ONTOLOGY REPORT - ANNOTATIONS


Term:muscular dystrophy
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Accession:DOID:9884 term browser browse the term
Definition:A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
Synonyms:exact_synonym: Myodystrophica;   muscular dystrophies;   myodystrophicas;   myodystrophies;   myodystrophy
 primary_id: MESH:D009136
 alt_id: RDO:0000546
 xref: GARD:7922
For additional species annotation, visit the Alliance of Genome Resources.


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muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ache acetylcholinesterase JBrowse link 12 22,472,358 22,477,052 RGD:11554173
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:8554872
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:11554173
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:1600769
RGD:8554872
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:1599529
G Chkb choline kinase beta JBrowse link 7 130,404,818 130,408,813 RGD:6483361
RGD:6483363
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:11554173
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:1600934
RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:1600940
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:1358757
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
RGD:11554173
G Dthd1 death domain containing 1 JBrowse link 14 48,612,893 48,677,023 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:1598789
RGD:8554872
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:11064865
RGD:13592920
RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:11554173
RGD:11576326
RGD:11576325
RGD:11070464
RGD:11576323
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:8554872
G Gosr2 golgi SNAP receptor complex member 2 JBrowse link 10 91,735,772 91,756,123 RGD:8554872
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:1600200
RGD:11554173
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:1358757
RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:12914761
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:1599673
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:1599152
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:11532686
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:11532760
G Prima1 proline rich membrane anchor 1 JBrowse link 6 127,075,954 127,127,985 RGD:11554173
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859039
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8554872
G Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:11554173
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:1599344
RGD:8554872
RGD:13605611
RGD:1599345
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:1599341
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:13209008
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10449464
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:1624127
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
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 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 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 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 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 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 Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:734687
RGD:8554872
RGD:7240710
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
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
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:8554872
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:7240710
RGD:8554872
RGD:11554173
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
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 Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:8554872
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
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 Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:7240710
RGD:8554872
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 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 Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:11576328
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
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 Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
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 Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
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 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:8554872
RGD:7240710
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
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
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 Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:8554872
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:7240710
RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:7240710
RGD:8554872
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
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase JBrowse link 7 126,756,140 126,772,749 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
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 Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:7240710
RGD:8554872
RGD:13605609
G Slc19a3 solute carrier family 19 member 3 JBrowse link 9 88,762,775 88,828,553 RGD:8554872
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 Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 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 Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 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 Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 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
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, 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
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:12880034
RGD:12880014
RGD:12880007
RGD:11040981
RGD:12879862
RGD:11554173
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
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:11554173
RGD:8554872
