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ONTOLOGY REPORT - ANNOTATIONS


Term:muscle tissue disease
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Accession:DOID:66 term browser browse the term
Synonyms:primary_id: RDO:9003114
For additional species annotation, visit the Alliance of Genome Resources.


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muscle tissue disease 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 Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 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 Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:8554872
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:8554872
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lpin1 lipin 1 JBrowse link 6 41,796,214 41,905,149 RGD:7240710
RGD:8554872
Aggressive Fibromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:11554173
G Ccn2 cellular communication network factor 2 JBrowse link 1 21,851,657 21,854,773 RGD:2314525
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208596
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 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
Alcohol 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:1581765
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
alveolar rhabdomyosarcoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:8554872
G Foxo1 forkhead box O1 JBrowse link 2 141,451,234 141,527,016 RGD:7240710
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:1580944
RGD:8554872
RGD:7240710
G Pax7 paired box 7 JBrowse link 5 158,211,001 158,313,510 RGD:7240710
G Tp73 tumor protein p73 JBrowse link 5 171,355,876 171,415,354 RGD:11554173
alveolar soft part sarcoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing JBrowse link 10 109,851,407 109,889,339 RGD:7240710
Amyopathic Dermatomyositis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147790
RGD:8547569
RGD:5147796
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Matr3 matrin 3 JBrowse link 18 28,351,691 28,390,764 RGD:7240710
RGD:8554872
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
autosomal dominant centronuclear 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
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710
RGD:2306094
RGD:12791273
RGD:11062274
RGD:12791020
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:8554872
RGD:7240710
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syne2 spectrin repeat containing nuclear envelope protein 2 JBrowse link 6 98,884,269 99,153,551 RGD:8554872
RGD:7240710
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:7240710
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 dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:7240710
RGD:8554872
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnpo3 transportin 3 JBrowse link 4 56,820,023 56,897,310 RGD:7240710
RGD:8554872
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like JBrowse link 14 11,199,114 11,204,670 RGD:7240710
RGD:8554872
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:7240710
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:7240710
RGD:8554872
autosomal recessive centronuclear myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:8554872
RGD:11554173
G Speg striated muscle enriched protein kinase JBrowse link 9 82,571,333 82,628,684 RGD:11554173
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710
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
autosomal recessive limb-girdle 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 Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:11532762
RGD:8554872
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Uck1 uridine-cytidine kinase 1 JBrowse link 3 11,271,874 11,277,757 RGD:8554872
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:734687
RGD:8554872
RGD:7240710
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:7240710
RGD:8554872
RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13210781
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:7240710
RGD:8554872
RGD:13605619
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11073211
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:7240710
RGD:8554872
RGD:13605612
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:7240710
RGD:8554872
RGD:13605613
RGD:13605614
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:7240710
RGD:8554872
RGD:11554173
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:1598944
RGD:8554872
RGD:11063285
RGD:11667967
RGD:11667966
RGD:11667965
RGD:11667964
RGD:11667963
RGD:11667961
RGD:7240710
G Strn4 striatin 4 JBrowse link 1 78,739,930 78,765,696 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2L 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:11570561
RGD:11570558
RGD:11066746
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:11576328
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:7240710
RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trappc11 trafficking protein particle complex 11 JBrowse link 16 47,874,993 47,920,822 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr17 G protein-coupled receptor 17 JBrowse link 18 24,733,306 24,739,194 RGD:8554872
G Lims2 LIM zinc finger domain containing 2 JBrowse link 18 24,707,951 24,746,159 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bves blood vessel epicardial substance JBrowse link 20 50,439,885 50,474,678 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1aip1 torsin 1A interacting protein 1 JBrowse link 13 73,670,649 73,704,668 RGD:8554872
RGD:7240710
G Tor1aip2 torsin 1A interacting protein 2 JBrowse link 13 73,704,088 73,735,339 RGD:8554872
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh1 ribonuclease H1 JBrowse link 6 47,916,188 47,925,582 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
