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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 group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Synonyms:exact_synonym: Autosomal Dominant Nemaline Myopathy;   Autosomal Recessive Nemaline Myopathy;   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, DOMINANT;   NEMALINE MYOPATHY, RECESSIVE
 primary_id: MESH:D017696
 alt_id: RDO:0004316
 xref: GARD:12033;   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 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar NCBI chr 6:75,759,140...75,763,185
Ensembl chr 6:75,759,140...75,763,185
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 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
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 8:70,907,934...70,909,671 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 3:55,910,177...55,923,303
Ensembl chr 3:55,910,177...55,923,303
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive
ClinVar Annotator: match by term: Nemaline myopathy
ClinVar PMID:2838409, PMID:10051637, PMID:12207937, PMID:12207938, PMID:15221447, PMID:15266303, PMID:15336686, PMID:16917880, PMID:17525139, PMID:18330676, PMID:19232495, PMID:19805734, PMID:21724397, PMID:21798101, PMID:23443021, PMID:23572184, PMID:24056153, PMID:25079567, PMID:25110572, PMID:25205138, PMID:25205148, PMID:25356970, PMID:25525159, PMID:25741868, PMID:26019235, PMID:26036949, PMID:26197980, PMID:26403434, PMID:26467025, PMID:26809612, PMID:26809617, PMID:26841830, PMID:27105866, PMID:27933661, PMID:28492532, PMID:30057997, PMID:30467404 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
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, PMID:24056153, PMID:25205138, PMID:25356970, PMID:25525159, PMID:25741868, PMID:26019235, PMID:26403434, PMID:26467025, PMID:26809612, PMID:26809617, PMID:26841830, PMID:27105866, PMID:28492532, PMID:30057997, PMID:30467404 NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
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 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
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 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
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 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Tpm3 tropomyosin 3 susceptibility ISO DNA:missense mutation
ClinVar Annotator: match by term: Nemaline myopathy
ClinVar PMID:7704029 RGD:1600404 NCBI chr 2:189,423,534...189,451,340
Ensembl chr 2:189,423,559...189,451,029
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 nemaline myopathy and facial dysmorphism ClinVar
OMIM
PMID:25741868, PMID:25748484, PMID:26752647, PMID:27858739, PMID:28492532 NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
JBrowse link
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 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 excess of thin myofilaments ClinVar PMID:9185179, PMID:10508519 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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
ClinVar Annotator: match by OMIM:609284
OMIM
ClinVar
PMID:1221488, PMID:7704029, PMID:10587521, PMID:10619715, PMID:11106625, PMID:11964245, PMID:12163017, PMID:12163190, PMID:12196661, PMID:12467750, PMID:12601110, PMID:15562513, PMID:17376686, PMID:18300303, PMID:18382475, PMID:18716557, PMID:19487656, PMID:19553118, PMID:19953533, PMID:20012312, PMID:20179953, PMID:20554445, PMID:20951040, PMID:21357678, PMID:22749829, PMID:22798622, PMID:23886664, PMID:24033266, PMID:24095155, PMID:24239060, PMID:24456932, PMID:24507666, PMID:24642510, PMID:24692096, PMID:25326635, PMID:25741868, PMID:26307083, PMID:26467025, PMID:27363342, PMID:27854218, PMID:27858751, PMID:28492532, PMID:32860008 NCBI chr 2:189,423,534...189,451,340
Ensembl chr 2:189,423,559...189,451,029
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:25741868, PMID:28492532, PMID:28815944, PMID:30291184 NCBI chr 4:129,604,378...129,619,136
Ensembl chr 4:129,604,267...129,619,142
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
ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive
ClinVar
OMIM
PMID:25741868, PMID:28017374 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
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 3:37,922,544...37,947,434
Ensembl chr 3:37,924,793...37,947,283
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 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Nemaline myopathy 2
ClinVar Annotator: match by OMIM:256030
ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive
OMIM
ClinVar
