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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
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Accession:DOID:3191 term browser browse the term
Definition:A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. (DO)
Synonyms:exact_synonym: Childhood Onset Nemaline Myopathy;   Late Onset Nemaline Myopathy;   Nemaline Body Disease;   Nemaline Rod Disease;   Rod Body Disease;   Rod Body Myopathy;   Rod Myopathies;   Rod-Body Myopathies;   adult onset nemaline myopathy;   nemaline myopathies;   nemaline rod myopathy;   rod myopathy
 narrow_synonym: nemaline myopathy, autosomal dominant;   nemaline myopathy, autosomal recessive;   nemaline myopathy, dominant;   nemaline myopathy, recessive
 primary_id: MESH:D017696
 xref: GARD:12033;   ICD10CM:G71.21;   OMIM:PS161800;   ORDO:607
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
nemaline myopathy term browser
Symbol Object Name Qualifiers 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 ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:28492532 NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Kbtbd13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Nemaline Myopathy, Dominant ClinVar PMID:25741868 NCBI chr 8:65,909,821...65,911,558 JBrowse link
G Klhl41 kelch-like family member 41 ISO
ISS		 ClinVar Annotator: match by term: Nemaline myopathy ClinVar
MouseDO		 PMID:24268659 PMID:25558065 NCBI chr 3:54,434,291...54,447,415
Ensembl chr 3:54,434,234...54,449,222 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy ClinVar PMID:9536098 PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 More... NCBI chr 3:36,613,677...36,811,618
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, Recessive | ClinVar Annotator: match by term: Nemaline myopathy ClinVar PMID:12207938 PMID:15336686 PMID:16917880 PMID:19805734 PMID:23443021 More... NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Nemaline Myopathy, Dominant ClinVar PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Tpm3 tropomyosin 3 susceptibility ISO DNA:missense mutation
ClinVar Annotator: match by term: Nemaline myopathy		 ClinVar
RGD		 PMID:7704029 RGD:1600404 NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013 		JBrowse link
Klippel-Feil syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism OMIM
ClinVar		 PMID:25741868 PMID:25748484 PMID:26752647 PMID:27858739 PMID:28492532 More... NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695 		JBrowse link
nemaline myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 1 OMIM
ClinVar		 PMID:1221488 PMID:7704029 PMID:9536098 PMID:10587521 PMID:10619715 More... NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013 		JBrowse link
nemaline myopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmod3 leiomodin 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25250574 PMID:25741868 PMID:28492532 More... NCBI chr 4:129,843,964...129,858,684
Ensembl chr 4:129,843,970...129,858,244 		JBrowse link
nemaline myopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mypn myopalladin ISO ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive OMIM
ClinVar		 PMID:18006477 PMID:22286171 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
nemaline myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl5a ADP-ribosylation factor like GTPase 5A ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar 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:28492532 NCBI chr 3:36,906,771...37,169,191
Ensembl chr 3:36,910,427...37,168,944 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Nemaline myopathy 2 OMIM
ClinVar		 PMID:7739042 PMID:9536098 PMID:10051637 PMID:10931867 PMID:11309420 More... NCBI chr 3:36,613,677...36,811,618
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 PMID:7739042 PMID:9536098 PMID:10051637 PMID:10931867 PMID:11309420 More... NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617 		JBrowse link
nemaline myopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, actin, congenital, with cores | ClinVar Annotator: match by term: Nemaline myopathy 3 | ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene OMIM
ClinVar		 PMID:1351946 PMID:4952447 PMID:9401010 PMID:10508519 PMID:15226407 More... NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
nemaline myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Cap myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 4 | ClinVar Annotator: match by term: TPM2-related cap myopathy OMIM
ClinVar		 PMID:11738357 PMID:17846275 PMID:18414213 PMID:18422639 PMID:19047562 More... NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