RGD:7240710
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Becker muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
RGD:7240710
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
Beta-sarcoglycanopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
Bethlem myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col12a1 collagen type XII alpha 1 chain JBrowse link 8 87,042,820 87,150,701 RGD:11554173
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
RGD:11554173
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
RGD:11554173
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
RGD:11554173
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
Bethlem Myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ackr3 atypical chemokine receptor 3 JBrowse link 9 97,355,881 97,367,455 RGD:8554872
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:1600934
RGD:8554872
RGD:7240710
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:1600934
RGD:8554872
RGD:7240710
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:7240710
RGD:8554872
G Cops8 COP9 signalosome subunit 8 JBrowse link 9 97,772,224 97,782,055 RGD:8554872
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
Bethlem Myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col12a1 collagen type XII alpha 1 chain JBrowse link 8 87,042,820 87,150,701 RGD:8554872
RGD:7240710
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
Carney Triad term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
central core myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:7240710
RGD:8554872
RGD:11554173
centronuclear 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
RGD:13592920
G Klhl31 kelch-like family member 31 JBrowse link 8 84,945,444 84,968,811 RGD:13592920
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:8554872
RGD:13592920
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:13592920
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
centronuclear myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:8554872
G Mtmr14 myotubularin related protein 14 JBrowse link 4 145,195,046 145,238,097 RGD:7240710
RGD:8554872
G Myf6 myogenic factor 6 JBrowse link 7 49,739,643 49,741,490 RGD:8554872
G Otogl otogelin-like JBrowse link 7 51,768,469 51,935,442 RGD:8554872
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A JBrowse link 7 51,404,971 51,515,382 RGD:8554872
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 RGD:8554872
centronuclear myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:7240710
centronuclear myopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc78 coiled-coil domain containing 78 JBrowse link 10 15,155,839 15,160,039 RGD:7240710
RGD:8554872
centronuclear myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Speg striated muscle enriched protein kinase JBrowse link 9 82,571,333 82,628,684 RGD:7240710
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
centronuclear myopathy X-linked 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 Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:7240710
RGD:8554872
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:737726
RGD:11554173
RGD:8694204
RGD:8694183
RGD:8694170
RGD:8694163
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580622
RGD:8554872
RGD:1580620
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:1600544
RGD:8554872
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 6 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:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:7240710
RGD:8554872
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 Contractural Arachnodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:1300364
RGD:8554872
RGD:7240710
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory JBrowse link 2 188,583,664 188,584,179 RGD:8554872
RGD:7240710
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 merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:5688132
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:7240710
RGD:8554872
RGD:13605609
congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
RGD:13592920
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
G Fkbp14 FKBP prolyl isomerase 14 JBrowse link 4 84,753,628 84,768,314 RGD:8554872
G Itga7 integrin subunit alpha 7 JBrowse link 7 3,355,079 3,383,886 RGD:8554872
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
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 Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
congenital muscular dystrophy due to integrin alpha-7 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
G Itga7 integrin subunit alpha 7 JBrowse link 7 3,355,079 3,383,886 RGD:7240710
RGD:8554872
RGD:13601979
congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:7240710
RGD:8554872
RGD:12791283
Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inpp5k inositol polyphosphate-5-phosphatase K JBrowse link 10 63,775,639 63,796,879 RGD:8554872
RGD:7240710
Congenital Muscular Dystrophy, Davignon-Chauveau Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip4 thyroid hormone receptor interactor 4 JBrowse link 8 71,369,121 71,533,281 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankmy2 ankyrin repeat and MYND domain containing 2 JBrowse link 6 55,646,905 55,689,223 RGD:8554872
G Bzw2 basic leucine zipper and W2 domains 2 JBrowse link 6 55,586,754 55,647,650 RGD:8554872
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:7240710
RGD:8554872
G Lrrc72 leucine rich repeat containing 72 JBrowse link 6 55,694,269 55,757,234 RGD:8554872
G Sostdc1 sclerostin domain containing 1 JBrowse link 6 55,812,820 55,816,994 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
RGD:13592920
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
RGD:13592920
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:13592920
