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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;   NCI:C101216;   OMIM:PS160565
For additional species annotation, visit the Alliance of Genome Resources.


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 chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748 		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 chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		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 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr15:33,370,093...33,465,852
Ensembl chr15:33,370,126...33,446,598 		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 chr 1:256,825,466...257,740,676
Ensembl chr 1:256,825,486...257,740,977 		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 chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782 		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 chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G CASQ1 calsequestrin 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:90,276,752...90,288,990
Ensembl chr 4:90,276,757...90,288,250 		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 chr18:6,902,540...6,941,530
Ensembl chr18:6,902,542...6,940,449 		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...
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,422...159,061,327 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		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 chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		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 chr 1:235,790,657...235,799,385
Ensembl chr 1:235,790,749...235,799,381 		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 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr 4:94,661,568...94,662,223
Ensembl chr 4:94,661,873...94,662,151 		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
G DYSF dysferlin ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr 8:47,608,499...47,655,889
Ensembl chr 8:47,608,772...47,657,436 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:20886638 PMID:25741868 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		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 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		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 chr12:2,315,807...2,339,867
Ensembl chr12:2,314,591...2,336,988 		JBrowse link
G ISCU iron-sulfur cluster assembly enzyme ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:28492532 NCBI chr14:42,216,103...42,222,570
Ensembl chr14:42,216,111...42,222,711 		JBrowse link
G LOC100623720 collagen alpha-1(VI) chain ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:16199547 PMID:18366090 PMID:20976770 PMID:21280092 PMID:25635128 More... NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:32581362 NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299 		JBrowse link
G MYH2 myosin, heavy chain 2, skeletal muscle, adult ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr12:55,252,974...55,278,820 JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:15358028 PMID:16938236 PMID:19149795 PMID:20975235 PMID:22958901 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456 		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 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:28492532 NCBI chr 2:7,409,330...7,421,256
Ensembl chr 2:7,409,116...7,421,254 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:1256913 PMID:12467748 PMID:12565913 PMID:14670767 PMID:15731587 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		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 chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		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 chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Skeletal myopathy ClinVar PMID:25741868 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867 		JBrowse link
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:22345218 PMID:26224072 PMID:31125140 NCBI chr 6:27,226,421...27,255,645
Ensembl chr 6:27,226,425...27,255,574 		JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr 6:59,351,445...59,365,584
Ensembl chr 6:59,347,582...59,365,284 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Myopathy ClinVar NCBI chr15:44,989,636...45,040,766
Ensembl chr15:44,989,636...45,040,761 		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 chr 1:257,051,421...257,066,911
Ensembl chr 1:257,054,228...257,066,909 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Skeletal myopathy ClinVar NCBI chr 5:23,073,087...23,087,029
Ensembl chr 5:23,072,808...23,097,915 		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 chr15:84,226,953...84,501,320 JBrowse link
G UNC45B unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Myopathy ClinVar PMID:25741868 PMID:31852522 PMID:33217308 NCBI chr12:39,997,254...40,031,368
Ensembl chr12:39,994,194...40,030,966 		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 chr14:60,309,893...60,346,283
Ensembl chr14:60,309,931...60,346,280 		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 chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
G AGT angiotensinogen ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,396,958...59,409,008
Ensembl chr14:59,396,962...59,408,958 		JBrowse link
G C14H1orf131 chromosome 14 C1orf131 homolog ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,240,343...59,257,168
Ensembl chr14:59,240,514...59,258,838 		JBrowse link
G C14H1orf198 chromosome 14 C1orf198 homolog ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,516,754...59,553,705
Ensembl chr14:59,515,877...59,552,288 		JBrowse link
G CAPN9 calpain 9 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,581,999...59,623,553
Ensembl chr14:59,582,046...59,623,376 		JBrowse link
G COG2 component of oligomeric golgi complex 2 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,661,762...59,704,006
Ensembl chr14:59,661,768...59,704,008 		JBrowse link
G DISC1 DISC1 scaffold protein ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:58,606,441...58,963,954
Ensembl chr14:58,606,464...58,963,563 		JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,113,527...59,168,421
Ensembl chr14:59,113,844...59,168,395 		JBrowse link
G EXOC8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,192,345...59,197,550
Ensembl chr14:59,192,434...59,197,542 		JBrowse link
G FAM89A family with sequence similarity 89 member A ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,367,745...59,388,793
Ensembl chr14:59,367,739...59,388,749 		JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,961,255...60,141,379
Ensembl chr14:59,961,259...60,141,261 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,203,519...59,240,303
Ensembl chr14:59,203,090...59,241,247 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 NCBI chr 1:163,113,280...163,116,889
Ensembl chr 1:163,113,324...163,116,887 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:546,187...766,131
Ensembl chr15:546,173...766,125 		JBrowse link
G NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:60,353,420...60,404,952
Ensembl chr14:60,353,474...60,408,828 		JBrowse link
G PGBD5 piggyBac transposable element derived 5 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,842,653...59,935,025
Ensembl chr14:59,842,468...59,935,021 		JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:769,518...832,036
Ensembl chr15:774,191...832,010 		JBrowse link
G SPRTN SprT-like N-terminal domain ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,177,801...59,192,221
Ensembl chr14:59,171,192...59,192,269 		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 chr14:60,254,502...60,286,368
Ensembl chr14:60,255,375...60,286,349 		JBrowse link
G TRIM67 tripartite motif containing 67 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,260,070...59,303,244
Ensembl chr14:59,260,065...59,302,591 		JBrowse link
G TSNAX translin associated factor X ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,027,295...59,058,300
Ensembl chr14:59,024,034...59,058,308 		JBrowse link
G TTC13 tetratricopeptide repeat domain 13 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:59,409,128...59,491,966
Ensembl chr14:59,409,123...59,509,549 		JBrowse link
G URB2 URB2 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr14:60,229,026...60,254,462
Ensembl chr14:60,229,112...60,254,974 		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: Myoglobinuria, acute recurrent, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591397 PMID:18817903 More... NCBI chr 3:124,940,557...125,074,137
Ensembl chr 3:124,940,561...125,074,122 		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 chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773 		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 chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		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 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708 		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 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310 		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 OMIM
ClinVar		 PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chr  X:59,748,685...59,861,018
Ensembl chr  X:59,748,745...59,861,015 		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 chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109 		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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		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 chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		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 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 chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 2:77,694,271...77,708,099
Ensembl chr 2:77,694,266...77,708,096 		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 chr 7:54,783,965...54,800,008
Ensembl chr 7:54,776,113...54,889,014 		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 chr 2:141,179,515...141,230,259
Ensembl chr 2:141,179,566...141,231,015 		JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110258578 interleukin-1 beta-like ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar PMID:18550579 PMID:25741868
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 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299 		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 chr13:65,948,520...65,994,231
Ensembl chr13:65,948,544...65,994,820 		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:28492532 NCBI chr 5:100,762,918...100,764,771
Ensembl chr 5:100,762,917...100,764,773 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr 5:101,099,525...101,318,254
Ensembl chr 5:101,100,282...101,251,884 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr 5:101,490,282...101,639,456
Ensembl chr 5:101,490,341...101,639,429 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334 		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 chr15:121,443,976...121,501,453 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 chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		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 chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		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 chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		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 chr 1:13,715,644...14,201,711 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, autosomal dominant | ClinVar Annotator: match by term: SYNE2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17761684 PMID:18414213 More... NCBI chr 1:193,909,563...194,352,550
Ensembl chr 1:193,911,965...194,264,354 		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:21391237 More... NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant ClinVar NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT | 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:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		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 chr18:1,444,737...1,499,904
Ensembl chr18:1,444,739...1,499,887 		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 chr18:19,753,761...19,756,706
Ensembl chr18:19,753,506...19,756,648 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		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 chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243 		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 chr18:19,689,111...19,741,641
Ensembl chr18:19,711,112...19,741,637 		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 chr18:19,572,555...19,673,165
Ensembl chr18:19,572,776...19,673,163 		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 8:135,802,530...135,809,871
Ensembl chr 8:135,802,896...135,809,862 		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: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 OMIM
ClinVar		 PMID:3258171 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 More... NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		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, AUTOSOMAL DOMINANT 1 | 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 chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		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:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		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 chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		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:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		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 chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		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:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr12:14,612,177...14,637,946
Ensembl chr12:14,612,183...14,636,811 		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:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,570 		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:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 More... NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		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 chr14:71,550,405...71,607,067
Ensembl chr14:71,552,121...71,610,740 		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 chr15:25,328,679...25,379,675
Ensembl chr15:25,328,674...25,383,652 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:121,443,976...121,501,453 JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr15:84,226,953...84,501,320 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 NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		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:2526018 PMID:2733290 PMID:4684700 PMID:9500556 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
autosomal recessive hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 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:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		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 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		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 chr 1:256,825,466...257,740,676
Ensembl chr 1:256,825,486...257,740,977 		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 chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		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:9536098 PMID:10766988 PMID:11257469 PMID:12796534 PMID:14678801 More... NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		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 PMID:10838249 PMID:11741828 PMID:12666124 PMID:12707425 PMID:12707439 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G LMNA lamin A/C ISO 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 chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy ClinVar PMID:25741868 NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		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 chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		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:12369018 PMID:14678799 PMID:15522202 PMID:15637732 PMID:15733261 More... NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		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:18414213 PMID:24183756 PMID:25741868 PMID:27457812 More... NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		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 chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy ClinVar PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,777...26,371,600 		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 8:39,130,371...39,148,756
Ensembl chr 8:39,127,545...39,148,814 		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 chr16:66,447,982...67,481,709
Ensembl chr16:66,452,178...66,887,924 		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:18285821 PMID:18414213 PMID:19770540 More... NCBI chr11:2,310,280...2,380,054 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 chr15:44,989,636...45,040,766
Ensembl chr15:44,989,636...45,040,761 		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 chr 1:257,051,421...257,066,911
Ensembl chr 1:257,054,228...257,066,909 		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 chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:22335739 PMID:22526018 PMID:23396983 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy ClinVar NCBI chr 1:271,448,362...271,453,811
Ensembl chr 1:271,448,365...271,453,816 		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:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		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 chr 1:33,765,412...34,359,741
Ensembl chr 1:33,866,850...34,359,698 		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 chr15:44,989,636...45,040,766
Ensembl chr15:44,989,636...45,040,761 		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 containing 3 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 OMIM
ClinVar		 PMID:31610034 NCBI chr 1:71,380,760...71,400,134
Ensembl chr 1:71,380,770...71,400,191 		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: Muscular dystrophy, limb-girdle, autosomal recessive 27 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33861953
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: Leyden-Moebius muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A OMIM
ClinVar		 PMID:1691480 PMID:3258171 PMID:7318636 PMID:7720071 PMID:7762565 More... NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		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 chr 1:129,021,114...129,098,313
Ensembl chr 1:129,021,115...129,098,269 		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 chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		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 chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B ClinVar PMID:25741868 PMID:26467025 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		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 chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		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 chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
G VDR vitamin D receptor ISO protein:increased expression:muscle: RGD PMID:27558075 RGD:13210781 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		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:18285821 PMID:28492532 NCBI chr11:2,675,604...2,790,760
Ensembl chr11:2,670,000...2,790,727 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C ClinVar PMID:18285821 PMID:18398442 PMID:18414213 PMID:19031088 PMID:19208398 More... NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		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: Limb-girdle muscular dystrophy, type 2C OMIM
ClinVar		 PMID:1303286 PMID:7481775 PMID:8923014 PMID:8968757 PMID:9536098 More... NCBI chr11:2,310,280...2,380,054 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:18285821 PMID:28492532 NCBI chr11:2,469,306...2,640,737
Ensembl chr11:2,543,812...2,640,736 		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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		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 chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		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 chr12:26,356,691...26,368,561
Ensembl chr12:26,356,777...26,371,600 		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 chr11:2,310,280...2,380,054 JBrowse link
G TUBA1A tubulin alpha 1a 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 chr 5:15,186,059...15,190,211
Ensembl chr 5:15,185,532...15,190,428 		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 8:39,130,371...39,148,756
Ensembl chr 8:39,127,545...39,148,814 		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 OMIM
ClinVar		 PMID:8841194 PMID:9536098 PMID:9832045 PMID:10735275 PMID:10838250 More... NCBI chr16:66,447,982...67,481,709
Ensembl chr16:66,452,178...66,887,924 		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 chr12:22,651,666...22,652,904
Ensembl chr12:22,651,664...22,653,722 		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: Sarcotubular myopathy | ClinVar Annotator: match by term: TRIM32-related condition ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 1:256,825,466...257,740,676
Ensembl chr 1:256,825,486...257,740,977 		JBrowse link
G TRIM32 tripartite motif containing 32 ISO 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 chr 1:257,051,421...257,066,911
Ensembl chr 1:257,054,228...257,066,909 		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 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I ClinVar PMID:25741868 NCBI chr 6:52,601,934...52,627,910
Ensembl chr 6:52,601,938...52,627,902 		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 DSP desmoplakin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		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 chr 5:65,760,078...65,788,703
Ensembl chr 5:65,759,727...65,788,646 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | 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 chr15:84,226,953...84,501,320 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 chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		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 chr 1:271,075,376...271,099,984
Ensembl chr 1:271,072,734...271,102,803 		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 chr 1:270,748,534...270,757,717
Ensembl chr 1:270,748,537...270,758,111 		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 chr 1:271,242,312...271,257,839
Ensembl chr 1:271,242,333...271,257,836 		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 chr 1:270,919,793...270,956,753
Ensembl chr 1:270,918,251...270,956,347 		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 chr 1:271,004,423...271,071,223
Ensembl chr 1:271,004,433...271,071,223 		JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 1:271,103,838...271,210,292
Ensembl chr 1:271,104,033...271,210,288 		JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K ClinVar PMID:28492532 NCBI chr 1:271,268,843...271,283,657
Ensembl chr 1:271,268,870...271,283,655 		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:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		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 chr 1:270,723,880...270,739,468
Ensembl chr 1:270,723,681...270,739,468 		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 chr 1:271,336,780...271,430,936
Ensembl chr 1:271,336,818...271,430,916 		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 chr 1:270,909,323...270,917,674
Ensembl chr 1:270,911,878...270,912,282 		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 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		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 chr 1:246,852,387...246,916,650 JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L ClinVar PMID:25326637 PMID:25741868 PMID:26741492 PMID:28492532 PMID:30642748 More... NCBI chr 4:41,619,480...41,655,682
Ensembl chr 4:41,621,174...41,655,792 		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:17044012 PMID:17597323 More... NCBI chr 1:246,852,387...246,916,650 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 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 chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		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 chr 6:165,187,707...165,208,191
Ensembl chr 6:165,188,925...165,207,730 		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 chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		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 chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		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 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:21388311 More... NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		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 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23830518 PMID:24033266 More... NCBI chr15:44,989,636...45,040,766
Ensembl chr15:44,989,636...45,040,761 		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:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 More... NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155 		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 chr 9:85,419,401...85,711,146
Ensembl chr 9:85,422,317...85,710,750 		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 chr15:25,328,679...25,379,675
Ensembl chr15:25,328,674...25,383,652 		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 chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066 		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 chr15:59,692,992...59,702,513
Ensembl chr15:59,692,996...59,701,265 		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 chr15:59,822,789...59,875,867
Ensembl chr15:59,822,822...59,879,422 		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 chr15:59,672,508...59,709,380
Ensembl chr15:59,672,540...59,709,379 		JBrowse link
G LOC100517560 cytochrome P450 27C1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr15:25,244,585...25,259,545 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 chr15:25,087,479...25,184,106
Ensembl chr15:25,087,738...25,178,060 		JBrowse link
G MYO7B myosin VIIB ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W ClinVar PMID:28492532 NCBI chr15:59,709,938...59,803,064
Ensembl chr15:59,709,943...59,803,046 		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 chr15:25,043,543...25,054,310
Ensembl chr15:25,043,545...25,056,595 		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 BVES blood vessel epicardial substance ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2X OMIM
ClinVar		 PMID:25741868 PMID:26642364 PMID:28492532 PMID:31119192 PMID:35660068 NCBI chr 1:71,316,354...71,360,255
Ensembl chr 1:71,314,274...71,360,175 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOR1AIP1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y OMIM
ClinVar		 PMID:4856141 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24856141 More... NCBI chr 9:121,515,691...121,566,799
Ensembl chr 9:121,515,570...121,566,796 		JBrowse link
G TOR1AIP2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y ClinVar PMID:24856141 PMID:25193337 NCBI chr 9:121,476,501...121,516,611
Ensembl chr 9:121,476,503...121,518,506 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2Z term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POGLUT1 protein O-glucosyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Z | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2z | ClinVar Annotator: match by term: POGLUT1-related condition OMIM
ClinVar		 PMID:24387993 PMID:25741868 PMID:27807076 PMID:28492532 PMID:29569780 More... NCBI chr13:140,763,231...140,793,645
Ensembl chr13:140,764,216...140,793,596 		JBrowse link
autosomal recessive 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, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 More... NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 OMIM
ClinVar		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
autosomal recessive 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 RNASEH1 ribonuclease H1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 OMIM
ClinVar		 PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 NCBI chr 3:131,268,908...131,277,072
Ensembl chr 3:131,268,926...131,281,930 		JBrowse link
autosomal recessive 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 TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 OMIM
ClinVar		 PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 More... NCBI chr 6:27,226,421...27,255,645
Ensembl chr 6:27,226,425...27,255,574 		JBrowse link
autosomal recessive 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 DGUOK deoxyguanosine kinase ISO ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 OMIM
ClinVar		 PMID:9536098 PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 More... NCBI chr 3:69,054,749...69,091,366
Ensembl chr 3:69,054,761...69,091,341 		JBrowse link
autosomal recessive 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 TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 OMIM
ClinVar		 PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:36544354 More... NCBI chr12:60,443,592...60,468,968
Ensembl chr12:60,443,677...60,468,964 		JBrowse link
Autosomal Recessive 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 RRM1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder OMIM
ClinVar		 PMID:25741868 NCBI chr 9:6,026,151...6,065,211
Ensembl chr 9:6,025,073...6,065,143 		JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK1 alpha kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,241,220...110,368,001
Ensembl chr 8:110,241,619...110,367,912 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:109,306,793...109,661,970 JBrowse link
G FAM241A family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,468,450...110,504,828
Ensembl chr 8:110,468,757...110,504,912 		JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708 		JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,200,681...110,206,081
Ensembl chr 8:110,201,161...110,201,979 		JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200 		JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM
ClinVar		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More... NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298 		JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094 		JBrowse link
G TIFA TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,377,817...110,394,190
Ensembl chr 8:110,377,892...110,389,604 		JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,089,920...110,168,086
Ensembl chr 8:110,090,001...110,168,081 		JBrowse link
Becker disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Becker disease | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar Annotator: match by term: Myotonia congenita autosomal recessive OMIM
ClinVar		 PMID:758138 PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 More... NCBI chr18:6,902,540...6,941,530
Ensembl chr18:6,902,542...6,940,449 		JBrowse link
G FAM131B family with sequence similarity 131 member B ISO ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form ClinVar PMID:16321142 PMID:18337100 PMID:23113340 PMID:23739125 PMID:25741868 More... NCBI chr18:6,893,323...6,903,022
Ensembl chr18:6,893,316...6,903,012 		JBrowse link
Becker muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5RAP1 CDK5 regulatory subunit associated protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Becker muscular dystrophy | ClinVar Annotator: match by term: Becker muscular dystrophy, atypical | ClinVar Annotator: match by term: Becker's muscular dystrophy | ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type OMIM
ClinVar		 PMID:1047858 PMID:1549596 PMID:1577476 PMID:1632439 PMID:1757094 More... NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,612...90,875,118 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:4793163 PMID:7695699 PMID:8218237 PMID:9536098 PMID:12840783 More...
