:20635340 PMID:21108632 PMID:21488301 PMID:21831885 PMID:22495976 PMID:22718200 PMID:22981120 PMID:24169522 PMID:25629449 PMID:25741868 PMID:26379196 PMID:28492532 PMID:3840649 PMID:8152880 PMID:9536098


    • An association has been curated linking Zmpste24 and restrictive dermopathy 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 ZMPSTE24 (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to restrictive dermopathy  (DOID:0060762)
  • 11 papers in RGD have been used to annotate Zmpste24
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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