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GENE - TERM ANNOTATION REPORT

26 Annotations Found.

An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Le Goff C, etal., Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016.
  • The annotation has been inferred from sequence orthology with SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 additional annotations were made from Le Goff C, etal., Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016.
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by OMIM:139210
  • Original References(s): PMID:22158539


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by OMIM:139210


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:25741868, PMID:25980754, PMID:26467025, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:16436638, PMID:22875147, PMID:25741868, PMID:26467025, PMID:27613157, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:22158539


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by OMIM:139210
  • Original References(s): PMID:25741868


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre
  • Original References(s): PMID:10479724, PMID:10764709, PMID:10775259, PMID:10797267, PMID:11274206, PMID:12821112, PMID:14715079, PMID:15014009, PMID:15031030, PMID:15235019, PMID:16613914, PMID:17873119, PMID:17994767, PMID:20101697, PMID:22331366, PMID:25741868, PMID:26619011, PMID:27595937, PMID:28492532, PMID:8898652, PMID:9679244, PMID:9811934


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:11977156, PMID:22158539, PMID:22243968, PMID:22585601, PMID:25741868


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:10790223, PMID:15288293, PMID:21835029, PMID:24465802, PMID:25695693, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:25741868, PMID:28135145, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:11977156, PMID:15031030, PMID:16613914, PMID:17873119, PMID:22158539, PMID:22243968, PMID:22581936, PMID:22585601, PMID:22683461, PMID:22846733, PMID:24398790, PMID:24424121, PMID:24715504, PMID:25741868, PMID:26420300, PMID:26636501, PMID:27302097, PMID:27562837, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:25741868, PMID:25980754, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:25186627, PMID:25741868, PMID:25980754, PMID:26467025, PMID:27146957, PMID:28492532, PMID:28726808, PMID:28873162


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:25741868, PMID:28492532, PMID:30809044


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:25559809, PMID:25741868, PMID:28492532, PMID:29684080


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:25741868, PMID:27978560, PMID:28135145, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:25741868, PMID:26976419, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:16152648, PMID:17873119, PMID:18355998, PMID:18823382, PMID:20101697, PMID:22316667, PMID:22748914, PMID:23239472, PMID:23399955, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26681312, PMID:27375208, PMID:28492532, PMID:28944238, PMID:9582123


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:11782434, PMID:25741868, PMID:28492532


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:21835029, PMID:22703879, PMID:23399955, PMID:25148578, PMID:25186627, PMID:25318351, PMID:25589618, PMID:25637381, PMID:25741868, PMID:25980754, PMID:26467025, PMID:27153395, PMID:27443514, PMID:28196074, PMID:28492532, PMID:30842500, PMID:32573726


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease
  • Original References(s): PMID:25741868, PMID:30809044


  • An association has been curated linking Smad4 and Growth Mental Deficiency Syndrome of Myhre 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Growth Mental Deficiency Syndrome of Myhre  (DOID:9000838)
  • 89 papers in CRRD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Myhre syndrome
  • Original References(s): PMID:15031030, PMID:16613914, PMID:17873119, PMID:22158539, PMID:22243968, PMID:22581936, PMID:22585601, PMID:22846733, PMID:24033266, PMID:24398790, PMID:24424121, PMID:24580733, PMID:24715504, PMID:24841914, PMID:26420300, PMID:26633542, PMID:27302097, PMID:27562837, PMID:28492532, PMID:28628100, PMID:30968316, PMID:31474762, PMID:31595668, PMID:31654632, PMID:31837202


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