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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Stange K, etal., J Mol Biol. 2014 Sep 23;426(19):3221-31. doi: 10.1016/j.jmb.2014.07.029. Epub 2014 Aug 1.
  • 2 additional annotations were made from Stange K, etal., J Mol Biol. 2014 Sep 23;426(19):3221-31. doi: 10.1016/j.jmb.2014.07.029. Epub 2014 Aug 1.
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: DNA:missense mutations:cds:p.T201P,p.L263P (human)

  • This annotation was curated on 2018-04-28 09:00:34.0 by RGD . For more information contact us

    An association has been curated linking GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Schwabe GC, etal., Am J Med Genet A. 2004 Feb 1;124A(4):356-63.
  • 2 additional annotations were made from Schwabe GC, etal., Am J Med Genet A. 2004 Feb 1;124A(4):356-63.
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: DNA:mutation:cds:p.M173V(517A>G)(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 GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Farooq M, etal., Hum Genet. 2013 Nov;132(11):1253-64. doi: 10.1007/s00439-013-1330-3. Epub 2013 Jun 29.
  • 6 additional annotations were made from Farooq M, etal., Hum Genet. 2013 Nov;132(11):1253-64. doi: 10.1007/s00439-013-1330-3. Epub 2013 Jun 29.
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: DNA:missense mutation:cds:c.527T>C(p.L176P)(human)

  • This annotation was curated on 2018-04-28 09:01:16.0 by RGD . For more information contact us

    An association has been curated linking GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8597905 (Homo sapiens)
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: ClinVar Annotator: match by term: Brachydactyly type C
  • Original References(s): PMID:14735582

  • This annotation was curated on 2020-01-07 07:01:57.0 by RGD . For more information contact us

    An association has been curated linking GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11558276 (Homo sapiens)
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: ClinVar Annotator: match by term: Brachydactyly type C

  • This annotation was curated on 2020-01-07 06:59:48.0 by RGD . For more information contact us

    An association has been curated linking GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8597902 (Homo sapiens)
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: ClinVar Annotator: match by term: Brachydactyly type C
  • Original References(s): PMID:9024575, PMID:9288091

  • This annotation was curated on 2020-01-07 07:01:56.0 by RGD . For more information contact us

    An association has been curated linking GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8597910 (Homo sapiens)
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: ClinVar Annotator: match by term: Brachydactyly type C
  • Original References(s): PMID:18283415

  • This annotation was curated on 2020-01-07 07:01:57.0 by RGD . For more information contact us

    An association has been curated linking GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11633117 (Homo sapiens)
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: ClinVar Annotator: match by term: Brachydactyly type C

  • This annotation was curated on 2020-01-07 06:58:22.0 by RGD . For more information contact us

    An association has been curated linking GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560457 (Homo sapiens)
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: ClinVar Annotator: match by term: Brachydactyly type C
  • Original References(s): PMID:12567410

  • This annotation was curated on 2020-01-07 06:56:38.0 by RGD . For more information contact us

    An association has been curated linking GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560455 (Homo sapiens)
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5
  • Curation Notes: ClinVar Annotator: match by term: Brachydactyly type C
  • Original References(s): PMID:12357473, PMID:13953230

  • This annotation was curated on 2020-01-07 06:56:38.0 by RGD . For more information contact us

    An association has been curated linking GDF5 and brachydactyly type C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to brachydactyly type C  (DOID:0110970)
  • 21 papers in RGD have been used to annotate GDF5

  • This annotation was curated on 2020-01-08 19:57:06.0 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.