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nemaline myopathy 2 - Ontology Report - Rat Genome Database

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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;   congenital myopathy 2;   nemaline myopathy 2, autosomal recessive;   nemaline myopathy caused by mutation in the nebulin gene;   nemaline myopathy type 2;   nemaline myopathy, NEB-related
 xref: MESH:C538349;   MIM:256030;   MONDO:0009725;   NCI:C118784;   OMIA:002137

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nemaline myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive ClinVar PMID:1351946 PMID:9401010 PMID:12921789 PMID:19562689 PMID:22095987 More... NCBI chr19:68,781,168...68,784,194
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Arl5a ARF like GTPase 5A ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:25205138 PMID:28492532 NCBI chr 3:36,878,461...36,903,362
Ensembl chr 3:36,880,712...36,903,211 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:25205138 PMID:28492532 NCBI chr 3:57,315,900...57,578,271
Ensembl chr 3:36,910,427...37,168,944 		JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Neb nebulin ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:256030
ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive
ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene		 OMIM
CTD
MouseDO
ClinVar		 PMID:7739042 PMID:9536098 PMID:10051637 PMID:10838258 PMID:10931867 More... NCBI chr 3:57,022,822...57,220,752
Ensembl chr 3:36,613,716...36,811,574 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene ClinVar PMID:7739042 PMID:9536098 PMID:10051637 PMID:10931867 PMID:11309420 More... NCBI chr 3:56,963,840...57,017,106
Ensembl chr 3:36,554,697...36,603,617 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                nemaline myopathy 2 7
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1357
                  myopathy 1049
                    congenital myopathy 252
                      nemaline myopathy 68
                        nemaline myopathy 2 7
paths to the root