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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking BLTP1 and Arthrogryposis multiplex congenita in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:15040461 (Homo sapiens)
  • 173 RGD objects have been annotated to Arthrogryposis multiplex congenita  (HP:0002804)
  • 3 papers in RGD have been used to annotate BLTP1
  • Curation Notes: ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
  • Original References(s): PMID:25741868 PMID:31680123


    • An association has been curated linking BLTP1 and Arthrogryposis multiplex congenita in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:15040460 (Homo sapiens)
  • 173 RGD objects have been annotated to Arthrogryposis multiplex congenita  (HP:0002804)
  • 3 papers in RGD have been used to annotate BLTP1
  • Curation Notes: ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
  • Original References(s): PMID:25741868 PMID:31680123


    • An association has been curated linking BLTP1 and Arthrogryposis multiplex congenita in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 173 RGD objects have been annotated to Arthrogryposis multiplex congenita  (HP:0002804)
  • 3 papers in RGD have been used to annotate BLTP1
  • Original References(s): MIM:617822


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