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
RGD:7240710
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:13592920
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rxylt1 ribitol xylosyltransferase 1 JBrowse link 7 64,329,341 64,341,201 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:7240710
RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fnta farnesyltransferase, CAAX box, alpha JBrowse link 16 70,834,957 70,854,724 RGD:8554872
G Hook3 hook microtubule-tethering protein 3 JBrowse link 16 70,710,347 70,818,789 RGD:8554872
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:7240710
RGD:8554872
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:8554872
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
RGD:7240710
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:8554872
RGD:7240710
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
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
Congenital Neuromuscular Disease, with Uniform Type 1 Fiber term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
congenital structural 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:11554173
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:1578366
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:11554173
G Ccdc78 coiled-coil domain containing 78 JBrowse link 10 15,155,839 15,160,039 RGD:11554173
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
RGD:11554173
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:1581815
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:1600519
RGD:11554173
RGD:8554872
G Mtmr14 myotubularin related protein 14 JBrowse link 4 145,195,046 145,238,097 RGD:11554173
G Myf6 myogenic factor 6 JBrowse link 7 49,739,643 49,741,490 RGD:1600529
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:11554173
G Orai1 ORAI calcium release-activated calcium modulator 1 JBrowse link 12 38,981,903 38,995,570 RGD:11554173
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:11554173
G Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:11554173
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:11554173
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:11554173
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:11554173
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:7240710
dermatomyositis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angptl2 angiopoietin-like 2 JBrowse link 3 12,262,822 12,292,665 RGD:13592920
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:11554173
G C9 complement C9 JBrowse link 2 55,775,562 55,823,807 RGD:11554173
G Ccr2 C-C motif chemokine receptor 2 RGD:8661727
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:6893508
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:8547765
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8547765
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:9491763
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662437
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548628
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7794747
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:4889547
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:7794747
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:8693750
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:8547876
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547876
G Pms1 PMS1 homolog 1, mismatch repair system component JBrowse link 9 53,120,656 53,206,520 RGD:2324870
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661693
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:5685006
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:7794747
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7794747
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:7794747
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtap methylthioadenosine phosphorylase JBrowse link 5 107,711,077 107,777,530 RGD:7240710
RGD:8554872
distal arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:13592920
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:13592920
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:8554872
RGD:13592920
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:13592920
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:13592920
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:13592920
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:8554872
RGD:13592920
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:13592920
Distal Arthrogryposis Multiplex Congenita, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
Distal Arthrogryposis Multiplex Congenita, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba1 ubiquitin-like modifier activating enzyme 1 JBrowse link X 1,723,135 1,745,147 RGD:7240710
RGD:8554872
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
Distal Arthrogryposis, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap1 contactin associated protein 1 JBrowse link 10 89,087,904 89,103,615 RGD:8554872
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:7240710
RGD:8554872
Distal Arthrogryposis, Type 1B 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:7240710
RGD:8554872
Distal Arthrogryposis, Type 2B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:12792960
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:7240710
RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
Distal Arthrogryposis, Type 2B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:7240710
RGD:8554872
Distal Arthrogryposis, Type 2B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872
Distal Arthrogryposis, Type 2B4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
Distal Arthrogryposis, Type 5D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:7240710
RGD:8554872
