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
Accession: DOID:0080307
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 .
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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 More...
NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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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 More...
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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Des
desmin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy
CTD ClinVar
PMID:10905661 PMID:14711882 PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17221859 PMID:17325244 PMID:17626518 PMID:18414213 PMID:20474083 PMID:20718792 PMID:20981092 PMID:21262226 PMID:21842594 PMID:22215463 PMID:22337857 PMID:23051780 PMID:23143191 PMID:23168288 PMID:23299917 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:25214167 PMID:25617006 PMID:25736269 PMID:25741868 PMID:25928149 PMID:26467025 PMID:27618136 PMID:27697855 PMID:27896284 PMID:27930701 PMID:28166811 PMID:28416588 PMID:28492532 PMID:28798025 PMID:29892087 PMID:29926427 PMID:30055862 PMID:30190612 PMID:30847666 PMID:32142595 PMID:32150461 PMID:33652119 More...
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Dnajb6
DnaJ heat shock protein family (Hsp40) member B6
ISO
ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
ClinVar
PMID:26467025 PMID:27642634 PMID:28422763 PMID:28492532
NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659
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Dnm2
dynamin 2
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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Flnc
filamin C
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy
ClinVar
PMID:25741868 PMID:28492532 PMID:32022900
NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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Ky
kyphoscoliosis peptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:103,086,630...103,126,305
Ensembl chr 8:103,086,630...103,126,024
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Ldb3
LIM domain binding 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy
CTD ClinVar
PMID:15668942 PMID:17337483 PMID:18765652 PMID:19377068 PMID:23861362 PMID:24033266 PMID:24647531 PMID:24668811 PMID:25208129 PMID:25741868 PMID:26467025 PMID:27618136 PMID:28349680 PMID:28492532 PMID:33742095 More...
NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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Myot
myotilin
ISO
ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy
ClinVar
PMID:15111675 PMID:15947064 PMID:16684602 PMID:16793270 PMID:17784878 PMID:17931355 PMID:19225410 PMID:19590214 PMID:21361873 PMID:21676617 PMID:22021208 PMID:22349301 PMID:25741868 PMID:26467025 PMID:26842778 PMID:27618136 PMID:28166811 PMID:28492532 PMID:32041727 More...
NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
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Pyroxd1
pyridine nucleotide-disulphide oxidoreductase domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:175,292,124...175,311,143
Ensembl chr 4:175,292,177...175,308,689
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Cryab
crystallin, alpha B
ISO
ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy | ClinVar Annotator: match by term: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
OMIM ClinVar
PMID:1560021 PMID:11013455 PMID:16483541 PMID:16793013 PMID:17116488 PMID:19282282 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 More...
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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Ankzf1
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469
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Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,677,403...76,688,035
Ensembl chr 9:76,677,404...76,687,986
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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Cdk5r2
cyclin-dependent kinase 5 regulatory subunit 2
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
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Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
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Cnot9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
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Cnppd1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
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Cryba2
crystallin, beta A2
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Des
desmin
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1 CTD Direct Evidence: marker/mechanism protein:altered expression:cardiomyocyte:
OMIM ClinVar CTD RGD
PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 PMID:9697706 PMID:9736733 PMID:10430757 PMID:10545598 PMID:10717012 PMID:10905661 PMID:10970245 PMID:11061256 PMID:11073539 PMID:11310634 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:15759133 PMID:15800015 PMID:16009553 PMID:16199547 PMID:16217025 PMID:16519886 PMID:16806931 PMID:16828798 PMID:16865695 PMID:16890305 PMID:17105773 PMID:17188893 PMID:17221859 PMID:17325244 PMID:17439987 PMID:17576681 PMID:17626518 PMID:17720647 PMID:18061454 PMID:18414213 PMID:18539904 PMID:18563598 PMID:18653338 PMID:18765652 PMID:19105189 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:20981092 PMID:21135508 PMID:21262226 PMID:21520333 PMID:21676617 PMID:21842594 PMID:22106715 PMID:22153487 PMID:22215463 PMID:22275259 PMID:22337857 PMID:22395865 PMID:22403400 PMID:22484823 PMID:23051780 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:24503780 PMID:25163546 PMID:25171807 PMID:25214167 PMID:25333361 PMID:25394388 PMID:25557463 PMID:25590979 PMID:25617006 PMID:25736269 PMID:25741868 PMID:25928149 PMID:26265630 PMID:26272908 PMID:26467025 PMID:26633545 PMID:26724190 PMID:26789769 PMID:27393313 PMID:27532257 PMID:27561770 PMID:27618136 PMID:27697855 PMID:27810088 PMID:27854218 PMID:27896284 PMID:27930701 PMID:28166811 PMID:28171858 PMID:28256728 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28588093 PMID:28611029 PMID:28703267 PMID:28798025 PMID:29034897 PMID:29247119 PMID:29382405 PMID:29386531 PMID:29447731 PMID:29892087 PMID:29915097 PMID:29915714 PMID:29926427 PMID:30023281 PMID:30055862 PMID:30062237 PMID:30190612 PMID:30323756 PMID:30531895 PMID:30614851 PMID:30615648 PMID:30677492 PMID:30755392 PMID:30764827 PMID:30847666 PMID:31371504 PMID:31609036 PMID:31718026 PMID:31912959 PMID:31953240 PMID:32093415 PMID:32105824 PMID:32142595 PMID:32150461 PMID:32235386 PMID:32397162 PMID:32403337 PMID:32528171 PMID:32746448 PMID:33023321 PMID:33373648 PMID:33505848 PMID:33546848 PMID:33652119 PMID:33673806 PMID:33874732 PMID:34315782 PMID:34426522 PMID:28341603 More...
RGD:13542086
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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Fev
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
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Glb1l
galactosidase, beta 1-like
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Ldb3
LIM domain binding 3
ISS
OMIM:601419
MouseDO
NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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Mir26b
microRNA 26b
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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Mir375
microRNA 375
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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Nhej1
nonhomologous end-joining factor 1
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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Plcd4
phospholipase C, delta 4
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
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Pnkd
PNKD metallo-beta-lactamase domain containing
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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Prkag3
protein kinase AMP-activated non-catalytic subunit gamma 3
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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Resp18
regulated endocrine-specific protein 18
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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Slc11a1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Slc23a3
solute carrier family 23, member 3
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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Smchd1
structural maintenance of chromosomes flexible hinge domain containing 1
ISO
ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs
ClinVar
NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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Speg
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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Tmbim1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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Ttll4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
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Ttn
titin
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:25741868
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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Tuba4a
tubulin, alpha 4A
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
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Vil1
villin 1
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Wnt6
Wnt family member 6
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
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Zfand2b
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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Zfp142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy
ClinVar
PMID:28492532
NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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Svil
supervillin
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 10
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32779703
NCBI chr17:52,648,502...52,844,114
Ensembl chr17:52,648,502...52,793,404
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Unc45b
unc-45 myosin chaperone B
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 11
OMIM ClinVar
PMID:25741868 PMID:31852522 PMID:33217308
NCBI chr10:67,845,382...67,873,389
Ensembl chr10:67,845,462...67,873,389
G
Myl2
myosin light chain 2
ISO
ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY
OMIM ClinVar
PMID:8673105 PMID:09535554 PMID:9673982 PMID:11102452 PMID:11748309 PMID:12404107 PMID:12668451 PMID:12707239 PMID:14594949 PMID:15483641 PMID:16837010 PMID:18929571 PMID:19150977 PMID:20855589 PMID:21415409 PMID:22260945 PMID:22958901 PMID:23299917 PMID:23343568 PMID:23365102 PMID:23861362 PMID:24033266 PMID:24111713 PMID:24842367 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26116789 PMID:26284228 PMID:27378946 PMID:27435932 PMID:27532257 PMID:28166811 PMID:28356264 PMID:28467684 PMID:28492532 PMID:28518168 PMID:28640247 PMID:28855170 PMID:29447731 PMID:30291343 PMID:30847666 PMID:31847883 PMID:31980526 PMID:32453731 PMID:32665702 PMID:33558530 PMID:33731536 More...
NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
G
Cryab
crystallin, alpha B
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 2
OMIM ClinVar
PMID:570292 PMID:8000975 PMID:9731540 PMID:11013455 PMID:12601044 PMID:12812987 PMID:14681890 PMID:16483541 PMID:19282282 PMID:20301672 PMID:21130652 PMID:21337604 PMID:21920752 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25741868 PMID:26265630 PMID:26467025 PMID:26542570 PMID:26961874 PMID:27226619 PMID:28492532 PMID:28798025 PMID:31127727 PMID:32420686 PMID:32430163 More...
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
G
Myot
myotilin
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1598902 PMID:3275904 PMID:9536098 PMID:10958653 PMID:12428213 PMID:15111675 PMID:15947064 PMID:16684602 PMID:16793270 PMID:16801328 PMID:17221859 PMID:17576681 PMID:17784878 PMID:17931355 PMID:18335471 PMID:18414213 PMID:18653338 PMID:19225410 PMID:19240791 PMID:19590214 PMID:20301672 PMID:20981092 PMID:21336781 PMID:21361873 PMID:21676617 PMID:22021208 PMID:22349301 PMID:22995991 PMID:24033266 PMID:24781192 PMID:25208129 PMID:25617006 PMID:25741868 PMID:26257771 PMID:26467025 PMID:26842778 PMID:27618136 PMID:27854214 PMID:27884173 PMID:28166811 PMID:28492532 PMID:30055862 PMID:31404076 PMID:31407473 PMID:32041727 PMID:32419263 More...
NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
G
Ldb3
LIM domain binding 3
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 4
OMIM ClinVar
PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 PMID:15668942 PMID:16427346 PMID:16476425 PMID:17097056 PMID:17235623 PMID:17337483 PMID:17394203 PMID:17438622 PMID:17576681 PMID:18055494 PMID:18765652 PMID:19028670 PMID:19377068 PMID:19412328 PMID:20301672 PMID:20474083 PMID:20590677 PMID:20852297 PMID:21520333 PMID:21676617 PMID:22337857 PMID:22349865 PMID:22464770 PMID:22619057 PMID:22929165 PMID:22995991 PMID:23263837 PMID:23299917 PMID:23396983 PMID:23558691 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24503780 PMID:24647531 PMID:24668811 PMID:24730657 PMID:25041374 PMID:25163546 PMID:25179549 PMID:25208129 PMID:25214167 PMID:25326637 PMID:25351510 PMID:25616123 PMID:25617006 PMID:25741868 PMID:26084686 PMID:26350513 PMID:26383259 PMID:26419279 PMID:26467025 PMID:26636822 PMID:26886200 PMID:27005929 PMID:27135274 PMID:27435932 PMID:27532257 PMID:27561770 PMID:27618136 PMID:27662471 PMID:27884173 PMID:27896284 PMID:28082330 PMID:28166811 PMID:28349680 PMID:28492532 PMID:28518168 PMID:28798025 PMID:28821295 PMID:29032884 PMID:29247119 PMID:29517769 PMID:30026549 PMID:30775854 PMID:30847666 PMID:31078652 PMID:31333075 PMID:31376648 PMID:31471687 PMID:31568572 PMID:31737537 PMID:31931689 PMID:31983221 PMID:32183154 PMID:32721234 PMID:32746448 PMID:32880476 PMID:33029862 PMID:33297573 PMID:33500567 PMID:33552729 PMID:33742095 PMID:33815637 PMID:34935411 PMID:35284542 More...
NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
G
Atp6v1f
ATPase H+ transporting V1 subunit F
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 5
ClinVar
PMID:28492532
NCBI chr 4:58,067,666...58,070,628
G
Flnb
filamin B
ISO
ClinVar Annotator: match by term: FLNB-Related Disorders
ClinVar
PMID:20301736
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
G
Flnc
filamin C
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related
OMIM ClinVar
PMID:2781633 PMID:9536098 PMID:15929027 PMID:16199547 PMID:17412757 PMID:17576681 PMID:18414213 PMID:19050726 PMID:21135393 PMID:21520333 PMID:21620354 PMID:22961544 PMID:23109048 PMID:24033266 PMID:24972929 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:26863999 PMID:26969713 PMID:27171548 PMID:27296017 PMID:27574918 PMID:27601210 PMID:27896284 PMID:27908349 PMID:28008423 PMID:28138913 PMID:28166811 PMID:28256728 PMID:28356264 PMID:28403181 PMID:28416588 PMID:28436997 PMID:28492532 PMID:28664140 PMID:28749476 PMID:28781516 PMID:28866788 PMID:28902392 PMID:29030401 PMID:29144512 PMID:29212899 PMID:29235529 PMID:29517769 PMID:29650767 PMID:29706348 PMID:29792937 PMID:29858533 PMID:29970176 PMID:30025578 PMID:30067491 PMID:30086531 PMID:30118858 PMID:30260051 PMID:30403391 PMID:30411535 PMID:30418145 PMID:30471092 PMID:30539912 PMID:30685713 PMID:30734317 PMID:30847666 PMID:30919686 PMID:30935706 PMID:30975432 PMID:30996762 PMID:31127727 PMID:31245841 PMID:31376648 PMID:31421687 PMID:31513939 PMID:31624253 PMID:31627847 PMID:31918855 PMID:31924696 PMID:32022900 PMID:32037394 PMID:32112656 PMID:32160020 PMID:32528171 PMID:32532510 PMID:32603605 PMID:32746448 PMID:33041974 PMID:33710525 PMID:33874732 PMID:33890751 PMID:34935411 More...
NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
G
Irf5
interferon regulatory factor 5
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 5
ClinVar
PMID:28492532
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
G
Kcp
kielin cysteine rich BMP regulator
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 5
ClinVar
PMID:28492532
NCBI chr 4:58,082,856...58,118,170
Ensembl chr 4:58,082,857...58,109,768
G
Tnpo3
transportin 3
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 5
ClinVar
PMID:28492532
NCBI chr 4:58,142,954...58,220,365
Ensembl chr 4:58,143,001...58,220,433
G
Bag3
BAG cochaperone 3
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 6 | ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related
OMIM ClinVar
PMID:2159883 PMID:9536098 PMID:17576681 PMID:19085932 PMID:20301672 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:25617006 PMID:25640679 PMID:25728519 PMID:25741868 PMID:25925243 PMID:26272908 PMID:26392352 PMID:26467025 PMID:26512958 PMID:26545904 PMID:26899768 PMID:27042682 PMID:27164712 PMID:27321750 PMID:27443559 PMID:27896284 PMID:28166811 PMID:28224639 PMID:28254189 PMID:28359509 PMID:28416588 PMID:28436997 PMID:28492532 PMID:28669108 PMID:28704380 PMID:28737513 PMID:28750076 PMID:28754666 PMID:28798025 PMID:29016939 PMID:29247119 PMID:29338979 PMID:29382405 PMID:30012837 PMID:30061062 PMID:30140897 PMID:30145633 PMID:30373780 PMID:30377383 PMID:30384889 PMID:30442290 PMID:30559338 PMID:30615648 PMID:30847666 PMID:31333075 PMID:31395899 PMID:31568572 PMID:31737537 PMID:31983221 PMID:32160020 PMID:32458740 PMID:32859500 PMID:33146414 PMID:33658040 PMID:33917638 PMID:34036930 PMID:34117258 PMID:34213952 PMID:34426522 PMID:35029900 More...
NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
G
Cd46
CD46 molecule
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 6
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
G
Cep63
centrosomal protein 63
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 7
ClinVar
PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934
NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
G
Ky
kyphoscoliosis peptidase
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 7
OMIM ClinVar
PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934
NCBI chr 8:103,086,630...103,126,305
Ensembl chr 8:103,086,630...103,126,024
G
Pyroxd1
pyridine nucleotide-disulphide oxidoreductase domain 1
ISO
ClinVar Annotator: match by term: Myofibrillar myopathy 8
OMIM ClinVar
PMID:25741868 PMID:27745833 PMID:28492532 PMID:30345904 PMID:31455395 PMID:32037607 More...
