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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 5
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Accession:DOID:0110936 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in homozygous mutation in the TNNT1 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: ANM;   Amish nemaline myopathy;   NEM5;   nemaline myopathy 5, Amish type;   nemaline myopathy, Amish type;   nemaline myopathy, caused by mutation in the troponin t1 gene
 primary_id: MESH:C538397
 alt_id: OMIM:605355
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Nemaline myopathy 5 ClinVar PMID:16835861 PMID:22246419 PMID:23006543 PMID:24411001 PMID:25741868 PMID:28492532 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Nemaline myopathy 5 ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO DNA:nonsense mutation:exon:p.E180X (human)
ClinVar Annotator: match by term: Nemaline myopathy 5
OMIM
ClinVar
PMID:10952871 PMID:12732643 PMID:15665378 PMID:18414213 PMID:24033266 PMID:24689076 PMID:25430424 PMID:25712079 PMID:25741868 PMID:26296490 PMID:26467025 PMID:27429059 PMID:27790152 PMID:28492532 PMID:29178646, PMID:10952871 RGD:737736 NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital structural myopathy 151
        nemaline myopathy 59
          nemaline myopathy 5 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    congenital structural myopathy 151
                      nemaline myopathy 59
                        nemaline myopathy 5 3
paths to the root