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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: Fiber Type Disproportion Myopathy, Congenital;   MTM1;   Myopathy, Centronuclear, Autosomal Dominant;   Myotubular Myopathies;   congenital non progressive myopathies;   congenital non-progressive myopathy;   congenital structural myopathies;   myotubular myopathy;   myotubular myopathy 1
 primary_id: MESH:D020914
 alt_id: OMIA:001374;   RDO:0002591
 xref: NCI:C84648
For additional species annotation, visit the Alliance of Genome Resources.


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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:19562689, PMID:24642510, PMID:26172852, PMID:28492532, PMID:30311386 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 Bin1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676042 NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:15,155,839...15,160,039
Ensembl chr10:15,156,207...15,159,894
JBrowse link
G Dnm2 dynamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17376685 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
G Ldb3 LIM domain binding 3 ISO RGD PMID:11696561 RGD:1581815 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Mtm1 myotubularin 1 ISO myotubular myopathy, OMIM:310400, DNA:point mutation:exon:p.N207S (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:17376685, PMID:8640223 RGD:1600519 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:145,195,046...145,238,097
Ensembl chr 4:145,195,070...145,238,097
JBrowse link
G Myf6 myogenic factor 6 ISO centronuclear myopathy, OMIM:160150, DNA:point mutation:exon:A112S RGD PMID:11053684 RGD:1600529 NCBI chr 7:49,739,643...49,741,490
Ensembl chr 7:49,739,646...49,741,540
JBrowse link
G Myh7 myosin heavy chain 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
CTD
ClinVar
PMID:1430197, PMID:1552912, PMID:1638703, PMID:1944483, PMID:1975517, PMID:7581410, PMID:7662452, PMID:7731997, PMID:7848420, PMID:8186698, PMID:8254035, PMID:8268932, PMID:9105042, PMID:9140839, PMID:9826622, PMID:9835779, PMID:10024460, PMID:10065021, PMID:10328076, PMID:10521296, PMID:10725281, PMID:10750581, PMID:10882745, PMID:11133230, PMID:11186938, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11861410, PMID:11861413, PMID:11968089, PMID:12081993, PMID:12707239, PMID:12818575, PMID:12820698, PMID:12975413, PMID:15010274, PMID:15136674, PMID:15358028, PMID:15483641, PMID:15528230, PMID:15563892, PMID:15856146, PMID:15858117, PMID:16199542, PMID:16267253, PMID:16630449, PMID:16858239, PMID:16918501, PMID:17125710, PMID:17438619, PMID:17560888, PMID:17612745, PMID:18029407, PMID:18374998, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:18761664, PMID:19150014, PMID:19880069, PMID:20031618, PMID:20350521, PMID:20800588, PMID:21239446, PMID:21310275, PMID:21896538, PMID:21959974, PMID:22112859, PMID:22429680, PMID:22455086, PMID:22857948, PMID:23054336, PMID:23197161, PMID:23233322, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23396983, PMID:23403236, PMID:23549607, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23751935, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24298987, PMID:24503780, PMID:24510615, PMID:24691700, PMID:24704860, PMID:24793961, PMID:25031304, PMID:25132132, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25714468, PMID:25741868, PMID:25937619, PMID:26573135, PMID:26743238, PMID:26914223, PMID:26936621, PMID:26969327, PMID:27082122, PMID:27153395, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:27841901, PMID:27974200, PMID:28138913, PMID:28193612, PMID:28241245, PMID:28408708, PMID:28420666, PMID:28481356, PMID:28492532, PMID:28518168, PMID:28606303, PMID:28615295, PMID:28790153, PMID:29121657, PMID:29212898, PMID:29300372, PMID:30297972, PMID:30511546, PMID:31333075, PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
G Orai1 ORAI calcium release-activated calcium modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:38,981,903...38,995,570
Ensembl chr12:38,981,927...38,995,570
JBrowse link
G Ryr1 ryanodine receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
ClinVar Annotator: match by term: Myotubular myopathy
CTD
ClinVar
PMID:1743490, PMID:4149045, PMID:8661021, PMID:9199552, PMID:10097181, PMID:11274444, PMID:11709545, PMID:11741831, PMID:12123492, PMID:12642598, PMID:15175001, PMID:15210166, PMID:15221887, PMID:16084090, PMID:16163667, PMID:16380615, PMID:16621918, PMID:16917943, PMID:17033962, PMID:17081152, PMID:17376685, PMID:17483490, PMID:18253926, PMID:18414213, PMID:18564801, PMID:18765655, PMID:19191333, PMID:19648156, PMID:19825159, PMID:20583297, PMID:20681998, PMID:20839240, PMID:20888934, PMID:21062345, PMID:21674524, PMID:21825032, PMID:22203976, PMID:22473935, PMID:22992668, PMID:23329375, PMID:23394784, PMID:23553484, PMID:23558838, PMID:23826317, PMID:23919265, PMID:24033266, PMID:24088041, PMID:24195946, PMID:24361844, PMID:24433488, PMID:24561095, PMID:24950660, PMID:25084811, PMID:25214167, PMID:25256590, PMID:25326635, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25957634, PMID:25958340, PMID:25960145, PMID:25989378, PMID:26633545, PMID:27854218, PMID:27857962, PMID:28224104, PMID:28259615, PMID:28403410, PMID:28492532, PMID:28818389, PMID:29172004, PMID:30155738, PMID:30236257, PMID:30611313, PMID:30788618, PMID:31055738 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Selenon selenoprotein N ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:152,748,497...152,765,489
Ensembl chr 5:152,750,284...152,762,165
JBrowse link
G Stim1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
JBrowse link
