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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 Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:8755915 PMID:10408773 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16971478 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
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 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        muscular disease 1168
          myositis 79
            inclusion body myositis 25
              GNE myopathy 3
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  atrophic muscular disease 316
                    muscular dystrophy 314
                      distal myopathy 24
                        GNE myopathy 3
paths to the root