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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SLC25A19 and Amish Lethal Microcephaly 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 SLC25A19 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Amish Lethal Microcephaly  (DOID:9006375)
  • 0 papers in RGD have been used to annotate SLC25A19


    • An association has been curated linking SLC25A19 and Amish Lethal Microcephaly 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 SLC25A19 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Amish Lethal Microcephaly  (DOID:9006375)
  • 0 papers in RGD have been used to annotate SLC25A19
  • Curation Notes: ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: SLC25A19-related condition | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)
  • Original References(s): PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 PMID:28492532


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