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532
G LOC100623720 collagen alpha-1(VI) chain ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		JBrowse link
Bethlem Myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:136,370,457...136,382,559
Ensembl chr15:136,370,530...136,382,553 		JBrowse link
G AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:135,442,440...135,999,162
Ensembl chr15:135,441,906...135,993,311 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,720,648...139,730,737
Ensembl chr15:139,720,612...139,730,736 		JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,485,294...139,531,861 JBrowse link
G ANO7 anoctamin 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,951,191...139,956,575 JBrowse link
G AQP12 aquaporin 12 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,600,775...139,606,712 JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,931,419...137,952,050
Ensembl chr15:137,931,774...137,952,046 		JBrowse link
G ASB18 ankyrin repeat and SOCS box containing 18 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:136,049,744...136,116,084
Ensembl chr15:136,049,740...136,116,017 		JBrowse link
G ATG4B autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,223,903...140,245,590
Ensembl chr15:140,223,904...140,246,321 		JBrowse link
G BOK BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,171,134...140,184,126
Ensembl chr15:140,171,143...140,184,121 		JBrowse link
G CAPN10 calpain 10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,557,643...139,568,764
Ensembl chr15:139,557,469...139,568,767 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 RGD
ClinVar		 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 More... RGD:1600934
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:3352914 PMID:7695699 PMID:8218237 PMID:8817344 PMID:9536084 More... NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:136,828,222...136,838,058
Ensembl chr15:136,828,217...136,838,053 		JBrowse link
G COPS9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,260,471...139,264,252
Ensembl chr15:139,260,478...139,264,211 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,282,059...140,301,894
Ensembl chr15:140,282,068...140,301,891 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,308,612...140,322,624
Ensembl chr15:140,308,433...140,322,618 		JBrowse link
G DTYMK deoxythymidylate kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,248,071...140,255,803
Ensembl chr15:140,248,079...140,255,805 		JBrowse link
G DUSP28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,536,828...139,539,448
Ensembl chr15:139,537,326...139,539,438 		JBrowse link
G ERFE erythroferrone ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,728,507...137,738,687
Ensembl chr15:137,728,478...137,738,676 		JBrowse link
G ESPNL espin like ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,674,867...137,706,968
Ensembl chr15:137,675,710...137,706,662 		JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,060,304...140,144,059
Ensembl chr15:140,060,372...140,144,037 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532
G GBX2 gastrulation brain homeobox 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:136,029,393...136,032,568
Ensembl chr15:136,029,070...136,032,316 		JBrowse link
G GPC1 glypican 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,457,866...139,483,704
Ensembl chr15:139,457,669...139,484,670 		JBrowse link
G GPR35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,571,093...139,591,638
Ensembl chr15:139,583,769...139,591,632 		JBrowse link
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		JBrowse link
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,957,703...140,025,336
Ensembl chr15:139,957,715...140,022,302 		JBrowse link
G HES6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,785,808...137,787,689
Ensembl chr15:137,785,810...137,787,694 		JBrowse link
G ILKAP ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,740,291...137,765,758
Ensembl chr15:137,740,292...137,765,784 		JBrowse link
G ING5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,264,708...140,279,020
Ensembl chr15:140,264,766...140,279,010 		JBrowse link
G IQCA1 IQ motif containing with AAA domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:136,153,182...136,322,725
Ensembl chr15:136,152,982...136,321,605 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
G KLHL30 kelch like family member 30 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,709,315...137,721,806
Ensembl chr15:137,709,322...137,721,800 		JBrowse link
G LOC100521825 olfactory receptor 6B2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,040,721...139,041,685 JBrowse link
G LOC100623720 collagen alpha-1(VI) chain susceptibility ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: COL6A1-related condition
Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)		 OMIM
ClinVar
RGD		 PMID:1788629 PMID:7551830 PMID:7695699 PMID:7881296 PMID:8218237 More... RGD:1600934 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		JBrowse link
G LOC100625810 olfactory receptor 6B3-like ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,049,403...139,050,341 JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,283,262...137,439,383
Ensembl chr15:137,283,276...137,439,385 		JBrowse link
G MAB21L4 mab-21 like 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,734,539...139,745,131 JBrowse link
G MLPH melanophilin ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,173,962...137,219,724
Ensembl chr15:137,174,009...137,219,713 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897 		JBrowse link
G NEU4 neuraminidase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,324,087...140,332,226
Ensembl chr15:140,325,135...140,328,276 		JBrowse link
G OTOS otospiralin ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,268,930...139,272,155
Ensembl chr15:139,268,929...139,277,541 		JBrowse link
G PASK PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,887,439...139,917,887
Ensembl chr15:139,890,178...139,917,069 		JBrowse link
G PASK PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,881,217...139,887,505
Ensembl chr15:139,881,222...139,887,032 		JBrowse link
G PDCD1 programmed cell death 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478 		JBrowse link
G PER2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,793,419...137,837,854
Ensembl chr15:137,793,422...137,837,070 		JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,918,006...139,937,168
Ensembl chr15:139,917,257...139,941,251 		JBrowse link
G PRLH prolactin releasing hormone ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,230,209...137,232,178
Ensembl chr15:137,230,247...137,230,954 		JBrowse link
G RAB17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,232,781...137,255,884
Ensembl chr15:137,235,936...137,261,057 		JBrowse link
G RAMP1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,490,440...137,535,555
Ensembl chr15:137,490,356...137,535,553 		JBrowse link
G RBM44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,444,905...137,482,073
Ensembl chr15:137,444,855...137,481,025 		JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,542,193...139,551,257
Ensembl chr15:139,542,602...139,551,250 		JBrowse link
G SCLY selenocysteine lyase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,637,076...137,674,726
Ensembl chr15:137,637,128...137,674,735 		JBrowse link
G SEPTIN2 septin 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,023,836...140,058,291
Ensembl chr15:140,024,049...140,058,289 		JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,821,021...139,881,099
Ensembl chr15:139,821,062...139,881,095 		JBrowse link
G STK25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,144,334...140,154,361
Ensembl chr15:140,144,336...140,154,366 		JBrowse link
G THAP4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,190,198...140,223,454
Ensembl chr15:140,185,682...140,223,477 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,863,612...137,912,325
Ensembl chr15:137,863,609...137,912,477 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:138,228,640...138,276,341
Ensembl chr15:138,228,807...138,229,289 		JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,567,250...137,620,586 JBrowse link
Bethlem Myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8782832 PMID:15689448 PMID:16199547 More...
Bethlem Myopathy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1C OMIM
ClinVar		 PMID:3352914 PMID:8817344 PMID:9536084 PMID:15689448 PMID:17886299 More... NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 2 | ClinVar Annotator: match by term: COL12A1-related condition OMIM
ClinVar		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:25741905 PMID:27348394 More... NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,612...90,875,118 		JBrowse link
Brody 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 ClinVar Annotator: match by term: Brody myopathy OMIM
ClinVar		 PMID:8841193 PMID:9367679 PMID:9536098 PMID:10914677 PMID:15083169 More... NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310 		JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 3:18,506,082...18,519,060
Ensembl chr 3:18,506,052...18,519,056 		JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:28492532 NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,266...18,585,925 		JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135 		JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 3:18,521,119...18,524,705
Ensembl chr 3:18,521,128...18,524,959 		JBrowse link
centronuclear myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Centronuclear myopathy ClinVar PMID:25741868 PMID:32668698 NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Centronuclear myopathy ClinVar PMID:2734399 PMID:16227997 PMID:17008356 PMID:17825552 PMID:17932957 More... NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G KLHL31 kelch like family member 31 ISO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 MouseDO NCBI chr 7:27,088,393...27,106,104
Ensembl chr 7:27,062,044...27,106,111 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Centronuclear myopathy ClinVar PMID:18414213 NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Centronuclear myopathy ClinVar PMID:9536098 PMID:17576681 PMID:22473935 PMID:25741868 PMID:28492532 NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Centronuclear myopathy ClinVar PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
centronuclear myopathy 1 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: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 OMIM
ClinVar		 PMID:2734399 PMID:16227997 PMID:17008356 PMID:17825552 PMID:18414213 More... NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO OMIM NCBI chr13:65,948,520...65,994,231
Ensembl chr13:65,948,544...65,994,820 		JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 | ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:11053684 PMID:25741868 PMID:28492532 NCBI chr 5:100,762,918...100,764,771
Ensembl chr 5:100,762,917...100,764,773 		JBrowse link
centronuclear myopathy 2 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: Myopathy, centronuclear, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676042 PMID:18414213 More... NCBI chr15:25,328,679...25,379,675
Ensembl chr15:25,328,674...25,383,652 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066 		JBrowse link
G GPR17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr15:59,692,992...59,702,513
Ensembl chr15:59,692,996...59,701,265 		JBrowse link
G IWS1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr15:59,822,789...59,875,867
Ensembl chr15:59,822,822...59,879,422 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr15:59,672,508...59,709,380
Ensembl chr15:59,672,540...59,709,379 		JBrowse link
G LOC100517560 cytochrome P450 27C1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr15:25,244,585...25,259,545 JBrowse link
G MAP3K2 mitogen-activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr15:25,087,479...25,184,106
Ensembl chr15:25,087,738...25,178,060 		JBrowse link
G MYO7B myosin VIIB ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr15:59,709,938...59,803,064
Ensembl chr15:59,709,943...59,803,046 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,043,545...25,056,595 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:25741868 NCBI chr15:121,443,976...121,501,453 JBrowse link
centronuclear myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22818856 More... NCBI chr 3:41,053,926...41,057,735
Ensembl chr 3:41,053,936...41,057,734 		JBrowse link
centronuclear myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15037581 More... NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10862084 PMID:12552569 PMID:15060124 PMID:15863657 PMID:16944272 More... NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 | ClinVar Annotator: match by term: SPEG-related condition OMIM
ClinVar		 PMID:25087613 PMID:25741868 PMID:28492532 NCBI chr15:121,443,976...121,501,453 JBrowse link
centronuclear myopathy 6 with fiber-type disproportion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion OMIM
ClinVar		 PMID:16760198 PMID:25741868 PMID:27816943 PMID:28492532 NCBI chr15:79,174,444...79,378,520
Ensembl chr15:79,173,033...79,380,993 		JBrowse link
centronuclear myopathy X-linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD99L2 CD99 molecule like 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,456,668...122,535,989
Ensembl chr  X:122,456,676...122,535,870 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:17932957 PMID:18414213 PMID:20227276 PMID:20700106 PMID:22396310 More... NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G GPR50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,708,551...122,713,163
Ensembl chr  X:122,708,427...122,714,164 		JBrowse link
G HMGB3 high mobility group box 3 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,591,413...122,599,496
Ensembl chr  X:122,592,936...122,599,493 		JBrowse link
G MAMLD1 mastermind like domain containing 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,120,275...122,233,692
Ensembl chr  X:122,120,300...122,234,472 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:2352255 PMID:7611280 PMID:8640223 PMID:9199578 PMID:9285787 More... NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299 		JBrowse link
G MTMR1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,394,768...122,455,266
Ensembl chr  X:122,394,921...122,453,905 		JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,872,141...122,882,976 JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 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: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr12:14,612,177...14,637,946
Ensembl chr12:14,612,183...14,636,811 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)		 RGD
CTD		 PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 More... RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,570 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 More... NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G TWNK twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions		 RGD
ClinVar		 PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More... RGD:1600544 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		JBrowse link
Collagen VI-related Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 PMID:16199547 More...
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 More... NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532
G LOC100623720 collagen alpha-1(VI) chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVIL advillin ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chr 5:23,087,946...23,110,602
Ensembl chr 5:23,087,956...23,110,602 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 | ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS | ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr 5:23,073,087...23,087,029
Ensembl chr 5:23,072,808...23,097,915 		JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy OMIM
ClinVar		 PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy ClinVar PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 More... NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404 		JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPHOSPH9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr14:29,659,027...29,726,756
Ensembl chr14:29,659,034...29,724,461 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar		 PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More... NCBI chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899 		JBrowse link
Compton-North congenital myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTN1 contactin 1 ISO ClinVar Annotator: match by term: Compton-North congenital myopathy OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19026398 More... NCBI chr 5:72,168,496...72,495,454
Ensembl chr 5:72,168,511...72,495,633 		JBrowse link
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 OMIM
ClinVar		 PMID:19576565 PMID:25741868 PMID:28492532 PMID:28803818 PMID:29246662 More... NCBI chr 4:94,661,568...94,662,223
Ensembl chr 4:94,661,873...94,662,151 		JBrowse link
congenital merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase ISO RGD PMID:12383920 RGD:5688132 NCBI chr13:104,946,732...105,007,568 JBrowse link
G LAMA2 laminin subunit alpha 2 treatment ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative OMIM
ClinVar
RGD		 PMID:1061118 PMID:2152033 PMID:7550355 PMID:8957020 PMID:9158149 More... RGD:13605609 NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,866,850...34,359,698 		JBrowse link
G LOC100623616 arylacetamide deacetylase-like ISO ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative ClinVar PMID:21681106 PMID:25666259 PMID:27854218 NCBI chr13:92,017,495...92,042,944
Ensembl chr13:92,017,548...92,042,938 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A ClinVar PMID:124622 PMID:12826609 PMID:25326637 PMID:25741868 PMID:26619011 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
congenital muscular dystrophy 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: Congenital muscular dystrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO OMIM:254100 MouseDO NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,422,317...85,710,750 		JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:27854218 PMID:28492532 NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy		 ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,903,100...42,913,609 		JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,866,850...34,359,698 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:15770669 PMID:25741868 PMID:26467025 PMID:26900797 PMID:28492532 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:546,187...766,131
Ensembl chr15:546,173...766,125 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:17878207 PMID:18195152 PMID:18691338 PMID:19067344 PMID:20981092 More... NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:769,518...832,036
Ensembl chr15:774,191...832,010 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:9536098 PMID:15466003 PMID:17576681 PMID:17878207 PMID:17906881 More... NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr15:84,226,953...84,501,320 JBrowse link
congenital muscular dystrophy due to integrin alpha-7 deficiency 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: Congenital muscular dystrophy due to integrin alpha-7 deficiency ClinVar PMID:25741868 NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,422,317...85,710,750 		JBrowse link
G ITGA7 integrin subunit alpha 7 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY | ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency OMIM
ClinVar		 PMID:9536098 PMID:9590299 PMID:12057917 PMID:16199547 PMID:17576681 More... NCBI chr 5:21,126,565...21,150,875
Ensembl chr 5:21,126,571...21,148,776 		JBrowse link
G TMT1B thiol methyltransferase 1B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency ClinVar PMID:28492532 NCBI chr 5:21,123,548...21,126,295
Ensembl chr 5:21,123,543...21,126,607 		JBrowse link
congenital muscular dystrophy due to LMNA mutation 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: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency ClinVar PMID:8957020 PMID:9158149 PMID:9536098 PMID:9541105 PMID:9674786 More... NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,866,850...34,359,698 		JBrowse link
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INPP5K inositol polyphosphate-5-phosphatase K ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability OMIM
ClinVar		 PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 PMID:33792664 NCBI chr12:47,717,898...47,738,540
Ensembl chr12:47,718,491...47,738,475 		JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
G MYH1 myosin, heavy chain 1, skeletal muscle, adult ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741914 NCBI chr12:55,225,581...55,251,495
Ensembl chr12:55,225,590...55,249,340 		JBrowse link
Congenital Muscular Dystrophy with Rapid Progression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BET1 Bet1 golgi vesicular membrane trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with rapid progression ClinVar PMID:25741868 PMID:34779586 NCBI chr 9:73,782,157...73,792,653
Ensembl chr 9:73,782,168...73,792,648 		JBrowse link
Congenital Muscular Dystrophy, Davignon-Chauveau Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type OMIM
ClinVar		 PMID:25741868 PMID:27008887 PMID:28492532 PMID:31794073 NCBI chr 1:107,588,778...107,654,679
Ensembl chr 1:107,588,492...107,654,639 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 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: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 More... NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKMY2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 9:85,850,646...85,887,450
Ensembl chr 9:85,848,002...85,887,427 		JBrowse link
G BZW2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 9:85,887,801...85,947,414
Ensembl chr 9:85,886,158...85,947,410 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 OMIM
ClinVar		 PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:9536098 More... NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,422,317...85,710,750 		JBrowse link
G LRRC72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 9:85,811,382...85,844,726
Ensembl chr 9:85,803,242...85,844,792 		JBrowse link
G SOSTDC1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 9:85,743,332...85,747,893
Ensembl chr 9:85,743,341...85,747,591 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:23877401 PMID:25558065 NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:10545611 PMID:11165248 PMID:14627679 PMID:17044012 PMID:17597323 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1		 ClinVar PMID:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr 5:28,247,409...28,276,276
Ensembl chr 5:28,247,412...28,276,273 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23453667 PMID:24084573 More... NCBI chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:25741868 PMID:28492532 NCBI chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr17:11,928,327...11,953,139
Ensembl chr17:11,928,358...11,951,684 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr17:11,817,963...11,919,152
Ensembl chr17:11,818,031...11,923,196 		JBrowse link
G LOC100154844 heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr17:8,644,388...8,665,004 JBrowse link
G POMK protein O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 More... NCBI chr17:11,957,615...11,978,919 JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,816,049 		JBrowse link
G THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr17:11,765,383...11,773,321
Ensembl chr17:11,765,149...11,772,620 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22219654 PMID:23877401 PMID:25558065 More... NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:5,886,989...5,906,468
Ensembl chr 2:5,886,990...5,906,388 		JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:6,046,077...6,053,672
Ensembl chr 2:6,046,098...6,053,667 		JBrowse link
G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:5,907,251...5,948,019
Ensembl chr 2:5,907,252...5,946,734 		JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:5,978,470...5,981,449
Ensembl chr 2:5,978,483...5,981,449 		JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:5,990,936...5,995,940
Ensembl chr 2:5,990,327...5,995,929 		JBrowse link
G PELI3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:5,950,552...5,959,786
Ensembl chr 2:5,948,849...5,959,734 		JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:6,053,875...6,061,051 JBrowse link
G SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:6,027,287...6,036,280
Ensembl chr 2:6,027,287...6,036,280 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 More... NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr 6:52,601,934...52,627,910
Ensembl chr 6:52,601,938...52,627,902 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 OMIM
ClinVar		 PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More...
