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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:myopathy
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Accession:DOID:423 term browser browse the term
Definition:A muscular disease in which the muscle fibers do not function resulting in muscular weakness. (DO)
Synonyms:exact_synonym: Myopathic Condition;   Myopathic Conditions;   Myopathies
 narrow_synonym: acute quadriplegic myopathy;   skeletal myopathy;   variable myopathy
 xref: EFO:0000225;   EFO:0004145;   ICD10CM:G72.9;   ICD10CM:M60-M63;   ICD10CM:M62.9;   ICD9CM:359.9;   MIM:PS160565;   NCI:C101216
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:9973285 PMID:14517516 PMID:19327992 PMID:20060901 PMID:21429517 More... NCBI chr16:6,593,288...6,598,980
Ensembl chr16:6,593,287...6,598,979 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 PMID:29792937 PMID:31069529 PMID:34440373 NCBI chr25:66,700,448...66,703,325
Ensembl chr25:66,700,369...66,714,891 		JBrowse link
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chr 1:42,722,072...42,823,340
Ensembl chr 1:42,722,015...42,822,374 		JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr 8:1,487,076...1,620,387
Ensembl chr 8:1,502,226...1,620,389 		JBrowse link
G ASNSD1 asparagine synthetase domain containing 1 ISO MouseDO NCBI chr10:75,179,921...75,189,552
Ensembl chr10:75,184,721...75,191,046 		JBrowse link
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr12:22,176,073...23,155,638
Ensembl chr12:22,177,637...23,156,979 		JBrowse link
G BICD2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:24336790 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr12:103,232,602...103,281,317
Ensembl chr12:103,232,327...103,281,288 		JBrowse link
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr26:40,568,320...40,657,443
Ensembl chr26:40,568,885...40,625,597 		JBrowse link
G CASQ1 calsequestrin 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr20:3,744,921...3,759,220
Ensembl chr20:3,744,780...3,756,435 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:7874130 PMID:8533761 PMID:8571958 PMID:8845168 PMID:8857727 More... NCBI chr21:112,196,136...112,237,836
Ensembl chr21:112,197,518...112,236,115 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:16199547 PMID:18366090 PMID:20976770 PMID:21280092 PMID:25635128 More... NCBI chr 2:89,608,525...89,649,823 JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:19884007 PMID:19949035 PMID:25741868 PMID:28492532 PMID:29419890 More... NCBI chr 2:89,724,355...89,758,389
Ensembl chr 2:89,737,003...89,758,425 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr10:123,326,337...123,418,836
Ensembl chr10:123,327,102...123,400,114 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr20:79,710,638...79,728,100
Ensembl chr20:79,706,584...79,727,689 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr10:105,312,348...105,320,869 JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr  X:29,543,003...32,218,011 JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Skeletal myopathy ClinVar PMID:23806086 PMID:24088041 PMID:26257172 NCBI chr12:45,620,081...45,628,916
Ensembl chr12:45,619,281...45,628,304 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:16227997 PMID:17008356 PMID:17825552 PMID:18414213 PMID:19130742 More... NCBI chr 6:9,718,014...9,830,061
Ensembl chr 6:9,718,244...9,831,206 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr20:8,689,727...8,690,430 JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 PMID:26392352 PMID:26633542 PMID:28492532 PMID:30122514 More... NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr14:35,488,393...35,715,222
Ensembl chr14:35,488,391...35,651,395 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr  X:128,689,588...128,692,105
Ensembl chr  X:128,689,588...128,692,625 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr 7:105,214,231...105,252,100
Ensembl chr 7:105,213,653...105,254,502 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:20886638 PMID:25741868 NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:2510307 PMID:7668832 PMID:7717400 PMID:7881425 PMID:8558570 More... NCBI chr16:72,064,315...72,083,293
Ensembl chr16:72,067,267...72,083,349 		JBrowse link
G ISCU iron-sulfur cluster assembly enzyme ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:28492532 NCBI chr11:103,753,175...103,760,168
Ensembl chr11:103,753,189...103,760,364 		JBrowse link
G LOC103231480 myosin-7 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:15358028 PMID:16938236 PMID:19149795 PMID:20975235 PMID:22958901 More... NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771 		JBrowse link
G LOC103242383 myosin-2 ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr16:9,863,336...9,891,271 JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:32581362 NCBI chr  X:125,151,279...125,250,816
Ensembl chr  X:125,174,289...125,249,588 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr18:70,161,961...70,623,912
