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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ALDH18A1 and autosomal recessive cutis laxa type III in Canis lupus familiaris.        

  • 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 ALDH18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal recessive cutis laxa type III  (DOID:0070143)
  • 0 papers in RGD have been used to annotate ALDH18A1
  • Curation Notes: ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome
  • Original References(s): PMID:16199547 PMID:17576681 PMID:21739576 PMID:22411858 PMID:23963297 PMID:24913064 PMID:25077174 PMID:25326637 PMID:25741868 PMID:26026163 PMID:26297557 PMID:26297558 PMID:26320891 PMID:26829900 PMID:28492532 PMID:28567303 PMID:28604674 PMID:29754261 PMID:29915212 PMID:30244529 PMID:31402623 PMID:32017139 PMID:32371413 PMID:36067040 PMID:37119015 PMID:8779323 PMID:9536098


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