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:27,006,331...27,053,760
Ensembl chr13:27,006,208...27,056,744 		JBrowse link
G ACKR2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,291,583...26,329,506
Ensembl chr13:26,288,584...26,329,581 		JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,734,098...27,006,163
Ensembl chr13:26,734,107...27,006,539 		JBrowse link
G CCDC13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,220,622...26,265,699
Ensembl chr13:26,224,333...26,265,700 		JBrowse link
G CCK cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:25,940,674...25,945,879
Ensembl chr13:25,937,645...25,945,793 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,233...26,331,738 		JBrowse link
G GASK1A golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,415,637...26,473,649
Ensembl chr13:26,415,710...26,473,645 		JBrowse link
G HHATL hedgehog acyltransferase like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,209,397...26,219,944
Ensembl chr13:26,206,867...26,222,499 		JBrowse link
G HIGD1A HIG1 hypoxia inducible domain family member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,278,202...26,286,334
Ensembl chr13:26,278,208...26,286,202 		JBrowse link
G KLHL40 kelch like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,202,607...26,211,528
Ensembl chr13:26,202,677...26,211,522 		JBrowse link
G LYZL4 lysozyme like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:25,987,662...25,992,607
Ensembl chr13:25,987,314...25,995,089 		JBrowse link
G NKTR natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,125,064...26,176,395
Ensembl chr13:26,125,072...26,174,511 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED OMIM
ClinVar		 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26436962 PMID:26467025 More... NCBI chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133 		JBrowse link
G SEC22C SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,080,934...26,125,120
Ensembl chr13:26,083,226...26,107,223 		JBrowse link
G SNRK SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,669,208...26,724,466
Ensembl chr13:26,669,257...26,724,458 		JBrowse link
G SS18L2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,108,287...26,112,625
Ensembl chr13:26,108,434...26,112,759 		JBrowse link
G TRAK1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:25,773,345...25,934,770
Ensembl chr13:25,774,250...25,935,828 		JBrowse link
G ULK4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:25,207,890...25,751,465
Ensembl chr13:25,209,368...25,751,500 		JBrowse link
G VIPR1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,036,610...26,073,168
Ensembl chr13:26,036,629...26,075,691 		JBrowse link
G ZBTB47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,181,268...26,195,282
Ensembl chr13:26,182,185...26,198,115 		JBrowse link
G ZNF662 zinc finger protein 662 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,309,983...26,352,554
Ensembl chr13:26,342,004...26,352,548 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 OMIM
ClinVar		 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 More... NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
congenital myasthenic syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 ClinVar PMID:7762555 PMID:8353501 PMID:9587029 PMID:10338090 PMID:10408774 More... NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248 		JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 OMIM
ClinVar		 PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More... NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685 		JBrowse link
congenital myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 PMID:30354303 PMID:32403337 PMID:33333461 NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
G ASCC3 activating signal cointegrator 1 complex subunit 3 ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 NCBI chr 1:67,331,939...67,657,080
Ensembl chr 1:67,331,948...67,657,085 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:758138 PMID:7581380 PMID:7874130 PMID:7951215 PMID:7981750 More... NCBI chr18:6,902,540...6,941,530
Ensembl chr18:6,902,542...6,940,449 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 NCBI chr14:71,550,405...71,607,067
Ensembl chr14:71,552,121...71,610,740 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136 		JBrowse link
G LDB3 LIM domain binding 3 ISO MouseDO NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:183784 PMID:17531815 PMID:17718861 PMID:24763289 PMID:25111426 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
G MYBPC1 myosin binding protein C1 ISO MouseDO NCBI chr 5:82,557,975...82,651,237
Ensembl chr 5:82,557,609...82,696,126 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 PMID:33500567 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYO15B myosin XVB ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 NCBI chr12:5,770,139...5,805,136
Ensembl chr12:5,770,142...5,804,410 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 PMID:26700687 PMID:28492532 NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Congenital myopathy ClinVar PMID:25741868 NCBI chr15:84,226,953...84,501,320 JBrowse link
congenital myopathy 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEGF10 multiple EGF like domains 10 ISO ClinVar Annotator: match by term: Congenital myopathy 10b, mild variant ClinVar
OMIM		 PMID:22101682 PMID:22371254 PMID:23954233 PMID:25741868 PMID:27460346 More... NCBI chr 2:130,226,222...130,403,960
Ensembl chr 2:130,189,556...130,401,077 		JBrowse link
Congenital Myopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Congenital myopathy 11 OMIM
ClinVar		 PMID:16199547 PMID:23933735 PMID:28492532 PMID:32426512 PMID:33354762 NCBI chr10:43,901,590...43,929,441
Ensembl chr10:43,897,162...43,929,409 		JBrowse link
congenital myopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL1 myosin light chain 1 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 14 | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY OMIM
ClinVar		 PMID:25741868 PMID:30215711 NCBI chr15:113,038,083...113,051,315
Ensembl chr15:113,036,228...113,063,321 		JBrowse link
congenital myopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNC2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chr17:48,025,621...48,026,762
Ensembl chr17:48,024,687...48,028,651 		JBrowse link
congenital myopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC1 myosin binding protein C1 ISO ClinVar Annotator: match by term: MYOGENIC TREMOR | ClinVar Annotator: match by term: Myopathy, congenital, with tremor OMIM
ClinVar		 PMID:18414213 PMID:22610851 PMID:25741868 PMID:28492532 PMID:31025394 More... NCBI chr 5:82,557,975...82,651,237
Ensembl chr 5:82,557,609...82,696,126 		JBrowse link
congenital myopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:26733463 PMID:30403323 PMID:31260566 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435 		JBrowse link
congenital myopathy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1S calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Congenital myopathy 18 ClinVar
OMIM		 PMID:9199552 PMID:9536098 PMID:10590402 PMID:11260227 PMID:11940049 More... NCBI chr10:23,503,701...23,567,797
Ensembl chr10:23,502,898...23,568,058 		JBrowse link
congenital myopathy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX7 paired box 7 ISO ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 6:77,160,827...77,268,626
Ensembl chr 6:77,161,097...77,267,415 		JBrowse link
congenital myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333 		JBrowse link
G ATP13A4 ATPase 13A4 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr13:130,436,995...130,590,124
Ensembl chr13:130,440,564...130,589,857 		JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:21990111 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:33,282,524...33,325,598
Ensembl chr15:33,288,301...33,304,631 		JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:11139241 PMID:16123401 PMID:17964524 PMID:23049240 PMID:25741868 More... NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,190 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,934,573...38,948,609 JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:18414213 PMID:21990111 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:95,840,906...95,860,858
Ensembl chr 6:95,840,908...95,860,858 		JBrowse link
G RYR1 ryanodine receptor 1 susceptibility ISO ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome ClinVar
OMIM		 PMID:12434 PMID:16940 PMID:18253 PMID:1256913 PMID:1329581 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
congenital myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 PMID:30770808 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136 		JBrowse link
G RYR1 ryanodine receptor 1 susceptibility ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy ClinVar
OMIM		 PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr15:84,226,953...84,501,320 JBrowse link
congenital myopathy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: RYR3-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:80,447,337...80,640,120
Ensembl chr 7:80,447,524...80,640,119 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Congenital myopathy 20 | ClinVar Annotator: match by term: RYR3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29498452 More... NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491 		JBrowse link
congenital myopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 ISO ClinVar Annotator: match by term: Congenital myopathy 21 with early respiratory failure OMIM
ClinVar		 PMID:36264506 PMID:36344539 NCBI chr 6:135,243,927...135,281,376
Ensembl chr 6:135,243,937...135,281,370 		JBrowse link
congenital myopathy 22A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Congenital myopathy 22A, classic OMIM
ClinVar		 PMID:20076800 PMID:25741868 PMID:26659129 PMID:26700687 PMID:28262468 More... NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		JBrowse link
congenital myopathy 22B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Congenital myopathy 22B, severe fetal ClinVar
OMIM		 PMID:26700687 PMID:28492532 NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		JBrowse link
congenital myopathy 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital myopathy 2b, severe infantile, autosomal recessive ClinVar
OMIM		 PMID:10508519 PMID:12921789 PMID:15226407 PMID:15236405 PMID:17187373 More... NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
congenital myopathy 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital myopathy 2c, severe infantile, autosomal dominant OMIM
ClinVar		 PMID:9185179 PMID:10508519 PMID:11333380 PMID:15226407 PMID:15236405 More... NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
congenital myopathy 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders ClinVar PMID:9536098 PMID:10508519 PMID:10528865 PMID:12921789 PMID:15226407 More... NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 PMID:28855170 PMID:32453731 PMID:32600061 PMID:33731536 NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,205,273...32,213,722 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders ClinVar PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age ClinVar PMID:25326635 PMID:25741868 NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders		 ClinVar PMID:7224095 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 More... NCBI chr 6:83,246,934...83,262,748
Ensembl chr 6:83,246,934...83,262,743 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion OMIM
ClinVar		 PMID:1221488 PMID:10619715 PMID:12163190 PMID:12467750 PMID:17376686 More... NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938 		JBrowse link
congenital myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated protein 1 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY ClinVar PMID:25741868 PMID:25787093 PMID:28062663 PMID:28492532 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Salih Myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 5:65,760,078...65,788,703
Ensembl chr 5:65,759,727...65,788,646 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy | ClinVar Annotator: match by term: Salih Myopathy OMIM
ClinVar		 PMID:1745277 PMID:9536098 PMID:9804419 PMID:10053013 PMID:10462489 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
congenital myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974 		JBrowse link
G GAS7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,752,436...54,974,535
Ensembl chr12:54,752,507...54,973,515 		JBrowse link
G GLP2R glucagon like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,680,047...54,747,338
Ensembl chr12:54,680,057...54,738,102 		JBrowse link
G MYH1 myosin, heavy chain 1, skeletal muscle, adult ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,225,581...55,251,495
Ensembl chr12:55,225,590...55,249,340 		JBrowse link
G MYH13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,051,990...55,103,415
Ensembl chr12:55,046,888...55,103,400 		JBrowse link
G MYH2 myosin, heavy chain 2, skeletal muscle, adult ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia OMIM
ClinVar		 PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr12:55,252,974...55,278,820 JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		JBrowse link
G MYH4 myosin, heavy chain 4, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,190,545...55,216,294
Ensembl chr12:55,190,433...55,212,813 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,748 		JBrowse link
G RCVRN recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,740,642...54,752,291
Ensembl chr12:54,740,644...54,750,716 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,406,730...55,424,120
Ensembl chr12:55,405,483...55,424,118 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
congenital myopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 8 | ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE | ClinVar Annotator: match by term: Myopathy, congenital, with structured cores and z-line abnormalities OMIM
ClinVar		 PMID:9536098 PMID:14567970 PMID:17576681 PMID:20022194 PMID:20474083 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
congenital myopathy 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Myopathy, congenital, with respiratory insufficiency and bone fractures OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30770808 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136 		JBrowse link
congenital myopathy 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Myopathy, congenital proximal, with minicore lesions OMIM
ClinVar		 PMID:25741868 PMID:30770808 PMID:35393337 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136 		JBrowse link
Congenital Myopathy with Excess of Muscle Spindles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles ClinVar PMID:1362901 PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles ClinVar PMID:1362901 PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
Congenital Neuromuscular Disease, with Uniform Type 1 Fiber term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber ClinVar PMID:9536098 PMID:10888602 PMID:11709545 PMID:11741831 PMID:12565913 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
congenital structural myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:10508519 PMID:12921789 PMID:15226407 PMID:15236405 PMID:15468086 More... NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839 		JBrowse link
G BIN1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676042 NCBI chr15:25,328,679...25,379,675
Ensembl chr15:25,328,674...25,383,652 		JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:41,053,926...41,057,735
Ensembl chr 3:41,053,936...41,057,734 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy		 ClinVar PMID:2734399 PMID:16199547 PMID:16227997 PMID:17008356 PMID:17825552 More... NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO Centronuclear myopathy, HACD1-related OMIA PMID:977449 PMID:2458692 PMID:3421890 PMID:3662204 PMID:3750734 More... NCBI chr10:43,901,590...43,929,441
Ensembl chr10:43,897,162...43,929,409 		JBrowse link
G LDB3 LIM domain binding 3 ISO RGD PMID:11696561 RGD:1581815 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 ClinVar PMID:9285787 PMID:9305655 PMID:9450905 PMID:10063835 PMID:10790201 More... NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:17008356 PMID:25741868 PMID:28492532 NCBI chr13:65,948,520...65,994,231
Ensembl chr13:65,948,544...65,994,820 		JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:9536098 PMID:11053684 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 5:100,762,918...100,764,771
Ensembl chr 5:100,762,917...100,764,773 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:25741868 PMID:28855170 PMID:32453731 PMID:32600061 PMID:33731536 NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,205,273...32,213,722 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:31,012,212...31,028,008
Ensembl chr14:31,011,644...31,027,993 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr 5:101,099,525...101,318,254
Ensembl chr 5:101,100,282...101,251,884 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr 5:101,490,282...101,639,456
Ensembl chr 5:101,490,341...101,639,429 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy		 ClinVar PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:25741868 PMID:28492532 PMID:30932294 NCBI chr 6:83,246,934...83,262,748
Ensembl chr 6:83,246,934...83,262,743 		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 chr15:121,443,976...121,501,453 JBrowse link
G STIM1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:1221488 PMID:10619715 PMID:12163190 PMID:12467750 PMID:17376686 More... NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Myotubular myopathy ClinVar PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:26701604 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
COX deficiency, infantile mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 More... NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:12529715 PMID:14970747 More... NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,033,930 		JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr16:24,521,318...24,575,939
Ensembl chr16:24,520,634...24,590,338 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CD36 CD36 molecule ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL4 interleukin 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:cds:p.G54D,G57E(human) RGD PMID:12485445 RGD:8693750 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:15856462 RGD:2324870 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,149,510 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:22402141 RGD:8661693 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:17899683 RGD:5685006 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099 		JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TLR9 toll like receptor 9 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GOLGA2 golgin A2 ISO ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:30237576 PMID:34424553 NCBI chr 1:268,702,823...268,721,174 JBrowse link
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTAP methylthioadenosine phosphorylase ISO ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY OMIM
ClinVar		 PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 1:200,882,954...200,934,389
Ensembl chr 1:200,882,956...200,934,445 		JBrowse link
distal myopathy 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: Distal muscle weakness
ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type		 ClinVar PMID:22499103 PMID:25741868 PMID:25891276 PMID:26886200 PMID:27447704 More... NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
G DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 ISO MouseDO NCBI chr 6:135,243,927...135,281,376
Ensembl chr 6:135,243,937...135,281,370 		JBrowse link
G DYSF dysferlin ISO OMIM:160300 | OMIM:160500 | OMIM:254130 | OMIM:606768 | OMIM:607569 | OMIM:610099 | OMIM:613318 | OMIM:613319 | OMIM:614065 | OMIM:614321 MouseDO NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:25741868 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208 		JBrowse link
G HSPB8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Distal myopathy ClinVar PMID:25741868 PMID:26976520 PMID:28501893 PMID:29029362 NCBI chr14:33,626,125...33,639,824
Ensembl chr14:33,626,120...33,640,792 		JBrowse link
G LDB3 LIM domain binding 3 ISO DNA:missense mutation:exon:p.A165V (human) RGD PMID:17337483 RGD:11068981 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY ClinVar NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MATR3 matrin 3 ISO ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type ClinVar NCBI chr 2:141,179,515...141,230,259
Ensembl chr 2:141,179,566...141,231,015 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:15064763 PMID:15549395 PMID:16437557 PMID:16714318 PMID:16835246 More... NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 More... NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY		 ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Distal muscle weakness ClinVar PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 More... NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY
ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY		 ClinVar PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11717165 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
distal myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 ClinVar NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP
ISO		 Tremor, high-frequency
ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1		 OMIA
ClinVar
OMIM		 PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
distal myopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Myopathy, distal, 3 OMIM
ClinVar		 PMID:12847162 PMID:34722876 NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417 		JBrowse link
distal myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement ClinVar PMID:25741868 NCBI chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: Myopathy, distal, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY OMIM
ClinVar		 PMID:2781633 PMID:9536098 PMID:15824355 PMID:16199547 PMID:17576681 More... NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		JBrowse link
G FRMD1 FERM domain containing 1 ISO ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement ClinVar PMID:25741868 NCBI chr 1:1,507,123...1,521,669
Ensembl chr 1:1,507,627...1,521,666 		JBrowse link
Distal Myopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: ADSS1-related condition | ClinVar Annotator: match by term: Myopathy, distal, 5 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26506222 PMID:27868399 PMID:28268051 More...
