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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;   ICD9CM:359.1;   NCI:C84910
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 (Cartwright blood group) JBrowse link 7 100,889,994 100,896,994 RGD:11554173
G ANO5 anoctamin 5 JBrowse link 11 22,192,485 22,283,357 RGD:8554872
G BCHE butyrylcholinesterase JBrowse link 3 165,772,904 165,837,451 RGD:11554173
G CAPN3 calpain 3 JBrowse link 15 42,359,500 42,412,317 RGD:1600769
RGD:8554872
G CAV3 caveolin 3 JBrowse link 3 8,733,802 8,746,758 RGD:1599529
G CHKB choline kinase beta JBrowse link 22 50,578,963 50,582,849 RGD:6483361
RGD:6483363
G COL6A1 collagen type VI alpha 1 chain JBrowse link 21 45,981,770 46,005,048 RGD:11554173
G COL6A2 collagen type VI alpha 2 chain JBrowse link 21 46,098,071 46,132,849 RGD:8554872
G COL6A3 collagen type VI alpha 3 chain JBrowse link 2 237,324,012 237,434,822 RGD:1600940
RGD:8554872
G DAG1 dystroglycan 1 JBrowse link 3 49,468,703 49,535,618 RGD:1358757
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:8554872
RGD:11554173
G DTHD1 death domain containing 1 JBrowse link 4 36,281,594 36,347,511 RGD:8554872
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 RGD:1598789
RGD:8554872
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:11064865
RGD:8554872
RGD:13592920
G FKTN fukutin JBrowse link 9 105,558,117 105,655,950 RGD:11576323
RGD:11554173
RGD:11576326
RGD:11576325
RGD:11070464
G GMPPB GDP-mannose pyrophosphorylase B JBrowse link 3 49,719,916 49,723,974 RGD:8554872
G GOSR2 golgi SNAP receptor complex member 2 JBrowse link 17 46,923,108 46,975,519 RGD:8554872
G LAMA2 laminin subunit alpha 2 JBrowse link 6 128,883,138 129,516,566 RGD:1600200
RGD:11554173
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 22 33,162,237 33,922,888 RGD:1358757
RGD:8554872
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
G LRRC37A2 leucine rich repeat containing 37 member A2 JBrowse link 17 46,512,710 47,049,128 RGD:8554872
G MYH2 myosin heavy chain 2 JBrowse link 17 10,521,148 10,549,658 RGD:8554872
G MYH8 myosin heavy chain 8 JBrowse link 17 10,390,322 10,421,950 RGD:12914761
G MYHAS myosin heavy chain gene cluster antisense RNA JBrowse link 17 10,383,132 10,625,540 RGD:8554872
G MYOT myotilin JBrowse link 5 137,867,282 137,887,851 RGD:1599673
G NEB nebulin JBrowse link 2 151,485,334 151,734,487 RGD:8554872
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 1 46,188,681 46,220,305 RGD:1599152
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:11532686
G POMT2 protein O-mannosyltransferase 2 JBrowse link 14 77,274,956 77,320,885 RGD:11532760
RGD:8554872
G PRIMA1 proline rich membrane anchor 1 JBrowse link 14 93,718,298 93,789,029 RGD:11554173
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,625 87,971,930 RGD:12859039
G RIF1 replication timing regulatory factor 1 JBrowse link 2 151,409,902 151,534,200 RGD:8554872
G SELENON selenoprotein N JBrowse link 1 25,800,193 25,818,221 RGD:11554173
G SGCA sarcoglycan alpha JBrowse link 17 50,165,517 50,175,928 RGD:1599345
RGD:8554872
RGD:13605611
RGD:1599344
G SGCB sarcoglycan beta JBrowse link 4 52,020,706 52,038,299 RGD:1599343
RGD:8554872
G SGCD sarcoglycan delta JBrowse link 5 155,728,636 156,767,788 RGD:1599341
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 6 152,121,684 152,637,395 RGD:13209008
G TNF tumor necrosis factor JBrowse link 6 31,575,565 31,578,336 RGD:10449464
G TP63 tumor protein p63 JBrowse link 3 189,596,746 189,897,279 RGD:8554872
G TRIM32 tripartite motif containing 32 JBrowse link 9 116,687,302 116,701,300 RGD:1624127
G TRIM63 tripartite motif containing 63 JBrowse link 1 26,051,304 26,067,634 RGD:14695084
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:8554872
G TTN-AS1 TTN antisense RNA 1 JBrowse link 2 178,522,827 178,620,217 RGD:8554872
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MATR3 matrin 3 JBrowse link 5 139,273,752 139,331,677 RGD:8554872
RGD:7240710
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RYR1 ryanodine receptor 1 JBrowse link 19 38,433,691 38,587,564 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 1 156,082,546 156,140,089 RGD:12791020
RGD:8554872
RGD:7240710
RGD:2306094
RGD:12791273
RGD:11062274
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 6 152,121,684 152,637,395 RGD:8554872
RGD:7240710
G SYNE1-AS1 SYNE1 antisense RNA 1 JBrowse link 6 152,380,530 152,381,713 RGD:8554872
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 14 63,761,904 64,226,449 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 3 14,125,006 14,143,680 RGD:8554872
RGD:7240710
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 7 157,337,004 157,417,439 RGD:8554872
RGD:7240710
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNPO3 transportin 3 JBrowse link 7 128,954,180 129,055,173 RGD:8554872
RGD:7240710
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 4 82,422,564 82,430,225 RGD:8554872
RGD:7240710
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAPN3 calpain 3 JBrowse link 15 42,359,500 42,412,317 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 1 156,082,546 156,140,089 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 11 22,192,485 22,283,357 RGD:8554872
G ASTN2 astrotactin 2 JBrowse link 9 116,423,112 117,415,057 RGD:8554872
G CAPN3 calpain 3 JBrowse link 15 42,359,500 42,412,317 RGD:8554872
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 RGD:8554872
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 1 46,188,681 46,220,305 RGD:8554872
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:8554872
G POMT2 protein O-mannosyltransferase 2 JBrowse link 14 77,274,956 77,320,885 RGD:11532762
RGD:8554872
G SACS sacsin molecular chaperone JBrowse link 13 23,328,827 23,433,728 RGD:8554872
G SGCB sarcoglycan beta JBrowse link 4 52,020,706 52,038,299 RGD:8554872
G SGCD sarcoglycan delta JBrowse link 5 155,728,636 156,767,788 RGD:8554872
G SGCG sarcoglycan gamma JBrowse link 13 23,160,308 23,325,165 RGD:8554872
G TCAP titin-cap JBrowse link 17 39,665,349 39,666,554 RGD:8554872
G TRIM32 tripartite motif containing 32 JBrowse link 9 116,687,302 116,701,300 RGD:8554872
G TSPAN1 tetraspanin 1 JBrowse link 1 46,175,087 46,196,489 RGD:8554872
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:8554872
G TTN-AS1 TTN antisense RNA 1 JBrowse link 2 178,522,827 178,620,217 RGD:8554872
