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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Cryab and fatal infantile hypertonic myofibrillar myopathy 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 CRYAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to fatal infantile hypertonic myofibrillar myopathy  (DOID:0080309)
  • 26 papers in CRRD have been used to annotate Cryab


  • An association has been curated linking Cryab and fatal infantile hypertonic myofibrillar myopathy 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 CRYAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to fatal infantile hypertonic myofibrillar myopathy  (DOID:0080309)
  • 26 papers in CRRD have been used to annotate Cryab
  • Curation Notes: ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy


  • An association has been curated linking Cryab and fatal infantile hypertonic myofibrillar myopathy 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 CRYAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to fatal infantile hypertonic myofibrillar myopathy  (DOID:0080309)
  • 26 papers in CRRD have been used to annotate Cryab
  • Curation Notes: ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy
  • Original References(s): PMID:24033266, PMID:25741868, PMID:28492532, PMID:28798025


  • An association has been curated linking Cryab and fatal infantile hypertonic myofibrillar myopathy 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 CRYAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to fatal infantile hypertonic myofibrillar myopathy  (DOID:0080309)
  • 26 papers in CRRD have been used to annotate Cryab
  • Curation Notes: ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy
  • Original References(s): PMID:24033266, PMID:25741868, PMID:28492532


  • An association has been curated linking Cryab and fatal infantile hypertonic myofibrillar myopathy 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 CRYAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to fatal infantile hypertonic myofibrillar myopathy  (DOID:0080309)
  • 26 papers in CRRD have been used to annotate Cryab
  • Curation Notes: ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy
  • Original References(s): PMID:11013455, PMID:24033266, PMID:25741868, PMID:26265630, PMID:28492532


  • An association has been curated linking Cryab and fatal infantile hypertonic myofibrillar myopathy 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 CRYAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to fatal infantile hypertonic myofibrillar myopathy  (DOID:0080309)
  • 26 papers in CRRD have been used to annotate Cryab
  • Curation Notes: ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy
  • Original References(s): PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28690483


  • An association has been curated linking Cryab and fatal infantile hypertonic myofibrillar myopathy 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 CRYAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to fatal infantile hypertonic myofibrillar myopathy  (DOID:0080309)
  • 26 papers in CRRD have been used to annotate Cryab
  • Curation Notes: ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy
  • Original References(s): PMID:24033266, PMID:25741868, PMID:26467025


  • An association has been curated linking Cryab and fatal infantile hypertonic myofibrillar myopathy 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 CRYAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to fatal infantile hypertonic myofibrillar myopathy  (DOID:0080309)
  • 26 papers in CRRD have been used to annotate Cryab
  • Curation Notes: ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy
  • Original References(s): PMID:25741868


  • An association has been curated linking Cryab and fatal infantile hypertonic myofibrillar myopathy 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 CRYAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to fatal infantile hypertonic myofibrillar myopathy  (DOID:0080309)
  • 26 papers in CRRD have been used to annotate Cryab
  • Curation Notes: ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy
  • Original References(s): PMID:1560021, PMID:16483541, PMID:16793013, PMID:17116488, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26694549, PMID:26961874, 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.