Ensembl chr18:70,246,132...70,622,611 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:10652001 PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 More... NCBI chr 8:138,125,471...138,187,209
Ensembl chr 8:138,125,280...138,149,364 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr20:119,824,380...119,865,866 JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr 1:626,060...631,556 JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:28492532 NCBI chr 1:9,474,539...9,490,612
Ensembl chr 1:9,475,622...9,491,500 		JBrowse link
G RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 More... NCBI chr 1:17,867,721...17,887,162
Ensembl chr 1:17,868,888...17,887,164 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:16199547 PMID:20583297 PMID:20839240 PMID:22473935 PMID:23553787 More... NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:15596759 PMID:18046642 PMID:19052238 PMID:19065518 PMID:19201608 More... NCBI chr16:57,273,143...57,331,677
Ensembl chr16:57,282,252...57,331,035 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Skeletal myopathy ClinVar PMID:25741868 PMID:26467025 PMID:28384794 PMID:28492532 PMID:28546994 More... NCBI chr 4:163,726...190,145 JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Skeletal myopathy ClinVar PMID:25741868 NCBI chr 8:20,229,756...20,233,568
Ensembl chr 8:20,230,870...20,234,020 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		JBrowse link
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:22345218 PMID:26224072 PMID:31125140 NCBI chr 5:52,202,040...52,272,428
Ensembl chr 5:52,204,605...52,243,017 		JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr 6:47,726,049...47,743,465
Ensembl chr 6:47,726,002...47,743,404 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr20:9,630,056...9,669,819
Ensembl chr20:9,638,678...9,653,039 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr 7:129,634,281...129,688,509
Ensembl chr 7:129,634,287...129,688,530 		JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr12:22,893,689...22,906,913
Ensembl chr12:22,894,886...22,896,847 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Skeletal myopathy ClinVar NCBI chr11:53,696,197...53,714,949
Ensembl chr11:53,696,228...53,708,957 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:18948003 PMID:22335739 PMID:23861362 PMID:23975875 PMID:24033266 More... NCBI chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205 		JBrowse link
G UNC45B unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 PMID:31852522 PMID:33217308 NCBI chr16:28,649,541...28,690,467 JBrowse link
Actin-Accumulation Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB10 ATP binding cassette subfamily B member 10 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:66,786,618...66,829,118
Ensembl chr25:66,786,484...66,828,916 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:1351946 PMID:4952447 PMID:9185179 PMID:9401010 PMID:9536098 More... NCBI chr25:66,700,448...66,703,325
Ensembl chr25:66,700,369...66,714,891 		JBrowse link
G AGT angiotensinogen ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324 		JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,251,110...68,271,530
Ensembl chr25:68,251,130...68,271,607 		JBrowse link
G CAPN9 calpain 9 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,018,785...68,072,299
Ensembl chr25:68,019,375...68,072,123 		JBrowse link
G COG2 component of oligomeric golgi complex 2 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:67,904,611...67,956,278
Ensembl chr25:67,904,638...67,956,435 		JBrowse link
G CUNH1orf198 chromosome unknown C1orf198 homolog ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,108,942...68,137,870
Ensembl chr25:68,106,262...68,137,838 		JBrowse link
G DISC1 DISC1 scaffold protein ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,886,451...69,274,774
Ensembl chr25:68,946,430...69,263,198 		JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,624,754...68,685,961
Ensembl chr25:68,625,260...68,682,804 		JBrowse link
G EXOC8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,594,174...68,599,236
Ensembl chr25:68,596,957...68,599,134 		JBrowse link
G FAM89A family with sequence similarity 89 member A ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,290,665...68,309,447
Ensembl chr25:68,291,575...68,309,411 		JBrowse link
G FSAF1 40S small subunit processome assembly factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,500,539...68,518,646
Ensembl chr25:68,500,233...68,519,096 		JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:67,324,572...67,543,035
Ensembl chr25:67,347,697...67,543,039 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,518,643...68,553,055
Ensembl chr25:68,518,300...68,553,767 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 NCBI chr26:18,507,709...18,511,025
Ensembl chr26:18,509,555...18,510,931 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:36,917,675...37,142,582 JBrowse link
G NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:66,710,468...66,777,672 JBrowse link
G PGBD5 piggyBac transposable element derived 5 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:67,581,074...67,686,624
