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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked Emery-Dreifuss muscular dystrophy 1
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Accession:DOID:0070246 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. (DO)
Synonyms:exact_synonym: EDMD1;   EMD1;   Emery-Dreifuss muscular dystrophy 1;   X-linked scapuloperoneal syndrome;   tardive muscular dystrophy, Dreifuss-Emery type, with contractures
 primary_id: MESH:C535734
 alt_id: OMIM:310300;   RDO:0001017;   RDO:0004433
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:8554872
G Arhgap4 Rho GTPase activating protein 4 JBrowse link X 156,873,094 156,888,762 RGD:8554872
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
RGD:7240710
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Hcfc1 host cell factor C1 JBrowse link X 156,812,012 156,837,227 RGD:8554872
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 156,999,803 157,008,735 RGD:8554872
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:8554872
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:8554872
G Pdzd4 PDZ domain containing 4 JBrowse link X 156,963,343 156,993,591 RGD:8554872
G Plxnb3 plexin B3 JBrowse link X 157,015,297 157,030,147 RGD:8554872
G Renbp renin binding protein JBrowse link X 156,854,490 156,863,548 RGD:8554872
G Rpl10 ribosomal protein L10 JBrowse link X 156,438,251 156,440,461 RGD:8554872
G Srpk3 SRSF protein kinase 3 JBrowse link X 157,008,773 157,014,342 RGD:8554872
G Ssr4 signal sequence receptor subunit 4 JBrowse link X 156,995,763 156,999,702 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tex28 testis expressed 28 JBrowse link X 156,540,442 156,569,272 RGD:8554872
G Tktl1 transketolase-like 1 JBrowse link X 156,507,797 156,540,733 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      musculoskeletal system disease 5304
        Joint Diseases 1099
          Contracture 59
            X-linked Emery-Dreifuss muscular dystrophy 1 22
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        peripheral nervous system disease 2182
          neuropathy 2006
            neuromuscular disease 1578
              muscular disease 1019
                muscle tissue disease 703
                  atrophic muscular disease 283
                    muscular dystrophy 281
                      Emery-Dreifuss muscular dystrophy 35
                        X-linked Emery-Dreifuss muscular dystrophy 1 22
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.