NCBI chr 4:175,292,124...175,311,143
Ensembl chr 4:175,292,177...175,308,689
G
Ttn
titin
ISO
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
OMIM ClinVar
PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11310621 PMID:11717165 PMID:11846417 PMID:12145747 PMID:12669942 PMID:15802564 PMID:16084088 PMID:17344846 PMID:17444505 PMID:17576681 PMID:18414213 PMID:18948003 PMID:19608031 PMID:19911250 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:23446887 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:24119082 PMID:24231549 PMID:24271327 PMID:24315344 PMID:24384345 PMID:24395473 PMID:24440382 PMID:24444549 PMID:24459294 PMID:24476948 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24575448 PMID:24578547 PMID:24636144 PMID:24781210 PMID:24892279 PMID:24980681 PMID:25016126 PMID:25037085 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25253871 PMID:25326635 PMID:25332820 PMID:25363768 PMID:25447171 PMID:25448463 PMID:25498755 PMID:25500009 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25783436 PMID:25825243 PMID:25889363 PMID:25979592 PMID:25987458 PMID:26265630 PMID:26269091 PMID:26272908 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26518445 PMID:26522830 PMID:26559152 PMID:26567375 PMID:26573135 PMID:26597493 PMID:26627873 PMID:26676851 PMID:26701604 PMID:26718681 PMID:26735901 PMID:26773040 PMID:26777568 PMID:27040692 PMID:27066507 PMID:27066551 PMID:27194543 PMID:27273923 PMID:27302369 PMID:27321809 PMID:27400856 PMID:27418678 PMID:27437900 PMID:27437901 PMID:27493940 PMID:27532257 PMID:27566442 PMID:27585509 PMID:27588451 PMID:27650965 PMID:27662471 PMID:27788187 PMID:27843123 PMID:27854218 PMID:27854229 PMID:27863505 PMID:27868399 PMID:27930701 PMID:28045975 PMID:28138913 PMID:28166282 PMID:28256728 PMID:28333919 PMID:28403181 PMID:28416588 PMID:28487569 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28606400 PMID:28611029 PMID:28750076 PMID:28767663 PMID:28771489 PMID:28798025 PMID:28822653 PMID:28831623 PMID:28857138 PMID:29099038 PMID:29109008 PMID:29179779 PMID:29221435 PMID:29263846 PMID:29361395 PMID:29382405 PMID:29386531 PMID:29420653 PMID:29511324 PMID:29540445 PMID:29590070 PMID:29691892 PMID:29892087 PMID:29961767 PMID:29970176 PMID:29988065 PMID:29997562 PMID:30021846 PMID:30086531 PMID:30109841 PMID:30238059 PMID:30365001 PMID:30415094 PMID:30453078 PMID:30531895 PMID:30535219 PMID:30536954 PMID:30564623 PMID:30571272 PMID:30609409 PMID:30609410 PMID:30615648 PMID:30666435 PMID:30724488 PMID:30770808 PMID:30847666 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31028938 PMID:31127727 PMID:31215789 PMID:31395899 PMID:31481236 PMID:31489791 PMID:31514951 PMID:31539150 PMID:31589614 PMID:31660661 PMID:31795264 PMID:31847883 PMID:31931689 PMID:31980526 PMID:31983221 PMID:32039858 PMID:32160020 PMID:32235935 PMID:32246154 PMID:32277046 PMID:32403337 PMID:32528171 PMID:32746448 PMID:32778822 PMID:32880476 PMID:32934002 PMID:32964742 PMID:33106378 PMID:33297573 PMID:33432171 PMID:33449170 PMID:33552729 PMID:33692775 PMID:33874732 PMID:34135346 PMID:34137518 PMID:34540771 PMID:35207729 More...
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
G
Myot
myotilin
ISO
ClinVar Annotator: match by term: Spheroid body myopathy
OMIM ClinVar
PMID:571956 PMID:15111675 PMID:15947064 PMID:16380616 PMID:16684602 PMID:16793270 PMID:17784878 PMID:17931355 PMID:18653338 PMID:19225410 PMID:19240791 PMID:19590214 PMID:21361873 PMID:21676617 PMID:22021208 PMID:22106715 PMID:22349301 PMID:25208129 PMID:25741868 PMID:26257771 PMID:26467025 PMID:26842778 PMID:27618136 PMID:27854214 PMID:28166811 PMID:28492532 PMID:31404076 PMID:31407473 PMID:32041727 PMID:32419263 More...
NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all