G UCK1 uridine-cytidine kinase 1 JBrowse link 9 131,523,796 131,531,275 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 6 128,883,138 129,516,566 RGD:8554872
RGD:7240710
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 3 43,079,229 43,106,085 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 15 42,359,500 42,412,317 RGD:734687
RGD:8554872
RGD:7240710
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:8554872
G SGCB sarcoglycan beta JBrowse link 4 52,020,706 52,038,299 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APC APC regulator of WNT signaling pathway JBrowse link 5 112,707,498 112,846,239 RGD:8554872
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 RGD:7240710
RGD:8554872
RGD:11554173
G VDR vitamin D receptor JBrowse link 12 47,841,537 47,905,022 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 13 23,328,827 23,433,728 RGD:8554872
G SGCG sarcoglycan gamma JBrowse link 13 23,160,308 23,325,165 RGD:8554872
RGD:13605619
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DAG1 dystroglycan 1 JBrowse link 3 49,468,703 49,535,618 RGD:11073211
G SGCA sarcoglycan alpha JBrowse link 17 50,165,517 50,175,928 RGD:8554872
RGD:13605612
RGD:7240710
G TUBA1A tubulin alpha 1a JBrowse link 12 49,184,795 49,189,324 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 4 52,020,706 52,038,299 RGD:8554872
RGD:13605613
RGD:13605614
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SGCD sarcoglycan delta JBrowse link 5 155,728,636 156,767,788 RGD:8554872
RGD:11554173
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TCAP titin-cap JBrowse link 17 39,665,349 39,666,554 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASTN2 astrotactin 2 JBrowse link 9 116,423,112 117,415,057 RGD:8554872
G TRIM32 tripartite motif containing 32 JBrowse link 9 116,687,302 116,701,300 RGD:8554872
RGD:7240710
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 19 46,746,015 46,758,575 RGD:1598944
RGD:8554872
RGD:7240710
RGD:11063285
RGD:11667967
RGD:11667966
RGD:11667965
RGD:11667964
RGD:11667963
RGD:11667961
G STRN4 striatin 4 JBrowse link 19 46,719,509 46,746,475 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 2 178,525,989 178,807,423 RGD:8554872
RGD:7240710
G TTN-AS1 TTN antisense RNA 1 JBrowse link 2 178,522,827 178,620,217 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 19 46,746,015 46,758,575 RGD:8554872
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO5 anoctamin 5 JBrowse link 11 22,192,485 22,283,357 RGD:11066746
RGD:8554872
RGD:7240710
RGD:11570561
RGD:11570558
G FKTN fukutin JBrowse link 9 105,558,117 105,655,950 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 9 105,558,117 105,655,950 RGD:8554872
RGD:7240710
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 14 77,274,956 77,320,885 RGD:8554872
RGD:7240710
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 1 46,188,681 46,220,305 RGD:8554872
RGD:7240710
G TSPAN1 tetraspanin 1 JBrowse link 1 46,175,087 46,196,489 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 3 49,468,703 49,535,618 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEC plectin JBrowse link 8 143,915,153 143,976,800 RGD:8554872
RGD:7240710
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 4 183,659,267 183,713,594 RGD:8554872
RGD:7240710
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 3 49,719,916 49,723,974 RGD:8554872
RGD:7240710
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 7 16,087,525 16,421,538 RGD:8554872
RGD:7240710
G CRPPA-AS1 CRPPA antisense RNA 1 JBrowse link 7 16,210,486 16,270,604 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 2 127,645,864 127,652,639 RGD:8554872
G LIMS2 LIM zinc finger domain containing 2 JBrowse link 2 127,638,381 127,681,786 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 6 105,096,822 105,137,157 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 1 179,882,042 179,920,077 RGD:8554872
RGD:7240710
G TOR1AIP2 torsin 1A interacting protein 2 JBrowse link 1 179,839,976 179,877,803 RGD:8554872
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXC1 forkhead box C1 JBrowse link 6 1,609,915 1,613,897 RGD:11554173
G HMGN2 high mobility group nucleosomal binding domain 2 JBrowse link 1 26,472,440 26,476,642 RGD:13592920
G PAX6 paired box 6 JBrowse link 11 31,784,792 31,817,961 RGD:11554173
G PITX2 paired like homeodomain 2 JBrowse link 4 110,617,423 110,642,123 RGD:8554872
RGD:11554173
RGD:7240710
G PRDM5 PR/SET domain 5 JBrowse link 4 120,684,906 120,922,866 RGD:8554872
Becker muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:8554872
RGD:7240710
G PKP2 plakophilin 2 JBrowse link 12 32,790,746 32,896,846 RGD:8554872
G SNTA1 syntrophin alpha 1 JBrowse link 20 33,407,957 33,443,853 RGD:8554872
Beta-sarcoglycanopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SGCB sarcoglycan beta JBrowse link 4 52,020,706 52,038,299 RGD:8554872
Bethlem myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL12A1 collagen type XII alpha 1 chain JBrowse link 6 75,084,326 75,206,262 RGD:11554173
G COL6A1 collagen type VI alpha 1 chain JBrowse link 21 45,981,770 46,005,048 RGD:8554872
RGD:11554173
G COL6A2 collagen type VI alpha 2 chain JBrowse link 21 46,098,071 46,132,849 RGD:8554872
RGD:11554173
G COL6A3 collagen type VI alpha 3 chain JBrowse link 2 237,324,012 237,434,822 RGD:8554872
RGD:11554173
G FTCD formimidoyltransferase cyclodeaminase JBrowse link 21 46,135,981 46,156,482 RGD:8554872
Bethlem Myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACKR3 atypical chemokine receptor 3 JBrowse link 2 236,537,131 236,582,358 RGD:8554872
G COL6A1 collagen type VI alpha 1 chain JBrowse link 21 45,981,770 46,005,048 RGD:1600934
RGD:8554872
RGD:7240710
G COL6A2 collagen type VI alpha 2 chain JBrowse link 21 46,098,071 46,132,849 RGD:1600934
RGD:8554872
RGD:7240710
G COL6A3 collagen type VI alpha 3 chain JBrowse link 2 237,324,012 237,434,822 RGD:7240710
RGD:8554872
G COPS8 COP9 signalosome subunit 8 JBrowse link 2 237,085,441 237,100,474 RGD:8554872
G FTCD formimidoyltransferase cyclodeaminase JBrowse link 21 46,135,981 46,156,482 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 6 75,084,326 75,206,262 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 16 28,878,488 28,904,511 RGD:734618
RGD:8554872
RGD:7240710
