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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Gch1 and Segawa Syndrome, Autosomal Recessive 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 GCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 44 RGD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 0 papers in RGD have been used to annotate Gch1
  • Curation Notes: ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
  • Original References(s): PMID:10987649 PMID:12112113 PMID:12391354 PMID:12552057 PMID:1449240 PMID:15303002 PMID:15753436 PMID:16917893 PMID:17044972 PMID:17898029 PMID:18044725 PMID:19234759 PMID:19332422 PMID:21412842 PMID:23430498 PMID:23942198 PMID:24993959 PMID:25497597 PMID:25741868 PMID:26467025 PMID:27313105 PMID:28492532 PMID:29471552 PMID:30314816 PMID:30894892 PMID:34426522 PMID:35083481 PMID:8298648 PMID:8852666 PMID:9667588 PMID:9886460


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