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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: DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY
ClinVar Annotator: match by term: Myofibrillar myopathy 1
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2r
CTD Direct Evidence: marker/mechanism
protein:altered expression:cardiomyocyte:
ClinVar Annotator: match by OMIM:601419
OMIM
ClinVar
CTD
PMID:5828910, PMID:7672786, PMID:8114783, PMID:9382102, PMID:9697706, PMID:9736733, PMID:10430757, PMID:10545598, PMID:10717012, PMID:10905661, PMID:10970245, PMID:11061256, PMID:11073539, PMID:11668632, PMID:11728149, PMID:12410397, PMID:12609507, PMID:12620971, PMID:12766977, PMID:14326018, PMID:14648196, PMID:14711882, PMID:14724127, PMID:14991347, PMID:15050448, PMID:15477095, PMID:15800015, PMID:16009553, PMID:16217025, PMID:16449718, PMID:16519886, PMID:16806931, PMID:16828798, PMID:16865695, PMID:16890305, PMID:17105773, PMID:17221859, PMID:17325244, PMID:17418574, PMID:17439987, PMID:17626518, PMID:17720647, PMID:18061454, PMID:18414213, PMID:18539904, PMID:18563598, PMID:18653338, PMID:18765652, PMID:19005210, PMID:19151983, PMID:19181099, PMID:19433360, PMID:19587455, PMID:19716701, PMID:19763525, PMID:19879535, PMID:20171226, PMID:20301672, PMID:20423733, PMID:20448486, PMID:20474083, PMID:20696008, PMID:20718792, PMID:20829228, PMID:21262226, PMID:21520333, PMID:21842594, PMID:22106715, PMID:22153487, PMID:22215463, PMID:22275259, PMID:22337857, PMID:22395865, PMID:22403400, PMID:22484823, PMID:23032110, PMID:23143191, PMID:23155419, PMID:23168288, PMID:23299917, PMID:23300193, PMID:23349452, PMID:23396983, PMID:23425003, PMID:23575897, PMID:23687351, PMID:23785128, PMID:23806086, PMID:23815709, PMID:23861362, PMID:24033266, PMID:24088041, PMID:24200904, PMID:24503780, PMID:25171807, PMID:25179549, PMID:25214167, PMID:25394388, PMID:25557463, PMID:25590979, PMID:25736269, PMID:25741868, PMID:25928149, PMID:26265630, PMID:26272908, PMID:26431784, PMID:26467025, PMID:26633545, PMID:26724190, PMID:26789769, PMID:27393313, PMID:27532257, PMID:27854218, PMID:27930701, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28703267, PMID:29034897, PMID:29212896, PMID:29247119, PMID:29382405, PMID:29447731, PMID:29915097, PMID:30055862, PMID:30311386, PMID:30614851, PMID:28341603 RGD:13542086 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,436,453...82,444,669
Ensembl chr 9:82,436,458...82,444,668
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,505,529...82,514,399
Ensembl chr 9:82,505,530...82,514,399
JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,142,981...82,146,855
Ensembl chr 9:82,142,981...82,146,874
JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,400,457...82,410,970
Ensembl chr 9:82,400,569...82,410,904
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Ldb3 LIM domain binding 3 ISS OMIM:601419 MouseDO NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,675,275...81,675,359
Ensembl chr 9:81,675,275...81,675,359
JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,161,716...82,161,790
Ensembl chr 9:82,161,716...82,161,790
JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,230,230...82,327,923
Ensembl chr 9:82,230,232...82,327,534
JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,816,395...81,844,364
Ensembl chr 9:81,816,872...81,844,364
JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,566,074...81,634,531
Ensembl chr 9:81,566,074...81,634,534
JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,999,368...82,008,620
Ensembl chr 9:81,999,376...82,008,620
JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,446,626...82,462,314
Ensembl chr 9:82,446,633...82,461,903
JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,470,794...82,477,136
Ensembl chr 9:82,470,759...82,477,181
JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,345,686...82,351,800
Ensembl chr 9:82,345,719...82,351,802
JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,873,293...81,880,172
Ensembl chr 9:81,873,171...81,880,105
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,328,007...82,338,576
Ensembl chr 9:82,328,173...82,336,806
JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,411,010...82,414,249
Ensembl chr 9:82,411,013...82,414,240
JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,880,175...81,908,014
Ensembl chr 9:81,880,177...81,907,273
JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,569,289...81,586,469
Ensembl chr 9:81,569,289...81,586,553
JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,925,363...81,961,882
Ensembl chr 9:81,940,630...81,954,686
JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,415,599...82,419,918
Ensembl chr 9:82,415,605...82,419,288
JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,717,626...81,818,421
Ensembl chr 9:81,716,876...81,772,851
JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,689,802...81,717,623
Ensembl chr 9:81,689,802...81,717,621
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,033,543...82,047,172
Ensembl chr 9:82,033,543...82,047,166
JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:82,370,887...82,373,843
Ensembl chr 9:82,370,924...82,373,839
JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 1 ClinVar PMID:28492532 NCBI chr 9:81,844,138...81,868,086
Ensembl chr 9:81,844,138...81,868,086
JBrowse link