Ensembl chr25:67,581,073...67,686,931 		JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:36,845,751...36,937,040
Ensembl chr10:36,845,777...36,907,015 		JBrowse link
G SPRTN SprT-like N-terminal domain ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,599,377...68,620,568
Ensembl chr25:68,599,780...68,620,621 		JBrowse link
G TAF5L TATA-box binding protein associated factor 5 like ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:66,859,264...66,892,877
Ensembl chr25:66,858,911...66,881,081 		JBrowse link
G TRIM67 tripartite motif containing 67 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,434,458...68,488,471
Ensembl chr25:68,434,543...68,487,727 		JBrowse link
G TSNAX translin associated factor X ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,787,717...68,826,751
Ensembl chr25:68,787,705...68,827,464 		JBrowse link
G TTC13 tetratricopeptide repeat domain 13 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:68,147,950...68,251,017 JBrowse link
G URB2 URB2 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr25:66,893,033...66,926,921
Ensembl chr25:66,893,112...66,929,487 		JBrowse link
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPIN1 lipin 1 ISO ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: LPIN1-related condition | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591397 PMID:18817903 More... NCBI chr14:95,777,976...95,926,420
Ensembl chr14:95,780,478...95,926,419 		JBrowse link
Adult-Onset Muscular Dystrophy with Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Muscular dystrophy, adult-onset, with leukoencephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More... NCBI chr 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080 		JBrowse link
Alcohol Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO RGD PMID:14506614 RGD:1581765 NCBI chr 5:26,165,370...26,196,517
Ensembl chr 5:26,164,205...26,193,172 		JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC16A2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy | ClinVar Annotator: match by term: SLC16A2-related condition OMIM
ClinVar		 PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chr  X:64,023,846...64,123,428
Ensembl chr  X:64,023,327...64,125,422 		JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility ISO ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)		 OMIM
ClinVar
RGD		 PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:15039298 NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 6:358,865...377,007
Ensembl chr 6:358,917...377,089 		JBrowse link
G RANBP2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr29:7,756,742...7,769,061
Ensembl chr29:7,757,158...7,765,777 		JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism: :HLA-DQA1*0501;		 RGD PMID:8666549 PMID:15067086 PMID:18671865 RGD:5147790 RGD:5147796 RGD:8547569 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871 		JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MATR3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2 OMIM
ClinVar		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr23:41,955,451...41,992,280
Ensembl chr23:41,969,459...41,994,233 		JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1B interleukin 1 beta ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar PMID:18550579 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar PMID:21506741 PMID:21506748 PMID:23321605 PMID:23692170 PMID:23695349 More... NCBI chr 1:1,040,756...1,083,246
Ensembl chr 1:1,042,110...1,081,240 		JBrowse link
autosomal dominant centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:2734399 PMID:16199547 PMID:16227997 PMID:17008356 PMID:17825552 More... NCBI chr 6:9,718,014...9,830,061
Ensembl chr 6:9,718,244...9,831,206 		JBrowse link
G LOC103239432 myoblast determination protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr 1:47,250,927...47,254,572
Ensembl chr 1:47,251,551...47,253,284 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:125,151,279...125,250,816
Ensembl chr  X:125,174,289...125,249,588 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF ClinVar PMID:17008356 PMID:19590496 PMID:25741868 PMID:28492532 NCBI chr22:45,650,544...45,704,237
Ensembl chr22:45,650,556...45,713,176 		JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:9536098 PMID:11053684 PMID:17576681 PMID:25741868 PMID:28053302 More... NCBI chr11:76,180,919...76,183,910
Ensembl chr11:76,182,151...76,183,992 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr11:75,717,176...75,882,627
Ensembl chr11:75,729,405...75,881,334 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr11:75,300,278...75,461,498
Ensembl chr11:75,319,962...75,461,438 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:105,330,171...105,388,657
Ensembl chr10:105,330,171...105,387,810 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY		 OMIM
ClinVar		 PMID:262236 PMID:1849984 PMID:2007407 PMID:2338570 PMID:2526018 More... NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar PMID:25741868 NCBI chr24:41,054,609...41,443,067
Ensembl chr24:41,054,621...41,443,436 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr13:79,572,233...80,104,951
