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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:congenital structural myopathy
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Accession:DOID:422 term browser browse the term
Definition:A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Synonyms:exact_synonym: MTM1;   Myotubular Myopathies;   centronuclear myopathy, autosomal dominant;   congenital fiber type disproportion myopathy;   congenital non progressive myopathies;   congenital non-progressive myopathy;   congenital structural myopathies;   myotubular myopathy;   myotubular myopathy 1
 primary_id: MESH:D020914
 alt_id: OMIA:001374
 xref: NCI:C84648
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
congenital structural 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy		 CTD
ClinVar		 PMID:10508519 PMID:15226407 PMID:15236405 PMID:15468086 PMID:18059071 More... 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 Bin1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676042 NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263 		JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282 		JBrowse link
G Dnm2 dynamin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy		 CTD
ClinVar		 PMID:2734399 PMID:16227997 PMID:17008356 PMID:17376685 PMID:17932957 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO Centronuclear myopathy, HACD1-related OMIA PMID:977449 PMID:2458692 PMID:3421890 PMID:3662204 PMID:3750734 More... NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073 		JBrowse link
G Ldb3 LIM domain binding 3 ISO RGD PMID:11696561 RGD:1581815 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Mtm1 myotubularin 1 ISO myotubular myopathy, OMIM:310400, DNA:point mutation:exon:p.N207S (human)
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17376685 PMID:25741868 PMID:28492532 PMID:8640223 RGD:1600519 NCBI chr 6:488,691...506,964
Ensembl chr 6:488,969...506,860 		JBrowse link
G Mtmr14 myotubularin related protein 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy		 CTD
ClinVar		 PMID:17008356 PMID:25741868 PMID:28492532 NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990 		JBrowse link
G Myf6 myogenic factor 6 ISO centronuclear myopathy, OMIM:160150, DNA:point mutation:exon:A112S
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy		 ClinVar
RGD		 PMID:11053684 PMID:25741868 PMID:28492532 PMID:11053684 RGD:1600529 NCBI chr 7:42,813,008...42,814,852
Ensembl chr 7:42,812,792...42,814,852 		JBrowse link
G Myh7 myosin heavy chain 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy		 CTD
ClinVar		 PMID:1423936 PMID:1430197 PMID:1552912 PMID:1634614 PMID:1638703 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554 		JBrowse link
G Orai1 ORAI calcium release-activated calcium modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy		 CTD
ClinVar		 PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Selenon selenoprotein N ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
G Tpm2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Tpm3 tropomyosin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Myotubular myopathy ClinVar PMID:24033266 PMID:25589632 PMID:28492532 PMID:30609409 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Actin-Accumulation 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: Actin accumulation myopathy | ClinVar Annotator: match by term: Congenital myopathy with excess of thin filaments ClinVar PMID:1351946 PMID:4952447 PMID:9185179 PMID:9401010 PMID:9536098 More... NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 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: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617 		JBrowse link
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bin1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263 		JBrowse link
G Speg striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
central core disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Atp13a4 ATPase 13A4 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr11:71,222,196...71,359,933
Ensembl chr11:71,226,161...71,359,933 		JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:21990111 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:11139241 PMID:16123401 PMID:17964524 PMID:23049240 PMID:25741868 More... NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:18414213 PMID:21990111 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12434 PMID:16940 PMID:18253 PMID:1256913 PMID:1329581 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
centronuclear myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 OMIM
ClinVar		 PMID:2734399 PMID:16227997 PMID:18414213 PMID:20529869 PMID:20858595 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Mtmr14 myotubularin related protein 14 ISO OMIM NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990 		JBrowse link
G Myf6 myogenic factor 6 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:11053684 PMID:25741868 PMID:28492532 NCBI chr 7:42,813,008...42,814,852
Ensembl chr 7:42,812,792...42,814,852 		JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:43,065,800...43,211,400
Ensembl chr 7:43,067,644...43,223,592 		JBrowse link
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:43,482,808...43,593,689
Ensembl chr 7:43,482,803...43,593,425 		JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:42,837,109...43,016,917
Ensembl chr 7:42,837,109...43,016,917 		JBrowse link
centronuclear myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bin1 bridging integrator 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17676042 PMID:18414213 PMID:20142620 More... NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,576,212...23,583,177
Ensembl chr18:23,577,242...23,582,966 		JBrowse link
G Iws1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,695,496...23,737,363
Ensembl chr18:23,695,425...23,736,172 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,553,813...23,592,137
Ensembl chr18:23,553,937...23,592,137 		JBrowse link
G Map3k2 mitogen activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,807,218...23,879,722
Ensembl chr18:23,807,218...23,871,433 		JBrowse link