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
RGD:7240710
distal muscular dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy5 adenylate cyclase 5 JBrowse link 11 68,695,839 68,842,452 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:7240710
RGD:8554872
G Frmd1 FERM domain containing 1 JBrowse link 1 54,316,651 54,328,405 RGD:8554872
distal muscular dystrophy Tateyama type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:7240710
RGD:8554872
G Ssuh2 ssu-2 homolog JBrowse link 4 144,301,913 144,322,197 RGD:8554872
distal muscular dystrophy with anterior tibial onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:7240710
RGD:8554872
distal myopathy 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:8554872
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:13592920
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:11068981
G Matr3 matrin 3 JBrowse link 18 28,351,691 28,390,764 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
RGD:11554173
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
RGD:11554173
distal myopathy 1 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
RGD:7240710
Distal Myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adssl1 adenylosuccinate synthase like 1 JBrowse link 6 137,184,818 137,206,694 RGD:8554872
RGD:7240710
Distal Myopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:7240710
Duchenne muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap6 A-kinase anchoring protein 6 JBrowse link 6 73,553,111 73,991,992 RGD:14349026
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11554173
G Cd4 Cd4 molecule JBrowse link 4 157,381,862 157,408,357 RGD:11554173
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:13592920
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11073211
RGD:11552581
RGD:11537476
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:1580859
RGD:8554872
RGD:11554173
RGD:12880034
RGD:12880014
RGD:12880007
RGD:11040981
RGD:12879862
RGD:737706
RGD:7240710
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang RGD:12880034
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi RGD:11040981
G Itga7 integrin subunit alpha 7 JBrowse link 7 3,355,079 3,383,886 RGD:13601981
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204809
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:13825135
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:12910703
G Postn periostin JBrowse link 2 143,656,820 143,688,087 RGD:11554173
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:12903957
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:12903957
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 RGD:1580161
G Utrn utrophin JBrowse link 1 6,451,809 6,970,040 RGD:737706
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
Dysferlinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 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
embryonal rhabdomyosarcoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:11554173
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:11554173
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 3 110,367,949 110,420,471 RGD:11554173
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:11554173
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:8554872
G Myod1 myogenic differentiation 1 JBrowse link 1 102,396,538 102,399,248 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Setd2 SET domain containing 2, histone lysine methyltransferase JBrowse link 8 118,802,478 118,888,224 RGD:11554173
G Slc22a18 solute carrier family 22, member 18 JBrowse link 1 216,676,330 216,700,632 RGD:13592920
G Stk11 serine/threonine kinase 11 JBrowse link 7 12,440,751 12,457,513 RGD:8554872
Emery-Dreifuss muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:1598907
RGD:8554872
RGD:11554173
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Gtpbp1 GTP binding protein 1 JBrowse link 7 120,923,274 120,947,723 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:1580516
RGD:8554872
RGD:11554173
G Sun1 Sad1 and UNC84 domain containing 1 JBrowse link 12 17,488,482 17,533,334 RGD:10044242
RGD:8554872
G Sun2 Sad1 and UNC84 domain containing 2 JBrowse link 7 120,950,391 120,967,583 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:8554872
RGD:11554173
RGD:13209003
G Syne2 spectrin repeat containing nuclear envelope protein 2 JBrowse link 6 98,884,269 99,153,551 RGD:8554872
RGD:11554173
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:11554173
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:13592920
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 RGD:8554872
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdx2 ferredoxin 2 JBrowse link 8 22,086,534 22,091,450 RGD:7240710
Epithelioid Leiomyoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:11554173
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:11554173
Exertional Myalgia, Muscle Stiffness and Myoglobinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 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
facioscapulohumeral muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:11554173
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:11554173
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:11554173
G Dcn decorin JBrowse link 7 38,742,250 38,782,282 RGD:11554173
G Dux4 double homeobox 4 JBrowse link 16 3,754,968 3,766,532 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:11554173
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:13592920
G Gstt2 glutathione S-transferase, theta 2 JBrowse link 20 13,760,810 13,764,481 RGD:11554173
G Hspa1b heat shock protein family A (Hsp70) member 1B JBrowse link 20 4,877,638 4,880,112 RGD:11554173
G Hspa4 heat shock protein family A (Hsp70) member 4 JBrowse link 10 38,601,624 38,642,397 RGD:11554173
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:13592920