Ensembl chr13:79,572,936...79,988,893 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar Annotator: match by term: SYNE2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17761684 PMID:18414213 More... NCBI chr24:41,054,609...41,443,067
Ensembl chr24:41,054,621...41,443,436 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant OMIM
ClinVar		 PMID:18230648 PMID:18313022 PMID:18414213 PMID:20435227 PMID:21214875 More... NCBI chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648 		JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103231478 myosin-6 ISO ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS ClinVar PMID:25741868 NCBI chr29:23,753,251...23,780,822
Ensembl chr29:23,753,309...23,778,107 		JBrowse link
G LOC103231480 myosin-7 ISO ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant | ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS | ClinVar Annotator: match by term: MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT		 OMIM
ClinVar		 PMID:177788 PMID:564455 PMID:737223 PMID:901918 PMID:1423936 More... NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771 		JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 1 OMIM
ClinVar		 PMID:8533766 PMID:9536098 PMID:9973293 PMID:10489050 PMID:17576681 More... NCBI chr21:125,455,782...125,544,495
Ensembl chr21:125,469,957...125,544,820 		JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1F ATPase H+ transporting V1 subunit F ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr21:97,464,741...97,467,749
Ensembl chr21:97,464,146...97,468,370 		JBrowse link
G CALU calumenin ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr21:97,338,875...97,370,947
Ensembl chr21:97,338,913...97,373,156 		JBrowse link
G CCDC136 coiled-coil domain containing 136 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr21:97,392,611...97,423,457 JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr21:97,431,666...97,460,178
Ensembl chr21:97,431,648...97,461,135 		JBrowse link
G IRF5 interferon regulatory factor 5 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr21:97,536,803...97,549,576
Ensembl chr21:97,537,790...97,549,945 		JBrowse link
G KCP kielin cysteine rich BMP regulator ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr21:97,479,087...97,510,949 JBrowse link
G OPN1SW opsin 1, short wave sensitive ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr21:97,370,824...97,377,433
Ensembl chr21:97,372,863...97,376,406 		JBrowse link
G TNPO3 transportin 3 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F OMIM
ClinVar		 PMID:9536098 PMID:11222786 PMID:16199547 PMID:17576681 PMID:23543484 More... NCBI chr21:97,554,484...97,654,289
Ensembl chr21:97,553,519...97,653,889 		JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G OMIM
ClinVar		 PMID:9536098 PMID:15367920 PMID:17576681 PMID:24647604 PMID:25741868 More... NCBI chr 7:30,804,807...30,810,539
Ensembl chr 7:30,805,749...30,810,720 		JBrowse link
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: CAPN3-related disorder | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 OMIM
ClinVar		 PMID:2725975 PMID:3258171 PMID:7318636 PMID:7720071 PMID:7762565 More... NCBI chr26:40,568,320...40,657,443
Ensembl chr26:40,568,885...40,625,597 		JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 OMIM
ClinVar		 PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:9536098 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM
ClinVar		 PMID:8644740 PMID:9207786 PMID:10364542 PMID:10926541 PMID:11756613 More... NCBI chr 7:131,102,077...131,106,076 JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 OMIM
ClinVar		 PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ClinVar PMID:9536098 PMID:16685652 PMID:17576681 PMID:19513667 PMID:21138766 More... NCBI chr16:56,799,089...56,827,030
Ensembl chr16:56,809,159...56,826,567 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 OMIM
ClinVar		 PMID:9536098 PMID:16685652 PMID:17576681 PMID:19513667 PMID:21138766 More... NCBI chr16:56,773,867...56,794,571
Ensembl chr16:56,776,330...56,794,654 		JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 OMIM
ClinVar		 PMID:8130196 PMID:12859174 PMID:17486094 PMID:18504129 PMID:19664747 More... NCBI chr 8:97,055,111...97,091,980 JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy OMIM
ClinVar		 PMID:23352259 PMID:25741868 PMID:28492532 PMID:31478350 NCBI chr 9:62,926,221...62,985,843
Ensembl chr 9:62,926,674...62,985,842 		JBrowse link
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 ISO ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 PMID:28492532 NCBI chr10:3,112,605...3,173,522
Ensembl chr10:3,113,868...3,173,620 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:105,330,171...105,388,657
Ensembl chr10:105,330,171...105,387,810 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205 		JBrowse link
autosomal recessive distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 7 | ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features OMIM
