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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myopathy
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Accession:DOID:0080100 term browser browse the term
Synonyms:primary_id: RDO:9003969
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:8554872
G Ank2 ankyrin 2 JBrowse link 2 231,224,643 231,522,655 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:13592920
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
autosomal dominant hyaline body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
RGD:12792959
autosomal recessive hyaline body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
Brody myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 JBrowse link 1 197,855,912 197,875,038 RGD:734618
RGD:8554872
RGD:7240710
G Atxn2l ataxin 2-like JBrowse link 1 197,908,087 197,920,400 RGD:8554872
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 JBrowse link 1 197,839,583 197,855,953 RGD:8554872
G Sh2b1 SH2B adaptor protein 1 JBrowse link 1 197,878,839 197,888,223 RGD:8554872
G Tufm Tu translation elongation factor, mitochondrial JBrowse link 1 197,903,582 197,907,189 RGD:8554872
centronuclear myopathy 6 with fiber-type disproportion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map3k20 mitogen-activated protein kinase kinase kinase 20 JBrowse link 3 58,965,025 59,120,507 RGD:8554872
RGD:7240710
Compton-North congenital myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntn1 contactin 1 JBrowse link 7 133,290,606 133,588,314 RGD:7240710
RGD:8554872
congenital fiber-type disproportion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:8554872
RGD:13592920
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:13592920
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:13592920
RGD:8554872
G Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:13592920
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:13592920
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:8554872
RGD:13592920
Congenital Myopathy with Excess of Muscle Spindles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myl1 myosin, light chain 1 JBrowse link 9 73,937,820 73,958,480 RGD:7240710
RGD:8554872
Congenital Myopathy, with Fiber-Type Disproportion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:7240710
RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:7240710
RGD:8554872
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:7240710
RGD:8554872
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf10 multiple EGF-like domains 10 JBrowse link 18 52,215,652 52,366,212 RGD:7240710
RGD:8554872
hyaline body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
MYOPATHY, CONGENITAL, WITH TREMOR term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:8554872
RGD:7240710
myotonia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn1 chloride voltage-gated channel 1 JBrowse link 4 71,674,218 71,704,318 RGD:704389
RGD:8554872
RGD:11554173
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:11554173
RGD:8554872
Myotonia Congenita, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn1 chloride voltage-gated channel 1 JBrowse link 4 71,674,218 71,704,318 RGD:7240710
RGD:8554872
Myotonia Congenita, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn1 chloride voltage-gated channel 1 JBrowse link 4 71,674,218 71,704,318 RGD:8554872
RGD:7240710
Native American myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stac3 SH3 and cysteine rich domain 3 JBrowse link 7 70,807,427 70,815,271 RGD:7240710
RGD:8554872
Potassium Aggravated Myotonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
RGD:11554173
RGD:13208523
Progressive Congenital Myopathy with Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax7 paired box 7 JBrowse link 5 158,211,001 158,313,510 RGD:8554872
RGD:7240710
tubular aggregate myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Orai1 ORAI calcium release-activated calcium modulator 1 JBrowse link 12 38,981,903 38,995,570 RGD:8554872
RGD:7240710
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        muscular disease 968
          myopathy 556
            congenital myopathy 29
              Compton-North congenital myopathy 1
              Congenital Myopathy with Excess of Muscle Spindles 2
              Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy 1
              MYOPATHY, CONGENITAL, WITH TREMOR 1
              Progressive Congenital Myopathy with Scoliosis 1
              congenital fiber-type disproportion + 7
              cylindrical spirals myopathy 0
              early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
              hyaline body myopathy + 2
              myotonia congenita + 8
              tubular aggregate myopathy 3
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    congenital myopathy 29
                      Compton-North congenital myopathy 1
                      Congenital Myopathy with Excess of Muscle Spindles 2
                      Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy 1
                      MYOPATHY, CONGENITAL, WITH TREMOR 1
                      Progressive Congenital Myopathy with Scoliosis 1
                      congenital fiber-type disproportion + 7
                      cylindrical spirals myopathy 0
                      early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
                      hyaline body myopathy + 2
                      myotonia congenita + 8
                      tubular aggregate myopathy 3
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.