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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;   Myotubular Myopathies;   centronuclear myopathy, autosomal dominant;   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: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 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:10097181 PMID:11274444 PMID:11709545 PMID:11741831 PMID:12123492 PMID:12642598 PMID:15175001 PMID:15210166 PMID:15221887 PMID:16084090 PMID:16621918 PMID:16917943 PMID:17033962 PMID:17081152 PMID:17376685 PMID:17483490 PMID:18253926 PMID:18414213 PMID:18564801 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: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:25683120 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:12921789 PMID:15226407 PMID:15236405 PMID:15468086 PMID:16427282 PMID:16945536 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:26172852 PMID:26436962 PMID:26467025 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 Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Atp13a4 ATPase 13A4 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr11:74,833,824...74,968,160
Ensembl chr11:74,834,050...74,968,336
JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:79,828,321...79,838,212
Ensembl chr16:79,828,324...79,838,212
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 PMID:28492532 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Central core disease ClinVar PMID:15475483 PMID:15998779 PMID:18414213 PMID:24033266 PMID:24721642 PMID:25741868 PMID:26467025 PMID:27854218 PMID:27896052 PMID:28492532 PMID:28785654 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Shy-Magee syndrome ClinVar PMID:18414213 PMID:21990111 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Shy-Magee syndrome
ClinVar Annotator: match by term: Central core myopathy
ClinVar Annotator: match by term: Central core disease
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:23069638 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:25683120 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 PMID:31680349 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 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 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30311386 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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 PMID:17726231 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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 9:82,571,333...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:2352255 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:17537630 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 PMID:32805447 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 myopathy with fiber type disproportion
ClinVar Annotator: match by term: Congenital 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 Fiber-Type Disproportion
ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion
ClinVar Annotator: match by term: Congenital fiber-type disproportion
MouseDO
ClinVar
PMID:1743490 PMID:10097181 PMID:11274444 PMID:11709545 PMID:11741831 PMID:12123492 PMID:12642598 PMID:15175001 PMID:15210166 PMID:15221887 PMID:16084090 PMID:16621918 PMID:16917943 PMID:17033962 PMID:17081152 PMID:17483490 PMID:18253926 PMID:18414213 PMID:18564801 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: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:25683120 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:12163190 PMID:12467750 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: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: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:19191329 PMID:19191333 PMID:19346234 PMID:19513315 PMID:19807743 PMID:20142353 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:23553787 PMID:23558838 PMID:23628358 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:25073507 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 disease with external ophthalmoplegia
ClinVar Annotator: match by term: Minicore myopathy
ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
ClinVar Annotator: match by term: Multiminicore myopathy
ClinVar Annotator: match by term: Multiminicore Disease
ClinVar Annotator: match by OMIM:255320
OMIM
ClinVar
PMID:16940 PMID:18253 PMID:1743490 PMID:7299413 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: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:23069638 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:25683120 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 PMID:31680349 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Multiminicore Disease ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 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:25073507 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: Myofibrillar myopathy 1
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2R
ClinVar Annotator: match by term: DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY
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: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:17188893 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 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:32779703 NCBI chr17:55,230,298...55,425,967
Ensembl chr17:55,230,298...55,346,279
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:15929027 PMID:17412757 PMID:18414213 PMID:19050726 PMID:21520333 PMID:21620354 PMID:22961544 PMID:24033266 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:29858533 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
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related ClinVar PMID:25741868 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
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:29892087 PMID:29961767 PMID:29970176 PMID:30311386 PMID:30615648 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31127727 PMID:31795264 PMID:31983221 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:12207938 PMID:15336686 PMID:16917880 PMID:17525139 PMID:18330676 PMID:19232495 PMID:19805734 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:28492532 PMID:29389947 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:29389947 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: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: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 term: Nemaline myopathy 2, autosomal recessive
ClinVar Annotator: match by OMIM:256030
OMIM
ClinVar
PMID:7739042 PMID:10051637 PMID:10931867 PMID:11309420 PMID:11851340 PMID:11994971 PMID:12207937 PMID:12207938 PMID:15221447 PMID:15336686 PMID:16917880 PMID:17525139 PMID:18330676 PMID:18414213 PMID:19232495 PMID:19339519 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:29389947 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:7739042 PMID:10051637 PMID:10931867 PMID:11309420 PMID:11851340 PMID:11994971 PMID:12207938 PMID:15336686 PMID:16917880 PMID:17525139 PMID:18414213 PMID:19339519 PMID:19805734 PMID:21148390 PMID:21520333 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:28132693 PMID:28492532 PMID:29382405 PMID:29389947 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 Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Nemaline myopathy 5 ClinVar PMID:16835861 PMID:22246419 PMID:23006543 PMID:24411001 PMID:25741868 PMID:28492532 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
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 1:72,882,806...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 16085
    physical disorder 2526
      congenital structural myopathy 151
        Actin-Accumulation Myopathy 1
        Cap Myopathy + 0
        Minicore Myopathy with External Ophthalmoplegia 3
        Myosclerosis, Autosomal Recessive 2
        Myotubular Myopathy with Abnormal Genital Development 0
        Pleoconial Myopathy with Salt Craving 0
        autosomal recessive centronuclear myopathy + 4
        central core myopathy + 8
        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 + 56
        nemaline myopathy + 59
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    congenital structural myopathy 151
                      Actin-Accumulation Myopathy 1
                      Cap Myopathy + 0
                      Minicore Myopathy with External Ophthalmoplegia 3
                      Myosclerosis, Autosomal Recessive 2
                      Myotubular Myopathy with Abnormal Genital Development 0
                      Pleoconial Myopathy with Salt Craving 0
                      autosomal recessive centronuclear myopathy + 4
                      central core myopathy + 8
                      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 + 56
                      nemaline myopathy + 59
paths to the root