G ATP2A1-AS1 ATP2A1 antisense RNA 1 JBrowse link 16 28,878,957 28,879,921 RGD:8554872
G ATXN2L ataxin 2 like JBrowse link 16 28,823,048 28,837,237 RGD:8554872
G MIR4721 microRNA 4721 JBrowse link 16 28,843,919 28,844,007 RGD:8554872
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 JBrowse link 16 28,904,421 28,925,238 RGD:8554872
G SH2B1 SH2B adaptor protein 1 JBrowse link 16 28,846,600 28,874,213 RGD:8554872
G TUFM Tu translation elongation factor, mitochondrial JBrowse link 16 28,842,411 28,859,562 RGD:8554872
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 1 155,139,891 155,140,573 RGD:8554872
RGD:7240710
congenital merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCHE butyrylcholinesterase JBrowse link 3 165,772,904 165,837,451 RGD:5688132
G LAMA2 laminin subunit alpha 2 JBrowse link 6 128,883,138 129,516,566 RGD:8554872
RGD:13605609
RGD:7240710
congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAPN3 calpain 3 JBrowse link 15 42,359,500 42,412,317 RGD:8554872
G COL6A1 collagen type VI alpha 1 chain JBrowse link 21 45,981,770 46,005,048 RGD:8554872
G COL6A2 collagen type VI alpha 2 chain JBrowse link 21 46,098,071 46,132,849 RGD:8554872
G COL6A3 collagen type VI alpha 3 chain JBrowse link 2 237,324,012 237,434,822 RGD:8554872
RGD:13592920
G CRPPA CDP-L-ribitol pyrophosphorylase A JBrowse link 7 16,087,525 16,421,538 RGD:8554872
G CRPPA-AS1 CRPPA antisense RNA 1 JBrowse link 7 16,210,486 16,270,604 RGD:8554872
G FKBP14 FKBP prolyl isomerase 14 JBrowse link 7 30,010,587 30,026,702 RGD:8554872
G ITGA7 integrin subunit alpha 7 JBrowse link 12 55,684,568 55,716,037 RGD:8554872
G LAMA2 laminin subunit alpha 2 JBrowse link 6 128,883,138 129,516,566 RGD:8554872
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 22 33,162,237 33,922,888 RGD:8554872
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
G NEB nebulin JBrowse link 2 151,485,334 151,734,487 RGD:8554872
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 1 46,188,681 46,220,305 RGD:8554872
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:8554872
G POMT2 protein O-mannosyltransferase 2 JBrowse link 14 77,274,956 77,320,885 RGD:8554872
G RIF1 replication timing regulatory factor 1 JBrowse link 2 151,409,902 151,534,200 RGD:8554872
G RYR1 ryanodine receptor 1 JBrowse link 19 38,433,691 38,587,564 RGD:8554872
G SGCB sarcoglycan beta JBrowse link 4 52,020,706 52,038,299 RGD:8554872
G TSPAN1 tetraspanin 1 JBrowse link 1 46,175,087 46,196,489 RGD:8554872
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:8554872
G TTN-AS1 TTN antisense RNA 1 JBrowse link 2 178,522,827 178,620,217 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 7 16,087,525 16,421,538 RGD:8554872
G ITGA7 integrin subunit alpha 7 JBrowse link 12 55,684,568 55,716,037 RGD:8554872
RGD:13601979
RGD:7240710
congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:12791283
RGD:8554872
RGD:7240710
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 6 128,883,138 129,516,566 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 17 1,494,575 1,516,735 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 15 64,387,836 64,455,303 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 3 49,719,916 49,723,974 RGD:8554872
RGD:7240710
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 7 16,599,779 16,645,816 RGD:8554872
G BZW2 basic leucine zipper and W2 domains 2 JBrowse link 7 16,646,134 16,706,523 RGD:8554872
G CRPPA CDP-L-ribitol pyrophosphorylase A JBrowse link 7 16,087,525 16,421,538 RGD:8554872
RGD:7240710
G CRPPA-AS1 CRPPA antisense RNA 1 JBrowse link 7 16,210,486 16,270,604 RGD:8554872
G LRRC72 leucine rich repeat containing 72 JBrowse link 7 16,526,825 16,581,568 RGD:8554872
G SOSTDC1 sclerostin domain containing 1 JBrowse link 7 16,461,481 16,465,738 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 1 46,188,681 46,220,305 RGD:8554872
G TSPAN1 tetraspanin 1 JBrowse link 1 46,175,087 46,196,489 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 11 66,345,374 66,347,629 RGD:8554872
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:8554872
RGD:13592920
G FKTN fukutin JBrowse link 9 105,558,117 105,655,950 RGD:8554872
RGD:13592920
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 22 33,162,237 33,922,888 RGD:13592920
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:8554872
RGD:7240710
G POMT2 protein O-mannosyltransferase 2 JBrowse link 14 77,274,956 77,320,885 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 12 63,779,831 63,809,562 RGD:8554872
RGD:7240710
G RXYLT1-AS1 RXYLT1 antisense RNA 1 JBrowse link 12 63,808,845 63,822,156 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 1 235,440,654 235,504,481 RGD:8554872
RGD:7240710
G TBCE tubulin folding cofactor E JBrowse link 1 235,367,360 235,452,443 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 8 43,056,299 43,085,788 RGD:8554872
G HOOK3 hook microtubule tethering protein 3 JBrowse link 8 42,896,978 43,030,535 RGD:8554872
G MIR4469 microRNA 4469 JBrowse link 8 42,896,197 42,896,275 RGD:8554872
G POMK protein O-mannose kinase JBrowse link 8 43,093,506 43,123,434 RGD:8554872
RGD:7240710
G RNF170 ring finger protein 170 JBrowse link 8 42,849,637 42,897,294 RGD:8554872
G THAP1 THAP domain containing 1 JBrowse link 8 42,836,674 42,843,331 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 11 66,345,374 66,347,629 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 14 77,274,956 77,320,885 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 1 46,188,681 46,220,305 RGD:8554872
RGD:7240710
G TSPAN1 tetraspanin 1 JBrowse link 1 46,175,087 46,196,489 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 19 46,746,015 46,758,575 RGD:8554872
RGD:7240710
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 22 33,162,237 33,922,888 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 3 43,079,229 43,106,085 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DAG1 dystroglycan 1 JBrowse link 3 49,468,703 49,535,618 RGD:8554872
RGD:7240710
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTAP methylthioadenosine phosphorylase JBrowse link 9 21,802,636 21,867,081 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 3 123,282,296 123,448,988 RGD:8554872
G FLNC filamin C JBrowse link 7 128,830,406 128,859,274 RGD:8554872
RGD:7240710
G FLNC-AS1 FLNC antisense RNA 1 JBrowse link 7 128,850,162 128,862,626 RGD:8554872
