ONTOLOGY REPORT - ANNOTATIONS


Term:myofibrillar myopathy 1
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Accession:DOID:0080092 term browser browse the term
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;   Arrhythmogenic Right Ventricular Dysplasia, Familial, 7;   CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D;   CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT AND MUSCULAR DYSTROPHY;   CDCD3;   CMD1F AND LGMD1D;   DESMINOPATHY, PRIMARY;   DRM;   Desmin-Related Myopathy;   Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy;   IBM1;   INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT;   LGMD2R;   MFM1;   arrhythmogenic right ventricular cardiomyopathy 7;   autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency;   autosomal recessive limb-girdle muscular dystrophy type 2R;   desminopathy;   limb-girdle muscular dystrophy, type 2R;   myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy;   myofibrillar myopathy, DESMIN-related
 related_synonym: DESMIN-MYOPATHY;   DESMIN-MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY
 primary_id: MESH:C563319;   MESH:C563784
 alt_id: DOID:0110286;   OMIM:601419;   RDO:0008816;   RDO:0012610;   RDO:0012953;   RDO:9000902
 xref: ORDO:363543
For additional species annotation, visit the Alliance of Genome Resources.


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myofibrillar myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:8554872
G Ankzf1 ankyrin repeat and zinc finger domain containing 1 JBrowse link 9 82,393,619 82,400,537 RGD:8554872
G Atg9a autophagy related 9A JBrowse link 9 82,382,800 82,393,429 RGD:8554872
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
G Catip ciliogenesis associated TTC17 interacting protein JBrowse link 9 81,644,239 81,652,045 RGD:8554872
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 JBrowse link 9 82,120,059 82,121,527 RGD:8554872
G Cfap65 cilia and flagella associated protein 65 JBrowse link 9 82,163,016 82,197,909 RGD:8554872
G Cnot9 CCR4-NOT transcription complex subunit 9 JBrowse link 9 81,783,349 81,808,815 RGD:8554872
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 JBrowse link 9 82,338,865 82,345,262 RGD:8554872
G Cryba2 crystallin, beta A2 JBrowse link 9 82,151,056 82,154,266 RGD:8554872
G Ctdsp1 CTD small phosphatase 1 JBrowse link 9 81,672,613 81,677,979 RGD:8554872
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:7240710
RGD:8554872
RGD:11554173
RGD:13542086
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:8554872
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:8554872
G Dnpep aspartyl aminopeptidase JBrowse link 9 82,505,529 82,514,399 RGD:8554872
G Fev FEV transcription factor, ETS family member JBrowse link 9 82,142,981 82,146,855 RGD:8554872
G Glb1l galactosidase, beta 1-like JBrowse link 9 82,400,457 82,410,970 RGD:8554872
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:13592920
G Mir26b microRNA 26b JBrowse link 9 81,675,275 81,675,359 RGD:8554872
G Mir375 microRNA 375 JBrowse link 9 82,161,716 82,161,790 RGD:8554872
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:8554872
G Plcd4 phospholipase C, delta 4 JBrowse link 9 81,816,395 81,844,364 RGD:8554872
G Pnkd PNKD metallo-beta-lactamase domain containing JBrowse link 9 81,566,074 81,634,531 RGD:8554872
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 JBrowse link 9 81,999,368 82,008,620 RGD:8554872
G Ptprn protein tyrosine phosphatase, receptor type, N JBrowse link 9 82,446,626 82,462,314 RGD:8554872
G Resp18 regulated endocrine-specific protein 18 JBrowse link 9 82,470,794 82,477,136 RGD:8554872
G Retreg2 reticulophagy regulator family member 2 JBrowse link 9 82,345,686 82,351,800 RGD:8554872
G Rnf25 ring finger protein 25 JBrowse link 9 81,873,293 81,880,172 RGD:8554872
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:8554872
G Slc23a3 solute carrier family 23, member 3 JBrowse link 9 82,328,007 82,338,576 RGD:8554872
G Stk16 serine/threonine kinase 16 JBrowse link 9 82,411,010 82,414,249 RGD:8554872
G Stk36 serine/threonine kinase 36 JBrowse link 9 81,880,175 81,908,014 RGD:8554872
G Tmbim1 transmembrane BAX inhibitor motif containing 1 JBrowse link 9 81,569,289 81,586,469 RGD:8554872
G Ttll4 tubulin tyrosine ligase like 4 JBrowse link 9 81,925,363 81,961,882 RGD:8554872
G Tuba4a tubulin, alpha 4A JBrowse link 9 82,415,599 82,419,918 RGD:8554872
G Usp37 ubiquitin specific peptidase 37 JBrowse link 9 81,717,626 81,818,421 RGD:8554872
G Vil1 villin 1 JBrowse link 9 81,689,802 81,717,623 RGD:8554872
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
G Wnt6 Wnt family member 6 JBrowse link 9 82,033,543 82,047,172 RGD:8554872
G Zfand2b zinc finger AN1-type containing 2B JBrowse link 9 82,370,887 82,373,843 RGD:8554872
G Zfp142 zinc finger protein 142 JBrowse link 9 81,844,138 81,868,086 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      congenital heart disease 729
        arrhythmogenic right ventricular cardiomyopathy 86
          myofibrillar myopathy 1 43
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    muscular dystrophy 242
                      limb-girdle muscular dystrophy 115
                        autosomal recessive limb-girdle muscular dystrophy 99
                          myofibrillar myopathy 1 43
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.