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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:myopathy
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Accession:MP:0000751 term browser browse the term
Definition:any abnormal condition or disease of the skeletal muscle
Synonyms:xref: EFO:0004145


show annotations for term's descendants           Sort by:
myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agrn agrin IEA MGI NCBI chr 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945 		JBrowse link
G Ank1 ankyrin 1, erythroid IAGP MGI PMID:25354526 NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513 		JBrowse link
G Apobec2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2 IAGP MGI PMID:20022958 NCBI chr17:48,726,259...48,739,756
Ensembl chr17:48,726,259...48,739,958 		JBrowse link
G Ar androgen receptor IAGP MGI PMID:16981011 NCBI chr  X:97,192,363...97,366,824
Ensembl chr  X:97,192,375...97,366,821 		JBrowse link
G Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit IAGP MGI PMID:23187123 NCBI chr 1:135,980,549...136,047,268
Ensembl chr 1:135,980,488...136,047,560 		JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase IAGP MGI PMID:26247364 NCBI chr17:85,397,989...85,766,017
Ensembl chr17:85,397,980...85,766,016 		JBrowse link
G Cav3 caveolin 3 IAGP MGI PMID:11259414 NCBI chr 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833 		JBrowse link
G Col13a1 collagen, type XIII, alpha 1 IAGP MGI PMID:11583983 NCBI chr10:61,674,013...61,814,985
Ensembl chr10:61,674,015...61,814,887 		JBrowse link
G Col15a1 collagen, type XV, alpha 1 IAGP MGI PMID:11158616 NCBI chr 4:47,207,744...47,313,165
Ensembl chr 4:47,208,161...47,313,167 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 IAGP MGI PMID:21625620 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Col6a1 collagen, type VI, alpha 1 IAGP MGI PMID:9817932 NCBI chr10:76,544,626...76,561,878
Ensembl chr10:76,544,626...76,562,002 		JBrowse link
G Col6a3 collagen, type VI, alpha 3 IAGP MGI PMID:23564457 PMID:24563484 NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693 		JBrowse link
G Comp cartilage oligomeric matrix protein IAGP MGI PMID:19808781 NCBI chr 8:70,826,186...70,834,721
Ensembl chr 8:70,826,208...70,834,716 		JBrowse link
G Coq9 coenzyme Q9 IAGP MGI PMID:23255162 NCBI chr 8:95,565,041...95,581,523
Ensembl chr 8:95,564,949...95,581,523 		JBrowse link
G Cox10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 10 IAGP MGI PMID:16103131 NCBI chr11:63,853,453...63,970,298
Ensembl chr11:63,853,453...63,970,294 		JBrowse link
G Cox15 cytochrome c oxidase assembly protein 15 IAGP MGI PMID:21723506 NCBI chr19:43,721,693...43,741,439
Ensembl chr19:43,721,693...43,741,439 		JBrowse link
G Cryab crystallin, alpha B IAGP MGI PMID:21445271 NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		JBrowse link
G Csrp3 cysteine and glycine-rich protein 3 IAGP MGI PMID:20044516 NCBI chr 7:48,480,146...48,497,799
Ensembl chr 7:48,480,146...48,497,781 		JBrowse link
G Des desmin IAGP MGI PMID:25394388 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dmd dystrophin, muscular dystrophy IAGP MGI PMID:6583703 PMID:9284044 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Dmpk dystrophia myotonica-protein kinase IAGP MGI PMID:8673132 NCBI chr 7:18,817,571...18,827,746
Ensembl chr 7:18,817,774...18,827,746 		JBrowse link
G Dnm2 dynamin 2 IAGP MGI PMID:32129442 NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055 		JBrowse link
G Fgf6 fibroblast growth factor 6 IAGP MGI PMID:9284044 NCBI chr 6:126,992,505...127,001,681
Ensembl chr 6:126,992,549...127,005,150 		JBrowse link
G Fhl1 four and a half LIM domains 1 IAGP MGI PMID:25274776 NCBI chr  X:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706 		JBrowse link
G Fkrp fukutin related protein IAGP MGI PMID:26574668 NCBI chr 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657 		JBrowse link
G Gaa glucosidase, alpha, acid IAGP MGI PMID:10838256 NCBI chr11:119,158,789...119,176,284
Ensembl chr11:119,158,713...119,176,280 		JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 IAGP MGI PMID:29905857 NCBI chr 6:87,019,828...87,069,189
Ensembl chr 6:87,019,828...87,069,179 		JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A IAGP MGI PMID:33755596 NCBI chr 1:75,412,555...75,419,823
Ensembl chr 1:75,412,574...75,419,823 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:17418413 PMID:23410975 PMID:29415061 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294 		JBrowse link
G Hspb7 heat shock protein family, member 7 (cardiovascular) IAGP MGI PMID:26929074 NCBI chr 4:141,148,090...141,152,621
Ensembl chr 4:141,148,090...141,152,622 		JBrowse link
G Hspb8 heat shock protein 8 IAGP MGI PMID:28780615 NCBI chr 5:116,546,550...116,560,923
Ensembl chr 5:116,546,550...116,560,923 		JBrowse link