G Tpm2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Tpm3 tropomyosin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:189,423,534...189,451,340
Ensembl chr 2:189,423,559...189,451,029
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: Congenital myopathy with excess of thin filaments ClinVar PMID:9185179, PMID:10508519, PMID:10528865, PMID:11333380, PMID:11525890, PMID:12601110, PMID:12921789, PMID:15226407, PMID:15236405, PMID:15468086, PMID:16427282, PMID:16945536, PMID:16967490, PMID:17227580, PMID:17387733, PMID:17705262, PMID:18414213, PMID:19206168, PMID:19553121, PMID:19562689, PMID:20303757, PMID:20621480, PMID:21514153, PMID:21520333, PMID:22442437, PMID:23102861, PMID:23294764, PMID:23394784, PMID:23650303, PMID:24033266, PMID:24642510, PMID:24787270, PMID:24852243, PMID:25182138, PMID:25214167, PMID:25326635, PMID:25470062, PMID:25525159, PMID:25635128, PMID:25741868, PMID:25890230, PMID:26172852, PMID:26436962, PMID:26467025, PMID:26507755, PMID:27447704, PMID:27854218, PMID:28256728, PMID:28357410, PMID:28416349, PMID:28492532, PMID:29274205, PMID:29792937, PMID:30253894, PMID:30311386, PMID:30354303 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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 ClinVar Annotator: match by OMIM:255200
ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive
ClinVar
CTD
PMID:17676042, PMID:18414213, PMID:20142620, PMID:22912834, PMID:22960267, PMID:24033266, PMID:24549043, PMID:24755653, PMID:25262827, PMID:25741868, PMID:26101835, PMID:26467025, PMID:28492532, PMID:29103045, PMID:29950440 NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
JBrowse link
G Speg striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:82,571,333...82,628,684
Ensembl chr 9:82,571,269...82,628,709
JBrowse link
central core myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Shy-Magee syndrome ClinVar PMID:27854218, PMID:28492532 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Shy-Magee syndrome
ClinVar Annotator: match by term: Central core disease
ClinVar Annotator: match by term: Central core myopathy
ClinVar Annotator: match by term: Congenital myopathy with cores
ClinVar Annotator: match by term: Central core disease, autosomal recessive
ClinVar Annotator: match by term: Myopathy, Central Core
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:117000
OMIM
ClinVar
CTD
PMID:12434, PMID:1256913, PMID:1743490, PMID:4149045, PMID:7547049, PMID:7586638, PMID:7829078, PMID:7889656, PMID:8220422, PMID:8220423, PMID:8592342, PMID:8661021, PMID:9030597, PMID:9199552, PMID:9334205, PMID:9497245, PMID:9873004, PMID:10051009, PMID:10097181, PMID:10484775, PMID:10612851, PMID:10823104, PMID:11063719, PMID:11113224, PMID:11274444, PMID:11448278, PMID:11524458, PMID:11575529, PMID:11709545, PMID:11741831, PMID:12059893, PMID:12112081, PMID:12123492, PMID:12124989, PMID:12136074, PMID:12151923, PMID:12208234, PMID:12411786, PMID:12411788, PMID:12434264, PMID:12467748, PMID:12565913, PMID:12566385, PMID:12642598, PMID:12709367, PMID:12937085, PMID:14570802, PMID:14670767, PMID:14708096, PMID:14732627, PMID:14985404, PMID:15108991, PMID:15175001, PMID:15210166, PMID:15221887, PMID:15299003, PMID:15448513, PMID:15731587, PMID:16084090, PMID:16163667, PMID:16272262, PMID:16284304, PMID:16372898, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16835904, PMID:16917943, PMID:16940308, PMID:16958053, PMID:16958617, PMID:17033962, PMID:17081152, PMID:17122579, PMID:17204054, PMID:17204937, PMID:17226826, PMID:17365175, PMID:17483490, PMID:17538032, PMID:17710899, PMID:18171678, PMID:18253926, PMID:18414213, PMID:18564801, PMID:18719443, PMID:18765655, PMID:19015156, PMID:19020143, PMID:19191329, PMID:19191333, PMID:19223216, PMID:19346234, PMID:19513315, PMID:19648156, PMID:19658156, PMID:19685112, PMID:19807743, PMID:19825159, PMID:19931341, PMID:20080402, PMID:20142353, PMID:20583297, PMID:20681998, PMID:20839240, PMID:20888934, PMID:20981092, PMID:21062345, PMID:21156754, PMID:21157159, PMID:21455645, PMID:21514828, PMID:21674524, PMID:21795085, PMID:21825032, PMID:21911697, PMID:21965348, PMID:21989361, PMID:22030266, PMID:22203976, PMID:22415532, PMID:22473935, PMID:22550088, PMID:22705209, PMID:22734812, PMID:22913516, PMID:22992668, PMID:22995991, PMID:23035052, PMID:23127960, PMID:23159934, PMID:23183335, PMID:23204524, PMID:23308296, PMID:23329375, PMID:23394784, PMID:23459219, PMID:23460944, PMID:23476141, PMID:23553484, PMID:23553787, PMID:23558838, PMID:23628358, PMID:23826317, PMID:23842196, PMID:23919265, PMID:24013571, PMID:24033266, PMID:24055113, PMID:24088041, PMID:24195946, PMID:24361844, PMID:24433488, PMID:24561095, PMID:24627108, PMID:24950660, PMID:24951453, PMID:25084811, PMID:25086907, PMID:25214167, PMID:25256590, PMID:25326635, PMID:25461839, PMID:25476234, PMID:25521991, PMID:25628744, PMID:25637381, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25747005, PMID:25957634, PMID:25958340, PMID:25960145, PMID:25985138, PMID:25989378, PMID:26332594, PMID:26381711, PMID:26467025, PMID:26633545, PMID:26684984, PMID:26951757, PMID:27147545, PMID:27153395, PMID:27382027, PMID:27447704, PMID:27555149, PMID:27586648, PMID:27663056, PMID:27854218, PMID:27857962, PMID:28224104, PMID:28259615, PMID:28326467, PMID:28403410, PMID:28492532, PMID:28527222, PMID:28687594, PMID:28818389, PMID:29169929, PMID:29172004, PMID:29178655, PMID:29382405, PMID:29635721, PMID:30122538, PMID:30155738, PMID:30236257, PMID:30311386, PMID:30325262, PMID:30499100, PMID:30611313, PMID:30724636, PMID:30788618, PMID:31055738, PMID:31135626, PMID:31680123 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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: Myopathy, centronuclear, 1
ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
OMIM
ClinVar
PMID:16227997, PMID:17008356, PMID:17932957, PMID:18414213, PMID:19130742, PMID:20227276, PMID:20529869, PMID:20700106, PMID:20817456, PMID:20858595, PMID:20927630, PMID:21221624, PMID:21762456, PMID:22096584, PMID:22369075, PMID:22396310, PMID:22613877, PMID:23338057, PMID:23394783, PMID:24016602, PMID:24033266, PMID:24088041, PMID:24135484, PMID:24366529, PMID:24465259, PMID:24728327, PMID:25214167, PMID:25262827, PMID:25326635, PMID:25492887, PMID:25501959, PMID:25741868, PMID:25957634, PMID:26199319, PMID:26273216, PMID:26467025, PMID:26633545, PMID:26842864, PMID:26908122, PMID:27343996, PMID:27854218, PMID:28492532, PMID:28676641, PMID:32860008 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:25741868 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 OMIM
ClinVar
PMID:17008356, PMID:25741868 NCBI chr 4:145,195,046...145,238,097
Ensembl chr 4:145,195,070...145,238,097
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, PMID:30311386 NCBI chr 7:49,739,643...49,741,490
Ensembl chr 7:49,739,646...49,741,540
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:31260566 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:51,768,469...51,935,442
Ensembl chr 7:51,794,173...51,935,142
JBrowse link
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:51,404,971...51,515,382
Ensembl chr 7:51,404,919...51,515,373
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
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 OMIM NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
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
ClinVar Annotator: match by OMIM:614807
OMIM
ClinVar
PMID:18414213, PMID:22818856, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:15,155,839...15,160,039
Ensembl chr10:15,156,207...15,159,894
JBrowse link
centronuclear myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 9:82,571,333...82,628,684
Ensembl chr 9:82,571,269...82,628,709
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 ClinVar
OMIM
PMID:16760198, PMID:27816943 NCBI chr 3:58,965,025...59,120,507
Ensembl chr 3:58,965,552...59,067,369
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 NCBI chr15:5,265,257...5,311,232
Ensembl chr15:5,265,307...5,311,233
Ensembl chr15:5,265,307...5,311,233
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Myotubular myopathy, X-linked
ClinVar Annotator: match by term: Severe X-linked myotubular myopathy
ClinVar PMID:17932957, PMID:18414213, PMID:20227276, PMID:20700106, PMID:22396310, PMID:23338057, PMID:24135484, PMID:25741868, PMID:25957634, PMID:26199319, PMID:28492532, PMID:32860008 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr17:36,771,578...36,776,225
Ensembl chr17:36,771,639...36,776,225
JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr17:36,690,190...36,694,329
Ensembl chr17:36,690,249...36,694,325
Ensembl chr14:36,690,249...36,694,325
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy
ClinVar Annotator: match by term: Myotubular myopathy, X-linked
ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1
ClinVar Annotator: match by OMIM:310400
OMIM
ClinVar
PMID:7611280, PMID:8640223, PMID:9199578, PMID:9285787, PMID:9305655, PMID:9450905, PMID:9829274, PMID:9858861, PMID:10063835, PMID:10215413, PMID:10449925, PMID:10502779, PMID:10714588, PMID:10726846, PMID:10790201, PMID:10900271, PMID:11552027, PMID:11793470, PMID:12031625, PMID:12118066, PMID:12467733, PMID:12522554, PMID:12646134, PMID:12707446, PMID:12859411, PMID:15725586, PMID:15883335, PMID:17005396, PMID:17973976, PMID:18414213, PMID:18817572, PMID:19084976, PMID:20358311, PMID:20434914, PMID:20500434, PMID:21135508, PMID:22520358, PMID:23071445, PMID:23917616, PMID:24033266, PMID:24381816, PMID:25741868, PMID:25957634, PMID:26338224, PMID:26467025, PMID:26938784, PMID:27017278, PMID:28492532, PMID:28685322, PMID:29567349 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr18:291,785...325,415
Ensembl chr18:291,780...325,377
JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:28492532 NCBI chr16:70,142,561...70,151,833
Ensembl chr16:70,142,761...70,242,979
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 Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar
OMIM
PMID:10528865, PMID:15468086, PMID:17387733, PMID:18414213, PMID:19562689, PMID:21520333, PMID:23757202, PMID:24033266, PMID:24642510, PMID:25741868, PMID:26172852, PMID:26467025, PMID:27447704, PMID:28492532, PMID:30311386 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Myh7 myosin heavy chain 7 ISS
ISO
OMIM:255310 | OMIM:300580
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
MouseDO
ClinVar
