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GENE - TERM ANNOTATION REPORT

30 Annotations Found.

An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Levy GG, etal., Nature. 2001 Oct 4;413(6855):488-94.
  • The annotation has been inferred from sequence orthology with ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Levy GG, etal., Nature. 2001 Oct 4;413(6855):488-94.
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: DNA:mutations:multiple (human)

  • This annotation was curated on 2018-04-28 09:00:29.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
  •  
  • The annotation was made from Motto DG, etal., J Clin Invest. 2005 Oct;115(10):2752-61.
  • 2 additional annotations were made from Motto DG, etal., J Clin Invest. 2005 Oct;115(10):2752-61.
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13

  • This annotation was curated on 2018-04-28 09:00:31.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Camilleri RS, etal., J Thromb Haemost. 2008 Feb;6(2):331-8. Epub 2007 Nov 20.
  • The annotation has been inferred from sequence orthology with ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Camilleri RS, etal., J Thromb Haemost. 2008 Feb;6(2):331-8. Epub 2007 Nov 20.
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human)

  • This annotation was curated on 2018-04-28 09:00:32.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Furlan M, etal., Blood. 1997 May 1;89(9):3097-103.
  • The annotation has been inferred from sequence orthology with ADAMTS13 (Homo sapiens) [(IEP) inferred from expression pattern]
  • 2 additional annotations were made from Furlan M, etal., Blood. 1997 May 1;89(9):3097-103.
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: protein:decreased activity:plasma (human)

  • This annotation was curated on 2018-04-28 09:00:35.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by OMIM:274150
  • Original References(s): PMID:14563640, PMID:6433703, PMID:7094941

  • This annotation was curated on 2020-03-26 10:16:19.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:21781265, PMID:23346910, PMID:25741868

  • This annotation was curated on 2020-03-26 10:18:10.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13

  • This annotation was curated on 2020-03-25 19:57:06.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by OMIM:274150
  • Original References(s): PMID:11563771, PMID:12576319

  • This annotation was curated on 2020-03-26 10:16:19.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by OMIM:274150
  • Original References(s): PMID:11586351

  • This annotation was curated on 2020-03-26 10:16:19.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by OMIM:274150
  • Original References(s): PMID:12181489

  • This annotation was curated on 2020-03-26 10:16:19.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by OMIM:274150
  • Original References(s): PMID:15521921

  • This annotation was curated on 2020-03-26 10:17:51.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by OMIM:274150
  • Original References(s): PMID:12393505, PMID:15521921

  • This annotation was curated on 2020-03-26 10:16:19.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by OMIM:274150
  • Original References(s): PMID:11586351, PMID:14512317

  • This annotation was curated on 2020-03-26 10:16:18.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by OMIM:274150
  • Original References(s): PMID:15126318

  • This annotation was curated on 2020-03-26 10:16:19.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(EXP) inferred from experiment]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:12656756

  • This annotation was curated on 2020-03-26 10:30:35.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura
  • Original References(s): PMID:15009458, PMID:25741868, PMID:31064749

  • This annotation was curated on 2020-03-26 10:16:18.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-03-26 10:19:09.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by OMIM:274150

  • This annotation was curated on 2020-03-26 10:19:36.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:12181489, PMID:18581589, PMID:18665921, PMID:21676167, PMID:22768050, PMID:23621748, PMID:23715102, PMID:25741868

  • This annotation was curated on 2020-03-26 10:16:19.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:14563640, PMID:19055667

  • This annotation was curated on 2020-03-26 10:16:23.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:12753286, PMID:17187257, PMID:17627784, PMID:28492532

  • This annotation was curated on 2020-03-26 10:18:52.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-03-26 10:19:15.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-03-26 10:19:28.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:24033266

  • This annotation was curated on 2020-03-26 10:17:37.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:19047683, PMID:20647566, PMID:23648131, PMID:25442981, PMID:25934476, PMID:26081109, PMID:27802307

  • This annotation was curated on 2020-03-26 10:14:51.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:27132698, PMID:27802307

  • This annotation was curated on 2020-03-26 10:13:34.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:15126318, PMID:18481107

  • This annotation was curated on 2020-03-26 10:14:29.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:14563640, PMID:21676167

  • This annotation was curated on 2020-03-26 10:16:18.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:14597993, PMID:15800115, PMID:16453338

  • This annotation was curated on 2020-03-26 10:16:18.0 by RGD . For more information contact us

    An association has been curated linking Adamts13 and thrombotic thrombocytopenic purpura in Mus musculus.        

  • 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 ADAMTS13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to thrombotic thrombocytopenic purpura  (DOID:10772)
  • 23 papers in RGD have been used to annotate Adamts13
  • Curation Notes: ClinVar Annotator: match by term: Upshaw-Schulman syndrome
  • Original References(s): PMID:16796708, PMID:16807643, PMID:17003922, PMID:18031293, PMID:22529288

  • This annotation was curated on 2020-03-26 10:16:18.0 by RGD . For more information contact us

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