ClinVar		 PMID:25741868 PMID:33459760 PMID:33559681 PMID:37712079 NCBI chr20:130,016,802...130,023,138
Ensembl chr20:130,014,754...130,021,822 		JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM
ClinVar		 PMID:2007407 PMID:2733290 PMID:4684700 PMID:9500556 PMID:10580070 More... NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103231480 myosin-7 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive OMIM
ClinVar		 PMID:177788 PMID:564455 PMID:737223 PMID:901918 PMID:1423936 More... NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:9536098 PMID:9673985 PMID:17008331 PMID:17576681 PMID:18414213 More... NCBI chr 1:42,722,072...42,823,340
Ensembl chr 1:42,722,015...42,822,374 		JBrowse link
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:23541687 PMID:25351777 PMID:25741868 PMID:28492532 PMID:29921608 More... NCBI chr12:22,176,073...23,155,638
Ensembl chr12:22,177,637...23,156,979 		JBrowse link
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:3258171 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 More... NCBI chr26:40,568,320...40,657,443
Ensembl chr26:40,568,885...40,625,597 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:2764718 PMID:9536098 PMID:10766988 PMID:11257469 PMID:12796534 More... NCBI chr14:35,488,393...35,715,222
Ensembl chr14:35,488,391...35,651,395 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive		 ClinVar PMID:10838249 PMID:11592034 PMID:11741828 PMID:12666124 PMID:12707425 More... NCBI chr 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive		 ClinVar PMID:9536098 PMID:11102973 PMID:12920062 PMID:15475483 PMID:15998779 More... NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy ClinVar PMID:25741868 NCBI chr 8:138,125,471...138,187,209
Ensembl chr 8:138,125,280...138,149,364 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:15938569 More... NCBI chr20:86,588,049...86,597,576
Ensembl chr20:86,588,550...86,599,107 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:1236901 PMID:12369018 PMID:14678799 PMID:15522202 PMID:15637732 More... NCBI chr12:6,620,179...6,639,051
Ensembl chr12:6,618,312...6,639,024 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:15894594 PMID:16199547 PMID:17878207 PMID:17923109 PMID:18414213 More... NCBI chr24:54,519,980...54,567,584
Ensembl chr24:54,519,754...54,567,584 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:3,217,640...3,323,801
Ensembl chr 3:3,216,397...3,323,754 		JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive		 ClinVar PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... NCBI chr16:43,160,402...43,173,368
Ensembl chr16:43,160,401...43,170,109 		JBrowse link
G SGCB sarcoglycan beta ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:7581449 PMID:8968749 PMID:9032047 PMID:9565988 PMID:9631401 More... NCBI chr 7:16,400,865...16,418,955
Ensembl chr 7:16,405,641...16,415,727 		JBrowse link
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:10974018 PMID:12794684 PMID:18414213 PMID:23861362 PMID:24033266 More... NCBI chr23:58,095,013...59,177,752 JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:9673983 PMID:16199547 PMID:16832103 PMID:18285821 PMID:18414213 More... NCBI chr 3:3,117,708...3,216,776
Ensembl chr 3:3,135,446...3,215,553 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy ClinVar PMID:23830518 PMID:26322222 PMID:28327206 PMID:28492532 PMID:30105108 NCBI chr 7:129,634,281...129,688,509
Ensembl chr 7:129,634,287...129,688,530 		JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:23541687 PMID:25351777 PMID:25741868 PMID:28492532 PMID:29921608 More... NCBI chr12:22,893,689...22,906,913
Ensembl chr12:22,894,886...22,896,847 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive ClinVar PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:15938569 More... NCBI chr20:86,599,933...86,613,244
Ensembl chr20:86,599,214...86,605,426 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive		 ClinVar PMID:9536098 PMID:17576681 PMID:22335739 PMID:22526018 PMID:23396983 More... NCBI chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205 		JBrowse link
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy ClinVar NCBI chr12:6,612,306...6,634,326
Ensembl chr12:6,612,378...6,618,968 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 ClinVar PMID:25741868 NCBI chr  X:128,285,128...128,309,173
Ensembl chr  X:128,285,130...128,299,570 		JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 OMIM
ClinVar		 PMID:8957020 PMID:9158149 PMID:9536098 PMID:9541105 PMID:9674786 More... NCBI chr13:44,074,128...44,688,187
Ensembl chr13:44,073,525...44,531,889 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 ClinVar PMID:9536098 PMID:17576681 PMID:23830518 PMID:25741868 PMID:28492532 More... NCBI chr 7:129,634,281...129,688,509
Ensembl chr 7:129,634,287...129,688,530 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POPDC3 popeye domain cAMP effector 3 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 OMIM
ClinVar		 PMID:31610034 PMID:35075722 PMID:35842834 PMID:37104941 NCBI chr13:68,630,236...68,652,699
