Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Tpm3 and congenital myopathy 4A in Chinchilla lanigera.        

  • 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 TPM3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to congenital myopathy 4A  (DOID:0080102)
  • 2 papers in RGD have been used to annotate Tpm3


  • An association has been curated linking Tpm3 and congenital myopathy 4A in Chinchilla lanigera.        

  • 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 TPM3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to congenital myopathy 4A  (DOID:0080102)
  • 2 papers in RGD have been used to annotate Tpm3
  • Curation Notes: ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
  • Original References(s): PMID:10619715 PMID:12163190 PMID:1221488 PMID:12467750 PMID:17376686 PMID:18300303 PMID:19487656 PMID:19553118 PMID:19953533 PMID:20179953 PMID:20301436 PMID:20554445 PMID:20951040 PMID:21357678 PMID:22749829 PMID:22798622 PMID:23886664 PMID:24033266 PMID:24095155 PMID:24507666 PMID:24642510 PMID:24692096 PMID:25741868 PMID:26307083 PMID:26467025 PMID:27363342 PMID:27854218 PMID:27858751 PMID:28492532 PMID:30768849 PMID:35688744 PMID:35741838 PMID:35796944


  • Go Back to source page   Continue to Ontology report