G Lum lumican JBrowse link 7 38,820,058 38,826,862 RGD:11554173
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580621
facioscapulohumeral muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frg1 FSHD region gene 1 JBrowse link 16 53,957,858 53,978,865 RGD:11554173
facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emilin2 elastin microfibril interfacer 2 JBrowse link 9 119,594,049 119,653,675 RGD:8554872
G Lpin2 lipin 2 JBrowse link 9 119,517,101 119,591,533 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:7240710
RGD:8554872
RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:11554173
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:8554872
RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:7240710
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:8554872
RGD:7240710
Familial Idiopathic Inflammatory Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:11535001
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:11554173
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:11554173
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:11554173
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:8554872
RGD:7240710
fatal infantile hypertonic myofibrillar myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
fibroma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Antxr2 ANTXR cell adhesion molecule 2 JBrowse link 14 13,191,716 13,331,286 RGD:1599125
RGD:11554173
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit JBrowse link 6 137,762,230 137,808,573 RGD:9586716
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:11554173
Fibromatosis, Abdominal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:11554173
fibromyalgia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9479066
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:14995946
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:13450944
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8549787
Freeman-Sheldon Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537476
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:8554872
RGD:11537476
glycogen storage disease VII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:13592920
G Pfkm phosphofructokinase, muscle JBrowse link 7 139,702,066 139,722,132 RGD:1599108
RGD:8554872
RGD:11554173
RGD:7240710
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma JBrowse link 6 76,056,585 76,079,755 RGD:8554872
RGD:7240710
Gordon Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
Hecht Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:7240710
RGD:12914760
RGD:8554872
hereditary desmoid disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:7240710
RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:8554872
Hereditary Leiomyomatosis and Renal Cell Cancer term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fh fumarate hydratase JBrowse link 13 93,651,486 93,677,371 RGD:1598939
RGD:8554872
RGD:11554173
RGD:7240710
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
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lias lipoic acid synthetase JBrowse link 14 44,507,217 44,524,287 RGD:7240710
RGD:8554872
G Rpl9 ribosomal protein L9 JBrowse link 14 44,524,419 44,527,613 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872
Hyperparathyroidism 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt2 Beta-1,3-galactosyltransferase 2 JBrowse link 13 60,435,946 60,444,957 RGD:8554872
G Cdc73 cell division cycle 73 JBrowse link 13 60,403,771 60,496,511 RGD:8554872
RGD:7240710
Inclusion Body Myopathy 3, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Myh2 myosin heavy chain 2 JBrowse link 10 53,711,895 53,738,164 RGD:7240710
RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:7240710
RGD:8554872
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 4 81,237,496 81,241,281 RGD:8554872
RGD:7240710
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:7240710
RGD:8554872
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:10059681
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:11554173
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 4 81,237,496 81,241,281 RGD:10395280
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10059681
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:11554173
inclusion body myositis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr2 C-C motif chemokine receptor 2 RGD:8661727
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:6893508
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:1626306
G Csnk1a1 casein kinase 1, alpha 1 JBrowse link 18 56,887,722 56,910,610 RGD:10395231
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537409
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903959
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:11554173
RGD:8554872
G Myh1 myosin heavy chain 1 JBrowse link 10 53,740,841 53,764,610 RGD:8554872
G Myh2 myosin heavy chain 2 JBrowse link 10 53,711,895 53,738,164 RGD:1600532
RGD:8554872
RGD:13592920
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:1581257
G Tubg1 tubulin, gamma 1 JBrowse link 10 89,030,865 89,037,455 RGD:1626306
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:1599735
infantile myofibromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:11554173
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:8554872
RGD:11554173
Infantile Myofibromatosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:8554872
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:7240710
RGD:8554872
Infantile Myofibromatosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:7240710
RGD:8554872
inflammatory myofibroblastic tumor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:9999211
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:7241824