Distal Myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:14567970 PMID:17576681 PMID:20022194 PMID:20474083 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
Distal Myopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMPX small muscle protein X-linked ISO ClinVar Annotator: match by term: Myopathy, distal, 7, adult-onset, X-linked OMIM
ClinVar		 PMID:28492532 PMID:33974137 NCBI chr  X:17,889,030...17,938,206
Ensembl chr  X:17,889,030...17,938,293 		JBrowse link
distal myopathy Tateyama type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type OMIM
ClinVar		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,795...65,131,273 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr13:65,134,055...65,155,543
Ensembl chr13:65,134,057...65,153,487 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr13:65,041,193...65,066,367
Ensembl chr13:65,039,719...65,066,369 		JBrowse link
distal myopathy with anterior tibial onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin ISO ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset OMIM
ClinVar		 PMID:2766772 PMID:9536098 PMID:9731526 PMID:11053681 PMID:11198284 More... NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
distal myopathy with rimmed vacuoles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES ClinVar PMID:9536098 PMID:11528398 PMID:12497639 PMID:12743242 PMID:14972325 More... NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G SQSTM1 sequestosome 1 ISO ClinVar Annotator: match by term: Myopathy, distal, with rimmed vacuoles OMIM
ClinVar		 PMID:12374763 PMID:15176995 PMID:16199547 PMID:17129171 PMID:17181397 More... NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938 		JBrowse link
Duchenne muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP6 A-kinase anchoring protein 6 ISO mRNA:decreased expression:heart RGD PMID:14511675 RGD:14349026 NCBI chr 7:66,913,541...67,462,147
Ensembl chr 7:66,915,881...67,375,177 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CD4 CD4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519 		JBrowse link
G CDK5RAP1 CDK5 regulatory subunit associated protein 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187 		JBrowse link
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle
protein:decreased expression:skeletal muscle		 RGD PMID:7630355 PMID:11445638 PMID:15833425 RGD:11073211 RGD:11537476 RGD:11552581 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G DMD dystrophin treatment ISO
IAGP		 ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy
Muscular dystrophy, Duchenne type		 OMIM
ClinVar
OMIA
RGD		 PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 More... RGD:12880007 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G FTHL17 ferritin heavy chain like 17 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,955,098...26,956,111
Ensembl chr  X:26,955,098...26,955,649 		JBrowse link
G GK glycerol kinase ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,470,422...26,558,892 JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:24,408,092...25,811,129
Ensembl chr  X:24,409,327...25,806,680 		JBrowse link
G ITGA7 integrin subunit alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chr 5:21,126,565...21,150,875
Ensembl chr 5:21,126,571...21,148,776 		JBrowse link
G LOC100154079 melanoma-associated antigen B1-like ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,044,526...26,076,729 JBrowse link
G LOC100515809 DDB1- and CUL4-associated factor 8 pseudogene ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 NCBI chr  X:23,567,816...23,570,915 JBrowse link
G LOC102159844 melanoma-associated antigen B4-like ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:25,895,424...26,030,203 JBrowse link
G LOC110255254 melanoma-associated antigen B10-like ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 NCBI chr  X:23,618,483...23,621,851
Ensembl chr  X:23,620,303...23,621,557 		JBrowse link
G MAGEB3 MAGE family member B3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,044,502...26,055,412
Ensembl chr  X:26,053,954...26,054,997 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:23977226 RGD:13204809 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:9542584 RGD:13825135 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,117,874...26,122,951
Ensembl chr  X:26,117,874...26,122,951 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G PLA2G6 phospholipase A2 group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,713,873...9,777,918 		JBrowse link
G POSTN periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978 		JBrowse link
G STX1A syntaxin 1A ISO RGD PMID:26604869 RGD:12903957 NCBI chr 3:10,974,127...10,991,846
Ensembl chr 3:10,974,127...10,991,873 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO RGD PMID:26604869 RGD:12903957 NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778 		JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,632,547...26,729,039
Ensembl chr  X:26,632,551...26,729,051 		JBrowse link
G TASL TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:26,363,808...26,384,933
Ensembl chr  X:26,365,027...26,384,760 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834 		JBrowse link
G UTRN utrophin ISO RGD PMID:9288751 RGD:737706 NCBI chr 1:20,514,264...21,047,927
Ensembl chr 1:20,514,260...21,048,484 		JBrowse link
Dysferlinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin ISO ClinVar Annotator: match by term: Dysferlinopathy ClinVar PMID:1707005 PMID:2606004 PMID:2766772 PMID:8808603 PMID:9536098 More... NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
dystonia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Dystonia 27 OMIM
ClinVar		 PMID:15689448 PMID:18378883 PMID:18414213 PMID:20981092 PMID:23572247 More... NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEGF10 multiple EGF like domains 10 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 10A, SEVERE VARIANT | ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 More... NCBI chr 2:130,226,222...130,403,960
Ensembl chr 2:130,189,556...130,401,077 		JBrowse link
Emery-Dreifuss muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ANKRD54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,003,858...10,017,740
Ensembl chr 5:10,003,891...10,017,734 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,778,643...9,799,705
Ensembl chr 5:9,778,727...9,799,703 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G C1QTNF6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,601,869...10,606,886
Ensembl chr 5:10,601,762...10,608,777 		JBrowse link
G C5H22orf23 chromosome 5 C22orf23 homolog ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,917,786...9,924,664
Ensembl chr 5:9,917,781...9,924,662 		JBrowse link
G CARD10 caspase recruitment domain family member 10 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,290,697...10,317,224
Ensembl chr 5:10,284,139...10,316,720 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,346,087...9,358,155 JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CDC42EP1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,244,625...10,253,430
Ensembl chr 5:10,241,691...10,252,986 		JBrowse link
G CIMIP4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,768,056...10,776,274
Ensembl chr 5:10,764,497...10,776,172 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,816,366...10,840,613
Ensembl chr 5:10,816,376...10,840,618 		JBrowse link
G CSNK1E casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,594,461...9,620,483
Ensembl chr 5:9,594,934...9,620,476 		JBrowse link
G CYTH4 cytohesin 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,491,202...10,521,583
Ensembl chr 5:10,489,289...10,521,735 		JBrowse link
G DDX17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,485,792...9,505,157
Ensembl chr 5:9,485,702...9,505,157 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DMC1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,431,236...9,470,333
Ensembl chr 5:9,431,177...9,470,113 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EIF3L eukaryotic translation initiation factor 3 subunit L ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,970,013...9,996,086
Ensembl chr 5:9,968,428...10,000,092 		JBrowse link
G ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,365,767...10,434,351
Ensembl chr 5:10,427,019...10,429,478 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:1178008 PMID:1998333 PMID:7294729 PMID:7894480 PMID:8589715 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM227A family with sequence similarity 227 member A ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,358,405...9,419,516 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16080119 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GALR3 galanin receptor 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,024,332...10,027,171
Ensembl chr 5:10,023,746...10,026,120 		JBrowse link
G GCAT glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,027,133...10,038,494
Ensembl chr 5:10,027,044...10,038,433 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,186,132...10,213,830
Ensembl chr 5:10,190,367...10,213,477 		JBrowse link
G GTPBP1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy		 ClinVar PMID:9536098 PMID:16783378 PMID:17576681 PMID:18570303 PMID:18799783 More... NCBI chr 5:9,294,329...9,322,192
Ensembl chr 5:9,247,203...9,321,899 		JBrowse link
G H1-0 H1.0 linker histone ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,038,944...10,041,242
Ensembl chr 5:10,038,966...10,041,067 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IFT27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,994,182...11,015,476
Ensembl chr 5:10,994,215...11,017,950 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G JOSD1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,321,932...9,336,675
Ensembl chr 5:9,321,640...9,335,041 		JBrowse link
G KCNJ4 potassium inwardly rectifying channel subfamily J member 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,526,399...9,549,290
Ensembl chr 5:9,547,177...9,548,520 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,707,351...10,718,968
Ensembl chr 5:10,707,354...10,718,959 		JBrowse link
G KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,505,205...9,515,723
Ensembl chr 5:9,505,206...9,515,723 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LGALS1 galectin 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,149,069...10,152,514
Ensembl chr 5:10,149,068...10,156,023 		JBrowse link
G LGALS2 galectin 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,237,772...10,244,555
Ensembl chr 5:10,237,745...10,250,162 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:262236 PMID:1839274 PMID:1849984 PMID:2007407 PMID:2280636 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC102166335 EKC/KEOPS complex subunit LAGE3-like ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,150,593...125,152,014 JBrowse link
G LOC110257703 paraneoplastic antigen-like protein 6B ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,203,040...124,204,023 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MAFF MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,683,651...9,696,128
Ensembl chr 5:9,683,660...9,696,023 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,319,821...10,334,500
Ensembl chr 5:10,319,816...10,344,832 		JBrowse link
G MICALL1 MICAL like 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,924,648...9,956,998
Ensembl chr 5:9,924,652...9,956,946 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,739,179...10,749,826
Ensembl chr 5:10,739,197...10,749,731 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,876,147...10,994,002
Ensembl chr 5:10,874,953...10,994,014 		JBrowse link
G NOL12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,137,362...10,144,156
Ensembl chr 5:10,137,362...10,144,140 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G PDXP pyridoxal phosphatase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,162,642...10,169,726
Ensembl chr 5:10,162,643...10,169,512 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PICK1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,808,444...9,829,677
Ensembl chr 5:9,808,451...9,825,539 		JBrowse link
G PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,713,873...9,777,918 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,998,935...124,001,201
Ensembl chr  X:123,999,037...124,000,974 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726 		JBrowse link
G PVALB parvalbumin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,953,559...10,973,300
Ensembl chr 5:10,955,491...10,973,289 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RAC2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,553,986...10,571,082
Ensembl chr 5:10,553,433...10,573,014 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SH3BP1 SH3 domain binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,172,303...10,187,883
Ensembl chr 5:10,172,667...10,187,906 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC16A8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,799,830...9,806,550
Ensembl chr 5:9,800,397...9,806,543 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G SSTR3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,581,814...10,593,796
Ensembl chr 5:10,581,912...10,589,982 		JBrowse link
G SUN1 Sad1 and UNC84 domain containing 1 severity ISO ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy RGD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22541428 PMID:25741868 More... RGD:10044242 NCBI chr 3:485,980...532,974
Ensembl chr 3:486,021...530,869 		JBrowse link
G SUN2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:16783378 PMID:17576681 PMID:18570303 More... NCBI chr 5:9,273,136...9,293,258
Ensembl chr 5:9,273,240...9,293,254 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:13,715,644...14,201,711 JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:26467025 PMID:28492532 NCBI chr 1:193,909,563...194,352,550
Ensembl chr 1:193,911,965...194,264,354 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM184B transmembrane protein 184B ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,633,554...9,682,116
Ensembl chr 5:9,633,554...9,682,115 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMEM43 transmembrane protein 43 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G TMPRSS6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,663,491...10,704,583
Ensembl chr 5:10,663,635...10,705,471 		JBrowse link
G TOMM22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:9,336,114...9,339,867
Ensembl chr 5:9,336,130...9,350,015 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491 		JBrowse link
G TST thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 5:10,749,264...10,759,623
Ensembl chr 5:10,746,890...10,759,622 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,215,906...124,227,853
Ensembl chr  X:124,216,324...124,224,778 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302 MouseDO NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,942,981...123,988,102
Ensembl chr  X:123,944,210...123,987,962 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,156,708...124,173,566 JBrowse link
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCK5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:393,720...410,582
Ensembl chr 4:393,728...410,559 		JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:486,562...507,141
Ensembl chr 4:475,426...507,138 		JBrowse link
G CCDC166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:920,432...924,051
Ensembl chr 4:920,749...923,197 		JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:382,887...393,732 JBrowse link
G CYC1 cytochrome c1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:606,510...608,991
Ensembl chr 4:606,516...608,996 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,365,725...1,373,138 JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:452,890...463,665
Ensembl chr 4:452,662...466,684 		JBrowse link
G EEF1D eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:969,532...982,250
Ensembl chr 4:969,527...983,270 		JBrowse link
G EPPK1 epiplakin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:780,276...798,760
Ensembl chr 4:785,029...798,563 		JBrowse link
G EXOSC4 exosome component 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:618,993...621,336
Ensembl chr 4:618,990...621,342 		JBrowse link
G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517 		JBrowse link
G FBXL6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:424,433...427,799
Ensembl chr 4:424,508...427,799 		JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481 		JBrowse link
G GFUS GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:950,947...955,865
Ensembl chr 4:949,867...959,744 		JBrowse link
G GLI4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,195,414...1,222,456
Ensembl chr 4:1,215,075...1,235,163 		JBrowse link
G GML glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,355,696...1,364,106 JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:614,596...618,274
Ensembl chr 4:614,601...618,241 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,253,401...1,256,921
Ensembl chr 4:1,254,565...1,256,577 		JBrowse link
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:682,823...686,144
Ensembl chr 4:682,835...686,116 		JBrowse link
G GSDMD gasdermin D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:995,753...1,001,964
Ensembl chr 4:995,763...1,000,271 		JBrowse link
G HGH1 HGH1 homolog ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:581,751...585,029
Ensembl chr 4:581,758...585,035 		JBrowse link
G HSF1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473 		JBrowse link
G KIFC2 kinesin family member C2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:324,623...332,221
Ensembl chr 4:324,626...331,917 		JBrowse link
G LOC100152459 cysteine and histidine-rich protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:335,139...348,472
Ensembl chr 4:335,301...346,534 		JBrowse link
G LOC110260198 ly6/PLAUR domain-containing protein 2-like ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,461,565...1,463,707
Ensembl chr 4:1,461,588...1,465,796 		JBrowse link
G LY6D lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,444,029...1,445,714
Ensembl chr 4:1,444,114...1,445,712 		JBrowse link
G LY6E lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,336,112...1,341,112
Ensembl chr 4:1,337,196...1,340,786 		JBrowse link
G LY6H lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,268,671...1,271,896
Ensembl chr 4:1,269,466...1,271,893 		JBrowse link
G LYNX1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,450,112...1,455,000
Ensembl chr 4:1,450,147...1,455,889 		JBrowse link
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:597,410...600,520
Ensembl chr 4:597,472...600,447 		JBrowse link
G MAFA MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,090,018...1,093,600
Ensembl chr 4:1,091,263...1,092,818 		JBrowse link
G MAPK15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:909,266...915,537
Ensembl chr 4:909,268...915,475 		JBrowse link
G MFSD3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:293,707...295,955
Ensembl chr 4:293,708...295,789 		JBrowse link
G MROH1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:507,223...577,859
Ensembl chr 4:507,228...577,132 		JBrowse link
G MROH6 maestro heat like repeat family member 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:988,367...994,613
Ensembl chr 4:988,185...993,815 		JBrowse link
G NAPRT nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:983,428...986,750
Ensembl chr 4:983,423...986,748 		JBrowse link
G NRBP2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:800,722...808,031
Ensembl chr 4:800,063...807,174 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:629,901...639,420
Ensembl chr 4:629,870...639,406 		JBrowse link
G PARP10 poly(ADP-ribose) polymerase family member 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:688,511...695,808 JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy OMIM
ClinVar		 PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 More... NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:812,137...824,321
Ensembl chr 4:812,131...824,318 		JBrowse link
G PYCR3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:959,709...964,195
Ensembl chr 4:959,710...964,192 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
G RHPN1 rhophilin Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,123,098...1,133,030
Ensembl chr 4:1,123,105...1,132,966 		JBrowse link
G SCRIB scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:824,925...852,360
Ensembl chr 4:825,062...852,664 		JBrowse link
G SCRT1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:443,100...449,113
Ensembl chr 4:443,311...447,677 		JBrowse link
G SCX scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:500,884...503,276
Ensembl chr 4:500,526...503,193 		JBrowse link
G SHARPIN SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:600,698...605,711
Ensembl chr 4:600,698...605,701 		JBrowse link
G SLC39A4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:372,681...378,519
Ensembl chr 4:372,660...378,516 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384 		JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:642,962...665,330
Ensembl chr 4:643,094...664,649 		JBrowse link
G TIGD5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:964,727...969,391
Ensembl chr 4:967,370...969,283 		JBrowse link
G TMEM249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:428,339...430,393
Ensembl chr 4:428,535...431,282 		JBrowse link
G TONSL tonsoku like, DNA repair protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:349,992...361,749
Ensembl chr 4:350,060...362,167 		JBrowse link
G TOP1MT DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,134,179...1,188,149
Ensembl chr 4:1,148,890...1,188,130 		JBrowse link
G VPS28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:362,902...368,038
Ensembl chr 4:362,912...370,588 		JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,009,927...1,084,133
Ensembl chr 4:1,010,638...1,089,738 		JBrowse link
G ZNF623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:928,786...950,917
Ensembl chr 4:928,798...940,679 		JBrowse link
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CFB complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G LTA lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G VDR vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
Exertional Myalgia, Muscle Stiffness and Myoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO ClinVar Annotator: match by term: Exertional myalgia, muscle stiffness and myoglobinuria ClinVar PMID:19367636 PMID:21104870 PMID:25637381 PMID:25741868 PMID:26365249 More... NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
Facial Dysmorphism with Multiple Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
facioscapulohumeral muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G DCN decorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,682,658...91,714,235 		JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO OMIM:158900 | OMIM:158901 MouseDO NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715 		JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 2:135,345,724...135,391,112
Ensembl chr 2:135,345,867...135,391,108 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO OMIM:158900 | OMIM:158901 MouseDO
G LUM lumican ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 5:91,748,871...91,756,381
Ensembl chr 5:91,748,885...91,757,598 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO RGD PMID:15551024 RGD:1580621 NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		JBrowse link
facioscapulohumeral muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRG1 FSHD region gene 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:5,780,847...5,800,503
Ensembl chr17:5,780,866...5,800,464 		JBrowse link
facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMILIN2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:103,730,618...103,786,921
Ensembl chr 6:103,730,626...103,786,927 		JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: SMCHD1-related condition | ClinVar Annotator: match by term: Weakness of facial musculature OMIM
ClinVar		 PMID:672092 PMID:8723126 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335 		JBrowse link
facioscapulohumeral muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRIF1 ligand dependent nuclear receptor interacting factor 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic OMIM
ClinVar		 PMID:32467133 NCBI chr 4:109,271,562...109,292,313
Ensembl chr 4:109,271,728...109,292,310 		JBrowse link
facioscapulohumeral muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT3B DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic OMIM
ClinVar		 PMID:25741868 PMID:27153398 PMID:28492532 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar		 PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More... NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar		 PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096 		JBrowse link
Familial Idiopathic Inflammatory Myopathy 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: Familial idiopathic inflammatory myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 susceptibility ISO DNA:snp:cds:p.R620W (rs2476601) (human) RGD PMID:18821667 RGD:11535001 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099 		JBrowse link
fatal infantile hypertonic myofibrillar myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy | ClinVar Annotator: match by term: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED OMIM
ClinVar		 PMID:1560021 PMID:2299599 PMID:11013455 PMID:16483541 PMID:16793013 More... NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530 		JBrowse link
fibromyalgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase ISO protein:decreased activity:mononuclear cell: RGD PMID:22532869 RGD:9479066 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:decreased expression:plasma RGD PMID:19924498 RGD:14995946 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G COMT catechol-O-methyltransferase severity ISO DNA:polymorphism:cds:p.V158M(human) RGD PMID:24762091 RGD:13450944 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998 		JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO protein:increased expression:serum (human) RGD PMID:10341365 RGD:8549787
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related OMIM
ClinVar		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
G MYH1 myosin, heavy chain 1, skeletal muscle, adult ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741914 NCBI chr12:55,225,581...55,251,495
Ensembl chr12:55,225,590...55,249,340 		JBrowse link
glycogen storage disease VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIF1A hypoxia inducible factor 1 subunit alpha ISO OMIM:232800 MouseDO NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G PFKM phosphofructokinase, muscle ISO ClinVar Annotator: match by term: Glycogen storage disease, type VII | ClinVar Annotator: match by term: Tarui disease OMIM
ClinVar		 PMID:1833270 PMID:2140573 PMID:7479776 PMID:7513946 PMID:7603526 More... NCBI chr 5:78,475,473...78,525,052
Ensembl chr 5:78,476,123...78,526,997 		JBrowse link
GNE myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENG endoglin ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:15266205 PMID:17786384 PMID:22022569 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: GNE myopathy | ClinVar Annotator: match by term: Inclusion body myopathy 2 | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing OMIM
ClinVar		 PMID:2402797 PMID:2473753 PMID:2808337 PMID:5182749 PMID:9536098 More... NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G SQSTM1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938 		JBrowse link
hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Myosin storage myopathy ClinVar NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Hyaline body myopathy | ClinVar Annotator: match by term: Myosin storage myopathy ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBB2 amyloid beta precursor protein binding family B member 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,921,587...32,302,237
Ensembl chr 8:31,921,593...32,193,940 		JBrowse link
G CHRNA9 cholinergic receptor nicotinic alpha 9 subunit ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,430,933...31,456,385
Ensembl chr 8:31,443,043...31,456,384 		JBrowse link
G FAM114A1 family with sequence similarity 114 member A1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,191,950...30,274,167
Ensembl chr 8:30,114,635...30,274,164 		JBrowse link
G KLB klotho beta ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,653,434...30,696,123
Ensembl chr 8:30,653,572...30,691,349 		JBrowse link
G KLHL5 kelch like family member 5 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,361,584...30,440,730
Ensembl chr 8:30,361,338...30,440,750 		JBrowse link
G LIAS lipoic acid synthetase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency OMIM
ClinVar		 PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr 8:30,699,278...30,717,009
Ensembl chr 8:30,699,330...30,720,335 		JBrowse link
G LIMCH1 LIM and calponin homology domains 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:32,433,035...32,792,553
Ensembl chr 8:32,433,318...32,792,546 		JBrowse link
G N4BP2 NEDD4 binding protein 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,216,942...31,287,993
Ensembl chr 8:31,219,397...31,287,990 		JBrowse link
G NSUN7 NOP2/Sun RNA methyltransferase family member 7 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,810,012...31,920,145
Ensembl chr 8:31,810,320...31,925,472 		JBrowse link
G PDS5A PDS5 cohesin associated factor A ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,988,366...31,134,331
Ensembl chr 8:30,988,370...31,134,331 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,842,145...32,846,127 		JBrowse link
G RBM47 RNA binding motif protein 47 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,508,133...31,690,757
Ensembl chr 8:31,508,148...31,690,409 		JBrowse link
G RFC1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,552,369...30,635,932
Ensembl chr 8:30,552,400...30,635,867 		JBrowse link
G RHOH ras homolog family member H ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:31,321,005...31,372,366
Ensembl chr 8:31,321,059...31,372,364 		JBrowse link
G RPL9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 8:30,693,198...30,699,189
Ensembl chr 8:30,694,388...30,699,189 		JBrowse link
G SMIM14 small integral membrane protein 14 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,765,417...30,840,416
