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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 6
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Accession:DOID:0110935 term browser browse the term
Definition:A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. (DO)
Synonyms:exact_synonym: NEM6;   nemaline myopathy 6, autosomal dominant
 primary_id: MESH:C538398
 alt_id: OMIM:609273


show annotations for term's descendants           Sort by:
nemaline myopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankdd1a ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,017,571...66,043,738
Ensembl chr 8:66,017,773...66,042,651 		JBrowse link
G Aph1b aph-1 homolog B, gamma secretase subunit ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243 		JBrowse link
G Car12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440 		JBrowse link
G Ciao2a cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,670,533...66,682,455
Ensembl chr 8:66,670,483...66,682,455 		JBrowse link
G Cilp cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251 		JBrowse link
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082 		JBrowse link
G Csnk1g1 casein kinase 1, gamma 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,439,760...66,577,247
Ensembl chr 8:66,439,864...66,572,826 		JBrowse link
G Dapk2 death-associated protein kinase 2 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567 		JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,322,920...65,436,331
Ensembl chr 8:65,322,941...65,436,330 		JBrowse link
G Dpp8 dipeptidylpeptidase 8 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,550,620...65,605,828
Ensembl chr 8:65,550,677...65,605,825 		JBrowse link
G Fbxl22 F-box and leucine-rich repeat protein 22 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:67,069,998...67,076,685
Ensembl chr 8:67,069,998...67,076,685 		JBrowse link
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,501,240...65,538,507
Ensembl chr 8:65,501,240...65,538,507 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312 		JBrowse link
G Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,661,165...65,707,961
Ensembl chr 8:65,661,196...65,707,959 		JBrowse link
G Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,621,893...65,657,651
Ensembl chr 8:65,621,897...65,657,648 		JBrowse link
G Ints14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,475,788...65,500,807
Ensembl chr 8:65,475,910...65,500,804 		JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO
ISS		 ClinVar Annotator: match by term: Nemaline myopathy 6
OMIM:609273
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12805120 PMID:18414213 PMID:21104864 PMID:21109227 PMID:21681106 More... NCBI chr 8:65,909,821...65,911,558 JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539 		JBrowse link
G LOC120094549 U5 spliceosomal RNA ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,720,876...65,720,991
Ensembl chr 8:65,720,876...65,720,991 		JBrowse link
G Megf11 multiple EGF-like-domains 11 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Oaz2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,199,694...66,213,513
Ensembl chr 8:66,199,706...66,231,453 		JBrowse link
G Parp16 poly (ADP-ribose) polymerase family, member 16 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,731,152...65,749,438
Ensembl chr 8:65,727,706...65,749,433 		JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,420,606...66,432,994
Ensembl chr 8:66,420,587...66,432,994
Ensembl chr 8:66,420,587...66,432,994 		JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,862,606...65,877,333
Ensembl chr 8:65,862,387...65,877,333 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,110,641...66,120,202
Ensembl chr 8:66,111,072...66,120,200 		JBrowse link
G Plekho2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,079,106...66,105,283
Ensembl chr 8:66,078,448...66,105,266 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428 		JBrowse link
G Rab11a RAB11a, member RAS oncogene family ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525 		JBrowse link
G Rab8b RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384 		JBrowse link
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741 		JBrowse link
G Rbpms2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,153,169...66,184,278
Ensembl chr 8:66,153,593...66,184,268 		JBrowse link
G Rps27l ribosomal protein S27-like ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001 		JBrowse link
G Slc51b SLC51 subunit beta ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145 		JBrowse link
G Snx1 sorting nexin 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,630,086...66,670,418
Ensembl chr 8:66,630,086...66,670,360 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850 		JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536 		JBrowse link
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774 		JBrowse link
G Ubap1l ubiquitin associated protein 1-like ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:65,877,488...65,897,593
Ensembl chr 8:65,884,729...65,897,593 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111 		JBrowse link
G Zfp609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 8:66,214,553...66,349,319
Ensembl chr 8:66,214,555...66,317,977 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                nemaline myopathy 6 42
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    congenital myopathy 239
                      nemaline myopathy 65
                        nemaline myopathy 6 42
paths to the root