G FRMD1 FERM domain containing 1 JBrowse link 6 168,053,166 168,093,007 RGD:8554872
distal muscular dystrophy Tateyama type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAV3 caveolin 3 JBrowse link 3 8,733,802 8,746,758 RGD:8554872
RGD:7240710
G SSUH2 ssu-2 homolog JBrowse link 3 8,619,400 8,745,035 RGD:8554872
distal muscular dystrophy with anterior tibial onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APC APC regulator of WNT signaling pathway JBrowse link 5 112,707,498 112,846,239 RGD:8554872
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 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 130,129,362 130,165,887 RGD:8554872
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 RGD:13592920
G GJB1 gap junction protein beta 1 JBrowse link X 71,215,212 71,225,516 RGD:8554872
G HSPB8 heat shock protein family B (small) member 8 JBrowse link 12 119,178,931 119,194,746 RGD:8554872
G LDB3 LIM domain binding 3 JBrowse link 10 86,666,788 86,736,072 RGD:11068981
G MATR3 matrin 3 JBrowse link 5 139,273,752 139,331,677 RGD:8554872
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
G MHRT myosin heavy chain associated RNA transcript JBrowse link 14 23,415,450 23,417,595 RGD:8554872
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:8554872
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,740 23,435,677 RGD:8554872
RGD:11554173
G NEFL neurofilament light JBrowse link 8 24,950,955 24,956,612 RGD:8554872
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 130,110,633 130,184,873 RGD:8554872
G SNHG4 small nucleolar RNA host gene 4 JBrowse link 5 139,273,752 139,283,184 RGD:8554872
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:8554872
RGD:11554173
G TTN-AS1 TTN antisense RNA 1 JBrowse link 2 178,522,827 178,620,217 RGD:8554872
distal myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MHRT myosin heavy chain associated RNA transcript JBrowse link 14 23,415,450 23,417,595 RGD:8554872
G MYH6 myosin heavy chain 6 JBrowse link 14 23,381,990 23,408,277 RGD:8554872
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,740 23,435,677 RGD:8554872
RGD:7240710
Distal Myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADSS1 adenylosuccinate synthase 1 JBrowse link 14 104,724,197 104,747,325 RGD:8554872
RGD:7240710
Distal Myopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTN2 actinin alpha 2 JBrowse link 1 236,686,454 236,764,631 RGD:7240710
RGD:8554872
Duchenne muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKAP6 A-kinase anchoring protein 6 JBrowse link 14 32,203,610 32,837,684 RGD:14349026
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 34,255,285 34,257,203 RGD:11554173
G CD4 CD4 molecule JBrowse link 12 6,789,528 6,820,810 RGD:11554173
G CTSS cathepsin S JBrowse link 1 150,730,188 150,765,778 RGD:13592920
G DAG1 dystroglycan 1 JBrowse link 3 49,468,703 49,535,618 RGD:11073211
RGD:11552581
RGD:11537476
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:1580859
RGD:8554872
RGD:11554173
RGD:7240710
RGD:12880034
RGD:12880014
RGD:12880007
RGD:11040981
RGD:12879862
RGD:737706
G ITGA7 integrin subunit alpha 7 JBrowse link 12 55,684,568 55,716,037 RGD:13601981
G MIR3915 microRNA 3915 JBrowse link X 32,583,656 32,583,752 RGD:8554872
G MIR548F5 microRNA 548f-5 JBrowse link X 32,641,474 32,641,559 RGD:8554872
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:13204809
G NOS1 nitric oxide synthase 1 JBrowse link 12 117,208,142 117,361,802 RGD:13825135
G PKP2 plakophilin 2 JBrowse link 12 32,790,746 32,896,846 RGD:8554872
G PLA2G6 phospholipase A2 group VI JBrowse link 22 38,111,495 38,181,830 RGD:12910703
G POSTN periostin JBrowse link 13 37,562,582 37,598,844 RGD:11554173
G SNTA1 syntrophin alpha 1 JBrowse link 20 33,407,957 33,443,853 RGD:8554872
G STX1B syntaxin 1B JBrowse link 16 30,989,256 31,010,638 RGD:12903957
G STXBP1 syntaxin binding protein 1 JBrowse link 9 127,611,912 127,696,029 RGD:12903957
G TGFB1 transforming growth factor beta 1 JBrowse link 19 41,330,323 41,353,922 RGD:11554173
G TIMP2 TIMP metallopeptidase inhibitor 2 JBrowse link 17 78,852,977 78,925,387 RGD:1580161
G UTRN utrophin JBrowse link 6 144,284,955 144,853,034 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 31,119,219 33,339,460 RGD:8554872
Dysferlinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 RGD:8554872
Emery-Dreifuss muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EMD emerin JBrowse link X 154,379,236 154,381,523 RGD:1598907
RGD:8554872
RGD:11554173
G ESR1 estrogen receptor 1 JBrowse link 6 151,654,148 152,129,619 RGD:8554872
G GTPBP1 GTP binding protein 1 JBrowse link 22 38,704,561 38,738,265 RGD:8554872
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:1580516
RGD:8554872
RGD:11554173
G SUN1 Sad1 and UNC84 domain containing 1 JBrowse link 7 815,557 874,934 RGD:10044242
RGD:8554872
G SUN2 Sad1 and UNC84 domain containing 2 JBrowse link 22 38,734,727 38,756,014 RGD:8554872
G SYNE1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 6 152,121,684 152,637,395 RGD:13209003
RGD:8554872
RGD:11554173
G SYNE1-AS1 SYNE1 antisense RNA 1 JBrowse link 6 152,380,530 152,381,713 RGD:8554872
G SYNE2 spectrin repeat containing nuclear envelope protein 2 JBrowse link 14 63,761,904 64,226,449 RGD:8554872
RGD:11554173
G TMEM43 transmembrane protein 43 JBrowse link 3 14,125,006 14,143,680 RGD:11554173
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,078 40,294,180 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 8 144,373,762 144,393,242 RGD:8554872
G BOP1 BOP1 ribosomal biogenesis factor JBrowse link 8 144,262,045 144,291,438 RGD:8554872
G CPSF1 cleavage and polyadenylation specific factor 1 JBrowse link 8 144,393,231 144,409,400 RGD:8554872
G CYC1 cytochrome c1 JBrowse link 8 144,095,076 144,097,525 RGD:8554872
G CYHR1 cysteine and histidine rich 1 JBrowse link 8 144,449,582 144,465,701 RGD:8554872
G DGAT1 diacylglycerol O-acyltransferase 1 JBrowse link 8 144,314,584 144,326,852 RGD:8554872
G EXOSC4 exosome component 4 JBrowse link 8 144,064,061 144,080,648 RGD:8554872
G FBXL6 F-box and leucine rich repeat protein 6 JBrowse link 8 144,355,431 144,358,472 RGD:8554872
G FOXH1 forkhead box H1 JBrowse link 8 144,473,412 144,475,849 RGD:8554872
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 8 144,082,634 144,086,216 RGD:8554872
