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 1
Accession: DOID:0080092
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Definition: A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. (DO)
Synonyms: exact_synonym: ARVC7; ARVD7; DESMIN-related myofibrillar myopathy; DESMINOPATHY, PRIMARY; DRM; Desmin-Related Myopathy; Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy; IBM1; MFM1; arrhythmogenic right ventricular cardiomyopathy 7; arrhythmogenic right ventricular dysplasia, familial, 7; autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency; autosomal recessive limb-girdle muscular dystrophy type 2R; desminopathy; dilated cardiomyopathy 1F; inclusion body myopathy 1, autosomal dominant; myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy
narrow_synonym: PROXIMAL MUSCLE WEAKNESS IN UPPER LIMBS
related_synonym: CDCD3; CMD1F and LGMD1D; DESMIN-MYOPATHY; DESMIN-MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; LGMD2R; dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D; dilated cardiomyopathy with conduction defect and muscular dystrophy; limb-girdle muscular dystrophy, type 2R
primary_id: OMIM:601419
alt_id: DOID:0110286; MESH:C563319 ; MESH:C563784
xref: ORDO:363543 ; ORDO:98909
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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 9:76,688,194...76,695,162
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...76,688,050
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 9:75,945,960...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 ISS
protein:altered expression:cardiomyocyte: CTD Direct Evidence: marker/mechanism OMIM:601419 ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1
OMIM CTD MouseDO ClinVar 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:16376610 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:17576681 PMID:17626518 PMID:17720647 PMID:18061454 PMID:18414213 PMID:18504128 PMID:18539904 PMID:18563598 PMID:18653338 PMID:18765652 PMID:19005210 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:23032110 PMID:23051780 PMID:23143191 PMID:23155419 PMID:23168288 PMID:23299917 PMID:23300193 PMID:23349452 PMID:23396983 PMID:23425003 PMID:23575897 PMID:23639843 PMID:23687351 PMID:23785128 PMID:23806086 PMID:23815709 PMID:23861362 PMID:24033266 PMID:24088041 PMID:24200904 PMID:24503780 PMID:25163546 PMID:25171807 PMID:25179549 PMID:25208129 PMID:25214167 PMID:25333361 PMID:25394388 PMID:25541946 PMID:25557463 PMID:25590979 PMID:25617006 PMID:25640679 PMID:25736269 PMID:25741868 PMID:25928149 PMID:26097489 PMID:26265630 PMID:26272908 PMID:26342832 PMID:26431784 PMID:26467025 PMID:26633545 PMID:26676851 PMID:26724190 PMID:26789769 PMID:27085366 PMID:27393313 PMID:27532257 PMID:27561770 PMID:27618136 PMID:27697855 PMID:27733623 PMID:27810088 PMID:27854218 PMID:27896284 PMID:27930701 PMID:28074886 PMID:28171858 PMID:28256728 PMID:28341588 PMID:28403181 PMID:28416588 PMID:28427417 PMID:28470624 PMID:28492532 PMID:28566242 PMID:28588093 PMID:28611029 PMID:28703267 PMID:28798025 PMID:29034897 PMID:29212896 PMID:29247119 PMID:29382405 PMID:29386531 PMID:29447731 PMID:29892087 PMID:29915097 PMID:29915714 PMID:29926427 PMID:29997562 PMID:30023281 PMID:30055862 PMID:30062237 PMID:30190612 PMID:30262925 PMID:30323756 PMID:30403391 PMID:30531895 PMID:30614851 PMID:30615648 PMID:30677492 PMID:30755392 PMID:30764827 PMID:30847666 PMID:30975432 PMID:31019283 PMID:31371504 PMID:31609036 PMID:31718026 PMID:31835587 PMID:31912959 PMID:31953240 PMID:31983221 PMID:31998224 PMID:32093415 PMID:32105824 PMID:32142595 PMID:32150461 PMID:32235386 PMID:32397162 PMID:32403337 PMID:32528171 PMID:32682410 PMID:32746448 PMID:32880476 PMID:33023321 PMID:33041974 PMID:33290826 PMID:33373648 PMID:33500567 PMID:33505848 PMID:33546848 PMID:33652119 PMID:33662488 PMID:33673806 PMID:33823640 PMID:33825342 PMID:33874732 PMID:34011823 PMID:34315782 PMID:34426522 PMID:34495297 PMID:34712946 PMID:34935411 PMID:35284542 PMID:35470680 PMID:35626289 PMID:35958417 PMID:36264615 PMID:36497166 PMID:36555543 PMID:36792195 PMID:37652022 PMID:38314304 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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Sftpc
surfactant protein C
ISO
ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs
ClinVar
PMID:25741868
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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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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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:23975875 PMID:25589632 PMID:25741868 PMID:28492532
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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