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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Pex7 and rhizomelic chondrodysplasia punctata type 1 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 PEX7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to rhizomelic chondrodysplasia punctata type 1  (DOID:0110851)
  • 9 papers in RGD have been used to annotate Pex7


    • An association has been curated linking Pex7 and rhizomelic chondrodysplasia punctata type 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Brites P, etal., Hum Mol Genet. 2003 Sep 15;12(18):2255-67. Epub 2003 Jul 15.
  • The annotation has been inferred from sequence orthology with Pex7 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Brites P, etal., Hum Mol Genet. 2003 Sep 15;12(18):2255-67. Epub 2003 Jul 15.
  • 1 RGD objects have been annotated to rhizomelic chondrodysplasia punctata type 1  (DOID:0110851)
  • 9 papers in RGD have been used to annotate Pex7


    • An association has been curated linking Pex7 and rhizomelic chondrodysplasia punctata type 1 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 PEX7 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to rhizomelic chondrodysplasia punctata type 1  (DOID:0110851)
  • 9 papers in RGD have been used to annotate Pex7
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11781871 PMID:12522768


    • An association has been curated linking Pex7 and rhizomelic chondrodysplasia punctata type 1 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 PEX7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to rhizomelic chondrodysplasia punctata type 1  (DOID:0110851)
  • 9 papers in RGD have been used to annotate Pex7
  • Curation Notes: ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 9 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1
  • Original References(s): PMID:10083738 PMID:10527683 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12054588 PMID:12325024 PMID:12522768 PMID:14974078 PMID:16199547 PMID:17325280 PMID:17576681 PMID:1773541 PMID:20145307 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:22057399 PMID:23352163 PMID:23572185 PMID:24172221 PMID:25741868 PMID:25741905 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 PMID:31964843 PMID:31980526 PMID:34229749 PMID:34671977 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9472033 PMID:9536098 PMID:9686382


    • An association has been curated linking Pex7 and rhizomelic chondrodysplasia punctata type 1 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 Pex7 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to rhizomelic chondrodysplasia punctata type 1  (DOID:0110851)
  • 9 papers in RGD have been used to annotate Pex7
  • Curation Notes: OMIM:215100


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