PMID:1430197, PMID:1552912, PMID:1638703, PMID:1944483, PMID:1975517, PMID:7581410, PMID:7662452, PMID:7731997, PMID:7848420, PMID:8186698, PMID:8254035, PMID:8268932, PMID:9105042, PMID:9140839, PMID:9826622, PMID:9835779, PMID:10024460, PMID:10065021, PMID:10328076, PMID:10521296, PMID:10725281, PMID:10750581, PMID:10882745, PMID:11133230, PMID:11186938, PMID:11447480, PMID:11498078, PMID:11723028, PMID:11861410, PMID:11861413, PMID:11968089, PMID:12081993, PMID:12707239, PMID:12818575, PMID:12820698, PMID:12975413, PMID:15010274, PMID:15136674, PMID:15358028, PMID:15483641, PMID:15528230, PMID:15563892, PMID:15856146, PMID:15858117, PMID:16199542, PMID:16267253, PMID:16630449, PMID:16858239, PMID:16918501, PMID:17125710, PMID:17438619, PMID:17560888, PMID:17612745, PMID:18029407, PMID:18374998, PMID:18383048, PMID:18403758, PMID:18409188, PMID:18414213, PMID:18533079, PMID:18761664, PMID:19150014, PMID:19880069, PMID:20031618, PMID:20350521, PMID:20800588, PMID:21239446, PMID:21310275, PMID:21896538, PMID:21959974, PMID:22112859, PMID:22429680, PMID:22455086, PMID:22857948, PMID:23054336, PMID:23197161, PMID:23233322, PMID:23283745, PMID:23290139, PMID:23299917, PMID:23396983, PMID:23403236, PMID:23549607, PMID:23674513, PMID:23690394, PMID:23711808, PMID:23751935, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24047955, PMID:24093860, PMID:24111713, PMID:24298987, PMID:24503780, PMID:24510615, PMID:24691700, PMID:24704860, PMID:24793961, PMID:25031304, PMID:25132132, PMID:25351510, PMID:25524337, PMID:25611685, PMID:25637381, PMID:25714468, PMID:25741868, PMID:25937619, PMID:26573135, PMID:26743238, PMID:26914223, PMID:26936621, PMID:26969327, PMID:27082122, PMID:27153395, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:27841901, PMID:27974200, PMID:28138913, PMID:28193612, PMID:28241245, PMID:28408708, PMID:28420666, PMID:28481356, PMID:28492532, PMID:28518168, PMID:28606303, PMID:28615295, PMID:28790153, PMID:29121657, PMID:29212898, PMID:29300372, PMID:30297972, PMID:30511546, PMID:31333075, PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Ryr1 ryanodine receptor 1 ISS
ISO
OMIM:255310 | OMIM:300580
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
MouseDO
ClinVar
PMID:1743490, PMID:4149045, PMID:8661021, PMID:9199552, PMID:10097181, PMID:11274444, PMID:11709545, PMID:11741831, PMID:12123492, PMID:12642598, PMID:15175001, PMID:15210166, PMID:15221887, PMID:16084090, PMID:16163667, PMID:16380615, PMID:16621918, PMID:16917943, PMID:17033962, PMID:17081152, PMID:17483490, PMID:18253926, PMID:18414213, PMID:18564801, PMID:18765655, PMID:19191333, PMID:19648156, PMID:19825159, PMID:20583297, PMID:20681998, PMID:20839240, PMID:20888934, PMID:21062345, PMID:21674524, PMID:21825032, PMID:22203976, PMID:22473935, PMID:22992668, PMID:23329375, PMID:23394784, PMID:23553484, PMID:23558838, PMID:23826317, PMID:23919265, PMID:24033266, PMID:24088041, PMID:24195946, PMID:24361844, PMID:24433488, PMID:24561095, PMID:24950660, PMID:25084811, PMID:25214167, PMID:25256590, PMID:25326635, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25957634, PMID:25958340, PMID:25960145, PMID:25989378, PMID:26633545, PMID:27854218, PMID:27857962, PMID:28224104, PMID:28259615, PMID:28403410, PMID:28492532, PMID:28818389, PMID:29172004, PMID:30155738, PMID:30236257, PMID:30611313, PMID:30788618, PMID:31055738 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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 chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar Annotator: match by term: SEPN1-Related Disorders
ClinVar
OMIM
PMID:11079538, PMID:11528383, PMID:12192640, PMID:12207930, PMID:15668457, PMID:15792869, PMID:16365872, PMID:17365175, PMID:17951086, PMID:18313359, PMID:18414213, PMID:18713863, PMID:19067361, PMID:20623375, PMID:21670436, PMID:23394784, PMID:24033266, PMID:24988964, PMID:25182138, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28688748, PMID:30921636 NCBI chr 5:152,748,497...152,765,489
Ensembl chr 5:152,750,284...152,762,165
JBrowse link
G Tpm2 tropomyosin 2 ISS OMIM:255310 | OMIM:300580 MouseDO NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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
ClinVar
OMIM
PMID:1221488, PMID:10619715, PMID:12163190, PMID:12196661, PMID:12467750, PMID:12601110, PMID:17376686, PMID:18300303, PMID:19487656, PMID:19553118, PMID:19953533, 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:25741868, PMID:26307083, PMID:26467025, PMID:27363342, PMID:27854218, PMID:28492532 NCBI chr 2:189,423,534...189,451,340
Ensembl chr 2:189,423,559...189,451,029
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:4149045, PMID:8661021, PMID:9199552, PMID:11709545, PMID:11741831, PMID:12565913, PMID:14732627, PMID:14985404, PMID:16084090, PMID:16163667, PMID:16372898, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16835904, PMID:16917943, PMID:16940308, PMID:17081152, PMID:17226826, PMID:17365175, PMID:17483490, PMID:17538032, PMID:18171678, PMID:18414213, PMID:18719443, PMID:18765655, PMID:19191329, PMID:19191333, PMID:19346234, PMID:19513315, PMID:19807743, PMID:20142353, PMID:20583297, PMID:20681998, PMID:20839240, PMID:20981092, PMID:21455645, PMID:21514828, PMID:21795085, PMID:21965348, PMID:22415532, PMID:22473935, PMID:22705209, PMID:22734812, PMID:22913516, PMID:22992668, PMID:22995991, PMID:23204524, PMID:23329375, PMID:23394784, PMID:23460944, PMID:23553484, PMID:23553787, PMID:23558838, PMID:23628358, PMID:23919265, PMID:24033266, PMID:24055113, PMID:24195946, PMID:24433488, PMID:25461839, PMID:25521991, PMID:25637381, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25960145, PMID:25985138, PMID:25989378, PMID:26332594, PMID:26467025, PMID:27147545, PMID:27153395, PMID:27555149, PMID:28492532, PMID:29178655, PMID:29382405, PMID:30122538, PMID:30311386, PMID:30325262, PMID:30724636, PMID:31135626 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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:10227634, PMID:10746614, PMID:11251997, PMID:11353417, PMID:11431690, PMID:11756609, PMID:11805270, PMID:11884389, PMID:12269726, PMID:12807393, PMID:12839838, PMID:12939441, PMID:14633633, PMID:14672715, PMID:15318349, PMID:15564037, PMID:15580566, PMID:16723230, PMID:16770780, PMID:17060380, PMID:17210839, PMID:17275750, PMID:17556197, PMID:17897828, PMID:18583131, PMID:18930476, PMID:19380584, PMID:20472890, PMID:21404291, PMID:21610159, PMID:23465283, PMID:23861362, PMID:24021552, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26467025, PMID:26498160, PMID:27061274, PMID:27483260, PMID:27930701, PMID:28492532, PMID:28981925, PMID:29961767, PMID:30055862 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