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 Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
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 Frg1 FSHD region gene 1 JBrowse link 16 53,957,858 53,978,865 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
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:13592920
Facioscapulohumeral Muscular Dystrophy 1A 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 1B 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
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
Hereditary Myopathy with Early Respiratory Failure 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
Inclusion Body Myopathy with Early-Onset Paget Disease 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 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 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
Jankovic Rivera Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 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 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
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
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 Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
RGD:11554173
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Miyoshi muscular dystrophy 1 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 Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
RGD:7240710
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
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
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
Muscular Dystrophy, Animal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:11554173
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:11667960
RGD:11667970
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:10040985
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:11554173
Muscular Dystrophy, Limb-Girdle, Type 2Z term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 11 64,761,493 64,788,210 RGD:8554872
RGD:7240710
muscular dystrophy-dystroglycanopathy 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:13592920
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:13592920
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
RGD:13592920
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:13592920
RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:13592920
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:8554872
RGD:11530903
RGD:13592920
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:13592920
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:13592920
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:13592920
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:13592920
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:13592920
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:13592920
G Rxylt1 ribitol xylosyltransferase 1 JBrowse link 7 64,329,341 64,341,201 RGD:13592920
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 10 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
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 11 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 Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:7240710
RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13 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
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 14 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
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 2 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
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 5 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
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 6 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
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 7 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
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8 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 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:7240710
RGD:8554872
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 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
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:7240710
RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14 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
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 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
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 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
Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 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
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:7240710
RGD:8554872
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 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:8554872
RGD:7240710
muscular dystrophy-dystroglycanopathy type B5 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
RGD:1358626
muscular dystrophy-dystroglycanopathy type B6 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:1358756
RGD:8554872
RGD:7240710
MYH7-Related Scapuloperoneal 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
myofibrillar myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:8554872
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 JBrowse link 9 82,393,619 82,400,537 RGD:8554872
G Atg9a autophagy related 9A JBrowse link 9 82,382,800 82,393,429 RGD:8554872
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
G Catip ciliogenesis associated TTC17 interacting protein JBrowse link 9 81,644,239 81,652,045 RGD:8554872
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 JBrowse link 9 82,120,059 82,121,527 RGD:8554872
G Cfap65 cilia and flagella associated protein 65 JBrowse link 9 82,163,016 82,197,909 RGD:8554872
G Cnot9 CCR4-NOT transcription complex subunit 9 JBrowse link 9 81,783,349 81,808,815 RGD:8554872
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 JBrowse link 9 82,338,865 82,345,262 RGD:8554872
G Cryba2 crystallin, beta A2 JBrowse link 9 82,151,056 82,154,266 RGD:8554872
