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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;   RDO:0004375
For additional species annotation, visit the Alliance of Genome Resources.


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 8:71,034,630...71,057,265
Ensembl chr 8:71,035,309...71,055,969
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 8:72,508,008...72,598,921
Ensembl chr 8:72,476,425...72,629,265
JBrowse link
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:72,405,770...72,461,425
Ensembl chr 8:72,405,748...72,460,240
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 8:71,786,336...71,798,258
Ensembl chr 8:71,786,310...71,798,266
JBrowse link
G Cilp cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:70,760,922...70,775,891
Ensembl chr 8:70,760,922...70,775,891
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 8:70,789,137...70,843,133
Ensembl chr 8:70,789,256...70,843,123
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 8:71,533,372...71,688,483
Ensembl chr 8:71,547,468...71,679,666
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 8:71,822,107...71,941,941
Ensembl chr 8:71,822,129...71,941,910
JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Dpp8 dipeptidylpeptidase 8 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:70,521,782...70,576,180
Ensembl chr 8:70,522,092...70,573,424
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 8:72,198,043...72,204,730
Ensembl chr 8:72,198,043...72,204,730
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 8:70,471,572...70,509,874
Ensembl chr 8:70,471,572...70,509,874
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 8:72,029,550...72,198,363
Ensembl chr 8:72,029,489...72,198,358
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 8:70,630,546...70,685,882
Ensembl chr 8:70,630,767...70,684,115
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 8:70,591,561...70,627,329
Ensembl chr 8:70,603,249...70,624,925
JBrowse link
G Ints14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:70,446,157...70,471,140
Ensembl chr 8:70,447,040...70,471,137
JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Nemaline myopathy 6
ClinVar Annotator: match by OMIM:609273
OMIM
ClinVar
PMID:12805120, PMID:18414213, PMID:21104864, PMID:21109227, PMID:21681106, PMID:24525055, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29382405, PMID:30208948 NCBI chr 8:70,907,934...70,909,671 JBrowse link
G Lactb lactamase, beta ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:72,750,174...72,766,307
Ensembl chr 8:72,750,171...72,766,389
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 8:69,859,256...70,191,070
Ensembl chr 8:69,971,778...70,184,742
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Oaz2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:71,216,011...71,229,788
Ensembl chr 8:71,216,178...71,228,713
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 8:70,712,393...70,731,212
Ensembl chr 8:70,708,873...70,729,985
JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:71,514,281...71,526,182
Ensembl chr 8:71,514,281...71,526,182
JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:70,860,671...70,875,471
Ensembl chr 8:70,860,671...70,875,471
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 8:71,124,477...71,133,460
Ensembl chr 8:71,125,414...71,132,629
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 8:71,092,766...71,118,966
Ensembl chr 8:71,094,090...71,118,927
JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:71,719,681...71,725,538
Ensembl chr 8:71,719,563...71,725,562
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 8:70,192,975...70,215,719
Ensembl chr 8:70,192,975...70,215,719
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 8:72,641,680...72,714,646
Ensembl chr 8:72,638,003...72,714,664
JBrowse link
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:70,915,944...70,931,275
Ensembl chr 8:70,915,953...70,930,179
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 8:71,165,375...71,200,299
Ensembl chr 8:71,167,305...71,200,536
JBrowse link
G Rps27l ribosomal protein S27-like ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:72,741,155...72,746,090
Ensembl chr 8:72,741,155...72,746,090
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 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
G Slc51b solute carrier family 51 subunit beta ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:70,930,196...70,938,559
Ensembl chr 8:70,930,347...70,932,986
JBrowse link
G Snx1 sorting nexin 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:71,745,687...71,786,182
Ensembl chr 8:71,745,896...71,784,551
JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:71,725,405...71,728,729
Ensembl chr 8:71,725,771...71,728,685
JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:70,994,531...71,022,302
Ensembl chr 8:70,994,563...71,022,331
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 8:71,369,121...71,533,281
Ensembl chr 8:71,371,370...71,533,459
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 8:70,876,516...70,895,723
Ensembl chr 8:70,884,491...70,896,501
JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:72,207,970...72,284,871
Ensembl chr 8:72,207,972...72,284,873
JBrowse link
G Zfp609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106, PMID:24525055 NCBI chr 8:71,230,830...71,337,746
Ensembl chr 8:71,230,830...71,337,746
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      congenital structural myopathy 140
        nemaline myopathy 58
          nemaline myopathy 6 41
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    congenital structural myopathy 140
                      nemaline myopathy 58
                        nemaline myopathy 6 41
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.