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, PMID:11805270, PMID:12269726, PMID:12807393, PMID:12839838, PMID:12939441, PMID:14633633, PMID:14672715, PMID:15318349, PMID:15564037, PMID:15580566, PMID:16723230, PMID:17556197, PMID:17897828, PMID:18583131, PMID:18930476, PMID:19380584, PMID:20472890, PMID:21404291, PMID:21610159, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27061274, PMID:28492532, PMID:28981925, PMID:30055862 NCBI chr 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
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 OMIM
ClinVar
PMID:1560021, PMID:11013455, PMID:16483541, PMID:16793013, PMID:17116488, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26265630, PMID:26467025, PMID:26694549, PMID:26961874, PMID:28492532, PMID:28690483, PMID:28798025 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
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
Minicore Myopathy with External Ophthalmoplegia 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 2:120,529,716...120,570,356
Ensembl chr 2:120,512,899...120,570,355
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
ClinVar Annotator: match by term: Minicore myopathy
ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
ClinVar Annotator: match by term: Multiminicore myopathy
ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
ClinVar Annotator: match by term: Multiminicore Disease
ClinVar Annotator: match by OMIM:255320
OMIM
ClinVar
PMID:16940, PMID:18253, PMID:1743490, PMID:4149045, PMID:7299413, PMID:8661021, PMID:9199552, PMID:9497245, PMID:10097181, PMID:10484775, PMID:11274444, PMID:11575529, PMID:11668625, PMID:11709545, PMID:11741831, PMID:12059893, PMID:12123492, PMID:12136074, PMID:12208234, PMID:12411786, PMID:12411788, PMID:12434264, PMID:12642598, PMID:12709367, PMID:12719381, PMID:14732627, PMID:15175001, PMID:15210166, PMID:15221887, PMID:15448513, PMID:15731587, PMID:16084090, PMID:16163667, PMID:16244001, PMID:16272262, PMID:16372898, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16835904, PMID:16917943, PMID:16940308, PMID:17033962, PMID:17081152, PMID:17226826, PMID:17365175, PMID:17483490, PMID:17710899, PMID:18171678, PMID:18253926, PMID:18414213, PMID:18564801, PMID:18719443, PMID:18765655, PMID:19191329, PMID:19191333, PMID:19223216, PMID:19346234, PMID:19513315, PMID:19648156, PMID:19807743, PMID:19825159, PMID:19931341, PMID:20080402, PMID:20142353, PMID:20583297, PMID:20681998, PMID:20839240, PMID:20888934, PMID:20981092, PMID:21062345, PMID:21157159, PMID:21455645, PMID:21514828, PMID:21674524, PMID:21795085, PMID:21825032, PMID:21911697, PMID:21965348, PMID:22203976, PMID:22415532, PMID:22473935, PMID:22705209, PMID:22734812, PMID:22913516, PMID:22992668, PMID:22995991, PMID:23035052, PMID:23204524, PMID:23329375, PMID:23394784, PMID:23460944, PMID:23476141, PMID:23553484, PMID:23553787, PMID:23558838, PMID:23628358, PMID:23826317, PMID:23919265, PMID:24013571, PMID:24033266, PMID:24055113, PMID:24088041, PMID:24195946, PMID:24215330, PMID:24361844, PMID:24433488, PMID:24561095, PMID:24950660, PMID:24951453, PMID:25084811, PMID:25214167, PMID:25256590, PMID:25326635, PMID:25461839, PMID:25466363, PMID:25476234, PMID:25637381, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25747005, PMID:25957634, PMID:25958340, PMID:25960145, PMID:25985138, PMID:25989378, PMID:26332594, PMID:26467025, PMID:26633545, PMID:26841830, PMID:27005958, PMID:27066551, PMID:27147545, PMID:27153395, PMID:27382027, PMID:27555149, PMID:27663056, PMID:27857962, PMID:28224104, PMID:28259615, PMID:28326467, PMID:28357410, PMID:28403410, PMID:28492532, PMID:28527222, PMID:28687594, PMID:28818389, PMID:29169929, PMID:29172004, PMID:29178655, PMID:29382405, PMID:29635721, PMID:30122538, PMID:30155738, PMID:30236257, PMID:30311386, PMID:30325262, PMID:30611313, PMID:30724636, PMID:30788618, PMID:31055738, PMID:31135626 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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, PMID:28492532 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
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, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26467025, PMID:26694549, PMID:26961874, PMID:28492532, PMID:28690483 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Myofibrillar myopathy
ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10905661, PMID:14724127, PMID:15477095, PMID:16217025, PMID:16519886, PMID:16828798, PMID:16865695, PMID:17325244, PMID:17626518, PMID:18414213, PMID:20474083, PMID:20718792, PMID:21842594, PMID:22215463, PMID:23143191, PMID:23168288, PMID:23806086, PMID:23861362, PMID:24033266, PMID:24088041, PMID:25214167, PMID:25736269, PMID:25741868, PMID:25928149, PMID:26467025, PMID:27930701, PMID:28416588, PMID:28492532, PMID:30055862 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
ClinVar Annotator: match by term: Myofibrillar myopathy
ClinVar PMID:28492532 NCBI chr 4:2,711,329...2,774,969
Ensembl chr 4:2,711,385...2,774,890
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:25741868 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:15929027, PMID:22961544, PMID:25741868, PMID:28492532 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Ky kyphoscoliosis peptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:110,982,777...111,022,666