Ensembl chr13:68,648,685...68,652,710 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG2 jagged canonical Notch ligand 2 ISO ClinVar Annotator: match by term: JAG2-related condition | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 27 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33861953 NCBI chr24:83,050,412...83,081,982
Ensembl chr24:83,051,368...83,076,820 		JBrowse link
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNUPN snurportin 1 ISO OMIM NCBI chr26:7,806,698...7,835,477 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A OMIM
ClinVar		 PMID:1691480 PMID:2725975 PMID:3258171 PMID:7318636 PMID:7720071 More... NCBI chr26:40,568,320...40,657,443
Ensembl chr26:40,568,885...40,625,597 		JBrowse link
G CLASP1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A ClinVar PMID:25326637 PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 More... NCBI chr10:8,639,245...8,946,935
Ensembl chr10:8,639,196...8,946,968 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 1:117,394,426...117,404,692
Ensembl chr 1:117,394,587...117,404,258 		JBrowse link
G GANC glucosidase alpha, neutral C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A ClinVar PMID:10330340 PMID:15689361 PMID:28492532 NCBI chr26:40,670,906...40,721,381 JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Calpainopathy ClinVar PMID:25500235 PMID:25741868 PMID:26820064 PMID:27854218 PMID:28492532 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:31263448 NCBI chr26:40,568,320...40,657,443
Ensembl chr26:40,568,885...40,625,597 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 OMIM
ClinVar		 PMID:1483054 PMID:1707005 PMID:2606004 PMID:2764718 PMID:2766772 More... NCBI chr14:35,488,393...35,715,222
Ensembl chr14:35,488,391...35,651,395 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3		 ClinVar PMID:16199547 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr23:31,204,652...31,476,677
Ensembl chr23:31,204,391...31,475,820 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:18585512 PMID:18926329 PMID:25741868 PMID:28492532 PMID:31263448 NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		JBrowse link
G VDR vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIPEP mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C ClinVar PMID:9673983 PMID:18285821 PMID:19770540 PMID:22095924 PMID:28492532 NCBI chr 3:3,578,057...3,726,783
Ensembl chr 3:3,578,193...3,726,746 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C ClinVar PMID:9673983 PMID:16832103 PMID:18285821 PMID:18398442 PMID:18414213 More... NCBI chr 3:3,217,640...3,323,801
Ensembl chr 3:3,216,397...3,323,754 		JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Maghrebian myopathy | ClinVar Annotator: match by term: SGCG-related condition OMIM
ClinVar		 PMID:1303286 PMID:7481775 PMID:8923014 PMID:8968757 PMID:9536098 More... NCBI chr 3:3,117,708...3,216,776
Ensembl chr 3:3,135,446...3,215,553 		JBrowse link
G TNFRSF19 TNF receptor superfamily member 19 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C ClinVar PMID:9673983 PMID:18285821 PMID:19770540 PMID:22095924 PMID:28492532 NCBI chr 3:3,429,290...3,535,841
Ensembl chr 3:3,429,545...3,536,370 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D ClinVar PMID:25106685 PMID:28492532 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200 		JBrowse link
G LOC103238261 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D ClinVar PMID:17584854 PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 More... NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:3,217,640...3,323,801
Ensembl chr 3:3,216,397...3,323,754 		JBrowse link
G SGCA sarcoglycan alpha treatment ISO ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY | ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Sarcoglycanopathy OMIM
ClinVar
RGD		 PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... RGD:13605612 NCBI chr16:43,160,402...43,173,368
Ensembl chr16:43,160,401...43,170,109 		JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:3,117,708...3,216,776
Ensembl chr 3:3,135,446...3,215,553 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCB sarcoglycan beta treatment ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E | ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Beta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 OMIM
ClinVar
RGD		 PMID:7581448 PMID:7581449 PMID:8968749 PMID:9032047 PMID:9536098 More... RGD:13605613 NCBI chr 7:16,400,865...16,418,955
Ensembl chr 7:16,405,641...16,415,727 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGCD sarcoglycan delta ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: Delta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC | ClinVar Annotator: match by term: Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency OMIM
ClinVar		 PMID:8841194 PMID:9536098 PMID:9832045 PMID:10735275 PMID:10838250 More... NCBI chr23:58,095,013...59,177,752 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCAP titin-cap ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G OMIM
ClinVar		 PMID:10655062 PMID:15582318 PMID:16352453 PMID:16911908 PMID:17097056 More... NCBI chr16:66,500,535...66,503,455