PMID:2838409, PMID:7739042, PMID:10051637, PMID:10931867, PMID:11309420, PMID:11851340, PMID:11994971, PMID:12207937, PMID:12207938, PMID:15221447, PMID:15266303, PMID:15336686, PMID:16917880, PMID:17525139, PMID:18330676, PMID:18414213, PMID:19232495, PMID:19346529, PMID:19763152, PMID:19805734, PMID:19944167, PMID:20307669, PMID:21148390, PMID:21350120, PMID:21520333, PMID:21724397, PMID:22183965, PMID:22367672, PMID:22406018, PMID:22941678, PMID:23443021, PMID:23555315, PMID:23572184, PMID:23715096, PMID:23726790, PMID:23826317, PMID:24033266, PMID:24046450, PMID:24056153, PMID:24725366, PMID:24753607, PMID:24972929, PMID:25079567, PMID:25110572, PMID:25203624, PMID:25205138, PMID:25205148, PMID:25214167, PMID:25296583, PMID:25356970, PMID:25473036, PMID:25525159, PMID:25589042, PMID:25589043, PMID:25741868, PMID:25741869, PMID:26019235, PMID:26036949, PMID:26197980, PMID:26403434, PMID:26467025, PMID:26573135, PMID:26578207, PMID:26809612, PMID:26809617, PMID:26841830, PMID:27066551, PMID:27105866, PMID:27168972, PMID:27357428, PMID:27739254, PMID:27854218, PMID:27884173, PMID:27933661, PMID:28131200, PMID:28132693, PMID:28336317, PMID:28391287, PMID:28403181, PMID:28492532, PMID:28600779, PMID:29070751, PMID:29382405, PMID:29392406, PMID:29669168, PMID:29689380, PMID:29754767, PMID:30057997, PMID:30311386, PMID:30369353, PMID:30467404, PMID:30679003 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:2838409, PMID:7739042, PMID:10051637, PMID:10931867, PMID:11309420, PMID:11851340, PMID:11994971, PMID:12207937, PMID:12207938, PMID:15221447, PMID:15266303, PMID:15336686, PMID:16917880, PMID:17525139, PMID:18414213, PMID:19805734, PMID:21148390, PMID:21520333, PMID:21724397, PMID:23443021, PMID:24033266, PMID:24046450, PMID:24056153, PMID:24725366, PMID:24972929, PMID:25110572, PMID:25205138, PMID:25356970, PMID:25525159, PMID:25741868, PMID:26019235, PMID:26197980, PMID:26403434, PMID:26467025, PMID:26809612, PMID:26809617, PMID:26841830, PMID:27066551, PMID:27105866, PMID:27357428, PMID:27884173, PMID:27933661, PMID:28132693, PMID:28492532, PMID:29382405, PMID:29669168, PMID:29689380, PMID:29754767, PMID:30057997, PMID:30311386, PMID:30467404 NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
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: Nemaline myopathy caused by mutation in the alpha-actin gene
ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive
ClinVar Annotator: match by synonym: Myopathy, actin, congenital, with cores
OMIM
ClinVar
PMID:15520409, PMID:18414213, PMID:19562689, PMID:24642510, PMID:25741868, PMID:26172852, PMID:28492532, PMID:30311386 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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: Nemaline myopathy 4
ClinVar Annotator: match by OMIM:609285
ClinVar Annotator: match by synonym: Cap myopathy 2
OMIM
ClinVar
PMID:11738357, PMID:17846275, PMID:18414213, PMID:18420702, PMID:18422639, PMID:19047562, PMID:22084935, PMID:23689010, PMID:23886664, PMID:24033266, PMID:24039757, PMID:24657080, PMID:24692096, PMID:25741868, PMID:25978979, PMID:27854218, PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
nemaline myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
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
PMID:10952871, PMID:12732643, PMID:15665378, PMID:18414213, PMID:24033266, PMID:24689076, PMID:25430424, PMID:25712079, PMID:25741868, PMID:26296490, PMID:26467025, PMID:27429059, PMID:27790152, PMID:28492532, PMID:29178646, PMID:10952871 RGD:737736 NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
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 8:71,034,630...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
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
ClinVar Annotator: match by OMIM:610687
OMIM
ClinVar
PMID:17160903, PMID:18414213, PMID:22560515, PMID:25741868, PMID:28492532 NCBI chr 6:75,759,140...75,763,185
Ensembl chr 6:75,759,140...75,763,185
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
ClinVar Annotator: match by OMIM:615348
OMIM
ClinVar
PMID:23746549, PMID:25741868, PMID:26467025, PMID:27528495, PMID:27762439, PMID:28492532, PMID:28973083, PMID:32352246 NCBI chr 8:130,416,265...130,421,871
Ensembl chr 8:130,416,355...130,421,871
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
ClinVar Annotator: match by OMIM:615731
OMIM
ClinVar
PMID:24268659, PMID:25558065, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:55,910,177...55,923,303
Ensembl chr 3:55,910,177...55,923,303
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
          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 1
          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 2
          nemaline myopathy 6 41
          nemaline myopathy 7 1
          nemaline myopathy 8 1
          nemaline myopathy 9 1
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
                        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 1
                        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 2
                        nemaline myopathy 6 41
                        nemaline myopathy 7 1
                        nemaline myopathy 8 1
                        nemaline myopathy 9 1
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.