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 8 143,990,056 143,993,415 RGD:8554872
G HGH1 HGH1 homolog JBrowse link 8 144,137,691 144,140,851 RGD:8554872
G HSF1 heat shock transcription factor 1 JBrowse link 8 144,291,603 144,314,720 RGD:8554872
G KIFC2 kinesin family member C2 JBrowse link 8 144,466,246 144,474,202 RGD:8554872
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 8 144,104,461 144,107,611 RGD:8554872
G MIR1234 microRNA 1234 JBrowse link 8 144,400,086 144,400,165 RGD:8554872
G MIR661 microRNA 661 JBrowse link 8 143,945,191 143,945,279 RGD:8554872
G MROH1 maestro heat like repeat family member 1 JBrowse link 8 144,148,016 144,261,940 RGD:8554872
G OPLAH 5-oxoprolinase, ATP-hydrolysing JBrowse link 8 144,051,266 144,064,026 RGD:8554872
G PARP10 poly(ADP-ribose) polymerase family member 10 JBrowse link 8 143,977,158 143,986,460 RGD:8554872
G PLEC plectin JBrowse link 8 143,915,153 143,976,800 RGD:8554872
RGD:7240710
G SCRT1 scratch family transcriptional repressor 1 JBrowse link 8 144,330,565 144,336,482 RGD:8554872
G SCX scleraxis bHLH transcription factor JBrowse link 8 144,265,060 144,268,483 RGD:8554872
G SHARPIN SHANK associated RH domain interactor JBrowse link 8 144,098,637 144,104,248 RGD:8554872
G SLC39A4 solute carrier family 39 member 4 JBrowse link 8 144,412,414 144,417,146 RGD:8554872
G SLC52A2 solute carrier family 52 member 2 JBrowse link 8 144,358,547 144,361,272 RGD:8554872
G SPATC1 spermatogenesis and centriole associated 1 JBrowse link 8 144,010,992 144,047,114 RGD:8554872
G TMEM249 transmembrane protein 249 JBrowse link 8 144,353,226 144,355,609 RGD:8554872
G TONSL tonsoku like, DNA repair protein JBrowse link 8 144,428,775 144,444,488 RGD:8554872
G VPS28 VPS28 subunit of ESCRT-I JBrowse link 8 144,423,601 144,428,563 RGD:8554872
facioscapulohumeral muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAN aggrecan JBrowse link 15 88,803,436 88,875,354 RGD:11554173
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 6 36,676,463 36,687,332 RGD:11554173
G COL3A1 collagen type III alpha 1 chain JBrowse link 2 188,974,373 189,012,746 RGD:11554173
G DCN decorin JBrowse link 12 91,140,484 91,182,817 RGD:11554173
G DUX4 double homeobox 4 JBrowse link 4 190,173,774 190,185,911 RGD:11554173
G ELN elastin JBrowse link 7 74,027,772 74,069,907 RGD:11554173
G FAT1 FAT atypical cadherin 1 JBrowse link 4 186,587,789 186,726,696 RGD:13592920
G GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) JBrowse link 22 23,980,134 23,983,915 RGD:11554173
G HSPA1B heat shock protein family A (Hsp70) member 1B JBrowse link 6 31,827,738 31,830,254 RGD:11554173
G HSPA4 heat shock protein family A (Hsp70) member 4 JBrowse link 5 133,052,013 133,106,449 RGD:11554173
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 22 33,162,237 33,922,888 RGD:13592920
G LUM lumican JBrowse link 12 91,102,629 91,111,494 RGD:11554173
G SLC25A4 solute carrier family 25 member 4 JBrowse link 4 185,143,266 185,150,382 RGD:1580621
facioscapulohumeral muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRG1 FSHD region gene 1 JBrowse link 4 189,940,846 189,963,204 RGD:11554173
facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EMILIN2 elastin microfibril interfacer 2 JBrowse link 18 2,847,006 2,916,003 RGD:8554872
G LPIN2 lipin 2 JBrowse link 18 2,916,994 3,013,315 RGD:8554872
G MYOM1 myomesin 1 JBrowse link 18 3,066,807 3,220,108 RGD:8554872
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 18 2,655,726 2,805,017 RGD:8554872
RGD:11554173
RGD:7240710
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DAG1 dystroglycan 1 JBrowse link 3 49,468,703 49,535,618 RGD:11537476
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:8554872
G FKTN fukutin JBrowse link 9 105,558,117 105,655,950 RGD:11537476
RGD:8554872
RGD:7240710
glycogen storage disease VII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 14 61,695,513 61,748,259 RGD:13592920
G PFKM phosphofructokinase, muscle JBrowse link 12 48,105,253 48,146,404 RGD:1599108
RGD:8554872
RGD:11554173
RGD:7240710
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 9 35,056,064 35,072,668 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 7 26,189,920 26,200,775 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 12 54,280,726 54,287,087 RGD:8554872
RGD:7240710
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 4 109,912,883 110,013,766 RGD:10059681
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 12 54,280,726 54,287,087 RGD:11554173
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 7 26,189,920 26,200,775 RGD:10395280
RGD:11554173
G TNF tumor necrosis factor JBrowse link 6 31,575,565 31,578,336 RGD:10059681
G VCP valosin containing protein JBrowse link 9 35,056,064 35,072,668 RGD:11554173
RGD:8554872
limb-girdle muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASTN2 astrotactin 2 JBrowse link 9 116,423,112 117,415,057 RGD:8554872
G CAV3 caveolin 3 JBrowse link 3 8,733,802 8,746,758 RGD:8554872
RGD:11554173
G DES desmin JBrowse link 2 219,418,377 219,426,734 RGD:11554173
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 7 157,337,004 157,417,439 RGD:8554872
RGD:11554173
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:11667959
RGD:8554872
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
RGD:11554173
G MYOT myotilin JBrowse link 5 137,867,282 137,887,851 RGD:8554872
RGD:11554173
G SGCD sarcoglycan delta JBrowse link 5 155,728,636 156,767,788 RGD:8554872
RGD:13605616
G SGCG sarcoglycan gamma JBrowse link 13 23,160,308 23,325,165 RGD:13592920
G SSUH2 ssu-2 homolog JBrowse link 3 8,619,400 8,745,035 RGD:8554872
G TRAPPC11 trafficking protein particle complex 11 JBrowse link 4 183,659,267 183,713,594 RGD:8554872
G TRIM32 tripartite motif containing 32 JBrowse link 9 116,687,302 116,701,300 RGD:8554872
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:8554872
G TTN-AS1 TTN antisense RNA 1 JBrowse link 2 178,522,827 178,620,217 RGD:8554872
megaconial type congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHKB choline kinase beta JBrowse link 22 50,578,963 50,582,849 RGD:8554872
RGD:7240710
G CHKB-CPT1B CHKB-CPT1B readthrough (NMD candidate) JBrowse link 22 50,568,861 50,582,999 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 8 102,204,501 102,238,961 RGD:8554872
RGD:11554173
RGD:7240710
G TYMP thymidine phosphorylase JBrowse link 22 50,525,752 50,530,085 RGD:11554173