Ensembl chr16:66,500,949...66,501,703 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2H | ClinVar Annotator: match by term: Muscular dystrophy Hutterite type | ClinVar Annotator: match by term: Sarcotubular myopathy | ClinVar Annotator: match by term: TRIM32-related condition ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr12:22,176,073...23,155,638
Ensembl chr12:22,177,637...23,156,979 		JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2H | ClinVar Annotator: match by term: Muscular dystrophy Hutterite type | ClinVar Annotator: match by term: Sarcotubular myopathy | ClinVar Annotator: match by term: TRIM32-related condition OMIM
ClinVar		 PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr12:22,893,689...22,906,913
Ensembl chr12:22,894,886...22,896,847 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein treatment ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED OMIM
ClinVar
RGD		 PMID:10838249 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 More... RGD:11667961 NCBI chr 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I ClinVar PMID:25741868 PMID:32190976 PMID:36543139 PMID:36651276 NCBI chr 6:40,073,924...40,100,822
Ensembl chr 6:40,075,007...40,100,885 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J ClinVar PMID:25741868 PMID:26467025 PMID:27153395 PMID:27854218 PMID:28492532 More... NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J ClinVar PMID:18678517 PMID:23861362 PMID:24033266 PMID:24704780 PMID:25637381 More... NCBI chr18:49,596,870...49,637,587
Ensembl chr18:49,599,940...49,639,526 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr11:4,679,998...4,718,346
Ensembl chr11:4,680,053...4,721,520 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Autosomal recessive titinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 OMIM
ClinVar		 PMID:1745277 PMID:9536098 PMID:9804419 PMID:10053013 PMID:10462489 More... NCBI chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734 		JBrowse link
G AIF1L allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:7,016,619...7,043,663
Ensembl chr12:7,016,398...7,043,575 		JBrowse link
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:7,441,812...7,452,979
Ensembl chr12:7,442,791...7,452,964 		JBrowse link
G FAM78A family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:6,862,627...6,881,942
Ensembl chr12:6,863,189...6,881,991 		JBrowse link
G FIBCD1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:7,205,830...7,246,315
Ensembl chr12:7,206,456...7,242,528 		JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:7,048,396...7,134,405 JBrowse link
G LOC103239735 inactive phospholipid phosphatase 7 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:6,832,015...6,850,313
Ensembl chr12:6,832,283...6,849,598 		JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:6,905,047...7,014,907
Ensembl chr12:6,903,096...7,014,887 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K OMIM
ClinVar		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr12:6,620,179...6,639,051
Ensembl chr12:6,618,312...6,639,024 		JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:7,460,614...7,477,453
Ensembl chr12:7,462,142...7,477,403 		JBrowse link
G PRRC2B proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:6,643,975...6,767,834
Ensembl chr12:6,646,394...6,713,044 		JBrowse link
G QRFP pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr12:7,247,841...7,256,677 JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L OMIM
ClinVar		 PMID:9536098 PMID:9673985 PMID:16199547 PMID:17008331 PMID:17132147 More... NCBI chr 1:42,722,072...42,823,340
Ensembl chr 1:42,722,015...42,822,374 		JBrowse link
G FKTN fukutin ISO DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) RGD PMID:17044012 RGD:11576328 NCBI chr12:33,872,165...33,964,105
Ensembl chr12:33,900,362...33,953,377 		JBrowse link
G LOC103235292 troponin I, cardiac muscle ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L ClinVar PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:20641121 More... NCBI chr 6:47,746,293...47,752,118
Ensembl chr 6:47,745,386...47,752,204 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:25326637 PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 OMIM
ClinVar		 PMID:10545611 PMID:11165248 PMID:14627679 PMID:17034757 PMID:17044012 More... NCBI chr12:33,872,165...33,964,105
Ensembl chr12:33,900,362...33,953,377 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 ClinVar PMID:18487244 PMID:21301859 PMID:21880868 PMID:22000311 PMID:22114710 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:17559086 PMID:17576681 PMID:17634419 More... NCBI chr24:54,519,980...54,567,584
Ensembl chr24:54,519,754...54,567,584 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LURAP1 leucine rich adaptor protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O ClinVar PMID:19299310 PMID:20816175 PMID:21447391 PMID:26908613 PMID:27391550 More... NCBI chr20:86,566,427...86,583,741
Ensembl chr20:86,566,551...86,583,175 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr20:86,588,049...86,597,576
