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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking QARS1 and Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy in Pan paniscus.        

  • 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 QARS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 66 RGD objects have been annotated to Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  (DOID:9002795)
  • 0 papers in RGD have been used to annotate QARS1


    • An association has been curated linking QARS1 and Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy in Pan paniscus.        

  • 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 QARS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 66 RGD objects have been annotated to Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  (DOID:9002795)
  • 0 papers in RGD have been used to annotate QARS1
  • Curation Notes: ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
  • Original References(s): PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 PMID:9536098


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