Ensembl chr 8:30,765,418...30,840,434 		JBrowse link
G TLR1 toll like receptor 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466 		JBrowse link
G TLR10 toll like receptor 10 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,124,895...30,134,854
Ensembl chr 8:30,124,895...30,134,854 		JBrowse link
G TLR6 toll like receptor 6 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650 		JBrowse link
G TMEM156 transmembrane protein 156 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,289,424...30,342,633
Ensembl chr 8:30,289,407...30,342,600 		JBrowse link
G UBE2K ubiquitin conjugating enzyme E2 K ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,887,784...30,961,685
Ensembl chr 8:30,887,830...30,963,762 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:32,353,766...32,367,288
Ensembl chr 8:32,353,246...32,367,332 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 8:30,725,281...30,759,359
Ensembl chr 8:30,725,288...30,759,326 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		JBrowse link
inclusion body myopathy and brain white matter abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA11 annexin A11 ISO ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 More... NCBI chr14:81,835,205...81,879,565
Ensembl chr14:81,835,194...81,879,372 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 OMIM
ClinVar		 PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2		 OMIM
ClinVar		 PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 More... NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,856 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 OMIM
ClinVar		 PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417 		JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGF epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:23455423 RGD:10395280 NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,856 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ClinVar PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
inclusion body myositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CD36 CD36 molecule ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CLU clusterin ISO RGD PMID:15912881 RGD:1626306 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764 		JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO protein:increased expression:muscle: RGD PMID:18191026 RGD:10395231 NCBI chr 2:150,612,845...150,662,431
Ensembl chr 2:150,612,077...150,662,284 		JBrowse link
G DAG1 dystroglycan 1 ISO RGD PMID:14972325 RGD:11537409 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G FAS Fas cell surface death receptor ISO mRNA,protein:increased expression:muscle RGD PMID:9450780 RGD:12903959 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Inclusion body myositis ClinVar PMID:25741868 NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G MYH2 myosin, heavy chain 2, skeletal muscle, adult ISO IBM3, OMIM:605637, DNA:point mutation:exon:E706K RGD PMID:11114175 RGD:1600532 NCBI chr12:55,252,974...55,278,820 JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:11837748 RGD:1581257 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G VCP valosin containing protein ISO IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
Intranuclear Rod Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Intranuclear rod myopathy ClinVar PMID:24787270 PMID:25741868 PMID:33667896 PMID:34440373 NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
isolated mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H22orf15 chromosome 14 C22orf15 homolog ISO ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance ClinVar PMID:28492532 NCBI chr14:49,924,196...49,926,033
Ensembl chr14:49,923,613...49,926,264 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance | ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant OMIM
ClinVar		 PMID:4104978 PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 More... NCBI chr14:49,921,600...49,923,529
Ensembl chr14:49,921,595...49,923,526 		JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO OMIM:530000 MouseDO NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731 		JBrowse link
King Denborough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 susceptibility ISO ClinVar Annotator: match by term: King Denborough syndrome | ClinVar Annotator: match by term: King syndrome OMIM
ClinVar		 PMID:16940 PMID:18253 PMID:18564 PMID:1329581 PMID:1510267 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
Klippel-Feil syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO18B myosin XVIIIB ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25748484 More... NCBI chr14:43,467,823...43,687,729
Ensembl chr14:43,468,514...43,687,727 		JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 OMIM
ClinVar		 PMID:17701898 PMID:25741868 NCBI chr 2:74,977,266...75,046,898
Ensembl chr 2:74,977,274...75,046,895 		JBrowse link
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: Limb-girdle muscular dystrophy ClinVar PMID:23606453 PMID:24022920 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
G ASTN2 astrotactin 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 PMID:28492532 PMID:30823891 PMID:35055178 NCBI chr 1:256,825,466...257,740,676
Ensembl chr 1:256,825,486...257,740,977 		JBrowse link
G ATL1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 NCBI chr 1:180,299,434...180,407,003
Ensembl chr 1:180,299,256...180,405,837 		JBrowse link
G BVES blood vessel epicardial substance ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 PMID:31119192 NCBI chr 1:71,316,354...71,360,255
Ensembl chr 1:71,314,274...71,360,175 		JBrowse link
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:11371436 PMID:15221789 PMID:16141003 PMID:18854869 PMID:19226146 More... NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15318349 More... NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,795...65,131,273 		JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23687351 PMID:30055862 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr18:1,444,737...1,499,904
Ensembl chr18:1,444,739...1,499,887 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 PMID:36745799 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957 		JBrowse link
G LMNA lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814726 PMID:12032588 PMID:30055862 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G MYOT myotilin ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:139,899,245...139,919,095
Ensembl chr 2:139,861,004...139,919,089 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr13:65,134,055...65,155,543
Ensembl chr13:65,134,057...65,153,487 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G SGCD sarcoglycan delta severity ISO RGD PMID:10481911 RGD:13605616 NCBI chr16:66,447,982...67,481,709
Ensembl chr16:66,452,178...66,887,924 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:23830518 PMID:24033266 PMID:26322222 PMID:27707803 PMID:28492532 More... NCBI chr15:44,989,636...45,040,766
Ensembl chr15:44,989,636...45,040,761 		JBrowse link
G TRIM32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 PMID:28492532 PMID:30823891 PMID:35055178 NCBI chr 1:257,051,421...257,066,911
Ensembl chr 1:257,054,228...257,066,909 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Muscular Dystrophies, Limb-Girdle ClinVar PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
megaconial type congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADM2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 5:254,397...255,478
Ensembl chr 5:253,396...255,601 		JBrowse link
G CHKB choline kinase beta ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy OMIM
ClinVar		 PMID:7767093 PMID:9427222 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 5:151,638...155,176
Ensembl chr 5:151,638...155,176 		JBrowse link
G CIMAP1B ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 5:215,972...217,973
Ensembl chr 5:215,967...217,974 		JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 5:155,552...163,536
Ensembl chr 5:155,643...163,531 		JBrowse link
G KLHDC7B kelch domain containing 7B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 5:202,137...203,951
Ensembl chr 5:202,137...203,951 		JBrowse link
G LMF2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 5:233,601...238,266
Ensembl chr 5:233,401...238,266 		JBrowse link
G MIOX myo-inositol oxygenase ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 5:249,312...251,547
Ensembl chr 5:248,235...251,553 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 5:260,779...284,512
Ensembl chr 5:260,935...284,509 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
G SYCE3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 5:168,908...201,037
Ensembl chr 5:181,056...200,832 		JBrowse link
MELAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:7496173 PMID:15823923 PMID:18587274 PMID:25741868 NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22638077 PMID:32906214 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:15466014 PMID:15972314 PMID:16849371 PMID:16969869 PMID:17535832 More... NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1323207 PMID:3395302 PMID:8213827 NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:9299505 PMID:10589546 PMID:11102991 PMID:11198278 PMID:12509858 More... NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:11781695 NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22499341 NCBI chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: MELAS syndrome ClinVar PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
MERRF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: MERRF syndrome ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868 NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZC4H2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability OMIM
ClinVar		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980 		JBrowse link
mitochondrial complex IV deficiency nuclear type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 OMIM
ClinVar		 PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More... NCBI chr14:56,751,142...56,758,956 JBrowse link
mitochondrial complex IV deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COA6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:56,751,142...56,758,956 JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,619...110,894,992 		JBrowse link
G LOC100524554 cytochrome c oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:55,677,042...55,687,828
Ensembl chr 3:55,677,073...55,699,542 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 OMIM
ClinVar		 PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 More... NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
mitochondrial complex IV deficiency nuclear type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM
ClinVar		 PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More... NCBI chr14:110,875,614...110,895,044
Ensembl chr14:110,875,619...110,894,992 		JBrowse link
mitochondrial complex IV deficiency nuclear type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100524554 cytochrome c oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM
ClinVar		 PMID:21457908 NCBI chr 3:55,677,042...55,687,828
Ensembl chr 3:55,677,073...55,699,542 		JBrowse link
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:28492532 NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049 		JBrowse link
G JPH1 junctophilin 1 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:28492532 NCBI chr 4:61,628,304...61,716,550
Ensembl chr 4:61,628,299...61,716,544 		JBrowse link
G LY96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ClinVar PMID:21147908 PMID:28492532 NCBI chr 4:61,919,806...61,950,712
Ensembl chr 4:61,926,064...61,950,697 		JBrowse link
G TMEM70 transmembrane protein 70 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 OMIM
ClinVar		 PMID:1895334 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18953340 More... NCBI chr 4:61,958,605...61,966,041
Ensembl chr 4:61,958,605...61,966,024 		JBrowse link
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGME1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11 OMIM
ClinVar		 PMID:23313956 PMID:25741868 PMID:28097321 PMID:28492532 PMID:28711739 NCBI chr17:26,381,561...26,395,201
Ensembl chr17:26,369,875...26,395,192 		JBrowse link
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant ClinVar PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 More... NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:27693233 PMID:28492532 PMID:32827528 NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		JBrowse link
mitochondrial DNA depletion syndrome 12b 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: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive OMIM
ClinVar		 PMID:7609449 PMID:8479824 PMID:9207786 PMID:16155110 PMID:21549803 More... NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		JBrowse link
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXL4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM
ClinVar		 PMID:16199547 PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 More... NCBI chr 1:65,872,119...65,936,442
Ensembl chr 1:65,872,123...65,935,703 		JBrowse link
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) ClinVar
OMIM		 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPV17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ClinVar PMID:16582910 PMID:16909392 PMID:17694548 PMID:19520594 PMID:23714749 More... NCBI chr 3:111,823,075...111,833,929
Ensembl chr 3:111,821,690...111,833,928 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) OMIM
ClinVar		 PMID:25741868 PMID:27448789 PMID:28492532 NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731 		JBrowse link
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917 		JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,216,305...19,220,913
Ensembl chr11:19,219,077...19,220,347 		JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926 		JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,528 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) ClinVar PMID:15877282 PMID:17301081 PMID:26475597 PMID:28492532 NCBI chr11:19,081,841...19,182,488
Ensembl chr11:19,106,531...19,182,484 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM
ClinVar		 PMID:9536098 PMID:15877282 PMID:16199547 PMID:17287286 PMID:17301081 More... NCBI chr11:19,616,415...19,670,667
Ensembl chr11:19,616,495...19,670,662 		JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr10:66,996,919...67,021,692
Ensembl chr10:66,996,954...67,047,235 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: mitochondrial hepatopathy OMIM
ClinVar		 PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17614277 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		JBrowse link
mitochondrial DNA depletion syndrome 8A 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency		 ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease		 OMIM
ClinVar		 PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 More... NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
mitochondrial DNA depletion syndrome 8b 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: Mitochondrial DNA depletion syndrome 8B (MNGIE type) OMIM
ClinVar		 PMID:19125351 PMID:19667227 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		JBrowse link
mitochondrial encephalomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ7 coenzyme Q7, hydroxylase ISO protein:decreased expression:heart (mouse) RGD PMID:23255162 RGD:10402107 NCBI chr 3:26,366,006...26,373,604
Ensembl chr 3:26,366,000...26,373,584 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 7:3,193,433...3,557,413
Ensembl chr 7:3,262,396...3,557,407 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:23993194 PMID:25558065 PMID:25741868 PMID:25868664 PMID:27743463 More... NCBI chr 1:65,872,119...65,936,442
Ensembl chr 1:65,872,123...65,935,703 		JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20858599 NCBI chr 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952 		JBrowse link
G MFF mitochondrial fission factor ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:22499341 PMID:25558065 NCBI chr15:128,768,441...128,799,355
Ensembl chr15:128,768,348...128,799,344 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar PMID:11047755 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO CTD Direct Evidence: marker/mechanism CTD PMID:20598281 NCBI chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 6:98,819,156...98,852,561
Ensembl chr 6:98,815,885...98,852,524 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:mutations:cds:p.N846S, p.P587L(human) RGD PMID:12825077 RGD:8694177 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 PMID:23345593 NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307 		JBrowse link
G SLIRP SRA stem-loop interacting RNA binding protein ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy ClinVar NCBI chr 7:100,710,472...100,718,290
Ensembl chr 7:100,710,234...100,720,374 		JBrowse link
G TMEM70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953340 NCBI chr 4:61,958,605...61,966,041
Ensembl chr 4:61,958,605...61,966,024 		JBrowse link
Mitochondrial Encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:25741868 NCBI chr 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA:mutations: :m. 10191T>C, 10158T>C(human) RGD PMID:14705112 RGD:5507824 NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Mitochondrial encephalopathy ClinVar PMID:25741868 PMID:30190335 NCBI chr 6:48,126,470...48,134,664
Ensembl chr 6:48,126,991...48,139,357 		JBrowse link
mitochondrial myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCK2 aarF domain containing kinase 2 ISO OMIM:251900 MouseDO NCBI chr18:9,153,832...9,173,009
Ensembl chr18:9,153,839...9,173,007 		JBrowse link
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 3:95,688,400...96,092,028
Ensembl chr 3:95,688,405...96,092,078 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO OMIM:251900 MouseDO NCBI chr12:58,011,831...58,110,575
Ensembl chr12:58,011,817...58,109,185 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 ISO DNA:mutations:cds: RGD PMID:23352259 RGD:10401079 NCBI chr14:71,550,405...71,607,067
Ensembl chr14:71,552,121...71,610,740 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO mRNA:increased expression:muscle: RGD PMID:23107834 RGD:8694159 NCBI chr 4:63,970,939...64,328,107
Ensembl chr 4:63,970,807...64,328,105 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28430790 PMID:28492532 More... NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:28027978 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:25741868 PMID:28492532 NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,584...23,418,132 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17486094 PMID:19138848 NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987 		JBrowse link
G SLC25A42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576 NCBI chr 2:58,753,363...58,803,356
Ensembl chr 2:58,753,371...58,801,832 		JBrowse link
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Mitochondrial Myopathies ClinVar PMID:25741868 PMID:28492532 PMID:29783828 PMID:33013660 PMID:35289132 NCBI chr 6:27,226,421...27,255,645
Ensembl chr 6:27,226,425...27,255,574 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G VDAC1 voltage dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8726225 NCBI chr 2:136,302,188...136,334,461
Ensembl chr 2:136,302,191...136,396,301 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA8 patatin like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis OMIM
ClinVar		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chr 9:108,271,343...108,320,574
Ensembl chr 9:108,269,830...108,320,267 		JBrowse link
Mitochondrial Myopathy, and Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28544275 PMID:28554942 PMID:29339779 More... NCBI chr 4:94,248,203...94,252,624
Ensembl chr 4:94,248,230...94,253,034 		JBrowse link
Mitochondrial Myopathy, Infantile, Transient term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT ClinVar PMID:25741868 NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:12414820 NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:8186719 PMID:8910895 PMID:8988236 PMID:10502593 PMID:11464242 More... NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient | ClinVar Annotator: match by term: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT ClinVar PMID:25741868 NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar PMID:20018511 PMID:25741868 PMID:32906214 NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G ND2 NADH dehydrogenase subunit 2 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient ClinVar NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128 		JBrowse link
Mitochondrial Myopathy, Lethal Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMU tRNA mitochondrial 2-thiouridylase ISO DNA:mutations:multiple RGD PMID:23625533 RGD:21066346 NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,208,118...3,224,366 		JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM
ClinVar		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
Miyoshi 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: Miyoshi myopathy ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive ClinVar PMID:12796534 PMID:14678801 PMID:15469449 PMID:17512949 PMID:17897828 More... NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 OMIM
ClinVar		 PMID:2606004 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 More... NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
Miyoshi muscular dystrophy 3 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: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3 OMIM
ClinVar		 PMID:9673985 PMID:17132147 PMID:18414213 PMID:20096397 PMID:20692837 More... NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Miyoshi myopathy 3 ClinVar PMID:25326637 PMID:25741868 PMID:26741492 PMID:28492532 PMID:30642748 More... NCBI chr 4:41,619,480...41,655,682
Ensembl chr 4:41,621,174...41,655,792 		JBrowse link
muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435
G AMPD1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,769 		JBrowse link
G APAF1 apoptotic peptidase activating factor 1 ISO mRNA:decreased expression:skeletal muscle tissue RGD PMID:17029665 RGD:2325745 NCBI chr 5:85,166,616...85,258,751
Ensembl chr 5:85,166,628...85,258,364 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO RGD PMID:23792145 RGD:10059412 NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Muscular atrophy ClinVar PMID:25741868 PMID:31227654 NCBI chr10:23,503,701...23,567,797
Ensembl chr10:23,502,898...23,568,058 		JBrowse link
G CAST calpastatin ISO protein:increased expression:gastrocnemius (rat) RGD PMID:28800153 RGD:405100967 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623 		JBrowse link
G CCNG1 cyclin G1 ISO associated with microgravity; mRNA:increased expression:gastrocnemius (rat) RGD PMID:14638460 RGD:151361116 NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738 		JBrowse link
G CFL1 cofilin 1 ISO protein:decreased phosphorylation:gastrocnemius (rat) RGD PMID:24711688 RGD:11570530 NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035 		JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex treatment ISO RGD PMID:18827022 RGD:7495773 NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,315,141...111,351,868 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19032942 NCBI chr 1:25,155,652...25,158,517
Ensembl chr 1:25,155,664...25,160,279 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO RGD PMID:17916675 RGD:7257536 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscular atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO RGD PMID:21235761 RGD:5130936 NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467 		JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G CTSL cathepsin L ISO mRNA:increased expression:soleus (rat) RGD PMID:16928772 RGD:2315576 NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618 		JBrowse link
G DAG1 dystroglycan 1 ISO protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Muscular atrophy ClinVar PMID:25741868 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G ENDOG endonuclease G ISO RGD PMID:15650125 RGD:9685359 NCBI chr 1:269,153,955...269,157,789
Ensembl chr 1:269,154,090...269,157,788 		JBrowse link
G FABP4 fatty acid binding protein 4 ISO associated with microgravity; mRNA:increased expression:gastrocnemius (rat) RGD PMID:14638460 RGD:151361116 NCBI chr 4:55,096,400...55,101,209
Ensembl chr 4:55,096,404...55,101,896 		JBrowse link
G FBXO32 F-box protein 32 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:11679633 PMID:21139329 RGD:633893 NCBI chr 4:15,895,875...15,925,929
Ensembl chr 4:15,895,689...15,930,931 		JBrowse link
G FST follistatin ISO CTD Direct Evidence: therapeutic CTD PMID:33034787 NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,932...32,811,421 		JBrowse link
G GHR growth hormone receptor ISO mRNA:increased expression:soleus
associated with microgravity; mRNA:increased expression:gastrocnemius (rat)		 RGD PMID:12865352 PMID:14638460 RGD:151361116 RGD:2307376 NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569 		JBrowse link
G HSF1 heat shock transcription factor 1 treatment ISO RGD PMID:21983076 RGD:10402941 NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473 		JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 ISO mRNA:decreased expression:soleus muscle (rat) RGD PMID:21639837 RGD:5686383 NCBI chr 7:39,237,299...39,250,479
Ensembl chr 7:39,244,458...39,250,481 		JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:18827022 RGD:7495773 NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,549 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16723379 NCBI chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111 		JBrowse link
G KIF16B kinesin family member 16B ISO ClinVar Annotator: match by term: Muscular atrophy ClinVar PMID:25741868 NCBI chr17:24,882,139...25,188,990
Ensembl chr17:24,882,142...25,186,703 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO associated with microgravity; mRNA:increased expression:gastrocnemius (rat) RGD PMID:14638460 RGD:151361116 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LOC100157391 mitochondrial import inner membrane translocase subunit Tim23 ISO RGD PMID:20943961 RGD:13463487 NCBI chr14:90,480,955...90,506,134
Ensembl chr14:90,481,070...90,506,642 		JBrowse link
G MSTN myostatin ISO associated with Addison's Disease
mRNA, protein:altered expression:skeletal muscle		 RGD PMID:15738643 PMID:15758361 RGD:2303594 RGD:2303596 NCBI chr15:94,623,526...94,628,440
Ensembl chr15:94,620,270...94,628,545 		JBrowse link
G MTMR4 myotubularin related protein 4 ISO protein:decreased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr12:34,745,232...34,771,315
Ensembl chr12:34,745,236...34,771,167 		JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:19260063 RGD:10041027 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO protein:increased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr 1:115,941,945...116,069,884
Ensembl chr 1:115,941,940...116,070,305 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO protein:altered expression:nucleus RGD PMID:17622304 RGD:4892297 NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Muscular atrophy ClinVar PMID:1067063 PMID:2391551 PMID:3476861 PMID:8316268 PMID:8401511 More... NCBI chr 2:7,409,330...7,421,256
Ensembl chr 2:7,409,116...7,421,254 		JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit ISO protein:decreased localization:soleus, nucleus RGD PMID:11919155 RGD:7777164 NCBI chr 6:51,444,670...51,480,350
Ensembl chr 6:51,444,664...51,480,319 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:decreased expression, decreased phosphorylation:soleus RGD PMID:17885021 RGD:1642984 NCBI chr12:36,111,584...36,159,287
Ensembl chr12:36,111,653...36,160,376 		JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA:increased expression:muscle RGD PMID:19574431 RGD:4144861 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SGCA sarcoglycan alpha ISO protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,777...26,371,600 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24163136 PMID:29374221 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G TFRC transferrin receptor ISO mRNA:decreased expression:gastrocnemius RGD PMID:18395385 RGD:2292027 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:14718385 RGD:1641826 NCBI chr 6:103,226,395...103,234,591
Ensembl chr 6:103,226,402...103,234,610 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24534773 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TOMM20 translocase of outer mitochondrial membrane 20 ISO RGD PMID:20943961 RGD:13463487 NCBI chr14:56,113,087...56,127,686
Ensembl chr14:56,113,192...56,127,677 		JBrowse link
G TRIM63 tripartite motif containing 63 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:gastrocnemius 		CTD
RGD		 PMID:11679633 PMID:21139329 RGD:633893 NCBI chr 6:83,493,200...83,507,471
Ensembl chr 6:83,492,633...83,507,502 		JBrowse link
G TTPA alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 4:70,960,580...70,980,883
Ensembl chr 4:70,961,465...70,980,876 		JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547 		JBrowse link
G UCP3 uncoupling protein 3 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,021...8,386,211 		JBrowse link
G WWTR1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24550007 NCBI chr13:89,742,980...89,889,547
Ensembl chr13:89,742,886...89,889,187 		JBrowse link
muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACHE acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605 		JBrowse link
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:21186264 PMID:23606453 PMID:25741868 PMID:25891276 PMID:28492532 More... NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr13:104,946,732...105,007,568 JBrowse link
G CAPN3 calpain 3 susceptibility ISO Muscular Dystrophies, Limb-Girdle, type 2A, OMIM:114240;DNA:mutations
ClinVar Annotator: match by term: Muscular dystrophy		 RGD
ClinVar		 PMID:7720071 PMID:9150160 PMID:9266733 PMID:10330340 PMID:10679950 More... RGD:1600769 NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G CAV3 caveolin 3 susceptibility ISO DNA:missense mutation, deletion RGD PMID:9537420 RGD:1599529 NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,795...65,131,273 		JBrowse link
G CHKB choline kinase beta ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 NCBI chr 5:151,638...155,176
Ensembl chr 5:151,638...155,176 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:16199547 PMID:18366090 PMID:20976770 PMID:21280092 PMID:24801232 More...
