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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Abca3 and Pulmonary Surfactant Metabolism Dysfunction 3 in Rattus norvegicus.        

  • 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 ABCA3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Pulmonary Surfactant Metabolism Dysfunction 3  (DOID:9000122)
  • 11 papers in RGD have been used to annotate Abca3


  • An association has been curated linking Abca3 and Pulmonary Surfactant Metabolism Dysfunction 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ABCA3 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Pulmonary Surfactant Metabolism Dysfunction 3  (DOID:9000122)
  • 11 papers in RGD have been used to annotate Abca3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Abca3 and Pulmonary Surfactant Metabolism Dysfunction 3 in Rattus norvegicus.        

  • 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 ABCA3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Pulmonary Surfactant Metabolism Dysfunction 3  (DOID:9000122)
  • 11 papers in RGD have been used to annotate Abca3
  • Curation Notes: ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency | ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
  • Original References(s): PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 PMID:17429902 PMID:17517255 PMID:17597647 PMID:17618459 PMID:17719949 PMID:18024538 PMID:18246475 PMID:18317237 PMID:18492541 PMID:18603241 PMID:18676873 PMID:19220077 PMID:19647838 PMID:20371530 PMID:20656946 PMID:21214890 PMID:22068586 PMID:22145626 PMID:22304854 PMID:22337229 PMID:22434821 PMID:22435821 PMID:22455634 PMID:22800827 PMID:22866751 PMID:22995991 PMID:23166334 PMID:23443156 PMID:23625987 PMID:24033266 PMID:24047351 PMID:24115460 PMID:24136335 PMID:24142515 PMID:24657120 PMID:24871971 PMID:25073622 PMID:25105258 PMID:25113300 PMID:25406294 PMID:25553246 PMID:25692779 PMID:25712598 PMID:25741868 PMID:26375475 PMID:26467025 PMID:26517903 PMID:26547207 PMID:26928390 PMID:27374344 PMID:27516224 PMID:27670912 PMID:28034695 PMID:28492532 PMID:28642621 PMID:28808495 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31210424 PMID:31589614 PMID:31980526 PMID:32196812 PMID:32238781 PMID:32392962 PMID:32692933 PMID:32782805 PMID:33110422 PMID:33240318 PMID:33359301 PMID:33526094 PMID:33526882 PMID:33708521 PMID:34132118 PMID:34638622 PMID:34715861 PMID:35170262 PMID:35626240 PMID:36376106 PMID:36404394 PMID:36808083 PMID:7374344


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