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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Lipa and lysosomal acid lipase deficiency in Chinchilla lanigera.        

  • 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 LIPA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to lysosomal acid lipase deficiency  (DOID:0080217)
  • 2 papers in RGD have been used to annotate Lipa
  • Curation Notes: ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency
  • Original References(s): PMID:10562460 PMID:10627498 PMID:10746035 PMID:11441129 PMID:16199547 PMID:16255772 PMID:17576681 PMID:18775687 PMID:2129132 PMID:21291321 PMID:21757691 PMID:21963785 PMID:22138108 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23430518 PMID:23485521 PMID:23583223 PMID:24033266 PMID:24048164 PMID:24072694 PMID:24792990 PMID:24832708 PMID:24993530 PMID:25525159 PMID:25620107 PMID:25624737 PMID:25722898 PMID:25741868 PMID:25741916 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:26913919 PMID:27423329 PMID:27624512 PMID:28179030 PMID:28220406 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:29958253 PMID:30270055 PMID:30684275 PMID:31113597 PMID:31131398 PMID:31180157 PMID:3118057 PMID:31182375 PMID:31230978 PMID:31392116 PMID:32041611 PMID:32382506 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 PMID:7833918 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8864960 PMID:8894696 PMID:9367797 PMID:9536098 PMID:9554751 PMID:9633819 PMID:9684740 PMID:9925650


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