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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking B3gat3 and Larsen-like syndrome B3GAT3 type 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 B3GAT3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to Larsen-like syndrome B3GAT3 type  (DOID:0080575)
  • 7 papers in RGD have been used to annotate B3gat3


    • An association has been curated linking B3gat3 and Larsen-like syndrome B3GAT3 type 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 B3GAT3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to Larsen-like syndrome B3GAT3 type  (DOID:0080575)
  • 7 papers in RGD have been used to annotate B3gat3
  • Curation Notes: ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
  • Original References(s): PMID:16199547 PMID:17576681 PMID:20335603 PMID:21763480 PMID:24668659 PMID:25326635 PMID:25741868 PMID:25893793 PMID:26633542 PMID:26754439 PMID:27271787 PMID:27871226 PMID:28229453 PMID:28492532 PMID:31196143 PMID:31438591 PMID:31988067 PMID:35000503 PMID:9536098


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