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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:nemaline myopathy 2
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Accession:DOID:0110928 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)
Synonyms:exact_synonym: NEM2;   nemaline myopathy 2, autosomal recessive;   nemaline myopathy caused by mutation in the nebulin gene;   nemaline myopathy, NEB-related
 primary_id: MESH:C538349
 alt_id: OMIA:002137;   OMIM:256030
 xref: NCI:C118784
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
nemaline myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl5a ADP-ribosylation factor like GTPase 5A ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:28492532 NCBI chr 3:37,922,544...37,947,434
Ensembl chr 3:37,924,793...37,947,283
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:28492532 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Nemaline myopathy 2
ClinVar Annotator: match by OMIM:256030
ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive
OMIM
ClinVar
PMID:2838409, PMID:7739042, PMID:10051637, PMID:10931867, PMID:11309420, PMID:11851340, PMID:11994971, PMID:12207937, PMID:12207938, PMID:15221447, PMID:15266303, PMID:15336686, PMID:16917880, PMID:17525139, PMID:18330676, PMID:18414213, PMID:19232495, PMID:19346529, PMID:19763152, PMID:19805734, PMID:19944167, PMID:20307669, PMID:21148390, PMID:21350120, PMID:21520333, PMID:21724397, PMID:22183965, PMID:22367672, PMID:22406018, PMID:22941678, PMID:23443021, PMID:23555315, PMID:23572184, PMID:23715096, PMID:23726790, PMID:23826317, PMID:24033266, PMID:24046450, PMID:24056153, PMID:24725366, PMID:24753607, PMID:24972929, PMID:25079567, PMID:25110572, PMID:25203624, PMID:25205138, PMID:25205148, PMID:25214167, PMID:25296583, PMID:25356970, PMID:25473036, PMID:25525159, PMID:25589042, PMID:25589043, PMID:25741868, PMID:25741869, PMID:26019235, PMID:26036949, PMID:26197980, PMID:26403434, PMID:26467025, PMID:26573135, PMID:26578207, PMID:26809612, PMID:26809617, PMID:26841830, PMID:27066551, PMID:27105866, PMID:27168972, PMID:27357428, PMID:27739254, PMID:27854218, PMID:27884173, PMID:27933661, PMID:28131200, PMID:28132693, PMID:28336317, PMID:28391287, PMID:28403181, PMID:28492532, PMID:28600779, PMID:29070751, PMID:29382405, PMID:29392406, PMID:29669168, PMID:29689380, PMID:29754767, PMID:30057997, PMID:30311386, PMID:30369353, PMID:30467404, PMID:30679003 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:2838409, PMID:7739042, PMID:10051637, PMID:10931867, PMID:11309420, PMID:11851340, PMID:11994971, PMID:12207937, PMID:12207938, PMID:15221447, PMID:15266303, PMID:15336686, PMID:16917880, PMID:17525139, PMID:18414213, PMID:19805734, PMID:21148390, PMID:21520333, PMID:21724397, PMID:23443021, PMID:24033266, PMID:24046450, PMID:24056153, PMID:24725366, PMID:24972929, PMID:25110572, PMID:25205138, PMID:25356970, PMID:25525159, PMID:25741868, PMID:26019235, PMID:26197980, PMID:26403434, PMID:26467025, PMID:26809612, PMID:26809617, PMID:26841830, PMID:27066551, PMID:27105866, PMID:27357428, PMID:27884173, PMID:27933661, PMID:28132693, PMID:28492532, PMID:29382405, PMID:29669168, PMID:29689380, PMID:29754767, PMID:30057997, PMID:30311386, PMID:30467404 NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      congenital structural myopathy 139
        nemaline myopathy 58
          nemaline myopathy 2 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    congenital structural myopathy 139
                      nemaline myopathy 58
                        nemaline myopathy 2 4
paths to the root

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