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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.


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nemaline myopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankdd1a ankyrin repeat and death domain containing 1A JBrowse link 8 71,034,630 71,057,265 RGD:8554872
G Aph1b aph-1 homolog B, gamma secretase subunit JBrowse link 8 72,508,008 72,598,921 RGD:8554872
G Car12 carbonic anhydrase 12 JBrowse link 8 72,405,770 72,461,425 RGD:8554872
G Ciao2a cytosolic iron-sulfur assembly component 2A JBrowse link 8 71,786,336 71,798,258 RGD:8554872
G Cilp cartilage intermediate layer protein JBrowse link 8 70,760,922 70,775,891 RGD:8554872
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit JBrowse link 8 70,789,137 70,843,133 RGD:8554872
G Csnk1g1 casein kinase 1, gamma 1 JBrowse link 8 71,533,372 71,688,483 RGD:8554872
G Dapk2 death-associated protein kinase 2 JBrowse link 8 71,822,107 71,941,941 RGD:8554872
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Dpp8 dipeptidylpeptidase 8 JBrowse link 8 70,521,782 70,576,180 RGD:8554872
G Fbxl22 F-box and leucine-rich repeat protein 22 JBrowse link 8 72,198,043 72,204,730 RGD:8554872
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 JBrowse link 8 70,471,572 70,509,874 RGD:8554872
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
G Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 JBrowse link 8 70,630,546 70,685,882 RGD:8554872
G Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 JBrowse link 8 70,591,561 70,627,329 RGD:8554872
G Ints14 integrator complex subunit 14 JBrowse link 8 70,446,157 70,471,140 RGD:8554872
G Kbtbd13 kelch repeat and BTB domain containing 13 JBrowse link 8 70,907,934 70,909,671 RGD:7240710
RGD:8554872
G Lactb lactamase, beta JBrowse link 8 72,750,174 72,766,307 RGD:8554872
G Megf11 multiple EGF-like-domains 11 JBrowse link 8 69,859,256 70,191,070 RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Oaz2 ornithine decarboxylase antizyme 2 JBrowse link 8 71,216,011 71,229,788 RGD:8554872
G Parp16 poly (ADP-ribose) polymerase family, member 16 JBrowse link 8 70,712,393 70,731,212 RGD:8554872
G Pclaf PCNA clamp associated factor JBrowse link 8 71,514,281 71,526,182 RGD:8554872
G Pdcd7 programmed cell death 7 JBrowse link 8 70,860,671 70,875,471 RGD:8554872
G Pif1 PIF1 5'-to-3' DNA helicase JBrowse link 8 71,124,477 71,133,460 RGD:8554872
G Plekho2 pleckstrin homology domain containing O2 JBrowse link 8 71,092,766 71,118,966 RGD:8554872
G Ppib peptidylprolyl isomerase B JBrowse link 8 71,719,681 71,725,538 RGD:8554872
G Rab11a RAB11a, member RAS oncogene family JBrowse link 8 70,192,975 70,215,719 RGD:8554872
G Rab8b RAB8B, member RAS oncogene family JBrowse link 8 72,641,680 72,714,646 RGD:8554872
G Rasl12 RAS-like, family 12 JBrowse link 8 70,915,944 70,931,275 RGD:8554872
G Rbpms2 RNA binding protein, mRNA processing factor 2 JBrowse link 8 71,165,375 71,200,299 RGD:8554872
G Rps27l ribosomal protein S27-like JBrowse link 8 72,741,155 72,746,090 RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
G Slc51b solute carrier family 51, beta subunit JBrowse link 8 70,930,196 70,938,559 RGD:8554872
G Snx1 sorting nexin 1 JBrowse link 8 71,745,687 71,786,182 RGD:8554872
G Snx22 sorting nexin 22 JBrowse link 8 71,725,405 71,728,729 RGD:8554872
G Spg21 SPG21, maspardin JBrowse link 8 70,994,531 71,022,302 RGD:8554872
G Trip4 thyroid hormone receptor interactor 4 JBrowse link 8 71,369,121 71,533,281 RGD:8554872
G Ubap1l ubiquitin associated protein 1-like JBrowse link 8 70,876,516 70,895,723 RGD:8554872
G Usp3 ubiquitin specific peptidase 3 JBrowse link 8 72,207,970 72,284,871 RGD:8554872
G Zfp609 zinc finger protein 609 JBrowse link 8 71,230,830 71,337,746 RGD:8554872

Term paths to the root
Path 1
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          nemaline myopathy 6 41
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                muscle tissue disease 631
                  myopathy 521
                    congenital structural myopathy 134
                      nemaline myopathy 57
                        nemaline myopathy 6 41
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