Miyoshi muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO5 anoctamin 5 JBrowse link 11 22,192,485 22,283,357 RGD:8554872
G APC APC regulator of WNT signaling pathway JBrowse link 5 112,707,498 112,846,239 RGD:8554872
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 RGD:8554872
RGD:11554173
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APC APC regulator of WNT signaling pathway JBrowse link 5 112,707,498 112,846,239 RGD:8554872
G DYSF dysferlin JBrowse link 2 71,453,154 71,686,763 RGD:8554872
RGD:7240710
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANO5 anoctamin 5 JBrowse link 11 22,192,485 22,283,357 RGD:11570558
RGD:8554872
RGD:7240710
Muscular Dystrophy, Animal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:11554173
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:11667960
RGD:11667970
G MTOR mechanistic target of rapamycin kinase JBrowse link 1 11,106,535 11,273,497 RGD:10040985
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 4 23,792,021 24,472,905 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 3 119,468,955 119,494,708 RGD:8554872
RGD:7240710
muscular dystrophy-dystroglycanopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4GAT1 beta-1,4-glucuronyltransferase 1 JBrowse link 11 66,345,374 66,347,629 RGD:13592920
G CRPPA CDP-L-ribitol pyrophosphorylase A JBrowse link 7 16,087,525 16,421,538 RGD:8554872
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:13592920
RGD:8554872
G FKTN fukutin JBrowse link 9 105,558,117 105,655,950 RGD:13592920
G GMPPB GDP-mannose pyrophosphorylase B JBrowse link 3 49,719,916 49,723,974 RGD:8554872
RGD:11530903
RGD:13592920
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 22 33,162,237 33,922,888 RGD:13592920
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 1 46,188,681 46,220,305 RGD:13592920
G POMK protein O-mannose kinase JBrowse link 8 43,093,506 43,123,434 RGD:13592920
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:13592920
G POMT2 protein O-mannosyltransferase 2 JBrowse link 14 77,274,956 77,320,885 RGD:13592920
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 9 131,502,902 131,523,803 RGD:8554872
RGD:7240710
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 3 49,719,916 49,723,974 RGD:7240710
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 14 77,274,956 77,320,885 RGD:8554872
RGD:7240710
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 1 46,188,681 46,220,305 RGD:8554872
RGD:7240710
G TSPAN1 tetraspanin 1 JBrowse link 1 46,175,087 46,196,489 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 9 105,558,117 105,655,950 RGD:8554872
RGD:7240710
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 8 43,093,506 43,123,434 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 19 46,746,015 46,758,575 RGD:1358626
RGD:8554872
RGD:7240710
muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 22 33,162,237 33,922,888 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 14 23,412,740 23,435,677 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 (Langereis blood group) JBrowse link 2 219,209,772 219,218,958 RGD:8554872
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 JBrowse link 2 219,229,806 219,236,679 RGD:8554872
G ATG9A autophagy related 9A JBrowse link 2 219,219,380 219,229,636 RGD:8554872
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 2 218,659,683 218,663,443 RGD:8554872
G CATIP ciliogenesis associated TTC17 interacting protein JBrowse link 2 218,356,757 218,368,393 RGD:8554872
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 JBrowse link 2 218,959,666 218,962,155 RGD:8554872
G CFAP65 cilia and flagella associated protein 65 JBrowse link 2 219,002,846 219,043,142 RGD:8554872
G CNOT9 CCR4-NOT transcription complex subunit 9 JBrowse link 2 218,568,578 218,597,080 RGD:8554872
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 JBrowse link 2 219,171,897 219,179,272 RGD:8554872
G CRYBA2 crystallin beta A2 JBrowse link 2 218,990,190 218,993,422 RGD:8554872
G CTDSP1 CTD small phosphatase 1 JBrowse link 2 218,398,233 218,405,941 RGD:8554872
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 JBrowse link 2 218,781,733 218,815,293 RGD:8554872
G DES desmin JBrowse link 2 219,418,377 219,426,734 RGD:8554872
RGD:11554173
RGD:13542086
RGD:7240710
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 2 219,279,366 219,286,895 RGD:8554872
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 7 157,337,004 157,417,439 RGD:8554872
G DNPEP aspartyl aminopeptidase JBrowse link 2 219,372,043 219,400,007 RGD:8554872
G FEV FEV transcription factor, ETS family member JBrowse link 2 218,981,087 218,985,184 RGD:8554872
G GLB1L galactosidase beta 1 like JBrowse link 2 219,236,598 219,245,444 RGD:8554872
G IHH Indian hedgehog signaling molecule JBrowse link 2 219,054,424 219,060,921 RGD:8554872
G LDB3 LIM domain binding 3 JBrowse link 10 86,666,788 86,736,072 RGD:13592920
G MIR26B microRNA 26b JBrowse link 2 218,402,646 218,402,722 RGD:8554872
G MIR375 microRNA 375 JBrowse link 2 219,001,645 219,001,708 RGD:8554872
G NHEJ1 non-homologous end joining factor 1 JBrowse link 2 219,075,324 219,160,865 RGD:8554872
G PLCD4 phospholipase C delta 4 JBrowse link 2 218,606,871 218,637,186 RGD:8554872
G PNKD PNKD metallo-beta-lactamase domain containing JBrowse link 2 218,270,485 218,346,793 RGD:8554872
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 JBrowse link 2 218,819,949 218,831,803 RGD:8554872
G PTPRN protein tyrosine phosphatase receptor type N JBrowse link 2 219,289,623 219,309,404 RGD:8554872
G RESP18 regulated endocrine specific protein 18 JBrowse link 2 219,327,407 219,334,535 RGD:8554872
G RETREG2 reticulophagy regulator family member 2 JBrowse link 2 219,178,227 219,185,475 RGD:8554872
G RNF25 ring finger protein 25 JBrowse link 2 218,663,874 218,672,002 RGD:8554872
G SLC11A1 solute carrier family 11 member 1 JBrowse link 2 218,381,766 218,396,894 RGD:8554872
G SLC23A3 solute carrier family 23 member 3 JBrowse link 2 219,161,465 219,170,029 RGD:8554872
G STK16 serine/threonine kinase 16 JBrowse link 2 219,245,469 219,250,337 RGD:8554872
G STK36 serine/threonine kinase 36 JBrowse link 2 218,672,049 218,702,717 RGD:8554872
G TMBIM1 transmembrane BAX inhibitor motif containing 1 JBrowse link 2 218,274,192 218,292,577 RGD:8554872