G Ctdsp1 CTD small phosphatase 1 JBrowse link 9 81,672,613 81,677,979 RGD:8554872
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:7240710
RGD:8554872
RGD:11554173
RGD:13542086
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:8554872
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:8554872
G Dnpep aspartyl aminopeptidase JBrowse link 9 82,505,529 82,514,399 RGD:8554872
G Fev FEV transcription factor, ETS family member JBrowse link 9 82,142,981 82,146,855 RGD:8554872
G Glb1l galactosidase, beta 1-like JBrowse link 9 82,400,457 82,410,970 RGD:8554872
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:13592920
G Mir26b microRNA 26b JBrowse link 9 81,675,275 81,675,359 RGD:8554872
G Mir375 microRNA 375 JBrowse link 9 82,161,716 82,161,790 RGD:8554872
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:8554872
G Plcd4 phospholipase C, delta 4 JBrowse link 9 81,816,395 81,844,364 RGD:8554872
G Pnkd PNKD metallo-beta-lactamase domain containing JBrowse link 9 81,566,074 81,634,531 RGD:8554872
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 JBrowse link 9 81,999,368 82,008,620 RGD:8554872
G Ptprn protein tyrosine phosphatase, receptor type, N JBrowse link 9 82,446,626 82,462,314 RGD:8554872
G Resp18 regulated endocrine-specific protein 18 JBrowse link 9 82,470,794 82,477,136 RGD:8554872
G Retreg2 reticulophagy regulator family member 2 JBrowse link 9 82,345,686 82,351,800 RGD:8554872
G Rnf25 ring finger protein 25 JBrowse link 9 81,873,293 81,880,172 RGD:8554872
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:8554872
G Slc23a3 solute carrier family 23, member 3 JBrowse link 9 82,328,007 82,338,576 RGD:8554872
G Stk16 serine/threonine kinase 16 JBrowse link 9 82,411,010 82,414,249 RGD:8554872
G Stk36 serine/threonine kinase 36 JBrowse link 9 81,880,175 81,908,014 RGD:8554872
G Tmbim1 transmembrane BAX inhibitor motif containing 1 JBrowse link 9 81,569,289 81,586,469 RGD:8554872
G Ttll4 tubulin tyrosine ligase like 4 JBrowse link 9 81,925,363 81,961,882 RGD:8554872
G Tuba4a tubulin, alpha 4A JBrowse link 9 82,415,599 82,419,918 RGD:8554872
G Usp37 ubiquitin specific peptidase 37 JBrowse link 9 81,717,626 81,818,421 RGD:8554872
G Vil1 villin 1 JBrowse link 9 81,689,802 81,717,623 RGD:8554872
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
G Wnt6 Wnt family member 6 JBrowse link 9 82,033,543 82,047,172 RGD:8554872
G Zfand2b zinc finger AN1-type containing 2B JBrowse link 9 82,370,887 82,373,843 RGD:8554872
G Zfp142 zinc finger protein 142 JBrowse link 9 81,844,138 81,868,086 RGD:8554872
myofibrillar myopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:8554872
RGD:11554173
RGD:7240710
Myofibrillar Myopathy, ZASP-Related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
Myopathy with Abnormal Lipid Metabolism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flad1 flavin adenine dinucleotide synthetase 1 JBrowse link 2 188,726,994 188,736,462 RGD:8554872
RGD:7240710
Myopathy, Distal, 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
Myopathy, Distal, 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
Myopathy, Distal, with Anterior Tibial Onset 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 Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:7240710
RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
MYOPATHY, SCAPULOHUMEROPERONEAL 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:7240710
myotonia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn1 chloride voltage-gated channel 1 JBrowse link 4 71,674,218 71,704,318 RGD:704389
RGD:8554872
RGD:11554173
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:11554173
RGD:8554872
Myotonia Congenita, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn1 chloride voltage-gated channel 1 JBrowse link 4 71,674,218 71,704,318 RGD:7240710
RGD:8554872
Myotonia Congenita, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn1 chloride voltage-gated channel 1 JBrowse link 4 71,674,218 71,704,318 RGD:8554872
RGD:7240710
myotonic disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbnl1 muscleblind-like splicing regulator 1 JBrowse link 2 150,698,248 150,867,791 RGD:13592920
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:11554173
myotonic dystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnbp CCHC-type zinc finger, nucleic acid binding protein JBrowse link 4 119,747,890 119,756,787 RGD:11554173
G Dmpk DM1 protein kinase JBrowse link 1 79,988,096 79,999,358 RGD:1600900
RGD:8554872
RGD:11554173
RGD:7240710
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:12792205
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:11554173
myotonic dystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnbp CCHC-type zinc finger, nucleic acid binding protein JBrowse link 4 119,747,890 119,756,787 RGD:7240710
Native American myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stac3 SH3 and cysteine rich domain 3 JBrowse link 7 70,807,427 70,815,271 RGD:7240710
RGD:8554872
Nonaka Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:7240710
RGD:8554872
RGD:11554173
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:8554872
RGD:7240710
oculopharyngeal muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pabpn1 poly(A) binding protein, nuclear 1 JBrowse link 15 33,555,640 33,560,251 RGD:7240710
RGD:11554173
RGD:8554872
PARAMYOTONIA CONGENITA OF VON EULENBURG term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
Potassium Aggravated Myotonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
RGD:13208523
RGD:11554173
rigid spine muscular dystrophy 1 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 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:1599352
RGD:8554872
RGD:7240710
rippling muscle disease 2 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
RGD:11554173
G Ssuh2 ssu-2 homolog JBrowse link 4 144,301,913 144,322,197 RGD:8554872
Scapulohumeral Muscular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:8554872
scapuloperoneal myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:13592920
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:13592920
tibial muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