Ensembl chr20:86,588,550...86,599,107 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr20:86,599,933...86,613,244
Ensembl chr20:86,599,214...86,605,426 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,813,601...10,820,628
Ensembl chr22:10,814,358...10,819,632 		JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532
G CIMIP7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,579,771...10,594,148
Ensembl chr22:10,579,776...10,593,388 		JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,660,873...10,672,712
Ensembl chr22:10,666,310...10,671,639 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P OMIM
ClinVar		 PMID:9536098 PMID:10875918 PMID:14678799 PMID:17576681 PMID:20234391 More... NCBI chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,415,833...10,419,492
Ensembl chr22:10,411,353...10,419,770 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,754,976...10,756,617 JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,593,516...10,653,519 JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,424,646...10,429,917
Ensembl chr22:10,421,996...10,429,662 		JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,573,720...10,578,629
Ensembl chr22:10,574,769...10,578,674 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,523,763...10,535,733
Ensembl chr22:10,523,717...10,536,207 		JBrowse link
G LOC103227611 ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,318,252...10,319,365 JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,421,359...10,423,626
Ensembl chr22:10,421,996...10,423,510 		JBrowse link
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,821,663...10,825,405
Ensembl chr22:10,820,757...10,825,462 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,387,828...10,407,476
Ensembl chr22:10,388,932...10,407,507 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,497,921...10,507,673
Ensembl chr22:10,497,658...10,507,325 		JBrowse link
G QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,430,015...10,496,127
Ensembl chr22:10,430,774...10,478,690 		JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,261,772...10,300,878
Ensembl chr22:10,261,634...10,300,778 		JBrowse link
G TCTA T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,809,342...10,813,655
Ensembl chr22:10,809,595...10,812,029 		JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,510,554...10,523,576
Ensembl chr22:10,510,423...10,523,487 		JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,672,920...10,735,374
Ensembl chr22:10,672,388...10,732,104 		JBrowse link
G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr22:10,407,421...10,416,295
Ensembl chr22:10,407,703...10,415,633 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEC plectin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 OMIM
ClinVar		 PMID:9536098 PMID:10652002 PMID:11851880 PMID:15206692 PMID:15810881 More... NCBI chr 8:138,125,471...138,187,209
Ensembl chr 8:138,125,280...138,149,364 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2S | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: TRAPPC11-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23830518 PMID:24033266 More... NCBI chr 7:129,634,281...129,688,509
Ensembl chr 7:129,634,287...129,688,530 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2T | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 OMIM
ClinVar		 PMID:16199547 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 More... NCBI chr22:11,116,497...11,118,980
Ensembl chr22:11,116,752...11,118,926 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U OMIM
ClinVar		 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 More... NCBI chr21:41,691,771...42,008,484
Ensembl chr21:41,691,912...42,010,301 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr10:3,112,605...3,173,522
Ensembl chr10:3,113,868...3,173,620 		JBrowse link
G CYP27C1 cytochrome P450 family 27 subfamily C member 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr10:2,998,621...3,035,268 JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr10:2,926,410...2,963,802
Ensembl chr10:2,926,350...2,963,823 		JBrowse link
G GPR17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:25741868 PMID:28492532 NCBI chr10:2,564,156...2,571,442 JBrowse link
G IWS1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr10:2,688,690...2,747,457
Ensembl chr10:2,689,031...2,734,828 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W | ClinVar Annotator: match by term: Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25589244 PMID:25741868 More... NCBI chr10:2,540,383...2,578,117
Ensembl chr10:2,543,091...2,579,332 		JBrowse link
G MAP3K2 mitogen-activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr10:2,831,265...2,921,782
Ensembl chr10:2,831,270...2,912,897 		JBrowse link
G MYO7B myosin VIIB ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr10:2,578,211...2,657,617 JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POPDC1 popeye domain cAMP effector 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X | ClinVar Annotator: match by term: BVES-related condition OMIM