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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:myofibrillar myopathy
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Accession:DOID:0080307 term browser browse the term
Definition:A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. (DO)
Synonyms:exact_synonym: myofibrillar myopathies
 narrow_synonym: myofibrillar myopathy, dominant
 primary_id: MESH:C580316
 xref: GARD:10529;   NCI:C83009;   OMIM:PS601419
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
myofibrillar myopathy term browser
Symbol Object Name 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
fatal infantile hypertonic myofibrillar myopathy term browser
Symbol Object Name 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
myofibrillar myopathy 1 term browser
Symbol Object Name 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: Muscular dystrophy, limb-girdle, type 2r
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY
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:30614851 PMID:30847666, 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 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 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 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 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: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:29032884 PMID:31078652 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 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 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: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 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:30615648 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 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 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 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:28138913 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:29590070 PMID:29892087 PMID:29961767 PMID:29970176 PMID:30615648 PMID:30847666 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31127727 PMID:31215789 PMID:31795264 PMID:31983221 NCBI chr 3:63,565,160...63,837,815 JBrowse link
spheroid body myopathy term browser
Symbol Object Name 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 16091
    physical disorder 2462
      congenital structural myopathy 150
        myofibrillar myopathy 56
          fatal infantile hypertonic myofibrillar myopathy 1
          myofibrillar myopathy 1 42
          myofibrillar myopathy 10 1
          myofibrillar myopathy 2 1
          myofibrillar myopathy 3 1
          myofibrillar myopathy 4 1
          myofibrillar myopathy 5 2
          myofibrillar myopathy 6 2
          myofibrillar myopathy 7 3
          myofibrillar myopathy 8 1
          myofibrillar myopathy 9 1
          spheroid body myopathy 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    congenital structural myopathy 150
                      myofibrillar myopathy 56
                        fatal infantile hypertonic myofibrillar myopathy 1
                        myofibrillar myopathy 1 42
                        myofibrillar myopathy 10 1
                        myofibrillar myopathy 2 1
                        myofibrillar myopathy 3 1
                        myofibrillar myopathy 4 1
                        myofibrillar myopathy 5 2
                        myofibrillar myopathy 6 2
                        myofibrillar myopathy 7 3
                        myofibrillar myopathy 8 1
                        myofibrillar myopathy 9 1
                        spheroid body myopathy 1
paths to the root