G Myo7b myosin VIIb ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,588,307...23,669,841
Ensembl chr18:23,588,307...23,669,809 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
centronuclear myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22818856 More... NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282 		JBrowse link
centronuclear myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:16688110 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10862084 PMID:12552569 PMID:15060124 PMID:15863657 PMID:16944272 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 OMIM
ClinVar		 PMID:25087613 PMID:25741868 PMID:28492532 NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
centronuclear myopathy 6 with fiber-type disproportion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion OMIM
ClinVar		 PMID:16760198 PMID:25741868 PMID:27816943 PMID:28492532 NCBI chr 3:57,128,561...57,289,943
Ensembl chr 3:57,130,551...57,289,626 		JBrowse link
centronuclear myopathy X-linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:17932957 PMID:18414213 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:149,368,900...149,373,486
Ensembl chr  X:149,368,900...149,373,486 		JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:149,296,309...149,301,294
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy OMIM
ClinVar		 PMID:2352255 PMID:7611280 PMID:8640223 PMID:9199578 PMID:9285787 More... NCBI chr 6:488,691...506,964
Ensembl chr 6:488,969...506,860 		JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541 		JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr  X:149,491,714...149,501,010
Ensembl chr  X:149,491,738...149,499,272 		JBrowse link
congenital fiber-type disproportion 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: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion OMIM
ClinVar		 PMID:10508519 PMID:10528865 PMID:15226407 PMID:15236405 PMID:15468086 More... NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders		 ClinVar PMID:1423936 PMID:1430197 PMID:1472461 PMID:1552912 PMID:1634614 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 PMID:32453731 PMID:33731536 NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders		 ClinVar PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age ClinVar PMID:25326635 PMID:25741868 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders OMIM
ClinVar		 PMID:7224095 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 More... NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion OMIM
ClinVar		 PMID:1221488 PMID:12163190 PMID:12467750 PMID:17376686 PMID:18300303 More... NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013 		JBrowse link
Congenital Neuromuscular Disease, with Uniform Type 1 Fiber term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber ClinVar PMID:9536098 PMID:10888602 PMID:11709545 PMID:11741831 PMID:12565913 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
distal muscular dystrophy Tateyama type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type OMIM
ClinVar		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
fatal infantile hypertonic myofibrillar myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy | ClinVar Annotator: match by term: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED OMIM
ClinVar		 PMID:1560021 PMID:11013455 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		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:9536098 PMID:17576681 PMID:25741868 PMID:25748484 PMID:26752647 More... NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695 		JBrowse link
multiminicore disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 PMID:30770808 NCBI chr 2:116,884,167...116,937,586
Ensembl chr 2:116,884,248...116,937,590 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy OMIM
ClinVar		 PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
myofibrillar myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy		 CTD
ClinVar		 PMID:21361913 PMID:21898660 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant ClinVar PMID:1560021 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy		 CTD
ClinVar		 PMID:10905661 PMID:14711882 PMID:14724127 PMID:15477095 PMID:16217025 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant ClinVar PMID:26467025 PMID:27642634 PMID:28422763 PMID:28492532 NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:25741868 PMID:28492532 PMID:32022900 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Ky kyphoscoliosis peptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:103,086,630...103,126,305
Ensembl chr 8:103,086,630...103,126,024 		JBrowse link
G Ldb3 LIM domain binding 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy		 CTD
ClinVar		 PMID:15668942 PMID:17337483 PMID:18765652 PMID:19377068 PMID:23861362 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:15111675 PMID:15947064 PMID:16684602 PMID:16793270 PMID:17784878 More... NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841 		JBrowse link
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:175,292,124...175,311,143
Ensembl chr 4:175,292,177...175,308,689 		JBrowse link
myofibrillar myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,035
Ensembl chr 9:76,677,404...76,687,986 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607 		JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1
CTD Direct Evidence: marker/mechanism
protein:altered expression:cardiomyocyte:		 OMIM
ClinVar
CTD
RGD		 PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 More... RGD:13542086 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Ldb3 LIM domain binding 3 ISS OMIM:601419 MouseDO NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124 		JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069 		JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523 		JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856 		JBrowse link
myofibrillar myopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Svil supervillin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 10 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32779703 NCBI chr17:52,648,502...52,844,114
Ensembl chr17:52,648,502...52,793,404 		JBrowse link
