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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:GNE myopathy
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Accession:DOID:0080718 term browser browse the term
Definition:A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. (DO)
Synonyms:exact_synonym: DMRV;   IBM2;   NM;   Nonaka distal myopathy;   Nonaka myopathy;   QSM;   distal myopathy, Nonaka type;   inclusion body myopathy 2;   inclusion body myopathy 2, autosomal recessive;   inclusion body myopathy, autosomal recessive;   inclusion body myopathy, hereditary, autosomal recessive;   inclusion body myopathy, quadriceps sparing;   rimmed vacuole myopathy
 primary_id: MESH:C536816
 alt_id: MESH:C538329;   OMIM:605820
 xref: GARD:9493;   NCI:C176900;   ORDO:602


show annotations for term's descendants           Sort by:
GNE myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:15266205 PMID:17786384 PMID:22022569 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GNE myopathy | ClinVar Annotator: match by term: Inclusion body myopathy 2 | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing		 OMIM
CTD
ClinVar		 PMID:2402797 PMID:2473753 PMID:2808337 PMID:5182749 PMID:9536098 More... NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        Inflammation 2763
          myositis 86
            inclusion body myositis 29
              GNE myopathy 4
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    muscular dystrophy 597
                      distal myopathy 32
                        GNE myopathy 4
paths to the root