G TTLL4 tubulin tyrosine ligase like 4 JBrowse link 2 218,710,835 218,757,484 RGD:8554872
G TUBA4A tubulin alpha 4a JBrowse link 2 219,249,710 219,254,608 RGD:8554872
G USP37 ubiquitin specific peptidase 37 JBrowse link 2 218,450,251 218,568,393 RGD:8554872
G VIL1 villin 1 JBrowse link 2 218,419,123 218,453,295 RGD:8554872
G WNT10A Wnt family member 10A JBrowse link 2 218,874,116 218,893,931 RGD:8554872
G WNT6 Wnt family member 6 JBrowse link 2 218,859,805 218,874,233 RGD:8554872
G ZFAND2B zinc finger AN1-type containing 2B JBrowse link 2 219,206,782 219,209,651 RGD:8554872
G ZNF142 zinc finger protein 142 JBrowse link 2 218,633,329 218,659,623 RGD:8554872
myofibrillar myopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYOT myotilin JBrowse link 5 137,867,282 137,887,851 RGD:8554872
RGD:11554173
RGD:7240710
myofibrillar myopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:8554872
RGD:7240710
G TTN-AS1 TTN antisense RNA 1 JBrowse link 2 178,522,827 178,620,217 RGD:8554872
Myofibrillar Myopathy, ZASP-Related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LDB3 LIM domain binding 3 JBrowse link 10 86,666,788 86,736,072 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 1 154,983,344 154,993,111 RGD:8554872
RGD:7240710
MYOPATHY, SCAPULOHUMEROPERONEAL term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA1 actin alpha 1, skeletal muscle JBrowse link 1 229,431,245 229,434,094 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 7 143,316,111 143,352,083 RGD:704389
RGD:8554872
RGD:11554173
G SCN4A sodium voltage-gated channel alpha subunit 4 JBrowse link 17 63,938,554 63,972,918 RGD:8554872
RGD:11554173
Myotonia Congenita, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN1 chloride voltage-gated channel 1 JBrowse link 7 143,316,111 143,352,083 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 7 143,316,111 143,352,083 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 3 152,243,632 152,465,780 RGD:13592920
G SCN4A sodium voltage-gated channel alpha subunit 4 JBrowse link 17 63,938,554 63,972,918 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 3 129,167,827 129,183,896 RGD:11554173
G DM1-AS DM1 locus antisense RNA JBrowse link 19 45,767,796 45,771,883 RGD:8554872
G DMPK DM1 protein kinase JBrowse link 19 45,769,709 45,782,490 RGD:1600900
RGD:8554872
RGD:11554173
RGD:7240710
G LDB3 LIM domain binding 3 JBrowse link 10 86,666,788 86,736,072 RGD:12792205
G NKX2-5 NK2 homeobox 5 JBrowse link 5 173,232,109 173,235,321 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 3 129,167,827 129,183,896 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 12 57,243,453 57,251,188 RGD:8554872
RGD:7240710
Nonaka Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 9 36,214,441 36,277,057 RGD:8554872
RGD:11554173
RGD:7240710
G SQSTM1 sequestosome 1 JBrowse link 5 179,806,393 179,838,078 RGD:8554872
RGD:7240710
oculopharyngeal muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough JBrowse link 14 23,306,833 23,326,185 RGD:8554872
G LRP12 LDL receptor related protein 12 JBrowse link 8 104,489,231 104,589,024 RGD:11554173
G NUTM2B-AS1 NUTM2B antisense RNA 1 JBrowse link 10 79,691,500 79,826,594 RGD:11554173
G PABPN1 poly(A) binding protein nuclear 1 JBrowse link 14 23,320,188 23,326,185 RGD:8554872
RGD:11554173
RGD:7240710
Oculopharyngodistal Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP12 LDL receptor related protein 12 JBrowse link 8 104,489,231 104,589,024 RGD:7240710
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 17 63,938,554 63,972,918 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 17 63,938,554 63,972,918 RGD:13208523
RGD:8554872
RGD:11554173
RGD:7240710
rigid spine muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA1 actin alpha 1, skeletal muscle JBrowse link 1 229,431,245 229,434,094 RGD:8554872
G RYR1 ryanodine receptor 1 JBrowse link 19 38,433,691 38,587,564 RGD:8554872
G SELENON selenoprotein N JBrowse link 1 25,800,193 25,818,221 RGD:1599352
RGD:8554872
RGD:7240710
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:8554872
rippling muscle disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAV3 caveolin 3 JBrowse link 3 8,733,802 8,746,758 RGD:8554872
RGD:11554173
RGD:7240710
G SSUH2 ssu-2 homolog JBrowse link 3 8,619,400 8,745,035 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 18 2,655,726 2,805,017 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 136,146,702 136,211,359 RGD:13592920
G MHRT myosin heavy chain associated RNA transcript JBrowse link 14 23,415,450 23,417,595 RGD:8554872
G MYH6 myosin heavy chain 6 JBrowse link 14 23,381,990 23,408,277 RGD:8554872
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,740 23,435,677 RGD:8554872
RGD:13592920
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASAH1 N-acylsphingosine amidohydrolase 1 JBrowse link 8 18,055,992 18,084,961 RGD:8554872
RGD:7240710
tibial muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:8554872
RGD:7240710
G TTN-AS1 TTN antisense RNA 1 JBrowse link 2 178,522,827 178,620,217 RGD:8554872
Ullrich congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL12A1 collagen type XII alpha 1 chain JBrowse link 6 75,084,326 75,206,262 RGD:11554173
RGD:8554872
G COL6A1 collagen type VI alpha 1 chain JBrowse link 21 45,981,770 46,005,048 RGD:8554872
RGD:7240710
G COL6A2 collagen type VI alpha 2 chain JBrowse link 21 46,098,071 46,132,849 RGD:8554872
RGD:7240710
G COL6A3 collagen type VI alpha 3 chain JBrowse link 2 237,324,012 237,434,822 RGD:8554872
RGD:7240710
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 6 75,084,326 75,206,262 RGD:8554872
RGD:7240710
Walker-Warburg syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP4 aquaporin 4 JBrowse link 18 26,852,038 26,865,803 RGD:5148028
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 1 235,440,654 235,504,481 RGD:11554173
G B4GAT1 beta-1,4-glucuronyltransferase 1 JBrowse link 11 66,345,374 66,347,629 RGD:8554872
RGD:11554173
G COL4A1 collagen type IV alpha 1 chain JBrowse link 13 110,148,963 110,307,157 RGD:13592920
G CRPPA CDP-L-ribitol pyrophosphorylase A JBrowse link 7 16,087,525 16,421,538 RGD:11554173
G DAG1 dystroglycan 1 JBrowse link 3 49,468,703 49,535,618 RGD:11537405
RGD:11554173
RGD:11537406
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:11667969
RGD:8554872
RGD:11554173