G COL6A3 collagen type VI alpha 3 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:missense mutation
ClinVar Annotator: match by term: Muscular dystrophy		 RGD
ClinVar		 PMID:9536084 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 More... RGD:1600940 NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G DAG1 dystroglycan 1 ISO protein:decreased glycosylation:skeletal muscle RGD PMID:11381262 RGD:1358757 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:1549142 PMID:2063877 PMID:9327405 PMID:10465346 PMID:11185740 More... NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G DTHD1 death domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:23105016 PMID:28492532 NCBI chr 8:27,997,486...28,073,879
Ensembl chr 8:27,998,500...28,072,309 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:17698709 PMID:20301480 PMID:21522182 PMID:24033266 PMID:25741868 More... NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:17336067 PMID:25741868 PMID:28492532 PMID:29065428 PMID:31041397 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G FKTN fukutin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutations, nonsense mutation:exon, intron:multiple
DNA:missense mutations, nonsense mutation:exon:multiple
DNA:missense mutations:exon:c.340G>A, c.527T>C (human)		 RGD
CTD		 PMID:10852541 PMID:16531417 PMID:19179078 PMID:19342235 PMID:20961758 RGD:11070464 RGD:11576323 RGD:11576325 RGD:11576326 NCBI chr 1:246,852,387...246,916,650 JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar NCBI chr12:2,315,807...2,339,867
Ensembl chr12:2,314,591...2,336,988 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:23768512 PMID:24033266 PMID:24780531 PMID:25681410 PMID:25741868 More... NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:21549339 PMID:23449775 PMID:24458321 PMID:25741868 PMID:28492532 More... NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315 		JBrowse link
G LAMA2 laminin subunit alpha 2 susceptibility ISO DNA:splice-site mutation, nonsense mutation
ClinVar Annotator: match by term: Muscular dystrophy		 RGD
ClinVar		 PMID:7550355 PMID:25741868 PMID:28492532 RGD:1600200 NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,866,850...34,359,698 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:17878207 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:8619549 PMID:9106535 PMID:10080180 PMID:10739764 PMID:10814726 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC100623720 collagen alpha-1(VI) chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20716577 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		JBrowse link
G MYH2 myosin, heavy chain 2, skeletal muscle, adult ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 NCBI chr12:55,252,974...55,278,820 JBrowse link
G MYH8 myosin heavy chain 8 ISO protein:increased expression:muscle: RGD PMID:3513005 RGD:12914761 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,748 		JBrowse link
G MYOT myotilin ISO Limb-Girdle Muscular Dystrophy LGMD1A, OMIM:159000 RGD PMID:10958653 RGD:1599673 NCBI chr 2:139,899,245...139,919,095
Ensembl chr 2:139,861,004...139,919,089 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:18414213 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr15:546,187...766,131
Ensembl chr15:546,173...766,125 		JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr 3:33,857,059...33,892,472
Ensembl chr 3:33,857,068...33,892,701 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple (human) RGD PMID:17030669 RGD:1599152 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO DNA:mutations: :multiple RGD PMID:16575835 RGD:11532686 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:15894594 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 More... NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
G PRIMA1 proline rich membrane anchor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22906800 NCBI chr 7:115,038,626...115,101,431
Ensembl chr 7:115,038,630...115,100,756 		JBrowse link
G PTEN phosphatase and tensin homolog treatment ISO RGD PMID:24789910 RGD:12859039 NCBI chr14:99,929,590...100,021,619 JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr15:769,518...832,036
Ensembl chr15:774,191...832,010 		JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:16199547 More... NCBI chr 6:83,246,934...83,262,748
Ensembl chr 6:83,246,934...83,262,743 		JBrowse link
G SGCA sarcoglycan alpha ISO RGD PMID:8069911 PMID:9192266 PMID:9744877 RGD:13605611 RGD:1599344 RGD:1599345 NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,777...26,371,600 		JBrowse link
G SGCB sarcoglycan beta ISO autosomal recessive limb-girdle muscular dystrophies (LGMD type 2C-F), OMIM:600900 RGD PMID:9631401 RGD:1599343 NCBI chr 8:39,130,371...39,148,756
Ensembl chr 8:39,127,545...39,148,814 		JBrowse link
G SGCD sarcoglycan delta ISO Limb-girdle muscular dystrophies (LGMD), OMIM:601411 RGD PMID:8841194 RGD:1599341 NCBI chr16:66,447,982...67,481,709
Ensembl chr16:66,452,178...66,887,924 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:cds: c.323C>T, p.N108S(human) RGD PMID:25091525 RGD:13209008 NCBI chr 1:13,715,644...14,201,711 JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10235436 RGD:10449464 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:25741868 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
G TRIM32 tripartite motif containing 32 susceptibility ISO Limb-girdle muscular dystrophy type 2H, OMIM:254110;DNA:missense mutation:exon:p.D487N RGD PMID:11822024 RGD:1624127 NCBI chr 1:257,051,421...257,066,911
Ensembl chr 1:257,054,228...257,066,909 		JBrowse link
G TRIM63 tripartite motif containing 63 ISO mRNA:increased expression:muscle RGD PMID:24710205 RGD:14695084 NCBI chr 6:83,493,200...83,507,471
Ensembl chr 6:83,492,633...83,507,502 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Muscular dystrophy ClinVar PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:27493940 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
Muscular Dystrophy, Animal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22795790 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G FKRP fukutin related protein ISO DNA:missense mutation:exon:p.P448L (1343C>T) (mouse) RGD PMID:20675713 PMID:21224063 RGD:11667960 RGD:11667970 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:20008564 RGD:10040985 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO CTD Direct Evidence: therapeutic CTD PMID:22795790 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:32403198 PMID:35869884 NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,908,674...55,923,988 		JBrowse link
MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with or without seizures OMIM
ClinVar		 PMID:16199547 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 More... NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315 		JBrowse link
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 28 OMIM
ClinVar		 PMID:25741868 PMID:36745799 PMID:37167966 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957 		JBrowse link
muscular dystrophy-dystroglycanopathy 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: Muscular dystrophy-dystroglycanopathy ClinVar PMID:2522420 PMID:22522420 PMID:25741868 PMID:28492532 NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,422,317...85,710,750 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:10838249 PMID:11741828 PMID:12666124 PMID:12707439 PMID:14647208 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:23768512 PMID:25326637 PMID:25741868 PMID:26310427 PMID:27766311 More... NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
muscular dystrophy-dystroglycanopathy type B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817 		JBrowse link
G FKRP fukutin related protein ISO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G FKTN fukutin ISO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 1:246,852,387...246,916,650 JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
muscular dystrophy-dystroglycanopathy type B14 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: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 OMIM
ClinVar		 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 More... NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155 		JBrowse link
muscular dystrophy-dystroglycanopathy type B15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 OMIM
ClinVar		 PMID:31469168 NCBI chr 4:94,661,568...94,662,223
Ensembl chr 4:94,661,873...94,662,151 		JBrowse link
muscular dystrophy-dystroglycanopathy type B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:16701995 PMID:17576681 PMID:17634419 More... NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
muscular dystrophy-dystroglycanopathy type B3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
muscular dystrophy-dystroglycanopathy type B4 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: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED OMIM
ClinVar		 PMID:10545611 PMID:11165248 PMID:14627679 PMID:17044012 PMID:17597323 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
muscular dystrophy-dystroglycanopathy type B5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5 OMIM
ClinVar		 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPIFC BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:12,526,928...12,578,958
Ensembl chr 5:12,542,266...12,578,954 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:48,421,788...48,523,530
Ensembl chr14:48,421,880...48,523,593 		JBrowse link
G FBXO7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:12,505,646...12,526,206
Ensembl chr 5:12,505,654...12,526,232 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 OMIM
ClinVar		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17576681 More...
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:12,580,293...12,605,722
Ensembl chr 5:12,580,294...12,613,852 		JBrowse link
G SLC5A1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:48,566,400...48,704,145
Ensembl chr14:48,628,224...48,705,841 		JBrowse link
G SLC5A4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:48,708,047...48,741,440
Ensembl chr14:48,708,047...48,741,440 		JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:12,017,741...12,501,995
Ensembl chr 5:12,473,793...12,500,076 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
G YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:48,544,031...48,556,496
Ensembl chr14:48,544,173...48,556,490 		JBrowse link
muscular dystrophy-dystroglycanopathy type C12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMK protein O-mannose kinase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy due to POMK deficiency | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 OMIM
ClinVar		 PMID:24556084 PMID:24925318 PMID:25741868 PMID:28492532 PMID:29910097 More... NCBI chr17:11,957,615...11,978,919 JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 ClinVar PMID:12369018 PMID:15637732 PMID:16575835 PMID:25741868 PMID:28116189 More... NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
muscular dystrophy-dystroglycanopathy type C8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 OMIM
ClinVar		 PMID:25741868 PMID:27066570 PMID:28492532 PMID:32570172 NCBI chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133 		JBrowse link
Myoectodermal Gonadal Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy OMIM
ClinVar		 PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 More... NCBI chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME ClinVar PMID:25741868 NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428 		JBrowse link
myofascial pain syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NGF nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:21719352 RGD:5684340 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		JBrowse link
myofibrillar myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:21361913 PMID:21898660 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:10905661 PMID:14711882 PMID:14724127 PMID:15477095 PMID:16217025 More... NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant ClinVar PMID:25741868 PMID:26467025 PMID:27642634 PMID:28422763 PMID:28492532 NCBI chr18:1,444,737...1,499,904
Ensembl chr18:1,444,739...1,499,887 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:15929027 PMID:22961544 PMID:25741868 PMID:26472074 PMID:26969713 More... NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		JBrowse link
G KY kyphoscoliosis peptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:75,726,031...75,774,981
Ensembl chr13:75,726,041...75,774,986 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:4855680 PMID:9536098 PMID:15668942 PMID:17337483 PMID:17576681 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G MYOT myotilin ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:15111675 PMID:15947064 PMID:16684602 PMID:16793270 PMID:17784878 More... NCBI chr 2:139,899,245...139,919,095
Ensembl chr 2:139,861,004...139,919,089 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:51,994,793...52,020,844
Ensembl chr 5:51,993,717...52,020,809 		JBrowse link
myofibrillar myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,265,693...121,273,813
Ensembl chr15:121,266,127...121,273,812 		JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,254,355...121,265,564
Ensembl chr15:121,254,355...121,265,569 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,419,473...120,425,441
Ensembl chr15:120,419,473...120,425,439 		JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,985,069...120,990,864
Ensembl chr15:120,985,257...120,986,354 		JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,026,365...121,067,224
Ensembl chr15:121,026,245...121,062,738 		JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,590,354...120,622,203
Ensembl chr15:120,590,641...120,623,898 		JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,207,139...121,212,888
Ensembl chr15:121,207,142...121,212,766 		JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,013,611...121,016,869
Ensembl chr15:121,013,626...121,020,454 		JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,450,649...120,456,874
Ensembl chr15:120,450,760...120,456,871 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,192 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1 OMIM
ClinVar		 PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 More... NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991 		JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,391,746...121,404,138
Ensembl chr15:121,391,746...121,412,864 		JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,005,279...121,008,748
Ensembl chr15:121,004,665...121,009,014 		JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,271,844...121,285,091
Ensembl chr15:121,271,848...121,285,091 		JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,083,750...121,090,548
Ensembl chr15:121,083,753...121,090,121 		JBrowse link
G LDB3 LIM domain binding 3 ISO OMIM:601419 MouseDO NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,100,624...121,190,086
Ensembl chr15:121,100,628...121,190,062 		JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,660,549...120,695,731
Ensembl chr15:120,626,938...120,688,112 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,345,541...120,411,648
Ensembl chr15:120,387,113...120,410,476 		JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,859,486...120,866,308
Ensembl chr15:120,855,201...120,866,332 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,329,284...121,349,228
Ensembl chr15:121,329,287...121,349,168 		JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,364,165...121,371,430 JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,212,370...121,218,796
Ensembl chr15:121,212,881...121,218,812 		JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,712,242...120,719,773
Ensembl chr15:120,712,246...120,719,773 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar PMID:25741868 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,105,800...121,203,990
Ensembl chr15:121,195,246...121,203,985 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335 		JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,285,065...121,288,475
Ensembl chr15:121,284,920...121,288,473 		JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,719,635...120,747,832
Ensembl chr15:120,719,646...120,754,065 		JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,348,740...120,365,055
Ensembl chr15:120,348,735...120,365,007 		JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,748,537...120,791,825
Ensembl chr15:120,773,185...120,793,194 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr15:84,226,953...84,501,320 JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,290,149...121,294,048
Ensembl chr15:121,288,957...121,294,853 		JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,492,552...120,590,230
Ensembl chr15:120,493,739...120,590,216 		JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,463,470...120,494,772
Ensembl chr15:120,463,566...120,492,580 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430 		JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,901,471...120,917,359
Ensembl chr15:120,901,376...120,917,486 		JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:121,243,116...121,246,075
Ensembl chr15:121,243,116...121,246,068 		JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr15:120,688,836...120,707,743 JBrowse link
myofibrillar myopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SVIL supervillin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 10 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32779703 NCBI chr10:41,176,358...41,462,750
Ensembl chr10:41,282,412...41,462,764 		JBrowse link
myofibrillar myopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UNC45B unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH ECCENTRIC CORES | ClinVar Annotator: match by term: Myofibrillar myopathy 11 OMIM
ClinVar		 PMID:25741868 PMID:31852522 PMID:33217308 NCBI chr12:39,997,254...40,031,368
Ensembl chr12:39,994,194...40,030,966 		JBrowse link
Myofibrillar Myopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy OMIM
ClinVar		 PMID:8673105 PMID:09535554 PMID:9536098 PMID:9673982 PMID:11102452 More... NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,205,273...32,213,722 		JBrowse link
myofibrillar myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Myofibrillar myopathy 2 OMIM
ClinVar		 PMID:570292 PMID:8000975 PMID:9731540 PMID:11013455 PMID:12601044 More... NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530 		JBrowse link
myofibrillar myopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYOT myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction OMIM
ClinVar		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr 2:139,899,245...139,919,095
Ensembl chr 2:139,861,004...139,919,089 		JBrowse link
myofibrillar myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 4 OMIM
ClinVar		 PMID:4855680 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
myofibrillar myopathy 5 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: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr18:19,753,761...19,756,706
Ensembl chr18:19,753,506...19,756,648 		JBrowse link
G FLNB filamin B ISO ClinVar Annotator: match by term: FLNB-Related Disorders ClinVar PMID:16752402 PMID:16801345 PMID:20301736 PMID:22190451 PMID:25741868 More... NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,739...39,938,746 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related
ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related		 OMIM
ClinVar		 PMID:2781633 PMID:9536098 PMID:15929027 PMID:16199547 PMID:17412757 More... NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		JBrowse link
G IRF5 interferon regulatory factor 5 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243 		JBrowse link
G KCP kielin cysteine rich BMP regulator ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr18:19,689,111...19,741,641
Ensembl chr18:19,711,112...19,741,637 		JBrowse link
G TNPO3 transportin 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr18:19,572,555...19,673,165
Ensembl chr18:19,572,776...19,673,163 		JBrowse link
myofibrillar myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 6 | ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related OMIM
ClinVar		 PMID:2159883 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19085932 More... NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987 		JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO ClinVar Annotator: match by term: Myofibrillar myopathy 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:135,025,439...135,078,910 JBrowse link
myofibrillar myopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 7 ClinVar PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chr13:75,605,622...75,707,087
Ensembl chr13:75,605,675...75,707,102 		JBrowse link
G KY kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 7 OMIM
ClinVar		 PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chr13:75,726,031...75,774,981
Ensembl chr13:75,726,041...75,774,986 		JBrowse link
myofibrillar myopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 8 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27745833 PMID:28492532 More... NCBI chr 5:51,994,793...52,020,844
Ensembl chr 5:51,993,717...52,020,809 		JBrowse link
myofibrillar myopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure		 OMIM
ClinVar		 PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11310621 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
Myofibrillar Myopathy, ZASP-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy, ZASP-related ClinVar PMID:4855680 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
myoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSR glutathione-disulfide reductase ISO protein:decreased activity:kidney: RGD PMID:15452363 RGD:7257577 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		JBrowse link
G LDHA lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332213 NCBI chr 2:40,814,163...40,827,284
Ensembl chr 2:40,814,169...40,826,715 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 ISO RGD PMID:8447317 RGD:1599129 NCBI chr18:48,693,832...48,712,787
Ensembl chr18:48,710,347...48,713,862 		JBrowse link
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMPD1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Muscle AMP deaminase deficiency OMIM
ClinVar		 PMID:1631143 PMID:1922051 PMID:8335021 PMID:9536098 PMID:10996775 More... NCBI chr 4:105,868,834...105,892,171
Ensembl chr 4:105,868,897...105,893,769 		JBrowse link
Myopathy with Abnormal Lipid Metabolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COASY Coenzyme A synthase ISO ClinVar Annotator: match by term: Lipid storage myopathy ClinVar PMID:28492532 NCBI chr12:20,258,366...20,262,849
Ensembl chr12:20,258,373...20,262,795 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: FLAD1-related condition | ClinVar Annotator: match by term: Myopathy with abnormal lipid metabolism OMIM
ClinVar		 PMID:25741868 PMID:27259049 PMID:28492532 PMID:31392824 NCBI chr 4:94,807,280...94,813,512
Ensembl chr 4:94,807,287...94,813,575 		JBrowse link
myopathy with extrapyramidal signs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MICU1 mitochondrial calcium uptake 1 ISO ClinVar Annotator: match by term: Proximal myopathy with extrapyramidal signs OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:24336167 PMID:25741868 PMID:25741905 More... NCBI chr14:75,203,731...75,445,628
Ensembl chr14:75,203,752...75,445,626 		JBrowse link
Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MLIP muscular LMNA interacting protein ISO ClinVar Annotator: match by term: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis OMIM
ClinVar		 PMID:34581780 PMID:34935254 PMID:35672413 PMID:35915960 NCBI chr 7:26,562,802...26,801,817
Ensembl chr 7:26,561,359...26,793,724 		JBrowse link
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, actin, congenital, with excess of thin myofilaments ClinVar PMID:1351946 PMID:4952447 PMID:9401010 PMID:10508519 PMID:12921789 More... NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
Myopathy, Epilepsy, and Progressive Cerebral Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Myopathy, epilepsy, and progressive cerebral atrophy OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 4:122,343,345...122,464,301
Ensembl chr 4:122,343,405...122,459,119 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028 		JBrowse link
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,584...23,418,132 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition OMIM
ClinVar		 PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 More... NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,584...23,418,132 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:41,571,054...41,636,058
Ensembl chr 5:41,570,282...41,636,028 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM
ClinVar		 PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More... NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
Myosclerosis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis | ClinVar Annotator: match by term: Myosclerosis, autosomal recessive OMIM
ClinVar		 PMID:4793163 PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 More...