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:13592920
King Denborough Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
Klippel-Feil syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo18b myosin XVIIIb JBrowse link 12 49,761,100 49,979,745 RGD:11554173
leiomyoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1578690
G Bak1 BCL2-antagonist/killer 1 JBrowse link 20 5,609,620 5,618,899 RGD:1643479
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:10054112
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:1643479
RGD:10054112
G Bcl2l1 Bcl2-like 1 JBrowse link 3 148,259,594 148,314,191 RGD:1643479
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:2296031
G Ccng1 cyclin G1 JBrowse link 10 25,903,925 25,910,298 RGD:2316023
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:2289780
RGD:2289717
G Csnk2b casein kinase 2 beta JBrowse link 20 5,108,692 5,113,675 RGD:11565842
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:11554173
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 4 77,284,404 77,347,011 RGD:9588321
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:2292498
G Fgf1 fibroblast growth factor 1 JBrowse link 18 32,273,830 32,359,831 RGD:2290287
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:2290287
G Fgf7 fibroblast growth factor 7 JBrowse link 3 118,315,859 118,368,464 RGD:2301090
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:2298700
G Hmga2 high mobility group AT-hook 2 JBrowse link 7 65,159,944 65,275,408 RGD:1601568
G Hnrnpm heterogeneous nuclear ribonucleoprotein M JBrowse link 7 18,516,253 18,554,536 RGD:2301090
G Igfbp6 insulin-like growth factor binding protein 6 JBrowse link 7 143,749,385 143,754,018 RGD:2301708
G Inhba inhibin subunit beta A JBrowse link 17 51,894,869 51,919,998 RGD:11554173
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9590338
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:12859089
G Lnpep leucyl and cystinyl aminopeptidase JBrowse link 1 59,289,392 59,384,540 RGD:2314924
G Mki67 marker of proliferation Ki-67 JBrowse link 1 207,993,895 208,020,454 RGD:6483544
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:2290362
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:6483544
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:2292088
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:10413890
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:2292498
RGD:10413890
G Pcp4 Purkinje cell protein 4 JBrowse link 11 36,851,035 36,912,272 RGD:9850247
G Pdgfa platelet derived growth factor subunit A JBrowse link 12 17,734,141 17,756,186 RGD:2292153
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:2292153
G Pgr progesterone receptor JBrowse link 8 7,128,656 7,187,796 RGD:1601278
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:2292508
RGD:2292498
G Ptger3 prostaglandin E receptor 3 JBrowse link 2 263,895,093 263,979,682 RGD:10043352
G Ptk2 protein tyrosine kinase 2 JBrowse link 7 114,436,419 114,611,317 RGD:2292569
G Sfrp1 secreted frizzled-related protein 1 JBrowse link 16 73,372,007 73,410,777 RGD:2298808
RGD:11554173
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:11554173
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:2302021
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:11554173
RGD:11568684
G Wnt5b Wnt family member 5B JBrowse link 4 151,500,962 151,516,894 RGD:2298808
RGD:11554173
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:2298847
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:2302578
leiomyoma cutis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chml CHM like Rab escort protein JBrowse link 13 93,740,759 93,742,624 RGD:8554872
G Chrm3 cholinergic receptor, muscarinic 3 JBrowse link 17 63,990,599 64,463,222 RGD:8554872
G Exo1 exonuclease 1 JBrowse link 13 93,936,989 93,962,749 RGD:8554872
G Fh fumarate hydratase JBrowse link 13 93,651,486 93,677,371 RGD:8554872
G Fmn2 formin 2 JBrowse link 13 92,569,256 92,887,302 RGD:8554872
G Grem2 gremlin 2, DAN family BMP antagonist JBrowse link 13 92,894,431 92,988,137 RGD:8554872
G Kmo kynurenine 3-monooxygenase JBrowse link 13 93,684,324 93,715,378 RGD:8554872
G Opn3 opsin 3 JBrowse link 13 93,716,481 93,746,994 RGD:8554872
G Pld5 phospholipase D family, member 5 JBrowse link 13 94,025,696 94,355,219 RGD:8554872
G Rgs7 regulator of G-protein signaling 7 JBrowse link 13 93,095,659 93,534,452 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Wdr64 WD repeat domain 64 JBrowse link 13 93,751,754 93,874,149 RGD:8554872
G Zp4 zona pellucida glycoprotein 4 JBrowse link 17 65,497,359 65,503,912 RGD:8554872
leiomyomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd44 CD44 molecule (Indian blood group) JBrowse link 3 92,695,083 92,783,820 RGD:2296043
leiomyosarcoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amhr2 anti-Mullerian hormone receptor type 2 JBrowse link 7 144,052,202 144,060,678 RGD:2315651
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:2296049
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:8554872
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
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:2289964
G Hmga1 high mobility group AT-hook 1 JBrowse link 20 7,132,501 7,140,155 RGD:11554173
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 14 35,072,131 35,149,638 RGD:2292170
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:11353203
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11554173
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:2298564
G Usp18 ubiquitin specific peptidase 18 JBrowse link 4 153,812,312 153,834,374 RGD:11554173
G Xrn2 5'-3' exoribonuclease 2 JBrowse link 3 141,224,858 141,298,272 RGD:11041788
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
limb-girdle muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:11554173
RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:11554173
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:11554173
RGD:8554872
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:11667959
RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:11554173
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:8554872
RGD:11554173
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:8554872
RGD:13605616
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:13592920
G Ssuh2 ssu-2 homolog JBrowse link 4 144,301,913 144,322,197 RGD:8554872
G Trappc11 trafficking protein particle complex 11 JBrowse link 16 47,874,993 47,920,822 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Malignant Granular Cell Tumor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brd7 bromodomain containing 7 JBrowse link 19 19,672,780 19,701,484 RGD:8554872
malignant hyperthermia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1s calcium voltage-gated channel subunit alpha1 S JBrowse link 13 52,889,570 52,964,558 RGD:1300373
RGD:11554173
RGD:7240710
RGD:8554872
G Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 JBrowse link 10 95,921,479 95,934,170 RGD:734675
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
RGD:11554173
RGD:7240710
megaconial type congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chkb choline kinase beta JBrowse link 7 130,404,818 130,408,813 RGD:7240710
RGD:8554872
MELAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:11554173
RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:11554173
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:5491184
RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490235
RGD:8554872
RGD:11554173
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:5491173
RGD:8554872
RGD:11554173
RGD:5507825
RGD:5491184
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:11554173
RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
MERRF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 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
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:7240710
RGD:8554872
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 12b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148026
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694184
RGD:15039298
RGD:8554872
RGD:11554173
RGD:7240710
RGD:8694317
RGD:8694284
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sucla2 succinate-CoA ligase ADP-forming subunit beta JBrowse link 15 55,461,695 55,516,954 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:7240710
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:8554872
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:11554173
RGD:7240710
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:11554173
mitochondrial encephalomyopathy 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:10402107
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:11554173
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:8554872
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:8554872
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:11554173
G Mff mitochondrial fission factor JBrowse link 9 88,490,280 88,518,517 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:11554173
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 9 113,875,718 113,900,169 RGD:11554173
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694177
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:11554173
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:11554173
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:1601000
Mitochondrial Encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:5507824
G Timm50 translocase of inner mitochondrial membrane 50 JBrowse link 1 85,470,810 85,480,813 RGD:8554872
mitochondrial myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck2 aarF domain containing kinase 2 JBrowse link 4 67,359,531 67,373,390 RGD:13592920
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:13592920
G Dna2 DNA replication helicase/nuclease 2 RGD:10401079
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:8694159
G Fdx2 ferredoxin 2 JBrowse link 8 22,086,534 22,091,450 RGD:7240710
RGD:8554872
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:11554173
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580619
RGD:8554872
G Slc25a42 solute carrier family 25, member 42 JBrowse link 16 20,962,144 21,000,191 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Vdac1 voltage-dependent anion channel 1 JBrowse link 10 37,724,915 37,752,827 RGD:11554173
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla8 patatin-like phospholipase domain containing 8 JBrowse link 6 64,224,870 64,288,465 RGD:8554872
RGD:7240710
Mitochondrial Myopathy, and Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msto1 misato mitochondrial distribution and morphology regulator 1 JBrowse link 2 188,212,211 188,216,482 RGD:8554872
RGD:7240710
Mitochondrial Myopathy, Infantile, Transient term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:7240710
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
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
Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:8554872
multiple pterygium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
RGD:13592920
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:8554872
RGD:13592920
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:7240710
RGD:8554872
RGD:11554173
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:13592920
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:7240710
RGD:8554872
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:7240710
RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:7240710
RGD:8554872
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