nemaline myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 5 ClinVar PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Nemaline myopathy 5 ClinVar PMID:16835861 PMID:22246419 PMID:23006543 PMID:24411001 PMID:25741868 More... NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Ppp6r1 protein phosphatase 6, regulatory subunit 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 5 ClinVar PMID:28492532 NCBI chr 1:69,190,856...69,217,598
Ensembl chr 1:69,189,822...69,216,272 		JBrowse link
G Ptprh protein tyrosine phosphatase, receptor type, H ISO ClinVar Annotator: match by term: Nemaline myopathy 5 ClinVar PMID:28492532 NCBI chr 1:69,243,704...69,276,294
Ensembl chr 1:69,242,321...69,285,077 		JBrowse link
G Syt5 synaptotagmin 5 ISO ClinVar Annotator: match by term: Nemaline myopathy 5 ClinVar PMID:28492532 NCBI chr 1:69,277,351...69,285,071
Ensembl chr 1:69,277,351...69,285,067 		JBrowse link
G Tmem86b transmembrane protein 86B ISO ClinVar Annotator: match by term: Nemaline myopathy 5 ClinVar PMID:28492532 NCBI chr 1:69,218,109...69,220,474
Ensembl chr 1:69,218,608...69,220,124 		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 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		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		 ClinVar
OMIM
RGD		 PMID:9536098 PMID:10952871 PMID:12732643 PMID:15665378 PMID:16199547 More... RGD:737736 NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721 		JBrowse link
nemaline myopathy 6 term browser
Symbol Object Name Qualifiers 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 ClinVar Annotator: match by term: Nemaline myopathy 6 OMIM
ClinVar		 PMID:18414213 PMID:21104864 PMID:21109227 PMID:21681106 PMID:24525055 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 8:66,420,673...66,432,568
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 8:65,862,604...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 solute carrier family 51 subunit beta ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr 8:65,931,891...65,934,893
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 8:65,980,955...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
nemaline myopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Nemaline myopathy 7 OMIM
ClinVar		 PMID:17160903 PMID:18414213 PMID:22560515 PMID:25741868 PMID:28492532 NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674 		JBrowse link
nemaline myopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl40 kelch-like family member 40 ISO ClinVar Annotator: match by term: Nemaline myopathy 8 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746549 PMID:24033266 More... NCBI chr 8:121,441,275...121,446,806
Ensembl chr 8:121,441,287...121,446,800 		JBrowse link
nemaline myopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl41 kelch-like family member 41 ISO ClinVar Annotator: match by term: Nemaline myopathy 9 OMIM
ClinVar		 PMID:24268659 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 3:54,434,291...54,447,415
Ensembl chr 3:54,434,234...54,449,222 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital structural myopathy 170
        nemaline myopathy 64
          Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 0
          Intranuclear Rod Myopathy 0
          Klippel-Feil syndrome 4 1
          Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 0
          nemaline myopathy 1 1
          nemaline myopathy 10 1
          nemaline myopathy 11 1
          nemaline myopathy 2 4
          nemaline myopathy 3 1
          nemaline myopathy 4 1
          nemaline myopathy 5 8
          nemaline myopathy 6 42
          nemaline myopathy 7 1
          nemaline myopathy 8 1
          nemaline myopathy 9 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        peripheral nervous system disease 2993
          neuropathy 2780
            neuromuscular disease 2202
              muscular disease 1432
                muscle tissue disease 949
                  myopathy 780
                    congenital structural myopathy 170
                      nemaline myopathy 64
                        Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 0
                        Intranuclear Rod Myopathy 0
                        Klippel-Feil syndrome 4 1
                        Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 0
                        nemaline myopathy 1 1
                        nemaline myopathy 10 1
                        nemaline myopathy 11 1
                        nemaline myopathy 2 4
                        nemaline myopathy 3 1
                        nemaline myopathy 4 1
                        nemaline myopathy 5 8
                        nemaline myopathy 6 42
                        nemaline myopathy 7 1
                        nemaline myopathy 8 1
                        nemaline myopathy 9 1
paths to the root