Ensembl chr 8:110,982,777...111,022,385
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy
ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15668942, PMID:17337483, PMID:18765652, PMID:19377068, PMID:23861362, PMID:24033266, PMID:24647531, PMID:24668811, PMID:25208129, PMID:25741868, PMID:26467025, PMID:27618136, PMID:28349680, PMID:28492532 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy
ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
ClinVar PMID:15111675, PMID:16684602, PMID:16793270, PMID:19225410, PMID:19590214, PMID:21361873, PMID:21676617, PMID:22349301, PMID:25741868, PMID:26842778, PMID:28492532 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541
JBrowse link
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:176,565,733...176,581,976
Ensembl chr 4:176,565,694...176,581,952
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: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,373,950...82,382,228
Ensembl chr 9:82,373,946...82,382,272
JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,393,619...82,400,537
Ensembl chr 9:82,393,672...82,400,530
JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,382,800...82,393,429
Ensembl chr 9:82,382,800...82,393,382
JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,644,239...81,652,045
Ensembl chr 9:81,644,355...81,651,989
JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,120,059...82,121,527
Ensembl chr 9:82,120,059...82,121,527
JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,163,016...82,197,909
Ensembl chr 9:82,163,075...82,195,722
JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,783,349...81,808,815
Ensembl chr 9:81,783,349...81,808,805
JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,338,865...82,345,262
Ensembl chr 9:82,338,866...82,345,262
JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,151,056...82,154,266
Ensembl chr 9:82,151,057...82,154,266
JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,672,613...81,677,979
Ensembl chr 9:81,672,758...81,677,979
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2r
CTD Direct Evidence: marker/mechanism
protein:altered expression:cardiomyocyte:
ClinVar Annotator: match by OMIM:601419
OMIM
ClinVar
CTD
PMID:5828910, PMID:7672786, PMID:8114783, PMID:9382102, PMID:9697706, PMID:9736733, PMID:10430757, PMID:10545598, PMID:10717012, PMID:10905661, PMID:10970245, PMID:11061256, PMID:11073539, PMID:11668632, PMID:11728149, PMID:12410397, PMID:12609507, PMID:12620971, PMID:12766977, PMID:14326018, PMID:14648196, PMID:14711882, PMID:14724127, PMID:14991347, PMID:15050448, PMID:15477095, PMID:15800015, PMID:16009553, PMID:16217025, PMID:16449718, PMID:16519886, PMID:16806931, PMID:16828798, PMID:16865695, PMID:16890305, PMID:17105773, PMID:17221859, PMID:17325244, PMID:17418574, PMID:17439987, PMID:17626518, PMID:17720647, PMID:18061454, PMID:18414213, PMID:18539904, PMID:18563598, PMID:18653338, PMID:18765652, PMID:19005210, PMID:19151983, PMID:19181099, PMID:19433360, PMID:19587455, PMID:19716701, PMID:19763525, PMID:19879535, PMID:20171226, PMID:20301672, PMID:20423733, PMID:20448486, PMID:20474083, PMID:20696008, PMID:20718792, PMID:20829228, PMID:21262226, PMID:21520333, PMID:21842594, PMID:22106715, PMID:22153487, PMID:22215463, PMID:22275259, PMID:22337857, PMID:22395865, PMID:22403400, PMID:22484823, PMID:23032110, PMID:23143191, PMID:23155419, PMID:23168288, PMID:23299917, PMID:23300193, PMID:23349452, PMID:23396983, PMID:23425003, PMID:23575897, PMID:23687351, PMID:23785128, PMID:23806086, PMID:23815709, PMID:23861362, PMID:24033266, PMID:24088041, PMID:24200904, PMID:24503780, PMID:25171807, PMID:25179549, PMID:25214167, PMID:25394388, PMID:25557463, PMID:25590979, PMID:25736269, PMID:25741868, PMID:25928149, PMID:26265630, PMID:26272908, PMID:26431784, PMID:26467025, PMID:26633545, PMID:26724190, PMID:26789769, PMID:27393313, PMID:27532257, PMID:27854218, PMID:27930701, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28703267, PMID:29034897, PMID:29212896, PMID:29247119, PMID:29382405, PMID:29447731, PMID:29915097, PMID:30055862, PMID:30311386, PMID:30614851, PMID:28341603 RGD:13542086 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,505,529...82,514,399
Ensembl chr 9:82,505,530...82,514,399
JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,142,981...82,146,855
Ensembl chr 9:82,142,981...82,146,874
JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,400,457...82,410,970
Ensembl chr 9:82,400,569...82,410,904
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Ldb3 LIM domain binding 3 ISS OMIM:601419 MouseDO NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,675,275...81,675,359
Ensembl chr 9:81,675,275...81,675,359
JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,161,716...82,161,790
Ensembl chr 9:82,161,716...82,161,790
JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,230,230...82,327,923
Ensembl chr 9:82,230,232...82,327,534
JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,816,395...81,844,364
Ensembl chr 9:81,816,872...81,844,364
JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,566,074...81,634,531
Ensembl chr 9:81,566,074...81,634,534
JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,999,368...82,008,620
Ensembl chr 9:81,999,376...82,008,620
JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903
JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,470,794...82,477,136
Ensembl chr 9:82,470,759...82,477,181
JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,345,686...82,351,800
Ensembl chr 9:82,345,719...82,351,802
JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,873,293...81,880,172
