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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Col6a2 and Ullrich congenital muscular dystrophy 1B in Ictidomys tridecemlineatus.        

  • 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ullrich congenital muscular dystrophy 1B  (DOID:0060942)
  • 0 papers in RGD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B
  • Original References(s): PMID:11381124 PMID:11506412 PMID:12218063 PMID:15563506 PMID:15689448 PMID:16075202 PMID:16935502 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20106987 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22075033 PMID:23326386 PMID:23940025 PMID:24033266 PMID:24038877 PMID:24314752 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27447704 PMID:28492532 PMID:29419890 PMID:34167565 PMID:7695699 PMID:8218237


  • An association has been curated linking Col6a2 and Ullrich congenital muscular dystrophy 1B in Ictidomys tridecemlineatus.        

  • 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ullrich congenital muscular dystrophy 1B  (DOID:0060942)
  • 0 papers in RGD have been used to annotate Col6a2


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