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 FKTN and muscular dystrophy-dystroglycanopathy type B4 in Pan paniscus.        

  • 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 FKTN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B4  (DOID:0112379)
  • 0 papers in RGD have been used to annotate FKTN


  • An association has been curated linking FKTN and muscular dystrophy-dystroglycanopathy type B4 in Pan paniscus.        

  • 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 FKTN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B4  (DOID:0112379)
  • 0 papers in RGD have been used to annotate FKTN
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED
  • Original References(s): PMID:10545611 PMID:11165248 PMID:14627679 PMID:17044012 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20620061 PMID:20961758 PMID:21520333 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26350204 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:29590070 PMID:30060766 PMID:30975432 PMID:31983221 PMID:35131284


  • Go Back to source page   Continue to Ontology report