G Itga7 integrin alpha 7 IAGP MGI PMID:16003770 PMID:22798625 NCBI chr10:128,769,633...128,794,155
Ensembl chr10:128,769,645...128,794,155 		JBrowse link
G Klhl31 kelch-like 31 IAGP MGI PMID:28872460 NCBI chr 9:77,544,014...77,567,407
Ensembl chr 9:77,543,782...77,567,409 		JBrowse link
G Klhl40 kelch-like 40 IAGP MGI PMID:24960163 NCBI chr 9:121,606,673...121,612,885
Ensembl chr 9:121,606,673...121,612,884 		JBrowse link
G Klhl41 kelch-like 41 IAGP MGI PMID:28826497 NCBI chr 2:69,500,464...69,514,583
Ensembl chr 2:69,500,464...69,514,574 		JBrowse link
G Lama2 laminin, alpha 2 IAGP MGI PMID:9326364 PMID:18430779 NCBI chr10:26,857,281...27,493,021
Ensembl chr10:26,856,032...27,495,754 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 IAGP MGI PMID:939913 NCBI chr 8:73,541,227...74,080,164
Ensembl chr 8:73,541,227...74,080,168 		JBrowse link
G Ldb3 LIM domain binding 3 IAGP MGI PMID:11696561 PMID:12499364 NCBI chr14:34,248,656...34,312,276
Ensembl chr14:34,248,560...34,310,639 		JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial IAGP MGI PMID:18276892 NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Rnr2 16S rRNA, mitochondrial IAGP MGI PMID:11106380 NCBI chr MT:1,094...2,675
Ensembl chr MT:1,094...2,675 		JBrowse link
G Mtm1 X-linked myotubular myopathy gene 1 IAGP MGI PMID:12391329 PMID:23109424 NCBI chr  X:70,254,373...70,359,019
Ensembl chr  X:70,254,373...70,359,297 		JBrowse link
G Myf5 myogenic factor 5 IAGP MGI PMID:23410975 NCBI chr10:107,318,769...107,322,787
Ensembl chr10:107,318,769...107,321,995 		JBrowse link
G Myf6 myogenic factor 6 IAGP MGI PMID:17418413 NCBI chr10:107,328,709...107,330,584
Ensembl chr10:107,328,714...107,330,598 		JBrowse link
G Myl1 myosin, light polypeptide 1 IAGP MGI PMID:16103131 NCBI chr 1:66,963,454...66,987,091
Ensembl chr 1:66,963,454...66,984,563 		JBrowse link
G Mypn myopalladin IAGP MGI PMID:28017374 NCBI chr10:62,951,574...63,039,731
Ensembl chr10:62,951,574...63,039,731 		JBrowse link
G Notch3 notch 3 IEA MGI NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP MGI PMID:19584095 NCBI chr11:58,885,082...59,027,201
Ensembl chr11:58,885,082...59,029,996 		JBrowse link
G Pax7 paired box 7 IAGP MGI PMID:23410975 NCBI chr 4:139,464,357...139,560,841
Ensembl chr 4:139,464,373...139,560,839 		JBrowse link
G Pdss2 prenyl (solanesyl) diphosphate synthase, subunit 2 IAGP MGI PMID:23150520 NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878 		JBrowse link
G Pik3r4 phosphoinositide-3-kinase regulatory subunit 4 IAGP MGI PMID:23630012 NCBI chr 9:105,520,156...105,564,854
Ensembl chr 9:105,520,177...105,564,856 		JBrowse link
G Plau plasminogen activator, urokinase IAGP MGI PMID:11760891 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		JBrowse link
G Plec plectin IAGP MGI PMID:9389647 NCBI chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 IAGP MGI PMID:28175314 NCBI chr11:86,574,900...86,583,283
Ensembl chr11:86,574,811...86,583,283 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle IAGP MGI PMID:19959667 PMID:25564733 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Samd4 sterile alpha motif domain containing 4 IAGP MGI PMID:24799716 NCBI chr14:47,120,414...47,343,274
Ensembl chr14:47,120,311...47,343,272 		JBrowse link
G Scn4a sodium channel, voltage-gated, type IV, alpha IAGP MGI PMID:18317596 NCBI chr11:106,208,374...106,256,385
Ensembl chr11:106,209,418...106,244,114 		JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha IEA MGI NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		JBrowse link
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 IAGP MGI PMID:9207786 NCBI chr 8:46,660,205...46,664,099
Ensembl chr 8:46,659,834...46,664,321 		JBrowse link
G Sspn sarcospan IAGP MGI PMID:22798625 NCBI chr 6:145,860,423...145,910,951
Ensembl chr 6:145,877,367...145,910,949 		JBrowse link
G Stim1 stromal interaction molecule 1 IAGP MGI PMID:31666234 NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526 		JBrowse link
G Stmn1 stathmin 1 IAGP MGI PMID:11839567 NCBI chr 4:134,195,631...134,201,154
Ensembl chr 4:134,195,631...134,201,154 		JBrowse link
G Synm synemin, intermediate filament protein IAGP MGI PMID:25179606 NCBI chr 7:67,379,909...67,409,490
Ensembl chr 7:67,379,908...67,409,490 		JBrowse link
G Tcap titin-cap IAGP MGI PMID:20233748 NCBI chr11:98,274,637...98,275,779
Ensembl chr11:98,274,637...98,275,779 		JBrowse link
G Tpp1 tripeptidyl peptidase I IEA MGI NCBI chr 7:105,394,018...105,401,489
Ensembl chr 7:105,394,018...105,401,442 		JBrowse link
G Trim32 tripartite motif-containing 32 IAGP MGI PMID:19155210 PMID:22299041 NCBI chr 4:65,523,223...65,534,477
Ensembl chr 4:65,523,223...65,534,475 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16532
    muscle phenotype 1918
      abnormal muscle physiology 1212
        myopathy 65
paths to the root