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ONTOLOGY REPORT - ANNOTATIONS


Term:muscular atrophy
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Accession:DOID:767 term browser browse the term
Definition:Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.
Synonyms:exact_synonym: Amyotrophia;   Muscle Atrophies;   Muscle Atrophy;   Muscular Atrophies;   Neurogenic Muscular Atrophies;   Neurogenic Muscular Atrophy;   Neurotrophic Muscular Atrophies;   Neurotrophic Muscular Atrophy;   Wasting - muscle
 primary_id: MESH:D009133;   RDO:0002013
 xref: NCI:C94834
For additional species annotation, visit the Alliance of Genome Resources.


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muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:11554173
G Ampd1 adenosine monophosphate deaminase 1 JBrowse link 2 205,568,934 205,589,961 RGD:11554173
G Apaf1 apoptotic peptidase activating factor 1 JBrowse link 7 31,699,309 31,784,192 RGD:2325745
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 3 110,367,949 110,420,471 RGD:10059412
G Cfl1 cofilin 1 JBrowse link 1 220,869,805 220,873,337 RGD:11570530
G Chuk component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 1 263,848,829 263,884,354 RGD:7495773
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:11554173
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7257536
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
G Crhr2 corticotropin releasing hormone receptor 2 JBrowse link 4 85,286,371 85,329,374 RGD:5130936
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:11554173
G Ctsl cathepsin L JBrowse link 17 1,873,105 1,879,266 RGD:2315576
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:625642
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:625642
G Endog endonuclease G JBrowse link 3 8,741,833 8,744,414 RGD:9685359
G Fbxo32 F-box protein 32 JBrowse link 7 98,065,664 98,098,071 RGD:633893
RGD:11554173
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11554173
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:2307376
G Gsk3b glycogen synthase kinase 3 beta JBrowse link 11 65,060,884 65,208,842 RGD:11554173
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:10402941
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 JBrowse link 9 17,817,791 17,823,163 RGD:5686383
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:11554173
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 16 74,177,233 74,230,809 RGD:7495773
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:11554173
G Mstn myostatin JBrowse link 9 53,310,977 53,315,804 RGD:2303596
RGD:2303594
G Mt1 metallothionein 1 JBrowse link 19 11,301,991 11,303,007 RGD:11554173
G Mtmr4 myotubularin related protein 4 JBrowse link 10 74,886,600 74,909,532 RGD:7242174
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:10041027
G Nedd4 NEDD4 E3 ubiquitin protein ligase JBrowse link 8 79,323,408 79,408,842 RGD:7242174
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:4892297
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:11554173
G Relb RELB proto-oncogene, NF-kB subunit JBrowse link 1 80,517,081 80,545,019 RGD:7777164
G Rps6kb1 ribosomal protein S6 kinase B1 JBrowse link 10 73,824,200 73,865,503 RGD:1642984
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:4144861
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:625642
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:2292027
G Tgif1 TGFB-induced factor homeobox 1 JBrowse link 9 119,181,079 119,190,698 RGD:1641826
G Timm23 translocase of inner mitochondrial membrane 23 JBrowse link 16 8,324,038 8,350,067 RGD:13463487
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Tomm20 translocase of outer mitochondrial membrane 20 JBrowse link 19 59,863,421 59,873,411 RGD:13463487
G Trim63 tripartite motif containing 63 JBrowse link 5 152,533,362 152,547,138 RGD:633893
RGD:11554173
G Ttpa alpha tocopherol transfer protein JBrowse link 5 34,007,926 34,029,315 RGD:11554173
G Ucp2 uncoupling protein 2 JBrowse link 1 165,506,375 165,512,744 RGD:10045654
G Ucp3 uncoupling protein 3 JBrowse link 1 165,482,912 165,495,895 RGD:10045654
G Wwtr1 WW domain containing transcription regulator 1 JBrowse link 2 147,577,149 147,693,033 RGD:11554173
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Larp7 La ribonucleoprotein 7, transcriptional regulator JBrowse link 2 231,866,888 231,882,002 RGD:7240710
RGD:8554872
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:7240710
RGD:8554872
Facial Dysmorphism with Multiple Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:11554173
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:11554173
lethal congenital contracture syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma JBrowse link 7 11,267,207 11,294,291 RGD:7240710
RGD:8554872
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
RGD:8554872
RGD:7240710
Miyoshi muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
RGD:11554173
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
RGD:7240710
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570558
Primrose Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb20 zinc finger and BTB domain containing 20 JBrowse link 11 62,014,925 62,561,113 RGD:11554173
RGD:8554872
RGD:7240710
Sarcopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:2325745
G Ak1 adenylate kinase 1 JBrowse link 3 11,652,143 11,659,135 RGD:5147990
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:10043306
RGD:10043311
G Atp5f1a ATP synthase F1 subunit alpha JBrowse link 18 74,156,553 74,164,490 RGD:13703063
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:2325745
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:2325745
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:10045568
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:10043356
G Cebpa CCAAT/enhancer binding protein alpha JBrowse link 1 91,363,492 91,366,164 RGD:10401269
G Cebpb CCAAT/enhancer binding protein beta JBrowse link 3 164,424,502 164,425,933 RGD:10401226
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 11 84,080,273 84,090,259 RGD:10395315
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha JBrowse link 6 102,048,372 102,073,041 RGD:10395315
G Fis1 fission, mitochondrial 1 JBrowse link 12 22,750,485 22,765,324 RGD:12738219
G Foxo4 forkhead box O4 JBrowse link X 71,155,284 71,162,158 RGD:10402356
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:14746966
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10045859
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:10045859
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:12738219
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:10413861
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:12738219
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:10053649
G Supv3l1 Suv3 like RNA helicase JBrowse link 20 32,057,530 32,080,170 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Anatomical Pathological Conditions 1329
        Atrophy 92
          muscular atrophy 79
            Allan-Herndon-Dudley syndrome 1
            Arnold Stickler Bourne Syndrome 0
            Facial Dysmorphism with Multiple Malformations + 3
            Furukawa Takagi Nakao Syndrome 0
            Malignant Neurogenic Muscular Atrophy 0
            Miles-Carpenter syndrome 1
            Miyoshi muscular dystrophy + 2
            Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 0
            Nathalie Syndrome 0
            Primrose Syndrome 1
            Sarcopenia 22
            Thakker Donnai Syndrome 0
            lethal congenital contracture syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    muscular atrophy 79
                      Allan-Herndon-Dudley syndrome 1
                      Arnold Stickler Bourne Syndrome 0
                      Facial Dysmorphism with Multiple Malformations + 3
                      Furukawa Takagi Nakao Syndrome 0
                      Malignant Neurogenic Muscular Atrophy 0
                      Miles-Carpenter syndrome 1
                      Miyoshi muscular dystrophy + 2
                      Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 0
                      Nathalie Syndrome 0
                      Primrose Syndrome 1
                      Sarcopenia 22
                      Thakker Donnai Syndrome 0
                      lethal congenital contracture syndrome 3 1
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.