Send us a Message



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

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
go back to main search page
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 with rimmed vacuoles;   distal myopathy, Nonaka type;   distal myopathy, with or without rimmed vacuoles;   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;   OMIM:617158
 xref: GARD:9493;   NCI:C176900;   ORDO:602
For additional species annotation, visit the Alliance of Genome Resources.



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 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:9536098 PMID:10330343 More... NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:12083760 PMID:25741868 PMID:28492532 PMID:28708303 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Myopathy, distal, with rimmed vacuoles OMIM
ClinVar
PMID:12374763 PMID:17129171 PMID:23417734 PMID:25741868 PMID:26208961 More... NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    Pathological Conditions, Signs and Symptoms 11299
      Pathologic Processes 7754
        Inflammation 2801
          myositis 82
            inclusion body myositis 26
              GNE myopathy 3
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        peripheral nervous system disease 3016
          neuropathy 2803
            neuromuscular disease 2222
              muscular disease 1452
                muscle tissue disease 950
                  myopathy 779
                    muscular dystrophy 420
                      distal myopathy 27
                        GNE myopathy 3
paths to the root