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myosclerosis ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532
myositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111B FAM111 trypsin like peptidase B ISO ClinVar Annotator: match by term: Myositis ClinVar PMID:25741868 NCBI chr 2:12,268,692...12,279,386
Ensembl chr 2:12,268,695...12,279,559 		JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19493236 RGD:5508428 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:16968394 RGD:8655903 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skeletal muscle (human)		 CTD
RGD		 PMID:10886238 PMID:18251582 RGD:8549795
G SRSF1 serine and arginine rich splicing factor 1 ISO protein:decreased expression:muscle (human) RGD PMID:16574722 RGD:11038773 NCBI chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23425968 NCBI chr16:19,455,294...19,486,735
Ensembl chr16:19,455,092...19,486,732 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:muscle: RGD PMID:10399751 RGD:7401187 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
myositis ossificans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,750,796...64,891,544 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:8678932 RGD:734648 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
myotonia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Myotonia generalized | ClinVar Annotator: match by term: Myotonia levior ClinVar PMID:758138 PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 More... NCBI chr18:6,902,540...6,941,530
Ensembl chr18:6,902,542...6,940,449 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Batten-Turner congenital myopathy ClinVar PMID:25741868 NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		JBrowse link
myotonic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNBP CCHC-type zinc finger nucleic acid binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:71,634,552...71,707,027
Ensembl chr13:71,630,566...71,646,563 		JBrowse link
G DMPK DM1 protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039817 PMID:27030674 NCBI chr 6:52,100,259...52,110,822
Ensembl chr 6:52,100,259...52,110,478 		JBrowse link
G MBNL1 muscleblind like splicing regulator 1 ISO MouseDO NCBI chr13:92,491,778...92,696,235
Ensembl chr13:92,491,808...92,696,230 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084293 NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Paramyotonia congenita/myotonia congenita ClinVar PMID:1338909 PMID:7980103 PMID:9618291 PMID:9660885 PMID:10682917 More... NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		JBrowse link
G STAU1 staufen double-stranded RNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27030674 NCBI chr17:50,804,959...50,903,155
Ensembl chr17:50,804,962...50,869,223 		JBrowse link
myotonic dystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNBP CCHC-type zinc finger nucleic acid binding protein ISO ClinVar Annotator: match by term: Myotonic Myopathy, Proximal ClinVar PMID:25741868 NCBI chr13:71,634,552...71,707,027
Ensembl chr13:71,630,566...71,646,563 		JBrowse link
G DMPK DM1 protein kinase ISO ClinVar Annotator: match by term: Myotonia atrophica | ClinVar Annotator: match by term: Steinert myotonic dystrophy syndrome OMIM
ClinVar		 PMID:18414213 PMID:25637381 PMID:25741868 NCBI chr 6:52,100,259...52,110,822
Ensembl chr 6:52,100,259...52,110,478 		JBrowse link
G LDB3 LIM domain binding 3 ISO mRNA, protein:alternative form:exon RGD PMID:24878509 RGD:12792205 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G RBFOX2 RNA binding fox-1 homolog 2 ISO protein:increased expression:heart (human) RGD PMID:32109384 RGD:329848958 NCBI chr 5:11,633,523...11,905,325
Ensembl chr 5:11,633,541...11,903,094 		JBrowse link
myotonic dystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNBP CCHC-type zinc finger nucleic acid binding protein ISO ClinVar Annotator: match by term: Myotonic dystrophy type 2 OMIM
ClinVar		 PMID:25741868 NCBI chr13:71,634,552...71,707,027
Ensembl chr13:71,630,566...71,646,563 		JBrowse link
Nakajo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Nodular erythema digital changes ClinVar PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 More... NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,465...25,062,245 		JBrowse link
NARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More... NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G ND2 NADH dehydrogenase subunit 2 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128 		JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365 		JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:10,868,208...10,966,801
Ensembl chr18:10,919,422...10,966,410 		JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr 5:22,549,008...22,556,330
Ensembl chr 5:22,549,010...22,719,054 		JBrowse link
nemaline myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Nemaline myopathy ClinVar PMID:19562689 PMID:23757202 PMID:25741868 PMID:27242277 PMID:28492532 More... NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:28492532 NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Nemaline Myopathy, Dominant ClinVar PMID:25741868 NCBI chr 1:163,113,280...163,116,889
Ensembl chr 1:163,113,324...163,116,887 		JBrowse link
G KLHL41 kelch like family member 41 ISO ClinVar Annotator: match by term: Nemaline myopathy ClinVar PMID:24268659 PMID:25558065 NCBI chr15:75,875,694...75,893,789
Ensembl chr15:75,875,859...75,893,799 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Nemaline Myopathy, Dominant | ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy ClinVar PMID:9536098 PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 More... NCBI chr15:546,187...766,131
Ensembl chr15:546,173...766,125 		JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy ClinVar PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 PMID:19805734 More... NCBI chr15:769,518...832,036
Ensembl chr15:774,191...832,010 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Nemaline Myopathy, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:59,351,445...59,365,584
Ensembl chr 6:59,347,582...59,365,284 		JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Nemaline Myopathy, Dominant ClinVar PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Nemaline myopathy ClinVar NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938 		JBrowse link
nemaline myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Cap myopathy 1 ClinVar PMID:25741868 PMID:30932294 NCBI chr 6:83,246,934...83,262,748
Ensembl chr 6:83,246,934...83,262,743 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Cap myopathy 1 | ClinVar Annotator: match by term: Congenital myopathy 4B, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy 1 | ClinVar Annotator: match by term: Nemaline myopathy 1, autosomal dominant or recessive OMIM
ClinVar		 PMID:1221488 PMID:7663526 PMID:7704029 PMID:9536098 PMID:10587521 More... NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938 		JBrowse link
nemaline myopathy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMOD3 leiomodin 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25250574 PMID:25741868 PMID:28492532 More... NCBI chr13:50,541,407...50,554,346
Ensembl chr13:50,541,414...50,554,696 		JBrowse link
nemaline myopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYPN myopalladin ISO ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18006477 PMID:22286171 PMID:23299917 More... NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
nemaline myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive ClinVar PMID:1351946 PMID:9401010 PMID:12921789 PMID:19562689 PMID:22095987 More... NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
G ARL5A ADP ribosylation factor like GTPase 5A ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:25205138 PMID:28492532 NCBI chr15:467,925...498,889
Ensembl chr15:467,995...498,883 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:25205138 PMID:28492532 NCBI chr15:402,801...455,691
Ensembl chr15:186,434...459,856 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Nemaline myopathy 2 OMIM
ClinVar		 PMID:7739042 PMID:9536098 PMID:10051637 PMID:10931867 PMID:11309420 More... NCBI chr15:546,187...766,131
Ensembl chr15:546,173...766,125 		JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 2 ClinVar PMID:7739042 PMID:9536098 PMID:10051637 PMID:10931867 PMID:11309420 More... NCBI chr15:769,518...832,036
Ensembl chr15:774,191...832,010 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive ClinVar PMID:27854218 PMID:28492532 NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778 		JBrowse link
nemaline myopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive | ClinVar Annotator: match by term: Nemaline myopathy 3, with intranuclear rods | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene OMIM
ClinVar		 PMID:1351946 PMID:4952447 PMID:9401010 PMID:10508519 PMID:12921789 More... NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
nemaline myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Cap myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene | ClinVar Annotator: match by term: TPM2-related cap myopathy OMIM
ClinVar		 PMID:11738357 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 More... NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905 		JBrowse link
nemaline myopathy 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:16835861 PMID:22246419 PMID:23006543 PMID:24411001 PMID:25741868 More... NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		JBrowse link
G PPP6R1 protein phosphatase 6 regulatory subunit 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr 6:59,427,901...59,447,692
Ensembl chr 6:59,427,572...59,450,109 		JBrowse link
G PTPRH protein tyrosine phosphatase receptor type H ISO ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr 6:59,389,545...59,416,248
Ensembl chr 6:59,389,290...59,416,233 		JBrowse link
G SYT5 synaptotagmin 5 ISO ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr 6:59,381,649...59,389,014
Ensembl chr 6:59,381,642...59,389,298 		JBrowse link
G TMEM86B transmembrane protein 86B ISO ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:28492532 NCBI chr 6:59,424,127...59,428,641 JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Nemaline Myopathy, Amish Type | ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type | ClinVar Annotator: match by term: Nemaline myopathy, caused by mutation in the troponin t1 gene OMIM
ClinVar		 PMID:5908457 PMID:9536098 PMID:10952871 PMID:12732643 PMID:14315666 More... NCBI chr 6:59,351,445...59,365,584
Ensembl chr 6:59,347,582...59,365,284 		JBrowse link
nemaline myopathy 5B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Nemaline myopathy 5B, autosomal recessive, childhood-onset OMIM
ClinVar		 PMID:25741868 PMID:31970803 PMID:35165004 PMID:35510366 NCBI chr 6:59,351,445...59,365,584
Ensembl chr 6:59,347,582...59,365,284 		JBrowse link
nemaline myopathy 5C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Nemaline myopathy 5C, autosomal dominant OMIM
ClinVar		 PMID:5908457 PMID:14315666 PMID:28492532 PMID:29178646 PMID:35510366 NCBI chr 6:59,351,445...59,365,584
Ensembl chr 6:59,347,582...59,365,284 		JBrowse link
nemaline myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKDD1A ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,095,472...107,185,484
Ensembl chr 1:107,094,123...107,135,517 		JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:108,549,297...108,763,279
Ensembl chr 1:108,730,298...108,763,401 		JBrowse link
G CA12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:108,649,277...108,710,658
Ensembl chr 1:108,649,271...108,710,651 		JBrowse link
G CIAO2A cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,951,618...107,969,306
Ensembl chr 1:107,951,646...107,969,298 		JBrowse link
G CILP cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,236,864...163,271,222
Ensembl chr 1:163,237,100...163,256,533 		JBrowse link
G CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,173,887...163,222,067
Ensembl chr 1:163,173,891...163,222,031 		JBrowse link
G CSNK1G1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,690,049...107,884,054
Ensembl chr 1:107,690,065...107,884,045 		JBrowse link
G DAPK2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,997,274...108,131,723
Ensembl chr 1:107,997,293...108,132,781 		JBrowse link
G DENND4A DENN domain containing 4A ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,661,448...163,790,264
Ensembl chr 1:163,660,244...163,790,334 		JBrowse link
G DPP8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,446,890...163,517,434
Ensembl chr 1:163,446,899...163,517,413 		JBrowse link
G FBXL22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:108,408,227...108,411,937
Ensembl chr 1:108,408,995...108,411,768 		JBrowse link
G HACD3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,525,872...163,567,649
Ensembl chr 1:163,525,965...163,588,798 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:108,206,172...108,404,149
Ensembl chr 1:108,205,580...108,403,862 		JBrowse link
G IGDCC3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,347,331...163,392,164
Ensembl chr 1:163,348,819...163,391,869 		JBrowse link
G IGDCC4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,396,224...163,435,902
Ensembl chr 1:163,396,234...163,436,063 		JBrowse link
G INTS14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,565,826...163,603,185
Ensembl chr 1:163,567,777...163,603,184 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 OMIM
ClinVar		 PMID:18414213 PMID:21104864 PMID:21109227 PMID:21681106 PMID:24525055 More... NCBI chr 1:163,113,280...163,116,889
Ensembl chr 1:163,113,324...163,116,887 		JBrowse link
G LACTB lactamase beta ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:108,909,690...108,924,509
Ensembl chr 1:108,909,693...108,924,511 		JBrowse link
G MEGF11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,894,929...164,275,439
Ensembl chr 1:163,894,312...164,275,442 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564 		JBrowse link
G OAZ2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,325,225...107,338,475
Ensembl chr 1:107,325,191...107,339,309 		JBrowse link
G PARP16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,292,778...163,320,047
Ensembl chr 1:163,292,784...163,320,021 		JBrowse link
G PCLAF PCNA clamp associated factor ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,659,509...107,669,477
Ensembl chr 1:107,659,509...107,670,954 		JBrowse link
G PDCD7 programmed cell death 7 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,157,881...163,172,528
Ensembl chr 1:163,156,925...163,170,228 		JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,218,580...107,227,171
Ensembl chr 1:107,218,657...107,227,168 		JBrowse link
G PLEKHO2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,186,284...107,209,226
Ensembl chr 1:107,186,288...107,218,532 		JBrowse link
G PPIB peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,886,663...107,893,155
Ensembl chr 1:107,886,658...107,893,253 		JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,858,254...163,887,741
Ensembl chr 1:163,858,123...163,891,527 		JBrowse link
G RAB8B RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:108,772,851...108,840,222
Ensembl chr 1:108,772,851...108,840,227 		JBrowse link
G RASL12 RAS like family 12 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr 1:163,089,440...163,104,027
Ensembl chr 1:163,089,444...163,103,523 		JBrowse link
G RBPMS2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,259,302...107,296,527
Ensembl chr 1:107,259,351...107,296,524 		JBrowse link
G RPS27L ribosomal protein S27 like ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:108,881,330...108,886,334
Ensembl chr 1:108,881,552...108,890,283 		JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,603,223...163,662,071
Ensembl chr 1:163,604,594...163,658,318 		JBrowse link
G SLC51B SLC51 subunit beta ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr 1:163,081,145...163,089,491
Ensembl chr 1:163,081,180...163,089,488 		JBrowse link
G SNX1 sorting nexin 1 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,903,954...107,949,920
Ensembl chr 1:107,903,741...107,949,923 		JBrowse link
G SNX22 sorting nexin 22 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,891,698...107,897,561
Ensembl chr 1:107,891,699...107,897,529 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 PMID:28492532 NCBI chr 1:107,011,731...107,036,353
Ensembl chr 1:107,011,547...107,036,347 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,588,778...107,654,679
Ensembl chr 1:107,588,492...107,654,639 		JBrowse link
G UBAP1L ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:163,133,230...163,153,941
Ensembl chr 1:163,133,053...163,153,303 		JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:108,414,358...108,515,611
Ensembl chr 1:108,415,703...108,515,447 		JBrowse link
G ZNF609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Nemaline myopathy 6 ClinVar PMID:21681106 PMID:24525055 NCBI chr 1:107,338,608...107,583,347
Ensembl chr 1:107,340,542...107,583,273 		JBrowse link
nemaline myopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Nemaline myopathy 7 OMIM
ClinVar		 PMID:9536098 PMID:17160903 PMID:17576681 PMID:18414213 PMID:22560515 More... NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512 		JBrowse link
nemaline myopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL40 kelch like family member 40 ISO ClinVar Annotator: match by term: Nemaline myopathy 8 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746549 PMID:24033266 More... NCBI chr13:26,202,607...26,211,528
Ensembl chr13:26,202,677...26,211,522 		JBrowse link
nemaline myopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL41 kelch like family member 41 ISO ClinVar Annotator: match by term: Nemaline myopathy 9 OMIM
ClinVar		 PMID:16199547 PMID:24268659 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr15:75,875,694...75,893,789
Ensembl chr15:75,875,859...75,893,799 		JBrowse link
neurogenic scapuloperoneal syndrome Kaeser type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser OMIM
ClinVar		 PMID:5828910 PMID:9697706 PMID:10717012 PMID:10905661 PMID:14326018 More... NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35460704 NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182 		JBrowse link
nodular nonsuppurative panniculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3259592 PMID:6982619 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645 		JBrowse link
oculopharyngeal muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP12 LDL receptor related protein 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31332380 NCBI chr 4:32,701,830...32,783,391
Ensembl chr 4:32,701,835...32,783,390 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 ISO ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy OMIM
ClinVar		 PMID:16648376 PMID:25741868 NCBI chr 7:75,752,571...75,756,522
Ensembl chr 7:75,751,760...75,756,700 		JBrowse link
Oculopharyngeal Muscular Dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy 2 OMIM
ClinVar		 PMID:28492532 PMID:35484142 NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,856 		JBrowse link
oculopharyngodistal myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP12 LDL receptor related protein 12 ISO OMIM NCBI chr 4:32,701,830...32,783,391
Ensembl chr 4:32,701,835...32,783,390 		JBrowse link
oculopharyngodistal myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GIPC1 GIPC PDZ domain containing family member 1 ISO OMIM NCBI chr 2:64,780,447...64,794,922
Ensembl chr 2:64,780,442...64,794,919 		JBrowse link
oculopharyngodistal myopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RILPL1 Rab interacting lysosomal protein like 1 ISO OMIM NCBI chr14:29,424,120...29,470,679
Ensembl chr14:29,424,115...29,476,220 		JBrowse link
otulipenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTULIN OTU deubiquitinase with linear linkage specificity susceptibility ISO ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA ClinVar
OMIM		 PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 More... NCBI chr16:4,063,037...4,097,112
Ensembl chr16:4,063,071...4,093,198 		JBrowse link
paramyotonia congenita of Von Eulenburg term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Paramyotonia congenita of Von Eulenburg | ClinVar Annotator: match by term: Von Eulenburg paramyotonia congenita OMIM
ClinVar		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659948 PMID:1918277 More... NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		JBrowse link
polymyalgia rheumatica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRH corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,484,053...68,486,121 		JBrowse link
G CRP C-reactive protein, pentraxin-related treatment ISO RGD PMID:2859021 RGD:9495925 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000 		JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:plasma, endothelial microparticle (human) RGD PMID:22211720 RGD:6771319 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293 		JBrowse link
polymyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470 		JBrowse link
G ELN elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL4 interleukin 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MMP9 matrix metallopeptidase 9 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:15856462 RGD:2324870 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,149,510 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNP:intron: (rs7582694) (human) RGD PMID:24632671 RGD:8661720 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:serum RGD PMID:11055823 RGD:8661747 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity ISO protein:increased expression:serum RGD PMID:11055823 RGD:8661747 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147 		JBrowse link
Potassium Aggravated Myotonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Potassium-aggravated myotonia ClinVar PMID:25741868 NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Myotonia congenita, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia fluctuans | ClinVar Annotator: match by term: Potassium-aggravated myotonia OMIM