Myofibrillar Myopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45b unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Myofibrillar myopathy 11 OMIM
ClinVar		 PMID:25741868 PMID:31852522 PMID:33217308 NCBI chr10:67,845,382...67,873,389
Ensembl chr10:67,845,462...67,873,389 		JBrowse link
Myofibrillar Myopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY OMIM
ClinVar		 PMID:8673105 PMID:09535554 PMID:9673982 PMID:11102452 PMID:11748309 More... NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983 		JBrowse link
myofibrillar myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Myofibrillar myopathy 2 OMIM
ClinVar		 PMID:570292 PMID:8000975 PMID:9731540 PMID:11013455 PMID:12601044 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
myofibrillar myopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myot myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1598902 PMID:3275904 PMID:9536098 PMID:10958653 PMID:12428213 More... NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841 		JBrowse link
myofibrillar myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 4 OMIM
ClinVar		 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 PMID:15668942 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
myofibrillar myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1f ATPase H+ transporting V1 subunit F ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr 4:58,067,666...58,070,628 JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: FLNB-Related Disorders ClinVar PMID:20301736 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 OMIM
ClinVar		 PMID:2781633 PMID:9536098 PMID:15929027 PMID:16199547 PMID:17412757 More... NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Kcp kielin cysteine rich BMP regulator ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr 4:58,082,856...58,118,170
Ensembl chr 4:58,082,857...58,109,768 		JBrowse link
G Tnpo3 transportin 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr 4:58,142,954...58,220,365
Ensembl chr 4:58,143,001...58,220,433 		JBrowse link
myofibrillar myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 6 | ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related OMIM
ClinVar		 PMID:2159883 PMID:9536098 PMID:17576681 PMID:19085932 PMID:20301672 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Myofibrillar myopathy 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
myofibrillar myopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 7 ClinVar PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177 		JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 7 OMIM
ClinVar		 PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chr 8:103,086,630...103,126,305
Ensembl chr 8:103,086,630...103,126,024 		JBrowse link
myofibrillar myopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 8 OMIM
ClinVar		 PMID:25741868 PMID:27745833 PMID:28492532 PMID:30345904 PMID:31455395 More... NCBI chr 4:175,292,124...175,311,143
Ensembl chr 4:175,292,177...175,308,689 		JBrowse link
myofibrillar myopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure		 OMIM
ClinVar		 PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11310621 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Myosclerosis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis | ClinVar Annotator: match by term: Myosclerosis, autosomal recessive OMIM
ClinVar		 PMID:4793163 PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myosclerosis ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
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:16199547 PMID:16917880 PMID:19805734 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
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:7663526 PMID:7704029 PMID:9536098 PMID:10587521 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:9536098 PMID:17576681 PMID:18006477 PMID:22286171 PMID:23861362 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 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:18789687 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
spheroid body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myot myotilin ISO ClinVar Annotator: match by term: Spheroid body myopathy OMIM
ClinVar		 PMID:571956 PMID:15111675 PMID:15947064 PMID:16380616 PMID:16684602 More... NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    physical disorder 4333
      congenital structural myopathy 170
        Actin-Accumulation Myopathy 3
        Cap Myopathy + 0
        Myosclerosis, Autosomal Recessive 2
        Myotubular Myopathy with Abnormal Genital Development 0
        Pleoconial Myopathy with Salt Craving 0
        autosomal recessive centronuclear myopathy + 11
        central core disease + 7
        centronuclear myopathy 1 6
        centronuclear myopathy 2 8
        centronuclear myopathy 4 1
        centronuclear myopathy X-linked 7
        congenital fiber-type disproportion + 9
        distal muscular dystrophy Tateyama type 3
        multiminicore disease 3
        myofibrillar myopathy + 63
        nemaline myopathy + 64
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        peripheral nervous system disease 3065
          neuropathy 2847
            neuromuscular disease 2237
              muscular disease 1465
                muscle tissue disease 959
                  myopathy 787
                    congenital structural myopathy 170
                      Actin-Accumulation Myopathy 3
                      Cap Myopathy + 0
                      Myosclerosis, Autosomal Recessive 2
                      Myotubular Myopathy with Abnormal Genital Development 0
                      Pleoconial Myopathy with Salt Craving 0
                      autosomal recessive centronuclear myopathy + 11
                      central core disease + 7
                      centronuclear myopathy 1 6
                      centronuclear myopathy 2 8
                      centronuclear myopathy 4 1
                      centronuclear myopathy X-linked 7
                      congenital fiber-type disproportion + 9
                      distal muscular dystrophy Tateyama type 3
                      multiminicore disease 3
                      myofibrillar myopathy + 63
                      nemaline myopathy + 64
paths to the root