Send us a Message



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

GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pomgnt1 and autosomal recessive limb-girdle muscular dystrophy type 2O 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 POMGNT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 16 papers in RGD have been used to annotate Pomgnt1


  • An association has been curated linking Pomgnt1 and autosomal recessive limb-girdle muscular dystrophy type 2O 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 POMGNT1 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 16 papers in RGD have been used to annotate Pomgnt1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Pomgnt1 and autosomal recessive limb-girdle muscular dystrophy type 2O 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 POMGNT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 16 papers in RGD have been used to annotate Pomgnt1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
  • Original References(s): PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22419172 PMID:22522420 PMID:22554691 PMID:22819665 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25987458 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29096039 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:31069529 PMID:31872526 PMID:32115343 PMID:32404165 PMID:33077954 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 PMID:36819107 PMID:9536098


  • Go Back to source page   Continue to Ontology report