Ensembl chr 9:81,873,171...81,880,105
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,328,007...82,338,576
Ensembl chr 9:82,328,173...82,336,806
JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,411,010...82,414,249
Ensembl chr 9:82,411,013...82,414,240
JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,880,175...81,908,014
Ensembl chr 9:81,880,177...81,907,273
JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,569,289...81,586,469
Ensembl chr 9:81,569,289...81,586,553
JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,925,363...81,961,882
Ensembl chr 9:81,940,630...81,954,686
JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,415,599...82,419,918
Ensembl chr 9:82,415,605...82,419,288
JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,717,626...81,818,421
Ensembl chr 9:81,716,876...81,772,851
JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,689,802...81,717,623
Ensembl chr 9:81,689,802...81,717,621
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,033,543...82,047,172
Ensembl chr 9:82,033,543...82,047,166
JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,370,887...82,373,843
Ensembl chr 9:82,370,924...82,373,839
JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,844,138...81,868,086
Ensembl chr 9:81,844,138...81,868,086
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: Alpha-B crystallinopathy
ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 2
ClinVar Annotator: match by OMIM:608810
OMIM
ClinVar
PMID:570292, PMID:8000975, PMID:9731540, PMID:11013455, PMID:12601044, PMID:12812987, PMID:14681890, PMID:16483541, PMID:21130652, PMID:21337604, PMID:21920752, PMID:24033266, PMID:25741868, PMID:26265630, PMID:26542570, PMID:27226619, PMID:28492532, PMID:28798025, PMID:32420686 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
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 OMIM:609200
ClinVar Annotator: match by term: Myofibrillar myopathy 3
ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction
ClinVar Annotator: match by term: Myotilinopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1598902, PMID:3275904, PMID:9027924, PMID:10958653, PMID:12428213, PMID:15111675, PMID:15947064, PMID:16684602, PMID:16793270, PMID:16801328, PMID:17221859, PMID:18335471, PMID:18653338, PMID:19225410, PMID:19590214, PMID:20981092, PMID:21336781, PMID:21361873, PMID:21676617, PMID:22021208, PMID:22349301, PMID:22995991, PMID:24033266, PMID:24781192, PMID:24928145, PMID:25208129, PMID:25617006, PMID:25741868, PMID:26342832, PMID:26467025, PMID:26842778, PMID:27854214, PMID:27884173, PMID:28492532, PMID:30055862 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541
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: MYOPATHY, MYOFIBRILLAR, 4 OMIM
ClinVar
PMID:11696561, PMID:14662268, PMID:15668942, PMID:17097056, PMID:17235623, PMID:17438622, PMID:19028670, PMID:19377068, PMID:19412328, PMID:20474083, PMID:20590677, PMID:20852297, PMID:22337857, PMID:22929165, PMID:23299917, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24503780, PMID:24647531, PMID:25041374, PMID:25163546, PMID:25214167, PMID:25326637, PMID:25351510, PMID:25616123, PMID:25617006, PMID:25741868, PMID:26419279, PMID:26467025, PMID:27435932, PMID:27532257, PMID:27884173, PMID:27896284, PMID:28349680, PMID:28492532, PMID:28798025, PMID:30311386, PMID:31333075, PMID:31568572 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
myofibrillar myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: FLNB-Related Disorders ClinVar NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related
ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 5
ClinVar Annotator: match by OMIM:609524
OMIM
ClinVar
PMID:15824355, PMID:15929027, PMID:17412757, PMID:18414213, PMID:19050726, PMID:21520333, PMID:21620354, PMID:22961544, PMID:24033266, PMID:25179549, PMID:25208129, PMID:25351925, PMID:25617006, PMID:25633252, PMID:25741868, PMID:26436962, PMID:26467025, PMID:26472074, PMID:26555887, PMID:26666891, PMID:26688388, PMID:26969713, PMID:27296017, PMID:27574918, PMID:27601210, PMID:27908349, PMID:28008423, PMID:28256728, PMID:28356264, PMID:28403181, PMID:28416588, PMID:28436997, PMID:28492532, PMID:29030401, PMID:29970176, PMID:30067491, PMID:30260051, PMID:30311386, PMID:30411535, PMID:30539912, PMID:31421687 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
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, BAG3-related
ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 6
OMIM
ClinVar
PMID:2159883, PMID:19085932, PMID:20605452, PMID:21353195, PMID:21361913, PMID:21459883, PMID:21676617, PMID:21898660, PMID:22337857, PMID:22734908, PMID:23582692, PMID:23861362, PMID:24033266, PMID:24558114, PMID:24623017, PMID:25008357, PMID:25208129, PMID:25273835, PMID:25326635, PMID:25448463, PMID:25728519, PMID:25741868, PMID:26392352, PMID:26467025, PMID:26512958, PMID:26545904, PMID:26899768, PMID:27042682, PMID:27164712, PMID:27321750, PMID:27443559, PMID:27896284, PMID:28359509, PMID:28436997, PMID:28492532, PMID:28611029, PMID:28669108, PMID:28704380, PMID:28737513, PMID:28750076, PMID:28754666, PMID:28798025, PMID:29016939, PMID:29247119, PMID:29382405, PMID:30012837, PMID:30373780, PMID:30377383, PMID:30559338, PMID:31333075, PMID:31568572 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
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: Myopathy, myofibrillar, 7 ClinVar PMID:27484770, PMID:27485408 NCBI chr 8:111,063,988...111,116,014
Ensembl chr 8:111,064,049...111,116,014
JBrowse link
