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ONTOLOGY REPORT - ANNOTATIONS


Term:Muscle Weakness
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Accession:DOID:9005532 term browser browse the term
Definition:A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Synonyms:exact_synonym: Muscle Weaknesses;   Muscular Weakness;   Muscular Weaknesses
 primary_id: MESH:D018908;   RDO:0002465
For additional species annotation, visit the Alliance of Genome Resources.


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Muscle Weakness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ampd1 adenosine monophosphate deaminase 1 JBrowse link 2 205,568,934 205,589,961 RGD:11554173
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:8554872
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:11554173
RGD:8554872
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:8554872
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Gyg1 glycogenin 1 JBrowse link 2 104,916,734 104,958,219 RGD:11554173
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:11554173
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:11554173
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
G Slc12a3 solute carrier family 12 member 3 JBrowse link 19 11,106,033 11,144,674 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Syt2 synaptotagmin 2 JBrowse link 13 51,569,248 51,577,824 RGD:8554872
G Tbcd tubulin folding cofactor D JBrowse link 10 110,643,693 110,800,493 RGD:11554173
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:5130943
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:11554173
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trdn triadin JBrowse link 1 25,403,390 25,787,664 RGD:7240710
RGD:8554872
coenzyme Q10 deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abi1 abl-interactor 1 JBrowse link 17 89,951,662 90,033,334 RGD:8554872
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Ciapin1 cytokine induced apoptosis inhibitor 1 JBrowse link 19 10,596,923 10,612,414 RGD:8554872
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Coq9 coenzyme Q9 JBrowse link 19 10,583,855 10,596,848 RGD:13592920
RGD:8554872
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:8554872
G Pdss2 decaprenyl diphosphate synthase subunit 2 JBrowse link 20 47,966,513 48,192,747 RGD:13592920
RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:7240710
RGD:8554872
G Bard1 BRCA1 associated RING domain 1 JBrowse link 9 78,297,723 78,368,777 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Nxpe3 neurexophilin and PC-esterase domain family, member 3 JBrowse link 11 47,188,332 47,238,372 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:8554872
Myopathy with Extrapyramidal Signs term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Micu1 mitochondrial calcium uptake 1 JBrowse link 20 29,284,833 29,433,617 RGD:8554872
RGD:7240710
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 JBrowse link 3 147,793,014 147,809,941 RGD:8554872
RGD:7240710
POLYGLUCOSAN BODY MYOPATHY 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gyg1 glycogenin 1 JBrowse link 2 104,916,734 104,958,219 RGD:8554872
RGD:7240710
primary coenzyme Q10 deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:7240710
RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:11554173
RGD:8554872
primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdss2 decaprenyl diphosphate synthase subunit 2 JBrowse link 20 47,966,513 48,192,747 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42bpa CDC42 binding protein kinase alpha JBrowse link 13 98,231,326 98,447,762 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq9 coenzyme Q9 JBrowse link 19 10,583,855 10,596,848 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq6 coenzyme Q6 monooxygenase JBrowse link 6 108,076,393 108,087,782 RGD:7240710
RGD:8554872
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 JBrowse link 6 108,087,677 108,123,811 RGD:8554872
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cercam cerebral endothelial cell adhesion molecule JBrowse link 3 8,421,116 8,444,743 RGD:8554872
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Coq4 coenzyme Q4 JBrowse link 3 8,349,386 8,357,719 RGD:7240710
RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:8554872
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:8554872
G Golga2 golgin A2 JBrowse link 3 11,317,328 11,337,569 RGD:8554872
G Lcn2 lipocalin 2 JBrowse link 3 11,414,189 11,417,534 RGD:8554872
G Mir2964 microRNA 2964 JBrowse link 3 8,407,427 8,407,526 RGD:8554872
G Odf2 outer dense fiber of sperm tails 2 JBrowse link 3 8,449,733 8,495,764 RGD:8554872
G RGD1561113 similar to Hypothetical UPF0184 protein C9orf16 homolog JBrowse link 3 11,408,076 11,410,907 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Slc19a3 solute carrier family 19 member 3 JBrowse link 9 88,762,775 88,828,553 RGD:8554872
G Slc27a4 solute carrier family 27 member 4 JBrowse link 3 8,363,937 8,376,858 RGD:8554872
G Swi5 SWI5 homologous recombination repair protein JBrowse link 3 11,307,981 11,317,049 RGD:8554872
G Trub2 TruB pseudouridine synthase family member 2 JBrowse link 3 8,338,479 8,348,746 RGD:8554872
G Urm1 ubiquitin related modifier 1 JBrowse link 3 8,389,024 8,405,868 RGD:8554872
primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq7 coenzyme Q7, hydroxylase JBrowse link 1 188,176,060 188,190,874 RGD:8554872
RGD:7240710
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Pathological Conditions, Signs and Symptoms 7254
      Pathologic Processes 4755
        Muscle Weakness 78
          Camera Marugo Cohen Syndrome 0
          Episodic Muscle Weakness, X-Linked 0
          Mitochondrial Complex I Deficiency, Nuclear Type 20 9
          Myopathy with Extrapyramidal Signs 1
          POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 1
          POLYGLUCOSAN BODY MYOPATHY 2 1
          catecholaminergic polymorphic ventricular tachycardia 5 1
          coenzyme Q10 deficiency disease + 28
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                Muscle Weakness 78
                  Camera Marugo Cohen Syndrome 0
                  Episodic Muscle Weakness, X-Linked 0
                  Mitochondrial Complex I Deficiency, Nuclear Type 20 9
                  Myopathy with Extrapyramidal Signs 1
                  POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 1
                  POLYGLUCOSAN BODY MYOPATHY 2 1
                  catecholaminergic polymorphic ventricular tachycardia 5 1
                  coenzyme Q10 deficiency disease + 28
paths to the root