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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking BICD2 and spinal muscular atrophy with lower extremity predominant 2A in Sus scrofa.        

  • 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 BICD2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to spinal muscular atrophy with lower extremity predominant 2A  (DOID:0070349)
  • 0 papers in RGD have been used to annotate BICD2


    • An association has been curated linking BICD2 and spinal muscular atrophy with lower extremity predominant 2A in Sus scrofa.        

  • 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 BICD2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to spinal muscular atrophy with lower extremity predominant 2A  (DOID:0070349)
  • 0 papers in RGD have been used to annotate BICD2
  • Curation Notes: ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
  • Original References(s): PMID:11241493 PMID:17576681 PMID:21208200 PMID:21494555 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24002164 PMID:24336790 PMID:25326635 PMID:25497877 PMID:25741868 PMID:25802885 PMID:26467025 PMID:26752647 PMID:26998597 PMID:27549087 PMID:27751653 PMID:27784775 PMID:28251916 PMID:28335620 PMID:28492532 PMID:28635954 PMID:28832565 PMID:28883039 PMID:29273277 PMID:29528393 PMID:30373780 PMID:31561939 PMID:31692161 PMID:32056343 PMID:32057122 PMID:32581362 PMID:33060286 PMID:35354563 PMID:7887410 PMID:8114789 PMID:8981948 PMID:9536098 PMID:9713859


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