G Ephb1 Eph receptor B1 ISO ClinVar Annotator: match by term: Myopathy, myofibrillar, 7 ClinVar PMID:27484770, PMID:27485408 NCBI chr 8:110,376,954...110,813,193
Ensembl chr 8:110,376,954...110,813,000
JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Myopathy, myofibrillar, 7 ClinVar
OMIM
PMID:27484770, PMID:27485408 NCBI chr 8:110,982,777...111,022,666
Ensembl chr 8:110,982,777...111,022,385
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: MYOPATHY, MYOFIBRILLAR, 8
ClinVar Annotator: match by term: Myopathy, myofibrillar, 8
ClinVar
OMIM
PMID:25741868, PMID:27745833, PMID:30345904, PMID:32037607 NCBI chr 4:176,565,733...176,581,976
Ensembl chr 4:176,565,694...176,581,952
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: Hereditary myopathy with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, 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
OMIM
PMID:1745277, PMID:10053013, PMID:10462489, PMID:11310621, PMID:11717165, PMID:12145747, PMID:12669942, PMID:15802564, PMID:16084088, PMID:17344846, PMID:17444505, PMID:18414213, PMID:18948003, PMID:19608031, PMID:20890277, PMID:21520333, PMID:21617319, PMID:21810661, PMID:22335739, PMID:22526018, PMID:22577215, PMID:22577218, PMID:22577220, PMID:23299917, PMID:23396983, PMID:23418287, PMID:23478172, PMID:23486992, PMID:23514108, PMID:23518707, PMID:23606733, PMID:23620651, PMID:23675308, PMID:23757202, PMID:23852418, PMID:23861362, PMID:23975875, PMID:23995273, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24105469, PMID:24231549, PMID:24271327, PMID:24315344, PMID:24384345, PMID:24395473, PMID:24440382, PMID:24444549, PMID:24459294, PMID:24503780, PMID:24558114, PMID:24569025, PMID:24575448, PMID:24578547, PMID:24636144, PMID:24892279, PMID:24980681, PMID:25016126, PMID:25145518, PMID:25163546, PMID:25214167, PMID:25253871, PMID:25447171, PMID:25498755, PMID:25500009, PMID:25556389, PMID:25589632, PMID:25626705, PMID:25741868, PMID:25772186, PMID:25783436, PMID:25889363, PMID:25979592, PMID:26269091, PMID:26272908, PMID:26383259, PMID:26467025, PMID:26498160, PMID:26516846, PMID:26518445, PMID:26559152, PMID:26627873, PMID:26701604, PMID:26718681, PMID:26777568, PMID:27066507, PMID:27194543, PMID:27273923, PMID:27585509, PMID:27588451, PMID:27650965, PMID:27788187, PMID:27854218, PMID:27854229, PMID:27868399, PMID:27930701, PMID:28045975, PMID:28166282, PMID:28256728, PMID:28492532, PMID:28578331, PMID:28600387, PMID:28750076, PMID:28771489, PMID:28822653, PMID:28831623, PMID:28857138, PMID:29099038, PMID:29221435, PMID:29361395, PMID:29386531, PMID:29540445, PMID:29970176, PMID:30311386, PMID:30615648, PMID:30924900, PMID:30993396, PMID:31127727 NCBI chr 3:63,565,160...63,837,815 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
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 OMIM:255600
ClinVar Annotator: match by term: Myosclerosis
ClinVar Annotator: match by term: Myosclerosis, autosomal recessive
OMIM
ClinVar
PMID:12840783, PMID:15689448, PMID:16130093, PMID:16935502, PMID:17886299, PMID:18378883, PMID:18414213, PMID:18852439, PMID:19309692, PMID:19564581, PMID:19949035, PMID:20576434, PMID:20976770, PMID:21280092, PMID:22992134, PMID:23040494, PMID:23757202, PMID:24033266, PMID:24038877, PMID:24314752, PMID:24801232, PMID:25535305, PMID:25741868, PMID:26467025, PMID:26752647, PMID:27447704, PMID:27456059, PMID:27782108, PMID:27854218, PMID:28492532, PMID:30564623 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
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 chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
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 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
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
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
ClinVar Annotator: match by OMIM:182920
OMIM
ClinVar
PMID:571956, PMID:16380616, PMID:22106715, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      congenital structural myopathy 140
        Actin-Accumulation Myopathy 1
        Cap Myopathy + 0
        Minicore Myopathy with External Ophthalmoplegia 2
        Myosclerosis, Autosomal Recessive 2
        Myotubular Myopathy with Abnormal Genital Development 0
        Pleoconial Myopathy with Salt Craving 0
        autosomal recessive centronuclear myopathy + 2
        central core myopathy + 2
        centronuclear myopathy 1 8
        centronuclear myopathy 2 1
        centronuclear myopathy 4 1
        centronuclear myopathy X-linked 7
        congenital fiber-type disproportion + 8
        distal muscular dystrophy Tateyama type 2
        myofibrillar myopathy + 54
        nemaline myopathy + 58
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
                      Actin-Accumulation Myopathy 1
                      Cap Myopathy + 0
                      Minicore Myopathy with External Ophthalmoplegia 2
                      Myosclerosis, Autosomal Recessive 2
                      Myotubular Myopathy with Abnormal Genital Development 0
                      Pleoconial Myopathy with Salt Craving 0
                      autosomal recessive centronuclear myopathy + 2
                      central core myopathy + 2
                      centronuclear myopathy 1 8
                      centronuclear myopathy 2 1
                      centronuclear myopathy 4 1
                      centronuclear myopathy X-linked 7
                      congenital fiber-type disproportion + 8
                      distal muscular dystrophy Tateyama type 2
                      myofibrillar myopathy + 54
                      nemaline myopathy + 58
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.