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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 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;   ORDO:602
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: GNE myopathy
ClinVar Annotator: match by term: Nonaka myopathy
ClinVar Annotator: match by term: Inclusion body myopathy 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605820
ClinVar Annotator: match by OMIM:600737
OMIM
ClinVar
CTD
PMID:2473753, PMID:2808337, PMID:10330343, PMID:10356312, PMID:11326336, PMID:11528398, PMID:11916006, PMID:12177386, PMID:12325084, PMID:12409274, PMID:12473753, PMID:12473769, PMID:12473780, PMID:12497639, PMID:12743242, PMID:12811782, PMID:12913203, PMID:14678807, PMID:14707127, PMID:14733963, PMID:14972325, PMID:15136692, PMID:15146476, PMID:15147877, PMID:15330759, PMID:15670773, PMID:15793292, PMID:15834044, PMID:15987957, PMID:16112887, PMID:16372135, PMID:16503389, PMID:16503651, PMID:16810679, PMID:17098358, PMID:17164266, PMID:17261181, PMID:17698786, PMID:17704511, PMID:18383535, PMID:18555875, PMID:19078806, PMID:19596068, PMID:19841673, PMID:19917666, PMID:20030229, PMID:20059379, PMID:20175955, PMID:20300792, PMID:20301439, PMID:20346669, PMID:21131200, PMID:21294420, PMID:21307865, PMID:21436238, PMID:21517694, PMID:21708040, PMID:21873062, PMID:21910480, PMID:22196754, PMID:22231866, PMID:22343627, PMID:22507750, PMID:22883483, PMID:23127962, PMID:23278550, PMID:23437777, PMID:23496965, PMID:23549799, PMID:23558691, PMID:23806237, PMID:24005727, PMID:24027297, PMID:24033266, PMID:24136589, PMID:24474513, PMID:24695763, PMID:24707269, PMID:24737350, PMID:24796702, PMID:25002140, PMID:25046369, PMID:25061177, PMID:25123033, PMID:25182749, PMID:25257349, PMID:25303967, PMID:25422667, PMID:25617006, PMID:25741868, PMID:25966635, PMID:25978849, PMID:25986339, PMID:26161358, PMID:26231298, PMID:26467025, PMID:26627873, PMID:26968811, PMID:26980148, PMID:27363342, PMID:27457812, PMID:27479822, PMID:27535533, PMID:27829678, PMID:27858732, PMID:27919547, PMID:28099567, PMID:28320138, PMID:28403181, PMID:28492532, PMID:28641925, PMID:28717665, PMID:28895049, PMID:29307446, PMID:29406958, PMID:29480215, PMID:30390020, PMID:30990900, PMID:31064749, PMID:31286697 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Nonaka myopathy ClinVar
OMIM
PMID:12374763, PMID:17129171, PMID:23417734, PMID:26208961, PMID:26627873, PMID:28492532 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        muscular disease 1223
          myositis 78
            inclusion body myositis 24
              GNE myopathy 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  atrophic muscular disease 333
                    muscular dystrophy 331
                      distal myopathy 27
                        GNE myopathy 2
paths to the root

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