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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cacna1c and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures in Heterocephalus glaber.        

  • 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 CACNA1C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  (DOID:0070536)
  • 0 papers in RGD have been used to annotate Cacna1c


    • An association has been curated linking Cacna1c and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures in Heterocephalus glaber.        

  • 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 CACNA1C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  (DOID:0070536)
  • 0 papers in RGD have been used to annotate Cacna1c
  • Curation Notes: ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Original References(s): PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 PMID:19074970 PMID:20817017 PMID:21307850 PMID:21878566 PMID:21910241 PMID:22581653 PMID:22840528 PMID:23313911 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23678275 PMID:23690510 PMID:23861362 PMID:25260352 PMID:25633834 PMID:25741868 PMID:26227324 PMID:26822303 PMID:27593853 PMID:27662471 PMID:27868338 PMID:28211989 PMID:28371864 PMID:28492532 PMID:28750076 PMID:30513141 PMID:30847666 PMID:32233023 PMID:34163037 PMID:34999275 PMID:37901857


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