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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Col3a1 and Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome in Heterocephalus glaber.        

  • 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 COL3A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome  (DOID:9000950)
  • 0 papers in RGD have been used to annotate Col3a1


    • An association has been curated linking Col3a1 and Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome in Heterocephalus glaber.        

  • 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 COL3A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome  (DOID:9000950)
  • 0 papers in RGD have been used to annotate Col3a1
  • Curation Notes: ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome
  • Original References(s): PMID:11577371 PMID:12131463 PMID:17576681 PMID:18272325 PMID:19344236 PMID:19455184 PMID:2049575 PMID:21086191 PMID:21984974 PMID:2235526 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24922459 PMID:25205403 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25834947 PMID:25846194 PMID:26017485 PMID:26332594 PMID:27011056 PMID:27964749 PMID:28258187 PMID:28492532 PMID:28742248 PMID:28748566 PMID:29192238 PMID:29650765 PMID:30374176 PMID:30919682 PMID:30999998 PMID:31075413 PMID:31126764 PMID:31141158 PMID:31719132 PMID:33125268 PMID:36103205 PMID:7695699 PMID:8218237 PMID:9050868 PMID:9536098


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