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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Nalcn and CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  (DOID:9005675)
  • 8 papers in RGD have been used to annotate Nalcn
  • Curation Notes: ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
  • Original References(s): PMID:25683120


    • An association has been curated linking Nalcn and CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  (DOID:9005675)
  • 8 papers in RGD have been used to annotate Nalcn


    • An association has been curated linking Nalcn and CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  (DOID:9005675)
  • 8 papers in RGD have been used to annotate Nalcn
  • Curation Notes: ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
  • Original References(s): PMID:25741868 PMID:26938784


    • An association has been curated linking Nalcn and CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  (DOID:9005675)
  • 8 papers in RGD have been used to annotate Nalcn
  • Curation Notes: ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay


    • An association has been curated linking Nalcn and CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  (DOID:9005675)
  • 8 papers in RGD have been used to annotate Nalcn
  • Curation Notes: ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
  • Original References(s): PMID:25741868


    • An association has been curated linking Nalcn and CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  (DOID:9005675)
  • 8 papers in RGD have been used to annotate Nalcn
  • Curation Notes: ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
  • Original References(s): PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:28454995


    • An association has been curated linking Nalcn and CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  (DOID:9005675)
  • 8 papers in RGD have been used to annotate Nalcn
  • Curation Notes: ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
  • Original References(s): PMID:27681385


    • An association has been curated linking Nalcn and CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  (DOID:9005675)
  • 8 papers in RGD have been used to annotate Nalcn
  • Curation Notes: ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
  • Original References(s): PMID:25741868 PMID:30167850


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