G FKTN fukutin JBrowse link 9 105,558,117 105,655,950 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 9 105,442,183 105,552,433 RGD:8554872
G GMPPB GDP-mannose pyrophosphorylase B JBrowse link 3 49,719,916 49,723,974 RGD:11554173
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 22 33,162,237 33,922,888 RGD:8554872
RGD:11554173
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 1 46,188,681 46,220,305 RGD:11532772
RGD:8554872
RGD:11554173
RGD:11071487
RGD:1554293
RGD:11065512
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 3 43,079,229 43,106,085 RGD:11532770
RGD:11554173
G POMK protein O-mannose kinase JBrowse link 8 43,093,506 43,123,434 RGD:11554173
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:731235
RGD:11554173
RGD:8554872
RGD:11073321
RGD:11532686
G POMT2 protein O-mannosyltransferase 2 JBrowse link 14 77,274,956 77,320,885 RGD:11532761
RGD:11554173
G RXYLT1 ribitol xylosyltransferase 1 JBrowse link 12 63,779,831 63,809,562 RGD:11554173
RGD:8554872
G TSPAN1 tetraspanin 1 JBrowse link 1 46,175,087 46,196,489 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 2 70,209,444 70,248,793 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 136,146,702 136,211,359 RGD:8554872
RGD:7240710
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCD1 ATP binding cassette subfamily D member 1 JBrowse link X 153,724,851 153,744,755 RGD:8554872
G ARHGAP4 Rho GTPase activating protein 4 JBrowse link X 153,907,378 153,926,264 RGD:8554872
G AVPR2 arginine vasopressin receptor 2 JBrowse link X 153,902,625 153,907,166 RGD:8554872
G DNASE1L1 deoxyribonuclease 1 like 1 JBrowse link X 154,401,236 154,412,101 RGD:8554872
G EMD emerin JBrowse link X 154,379,236 154,381,523 RGD:8554872
RGD:7240710
G FLNA filamin A JBrowse link X 154,348,531 154,374,638 RGD:8554872
G HCFC1 host cell factor C1 JBrowse link X 153,947,556 153,972,360 RGD:8554872
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 153,785,768 153,794,375 RGD:8554872
G IRAK1 interleukin 1 receptor associated kinase 1 JBrowse link X 154,010,507 154,019,984 RGD:8554872
G L1CAM L1 cell adhesion molecule JBrowse link X 153,861,514 153,886,173 RGD:8554872
G MECP2 methyl-CpG binding protein 2 JBrowse link X 154,021,573 154,097,731 RGD:8554872
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link X 153,929,225 153,935,037 RGD:8554872
G OPN1LW opsin 1, long wave sensitive JBrowse link X 154,144,243 154,159,032 RGD:8554872
G OPN1MW opsin 1, medium wave sensitive JBrowse link X 154,182,596 154,196,861 RGD:8554872
G OPN1MW2 opsin 1, medium wave sensitive 2 JBrowse link X 154,219,734 154,233,286 RGD:8554872
G PDZD4 PDZ domain containing 4 JBrowse link X 153,802,166 153,830,887 RGD:8554872
G PLXNB3 plexin B3 JBrowse link X 153,764,196 153,779,346 RGD:8554872
G RENBP renin binding protein JBrowse link X 153,935,263 153,944,643 RGD:8554872
G RPL10 ribosomal protein L10 JBrowse link X 154,398,065 154,402,339 RGD:8554872
G SRPK3 SRSF protein kinase 3 JBrowse link X 153,781,001 153,785,732 RGD:8554872
G SSR4 signal sequence receptor subunit 4 JBrowse link X 153,794,159 153,798,512 RGD:8554872
G TAZ tafazzin JBrowse link X 154,411,539 154,421,726 RGD:8554872
G TEX28 testis expressed 28 JBrowse link X 154,271,265 154,295,356 RGD:8554872
G TKTL1 transketolase like 1 JBrowse link X 154,295,795 154,330,350 RGD:8554872
G TMEM187 transmembrane protein 187 JBrowse link X 153,972,754 153,983,194 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 136,146,702 136,211,359 RGD:8554872
RGD:7240710
G TTN titin JBrowse link 2 178,525,989 178,807,423 RGD:8554872
G TTN-AS1 TTN antisense RNA 1 JBrowse link 2 178,522,827 178,620,217 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16528
    disease of anatomical entity 15507
      musculoskeletal system disease 5214
        muscular disease 1062
          atrophic muscular disease 298
            muscular dystrophy 296
              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
              Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
              Duchenne muscular dystrophy + 20
              Emery-Dreifuss muscular dystrophy + 41
              MYOPATHY, SCAPULOHUMEROPERONEAL 1
              Muscular Dystrophy, Animal + 4
              Muscular Dystrophy, Barnes Type 0
              Muscular Dystrophy, Cardiac Type 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 1
              Progressive Muscular Dystrophy, Pectorodorsal 0
              Vacuolar Neuromyopathy 0
              congenital muscular dystrophy + 55
              distal myopathy + 31
              facioscapulohumeral muscular dystrophy + 18
              glycogen storage disease VII 2
              limb-girdle muscular dystrophy + 126
              myotonic disease + 21
              oculopharyngeal muscular dystrophy + 6
              scapuloperoneal myopathy + 4
Path 2
Term Annotations click to browse term
  disease 16528
    disease of anatomical entity 15507
      nervous system disease 11780
        peripheral nervous system disease 2267
          neuropathy 2099
            neuromuscular disease 1660
              muscular disease 1062
                muscle tissue disease 745
                  myopathy 609
                    muscular dystrophy 296
                      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
                      Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
                      Duchenne muscular dystrophy + 20
                      Emery-Dreifuss muscular dystrophy + 41
                      MYOPATHY, SCAPULOHUMEROPERONEAL 1
                      Muscular Dystrophy, Animal + 4
                      Muscular Dystrophy, Barnes Type 0
                      Muscular Dystrophy, Cardiac Type 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 1
                      Progressive Muscular Dystrophy, Pectorodorsal 0
                      Vacuolar Neuromyopathy 0
                      congenital muscular dystrophy + 55
                      distal myopathy + 31
                      facioscapulohumeral muscular dystrophy + 18
                      glycogen storage disease VII 2
                      limb-girdle muscular dystrophy + 126
                      myotonic disease + 21
                      oculopharyngeal muscular dystrophy + 6
                      scapuloperoneal myopathy + 4
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.