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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking MYBPC1 and lethal congenital contracture syndrome 4 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:8604354 (Homo sapiens)
  • 1 RGD objects have been annotated to lethal congenital contracture syndrome 4  (DOID:0060654)
  • 5 papers in RGD have been used to annotate MYBPC1
  • Curation Notes: ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4
  • Original References(s): PMID:22610851


    • An association has been curated linking MYBPC1 and lethal congenital contracture syndrome 4 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to lethal congenital contracture syndrome 4  (DOID:0060654)
  • 5 papers in RGD have been used to annotate MYBPC1


    • An association has been curated linking MYBPC1 and lethal congenital contracture syndrome 4 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:25317054 (Homo sapiens)
  • 1 RGD objects have been annotated to lethal congenital contracture syndrome 4  (DOID:0060654)
  • 5 papers in RGD have been used to annotate MYBPC1
  • Curation Notes: ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4


    • An association has been curated linking MYBPC1 and lethal congenital contracture syndrome 4 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 1 RGD objects have been annotated to lethal congenital contracture syndrome 4  (DOID:0060654)
  • 5 papers in RGD have been used to annotate MYBPC1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking MYBPC1 and lethal congenital contracture syndrome 4 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:10404230 (Homo sapiens)
  • 1 RGD objects have been annotated to lethal congenital contracture syndrome 4  (DOID:0060654)
  • 5 papers in RGD have been used to annotate MYBPC1
  • Curation Notes: ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking MYBPC1 and lethal congenital contracture syndrome 4 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:11550155|RGD:11607438|RGD:150439563|RGD:150466049|RGD:150467555 (Homo sapiens) & RGD:11550155|RGD:11607438|RGD:150439563|RGD:150466049|RGD:150467555 (Homo sapiens) & RGD:11550155|RGD:11607438|RGD:150439563|RGD:150466049|RGD:150467555 (Homo sapiens) & RGD:11550155|RGD:11607438|RGD:150439563|RGD:150466049|RGD:150467555 (Homo sapiens) & RGD:11550155|RGD:11607438|RGD:150439563|RGD:150466049|RGD:150467555 (Homo sapiens)
  • 1 RGD objects have been annotated to lethal congenital contracture syndrome 4  (DOID:0060654)
  • 5 papers in RGD have been used to annotate MYBPC1
  • Curation Notes: ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4
  • Original References(s): PMID:25741868


    • An association has been curated linking MYBPC1 and lethal congenital contracture syndrome 4 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:8660082|RGD:8660084|RGD:8660085|RGD:8660087 (Homo sapiens) & RGD:8660082|RGD:8660084|RGD:8660085|RGD:8660087 (Homo sapiens) & RGD:8660082|RGD:8660084|RGD:8660085|RGD:8660087 (Homo sapiens) & RGD:8660082|RGD:8660084|RGD:8660085|RGD:8660087 (Homo sapiens)
  • 1 RGD objects have been annotated to lethal congenital contracture syndrome 4  (DOID:0060654)
  • 5 papers in RGD have been used to annotate MYBPC1
  • Curation Notes: ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4
  • Original References(s): PMID:18414213 PMID:25741868


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