RGD:7240710
Ullrich congenital muscular dystrophy 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
RGD:8554872
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:7240710
RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:7240710
RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:7240710
RGD:8554872
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase JBrowse link 7 126,756,140 126,772,749 RGD:8554872
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 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:7240710
RGD:8554872
Walker-Warburg syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148028
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:11554173
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
RGD:11554173
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:13592920
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:11554173
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537405
RGD:11554173
RGD:11537406
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
RGD:11554173
RGD:11667969
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:1598929
RGD:8554872
RGD:11554173
RGD:11537406
RGD:11062579
RGD:11576320
G Fsd1l fibronectin type III and SPRY domain containing 1-like JBrowse link 5 70,441,075 70,517,131 RGD:8554872
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:11554173
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
RGD:11554173
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
RGD:11071487
RGD:1554293
RGD:11065512
RGD:11532772
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:11532770
RGD:11554173
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:11554173
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:731235
RGD:8554872
RGD:11073321
RGD:11532686
RGD:7240710
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:11532761
RGD:8554872
RGD:11554173
G Rxylt1 ribitol xylosyltransferase 1 JBrowse link 7 64,329,341 64,341,201 RGD:11554173
RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
Welander Distal Myopathy, Swedish Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tia1 TIA1 cytotoxic granule-associated RNA binding protein JBrowse link 4 118,207,845 118,238,246 RGD:7240710
RGD:8554872
X-Linked Dominant Scapuloperoneal Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:7240710
RGD:8554872
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
RGD:7240710
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
X-linked Emery-Dreifuss muscular dystrophy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:7240710
RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      musculoskeletal system disease 3995
        muscular disease 908
          atrophic muscular disease 244
            muscular dystrophy 243
              Adult-Onset Muscular Dystrophy with Leukoencephalopathy 0
              Alpha-B Crystallinopathy with Cataract 0
              Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
              Bassoe Syndrome 0
              Becker muscular dystrophy + 3
              Duchenne muscular dystrophy + 22
              Emery-Dreifuss muscular dystrophy + 15
              MYOPATHY, SCAPULOHUMEROPERONEAL 1
              Muscular Dystrophy, Animal + 4
              Muscular Dystrophy, Barnes Type 0
              Muscular Dystrophy, Cardiac Type 0
              Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism 0
              Muscular Dystrophy, Mabry Type 0
              Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 0
              Myofibrillar Myopathy, ZASP-Related 1
              Myopathy with Abnormal Lipid Metabolism 1
              Oculopharyngodistal Myopathy 0
              Progressive Muscular Dystrophy, Pectorodorsal 0
              Vacuolar Neuromyopathy 0
              congenital muscular dystrophy + 61
              distal myopathy + 35
              facioscapulohumeral muscular dystrophy + 18
              glycogen storage disease VII 2
              limb-girdle muscular dystrophy + 115
              myotonic disease + 18
              oculopharyngeal muscular dystrophy + 1
              rigid spine muscular dystrophy 1 3
              scapuloperoneal myopathy + 3
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        peripheral nervous system disease 2015
          neuropathy 1836
            neuromuscular disease 1412
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    muscular dystrophy 243
                      Adult-Onset Muscular Dystrophy with Leukoencephalopathy 0
                      Alpha-B Crystallinopathy with Cataract 0
                      Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
                      Bassoe Syndrome 0
                      Becker muscular dystrophy + 3
                      Duchenne muscular dystrophy + 22
                      Emery-Dreifuss muscular dystrophy + 15
                      MYOPATHY, SCAPULOHUMEROPERONEAL 1
                      Muscular Dystrophy, Animal + 4
                      Muscular Dystrophy, Barnes Type 0
                      Muscular Dystrophy, Cardiac Type 0
                      Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism 0
                      Muscular Dystrophy, Mabry Type 0
                      Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 0
                      Myofibrillar Myopathy, ZASP-Related 1
                      Myopathy with Abnormal Lipid Metabolism 1
                      Oculopharyngodistal Myopathy 0
                      Progressive Muscular Dystrophy, Pectorodorsal 0
                      Vacuolar Neuromyopathy 0
                      congenital muscular dystrophy + 61
                      distal myopathy + 35
                      facioscapulohumeral muscular dystrophy + 18
                      glycogen storage disease VII 2
                      limb-girdle muscular dystrophy + 115
                      myotonic disease + 18
                      oculopharyngeal muscular dystrophy + 1
                      rigid spine muscular dystrophy 1 3
                      scapuloperoneal myopathy + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.