ClinVar		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659948 PMID:1918277 More... NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582 		JBrowse link
Primrose Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZBTB20 zinc finger and BTB domain containing 20 ISO ClinVar Annotator: match by term: Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes | ClinVar Annotator: match by term: Primrose syndrome OMIM
ClinVar		 PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28327206 More... NCBI chr13:144,855,821...145,668,320
Ensembl chr13:145,591,894...145,644,880 		JBrowse link
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 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: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12707443 PMID:12872260 PMID:18575922 PMID:18973250 PMID:19084593 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		JBrowse link
Recurrent Myoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Myoglobinuria, recurrent ClinVar PMID:10980727 PMID:32906214 NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
reducing body myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, early-onset, severe OMIM
ClinVar		 PMID:7722535 PMID:18274675 PMID:19171836 PMID:19181672 PMID:19716112 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
reducing body myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset OMIM
ClinVar		 PMID:16919903 PMID:18274675 PMID:18952429 PMID:19171836 PMID:19716112 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
rigid spine muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine ClinVar PMID:25182138 PMID:27854218 NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO ClinVar Annotator: match by term: Rigid spine syndrome ClinVar PMID:25741868 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,218...27,957,193 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,702...83,054,377 		JBrowse link
G MAN1C1 mannosidase alpha class 1C member 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr 6:83,089,942...83,228,648
Ensembl chr 6:83,089,072...83,228,008 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21674524 PMID:21911697 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED | ClinVar Annotator: match by term: Rigid spine muscular dystrophy 1 OMIM
ClinVar		 PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 More... NCBI chr 6:83,246,934...83,262,748
Ensembl chr 6:83,246,934...83,262,743 		JBrowse link
rippling muscle disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive OMIM
ClinVar		 PMID:1146501 PMID:2705900 PMID:09536092 PMID:9536098 PMID:09537420 More... NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,795...65,131,273 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive ClinVar PMID:1146501 PMID:2705900 PMID:09536092 PMID:09537420 PMID:10227634 More... NCBI chr13:65,134,055...65,155,543
Ensembl chr13:65,134,057...65,153,487 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Rippling muscle disease 2 ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr13:65,041,193...65,066,367
Ensembl chr13:65,039,719...65,066,369 		JBrowse link
Sarcopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 severity ISO RNA:increased expression:plantaris muscle: RGD PMID:17029665 RGD:2325745 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G AK1 adenylate kinase 1 ISO protein:increased expression:gastrocnemius muscle (rat) RGD PMID:17611631 RGD:5147990 NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,033...268,365,598 		JBrowse link
G AR androgen receptor treatment ISO RGD PMID:17049844 PMID:24177288 RGD:10043306 RGD:10043311 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO protein:increased localization:gastrocnemius (rat) RGD PMID:20850499 RGD:13703063 NCBI chr 1:95,738,789...95,750,835
Ensembl chr 1:95,733,090...95,750,841 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:decreased expression:plantaris RGD PMID:17029665 RGD:2325745 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA:decreased expression:plantaris RGD PMID:17029665 RGD:2325745 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G CAV1 caveolin 1 severity ISO DNA:SNP:intron:14713G>A (rs3807987) (human) RGD PMID:24815842 RGD:10045568 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:20022929 RGD:10043356 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO protein:increased expression:thigh muscle (mouse) RGD PMID:21982926 RGD:10401269 NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,207...43,085,836 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO mRNA:increased expression:vastus lateralis muscle (human) RGD PMID:15687482 RGD:10401226 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO RGD PMID:15187001 RGD:10395315 NCBI chr13:122,060,408...122,070,327
Ensembl chr13:122,060,473...122,070,304 		JBrowse link
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha ISO RGD PMID:15187001 RGD:10395315 NCBI chr 7:91,085,025...91,109,835
Ensembl chr 7:91,085,335...91,109,827 		JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,937,453...8,946,955 		JBrowse link
G FOXO4 forkhead box O4 ISO RGD PMID:16870627 RGD:10402356 NCBI chr  X:57,132,549...57,140,377
Ensembl chr  X:57,132,548...57,140,356 		JBrowse link
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000 		JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:12919235 RGD:10045859 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IL6 interleukin 6 ISO RGD PMID:12919235 RGD:10045859 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G MFN2 mitofusin 2 ISO protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO protein:increased expression:soleus RGD PMID:15665035 RGD:10413861 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:altered expression:gastrocnemius muscle (rat) RGD PMID:16870628 RGD:10053649 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G SUPV3L1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr14:72,245,526...72,272,948
Ensembl chr14:72,245,600...72,273,688 		JBrowse link
Sarcoplasmic Body Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MB myoglobin ISO ClinVar Annotator: match by term: Myopathy, sarcoplasmic body ClinVar
OMIM		 PMID:6251174 PMID:25741868 PMID:30918256 PMID:34679218 PMID:35527200
Scapulohumeral Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32528171 NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335 		JBrowse link
Scapulohumeroperoneal Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, scapulohumeroperoneal OMIM
ClinVar		 PMID:1351946 PMID:4952447 PMID:9401010 PMID:10508519 PMID:12921789 More... NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
scapuloperoneal myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 ISO OMIM:181430 | OMIM:300695 MouseDO NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Scapuloperoneal myopathy ClinVar NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: MYH7-related late-onset scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: SCAPULOPERONEAL MUSCULAR DYSTROPHY | ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE | ClinVar Annotator: match by term: Scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy | ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY OMIM
ClinVar		 PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821 		JBrowse link
Subcutaneous Panniculitis-like T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAVCR2 hepatitis A virus cellular receptor 2 ISO ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma OMIM
ClinVar		 PMID:25741868 PMID:30374066 PMID:30792187 NCBI chr16:66,138,157...66,160,568
Ensembl chr16:66,139,535...66,160,538 		JBrowse link
Temporomandibular Joint Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR3A Fc fragment of IgG receptor IIIa ISO RGD PMID:20589683 RGD:5508377 NCBI chr 4:88,948,357...88,956,513 JBrowse link
tendinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN2 cellular communication network factor 2 ISO protein:increased expression:flexor digitorum profundus, flexor digitorum superficialis, fibroblast (rat) RGD PMID:19743505 RGD:2314473 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691 		JBrowse link
G FMOD fibromodulin ISO RGD PMID:19955224 RGD:2315073 NCBI chr 9:64,062,995...64,073,853
Ensembl chr 9:64,063,001...64,073,858 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO protein:increased expression:patellar tendon: RGD PMID:23776285 RGD:12793064 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:22926534 RGD:8549751 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G POSTN periostin ISO protein:increased expression:peritendon: RGD PMID:19743505 RGD:2314473 NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978 		JBrowse link
Thomsen disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar Annotator: match by term: Thomsen's disease OMIM
ClinVar		 PMID:758138 PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 More... NCBI chr18:6,902,540...6,941,530
Ensembl chr18:6,902,542...6,940,449 		JBrowse link
G FAM131B family with sequence similarity 131 member B ISO ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form ClinVar PMID:16321142 PMID:18337100 PMID:23113340 PMID:23739125 PMID:25741868 More... NCBI chr18:6,893,323...6,903,022
Ensembl chr18:6,893,316...6,903,012 		JBrowse link
tibial muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy OMIM
ClinVar		 PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11717165 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
Tubular Aggregate Myopathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Tubular Aggregate Myopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575 		JBrowse link
tubular aggregate myopathy 1 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: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT ClinVar PMID:2734399 PMID:16227997 PMID:17008356 PMID:17825552 PMID:18414213 More... NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT ClinVar PMID:11053684 PMID:25741868 PMID:28492532 NCBI chr 5:100,762,918...100,764,771
Ensembl chr 5:100,762,917...100,764,773 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 ClinVar PMID:28492532 NCBI chr14:31,012,212...31,028,008
Ensembl chr14:31,011,644...31,027,993 		JBrowse link
G STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 OMIM
ClinVar		 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:19420366 More... NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575 		JBrowse link
tubular aggregate myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ORAI1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Myopathy, tubular aggregate, 2 | ClinVar Annotator: match by term: ORAI1-related condition OMIM
ClinVar		 PMID:15452313 PMID:24591628 PMID:25227914 PMID:25741868 PMID:27882542 More... NCBI chr14:31,012,212...31,028,008
Ensembl chr14:31,011,644...31,027,993 		JBrowse link
Ullrich congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,612...90,875,118 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO OMIM:254090 MouseDO NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G LOC100623720 collagen alpha-1(VI) chain ISO ClinVar Annotator: match by term: COL6A1-related Disorder ClinVar NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		JBrowse link
Ullrich Congenital Muscular Dystrophy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar PMID:16199547 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,612...90,875,118 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar PMID:15689448 PMID:16199547 PMID:17886299 PMID:18366090 PMID:18414213 More...
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:11992252 PMID:15563506 More... NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532
G LOC100623720 collagen alpha-1(VI) chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 OMIM
ClinVar		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9724608 More... NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		JBrowse link
Ullrich Congenital Muscular Dystrophy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 More...
Ullrich Congenital Muscular Dystrophy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1C OMIM
ClinVar		 PMID:9536098 PMID:11992252 PMID:15563506 PMID:16199547 PMID:17576681 More... NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
Ullrich Congenital Muscular Dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: COL12A1- Related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8601036 PMID:9536098 PMID:10612821 More... NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,612...90,875,118 		JBrowse link
Vacuolar Neuromyopathy 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, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES ClinVar PMID:8533766 PMID:9536098 PMID:9973293 PMID:10489050 PMID:17576681 More... NCBI chr18:1,444,737...1,499,904
Ensembl chr18:1,444,739...1,499,887 		JBrowse link
G PLIN4 perilipin 4 ISO OMIM NCBI chr 2:74,318,624...74,331,920
Ensembl chr 2:74,318,628...74,331,909 		JBrowse link
Walker-Warburg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817 		JBrowse link
G CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,506,979...52,516,704
Ensembl chr 6:52,506,674...52,516,703 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO OMIM:236670 | OMIM:253280 MouseDO NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,422,317...85,710,750 		JBrowse link
G DACT3 dishevelled binding antagonist of beta catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,543,737...52,554,258
Ensembl chr 6:52,543,580...52,553,991 		JBrowse link
G DAG1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome		 ClinVar PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy		 ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
G FSD1L fibronectin type III and SPRY domain containing 1 like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 1:246,768,098...246,847,084
Ensembl chr 1:246,866,709...246,916,643
Ensembl chr 1:246,866,709...246,916,643 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155 		JBrowse link
G GNG8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,534,952...52,541,115
Ensembl chr 6:52,534,662...52,536,414 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532
G LOC102159820 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 5:3,114,410...3,203,378
Ensembl chr 5:2,980,351...3,203,381 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:26060116 RGD:11532770 NCBI chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133 		JBrowse link
G POMK protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:11,957,615...11,978,919 JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome		 ClinVar PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
G PRKD2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,559,066...52,599,174
Ensembl chr 6:52,559,393...52,599,132 		JBrowse link
G PTGIR prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,522,639...52,527,338
Ensembl chr 6:52,522,638...52,527,345 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:23217329 PMID:24033266 PMID:25741868 PMID:27733679 PMID:28492532 NCBI chr 5:28,247,409...28,276,276
Ensembl chr 5:28,247,412...28,276,273 		JBrowse link
G SLC44A1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:246,548,461...246,760,527
Ensembl chr 1:246,548,497...246,760,514 		JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,601,934...52,627,910
Ensembl chr 6:52,601,938...52,627,902 		JBrowse link
G TAL2 TAL bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 1:246,932,975...246,944,722
Ensembl chr 1:246,933,241...246,942,163 		JBrowse link
G TMEM38B transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 1:246,973,447...247,024,019
Ensembl chr 1:246,973,436...247,027,527 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
Welander Distal Myopathy, Swedish Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIA1 TIA1 cytotoxic granule associated RNA binding protein ISO ClinVar Annotator: match by term: Welander distal myopathy OMIM
ClinVar		 PMID:9536098 PMID:10482271 PMID:16199547 PMID:17576681 PMID:23348830 More... NCBI chr 3:72,240,535...72,281,811
Ensembl chr 3:72,240,600...72,277,296 		JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZC3H12B zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:51,231,526...51,749,627
Ensembl chr  X:51,502,732...51,749,625 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar		 PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980 		JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMD emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures		 OMIM
ClinVar		 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:262236 PMID:2733290 PMID:9536098 PMID:11102973 PMID:11503164 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G SUN1 Sad1 and UNC84 domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:485,980...532,974
Ensembl chr 3:486,021...530,869 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:13,715,644...14,201,711 JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMD emerin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy OMIM
ClinVar		 PMID:2663542 PMID:7722535 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chr15:84,226,953...84,501,320 JBrowse link
X-linked myopathy with excessive autophagy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD99L2 CD99 molecule like 2 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,456,668...122,535,989
Ensembl chr  X:122,456,676...122,535,870 		JBrowse link
G GPR50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,708,551...122,713,163
Ensembl chr  X:122,708,427...122,714,164 		JBrowse link
G HMGB3 high mobility group box 3 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,591,413...122,599,496
Ensembl chr  X:122,592,936...122,599,493 		JBrowse link
G MAMLD1 mastermind like domain containing 1 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,120,275...122,233,692
Ensembl chr  X:122,120,300...122,234,472 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299 		JBrowse link
G MTMR1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:122,394,768...122,455,266
Ensembl chr  X:122,394,921...122,453,905 		JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy OMIM
ClinVar		 PMID:9305655 PMID:9536098 PMID:10063835 PMID:10449925 PMID:15725586 More... NCBI chr  X:122,872,141...122,882,976 JBrowse link
X-Linked Scapuloperoneal Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy OMIM
ClinVar		 PMID:18179888 PMID:18179901 PMID:19181672 PMID:19716112 PMID:21629301 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      musculoskeletal system disease 7669
        muscular disease 2091
          muscle tissue disease 1265
            myopathy 980
              Alcohol Myopathy 1
              Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities 1
              King Denborough syndrome 1
              MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 1
              Multiple Epiphyseal Dysplasia with Myopathy 0
              Myoectodermal Gonadal Dysgenesis Syndrome 2
              Myopathy due to Malate-Aspartate Shuttle Defect 0
              Myopathy with Giant Abnormal Mitochondria 0
              Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1
              Myopathy, Cataract, Hypogonadism Syndrome 0
              Myopathy, Epilepsy, and Progressive Cerebral Atrophy 1
              Myostitis 0
              Neutral Lipid Storage Disease with Myopathy 1
              Oculopharyngeal Myopathy with Leukoencephalopathy 1 0
              Reducing Body Myopathies + 1
              Sarcoplasmic Body Myopathy 1
              Secretory Diarrhea, Myopathy, and Deafness 0
              Tubular Aggregate Myopathies + 4
              X-linked myopathy with excessive autophagy 7
              congenital myopathy + 237
              mitochondrial myopathy + 121
              muscular atrophy + 84
              muscular dystrophy + 588
              myofascial pain syndrome + 3
              myofibrillar myopathy + 61
              myoglobinuria + 6
              myopathy of extraocular muscle + 4
              myopathy with extrapyramidal signs 1
              myositis + 79
              neurogenic scapuloperoneal syndrome Kaeser type 1
              polymyalgia rheumatica 6
              rhabdomyolysis-myalgia syndrome 0
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        peripheral nervous system disease 3991
          neuropathy 3800
            neuromuscular disease 2980
              muscular disease 2091
                muscle tissue disease 1265
                  myopathy 980
                    Alcohol Myopathy 1
                    Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities 1
                    King Denborough syndrome 1
                    MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 1
                    Multiple Epiphyseal Dysplasia with Myopathy 0
                    Myoectodermal Gonadal Dysgenesis Syndrome 2
                    Myopathy due to Malate-Aspartate Shuttle Defect 0
                    Myopathy with Giant Abnormal Mitochondria 0
                    Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1
                    Myopathy, Cataract, Hypogonadism Syndrome 0
                    Myopathy, Epilepsy, and Progressive Cerebral Atrophy 1
                    Myostitis 0
                    Neutral Lipid Storage Disease with Myopathy 1
                    Oculopharyngeal Myopathy with Leukoencephalopathy 1 0
                    Reducing Body Myopathies + 1
                    Sarcoplasmic Body Myopathy 1
                    Secretory Diarrhea, Myopathy, and Deafness 0
                    Tubular Aggregate Myopathies + 4
                    X-linked myopathy with excessive autophagy 7
                    congenital myopathy + 237
                    mitochondrial myopathy + 121
                    muscular atrophy + 84
                    muscular dystrophy + 588
                    myofascial pain syndrome + 3
                    myofibrillar myopathy + 61
                    myoglobinuria + 6
                    myopathy of extraocular muscle + 4
                    myopathy with extrapyramidal signs 1
                    myositis + 79
                    neurogenic scapuloperoneal syndrome Kaeser type 1
                    polymyalgia rheumatica 6
                    rhabdomyolysis-myalgia syndrome 0
paths to the root