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GENE - TERM ANNOTATION REPORT

34 Annotations Found.

An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:23040494, PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:24801232, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18414213, PMID:25741868


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25741868


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:12840783, PMID:15689448, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:19309692, PMID:20576434, PMID:20976770, PMID:21280092, PMID:24033266, PMID:24314752, PMID:25535305, PMID:25741868, PMID:26467025, PMID:27447704, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:19949035, PMID:25533456, PMID:28492532, PMID:29419890


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:23757202, PMID:24033266, PMID:25741868


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:23040494, PMID:27854218, PMID:28492532, PMID:30564623


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:28492532, PMID:30564623


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:19884007, PMID:28492532, PMID:29419890, PMID:30564623


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:20301676, PMID:24038877


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18414213, PMID:25741868, PMID:26467025


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18414213, PMID:22992134, PMID:25741868, PMID:26467025


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:16130093, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:25741868, PMID:26467025, PMID:27782108, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:19884007, PMID:20729548, PMID:24033266, PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:17886299, PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18378883, PMID:24038877, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18825676, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:20976770, PMID:28492532, PMID:28660205


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:16935502, PMID:19564581, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25635128


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:23757202, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:23040494, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:26752647, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:17886299, PMID:28492532


  • An association has been curated linking Col6a2 and dystonia 27 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 13 papers in CRRD have been used to annotate Col6a2
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:27456059, PMID:28492532


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.