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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking Pomt1 and Walker-Warburg syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Beltran-Valero de Bernabe D, etal., Am J Hum Genet 2002 Nov;71(5):1033-43.
  • The annotation has been inferred from sequence orthology with POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Beltran-Valero de Bernabe D, etal., Am J Hum Genet 2002 Nov;71(5):1033-43.
  • 70 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome 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 POMT1 (Homo sapiens) [(EXP) inferred from experiment]
  • 70 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from van Reeuwijk J, etal., Hum Mutat. 2006 May;27(5):453-9.
  • The annotation has been inferred from sequence orthology with POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from van Reeuwijk J, etal., Hum Mutat. 2006 May;27(5):453-9.
  • 70 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Currier SC, etal., Am J Med Genet A. 2005 Feb 15;133A(1):53-7.
  • The annotation has been inferred from sequence orthology with POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Currier SC, etal., Am J Med Genet A. 2005 Feb 15;133A(1):53-7.
  • 70 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 70 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
  • Original References(s): PMID:11320179 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16575835 PMID:17559086 PMID:17878207 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32860008


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 70 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
  • Original References(s): PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:22323514 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31311558 PMID:32860008


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 70 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
  • Original References(s): PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:20816175 PMID:22323514 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:28097321 PMID:28116189 PMID:28492532 PMID:28815891 PMID:29101272 PMID:30426380 PMID:31311558 PMID:31680349 PMID:32860008 PMID:34930662 PMID:35606784 PMID:9536098


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 70 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
  • Original References(s): PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:20816175 PMID:22323514 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26467025 PMID:28097321 PMID:28492532 PMID:30426380 PMID:31311558 PMID:32860008


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 70 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
  • Original References(s): PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:20816175 PMID:22323514 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26467025 PMID:27066551 PMID:28097321 PMID:28116189 PMID:28492532 PMID:30426380 PMID:31311558 PMID:32860008 PMID:35606784


    • An association has been curated linking Pomt1 and Walker-Warburg syndrome 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 70 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 14 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
  • Original References(s): PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:20816175 PMID:22323514 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:28097321 PMID:28116189 PMID:28492532 PMID:28815891 PMID:29101272 PMID:30426380 PMID:31311558 PMID:31680349 PMID:32860008 PMID:34930662 PMID:35606784


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