Myofibrillar Myopathy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Svil supervillin ISO OMIM 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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: FLNB-Related Disorders ClinVar NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related
ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 5
ClinVar Annotator: match by OMIM:609524
OMIM
ClinVar
PMID:15824355, PMID:15929027, PMID:17412757, PMID:18414213, PMID:19050726, PMID:21520333, PMID:21620354, PMID:22961544, PMID:24033266, PMID:25179549, PMID:25208129, PMID:25351925, PMID:25617006, PMID:25633252, PMID:25741868, PMID:26436962, PMID:26467025, PMID:26472074, PMID:26555887, PMID:26666891, PMID:26688388, PMID:26969713, PMID:27296017, PMID:27574918, PMID:27601210, PMID:27908349, PMID:28008423, PMID:28256728, PMID:28356264, PMID:28403181, PMID:28416588, PMID:28436997, PMID:28492532, PMID:29030401, PMID:29970176, PMID:30067491, PMID:30260051, PMID:30311386, PMID:30411535, PMID:30539912, PMID:31421687 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
myofibrillar myopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related
ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 6
OMIM
ClinVar
PMID:2159883, PMID:19085932, PMID:20605452, PMID:21353195, PMID:21361913, PMID:21459883, PMID:21676617, PMID:21898660, PMID:22337857, PMID:22734908, PMID:23582692, PMID:23861362, PMID:24033266, PMID:24558114, PMID:24623017, PMID:25008357, PMID:25208129, PMID:25273835, PMID:25326635, PMID:25448463, PMID:25728519, PMID:25741868, PMID:26392352, PMID:26467025, PMID:26512958, PMID:26545904, PMID:26899768, PMID:27042682, PMID:27164712, PMID:27321750, PMID:27443559, PMID:27896284, PMID:28359509, PMID:28436997, PMID:28492532, PMID:28611029, PMID:28669108, PMID:28704380, PMID:28737513, PMID:28750076, PMID:28754666, PMID:28798025, PMID:29016939, PMID:29247119, PMID:29382405, PMID:30012837, PMID:30373780, PMID:30377383, PMID:30559338, PMID:31333075, PMID:31568572 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
myofibrillar myopathy 7 term browser
Symbol Object Name 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, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar
OMIM
PMID:1745277, PMID:10053013, PMID:10462489, PMID:11310621, PMID:11717165, PMID:12145747, PMID:12669942, PMID:15802564, PMID:16084088, PMID:17344846, PMID:17444505, PMID:18414213, PMID:18948003, PMID:19608031, PMID:20890277, PMID:21520333, PMID:21617319, PMID:21810661, PMID:22335739, PMID:22526018, PMID:22577215, PMID:22577218, PMID:22577220, PMID:23299917, PMID:23396983, PMID:23418287, PMID:23478172, PMID:23486992, PMID:23514108, PMID:23518707, PMID:23606733, PMID:23620651, PMID:23675308, PMID:23757202, PMID:23852418, PMID:23861362, PMID:23975875, PMID:23995273, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24105469, PMID:24231549, PMID:24271327, PMID:24315344, PMID:24384345, PMID:24395473, PMID:24440382, PMID:24444549, PMID:24459294, PMID:24503780, PMID:24558114, PMID:24569025, PMID:24575448, PMID:24578547, PMID:24636144, PMID:24892279, PMID:24980681, PMID:25016126, PMID:25145518, PMID:25163546, PMID:25214167, PMID:25253871, PMID:25447171, PMID:25498755, PMID:25500009, PMID:25556389, PMID:25589632, PMID:25626705, PMID:25741868, PMID:25772186, PMID:25783436, PMID:25889363, PMID:25979592, PMID:26269091, PMID:26272908, PMID:26383259, PMID:26467025, PMID:26498160, PMID:26516846, PMID:26518445, PMID:26559152, PMID:26627873, PMID:26701604, PMID:26718681, PMID:26777568, PMID:27066507, PMID:27194543, PMID:27273923, PMID:27585509, PMID:27588451, PMID:27650965, PMID:27788187, PMID:27854218, PMID:27854229, PMID:27868399, PMID:27930701, PMID:28045975, PMID:28166282, PMID:28256728, PMID:28492532, PMID:28578331, PMID:28600387, PMID:28750076, PMID:28771489, PMID:28822653, PMID:28831623, PMID:28857138, PMID:29099038, PMID:29221435, PMID:29361395, PMID:29386531, PMID:29540445, PMID:29970176, PMID:30311386, PMID:30615648, PMID:30924900, PMID:30993396, PMID:31127727 NCBI chr 3:63,565,160...63,837,815 JBrowse link
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 16045
    Developmental Diseases 9510
      congenital structural myopathy 141
        myofibrillar myopathy 55
          Myofibrillar Myopathy 10 1
          fatal infantile hypertonic myofibrillar myopathy 1
          myofibrillar myopathy 1 42
          myofibrillar myopathy 2 1
          myofibrillar myopathy 3 1
          myofibrillar myopathy 4 1
          myofibrillar myopathy 5 2
          myofibrillar myopathy 6 1
          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 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                muscle tissue disease 813
                  myopathy 670
                    congenital structural myopathy 141
                      myofibrillar myopathy 55
                        Myofibrillar Myopathy 10 1
                        fatal infantile hypertonic myofibrillar myopathy 1
                        myofibrillar myopathy 1 42
                        myofibrillar myopathy 2 1
                        myofibrillar myopathy 3 1
                        myofibrillar myopathy 4 1
                        myofibrillar myopathy 5 2
                        myofibrillar myopathy 6 1
                        myofibrillar myopathy 7 3
                        myofibrillar myopathy 8 1
                        myofibrillar myopathy 9 1
                        spheroid body myopathy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.