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ONTOLOGY REPORT - ANNOTATIONS


Term:muscular disease
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Accession:DOID:0080000 term browser browse the term
Definition:Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
Synonyms:exact_synonym: Muscle Disorder;   Muscle Disorders;   muscular diseases
 narrow_synonym: SKELETAL MUSCLE DISEASE
 primary_id: MESH:D009135
For additional species annotation, visit the Alliance of Genome Resources.


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muscular disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11554173
G Ampd1 adenosine monophosphate deaminase 1 JBrowse link 2 205,568,934 205,589,961 RGD:11554173
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:11554173
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:1626306
G Cpt2 carnitine palmitoyltransferase 2 JBrowse link 5 127,505,646 127,523,016 RGD:734814
RGD:11554173
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:11554173
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G Ctsb cathepsin B JBrowse link 15 46,316,741 46,337,613 RGD:11554173
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 JBrowse link 3 110,159,624 110,245,382 RGD:11554173
G Fabp3 fatty acid binding protein 3 JBrowse link 5 148,528,854 148,535,597 RGD:11554173
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 JBrowse link 4 118,852,046 118,901,583 RGD:11554173
G Hint1 histidine triad nucleotide binding protein 1 JBrowse link 10 40,208,236 40,211,981 RGD:11554173
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase JBrowse link 2 27,480,224 27,500,654 RGD:5508448
RGD:11554173
G Htr3b 5-hydroxytryptamine receptor 3B JBrowse link 8 53,247,881 53,278,170 RGD:11554173
G Htr7 5-hydroxytryptamine receptor 7 JBrowse link 1 254,547,964 254,671,811 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Itga7 integrin subunit alpha 7 JBrowse link 7 3,355,079 3,383,886 RGD:1600024
G Lpl lipoprotein lipase JBrowse link 16 22,537,687 22,561,487 RGD:1302535
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:11554173
G Megf10 multiple EGF-like domains 10 JBrowse link 18 52,215,652 52,366,212 RGD:11554173
G Micu1 mitochondrial calcium uptake 1 JBrowse link 20 29,284,833 29,433,617 RGD:11554173
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:11554173
G Prkcd protein kinase C, delta JBrowse link 16 6,655,131 6,675,746 RGD:1642535
G Pygm glycogen phosphorylase, muscle associated JBrowse link 1 221,756,325 221,771,142 RGD:11554173
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:11554173
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11554173
G Sox6 SRY-box transcription factor 6 JBrowse link 1 185,631,702 186,186,192 RGD:1580857
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:11554173
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:11554173
G Tubg1 tubulin, gamma 1 JBrowse link 10 89,030,865 89,037,455 RGD:1626306
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:13209133
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:8554872
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:8554872
Actin-Accumulation Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:8554872
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lpin1 lipin 1 JBrowse link 6 41,796,214 41,905,149 RGD:7240710
RGD:8554872
Aggressive Fibromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:11554173
G Ccn2 cellular communication network factor 2 JBrowse link 1 21,851,657 21,854,773 RGD:2314525
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208596
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Larp7 La ribonucleoprotein 7, transcriptional regulator JBrowse link 2 231,866,888 231,882,002 RGD:7240710
RGD:8554872
Alcohol Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 JBrowse link 1 197,855,912 197,875,038 RGD:1581765
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:7240710
RGD:8554872
Alpers-Huttenlocher syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148026
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694184
RGD:8554872
RGD:15039298
RGD:11554173
RGD:7240710
RGD:8694317
RGD:8694284
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:8554872
alveolar rhabdomyosarcoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:8554872
G Foxo1 forkhead box O1 JBrowse link 2 141,451,234 141,527,016 RGD:7240710
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:1580944
RGD:8554872
RGD:7240710
G Pax7 paired box 7 JBrowse link 5 158,211,001 158,313,510 RGD:7240710
RGD:8554872
G Tp73 tumor protein p73 JBrowse link 5 171,355,876 171,415,354 RGD:11554173
G Wwtr1 WW domain containing transcription regulator 1 JBrowse link 2 147,577,149 147,693,033 RGD:11554173
alveolar soft part sarcoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing JBrowse link 10 109,851,407 109,889,339 RGD:7240710
Amyopathic Dermatomyositis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147790
RGD:8547569
RGD:5147796
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Matr3 matrin 3 JBrowse link 18 28,351,691 28,390,764 RGD:7240710
RGD:8554872
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creb1 cAMP responsive element binding protein 1 JBrowse link 9 71,229,753 71,298,994 RGD:7240710
Antisynthetase Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:8554872
ARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:11554173
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:8554872
RGD:11554173
Arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrg6 adhesion G protein-coupled receptor G6 JBrowse link 1 8,593,342 8,751,540 RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:11554173
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:1600548
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:13209012
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:1599481
RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:1599490
RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:1599749
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
Arthrogryposis Multiplex Congenita 3, Myogenic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:7240710
RGD:8554872
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
RGD:7240710
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35a3 solute carrier family 35 member A3 JBrowse link 2 219,705,618 219,741,886 RGD:7240710
RGD:8554872
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:7240710
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:7240710
RGD:8554872
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:8554872
RGD:7240710
Autosomal Dominant Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:734571
RGD:8554872
RGD:7240710
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710
RGD:2306094
RGD:12791273
RGD:11062274
RGD:12791020
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:8554872
RGD:7240710
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syne2 spectrin repeat containing nuclear envelope protein 2 JBrowse link 6 98,884,269 99,153,551 RGD:8554872
RGD:7240710
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:7240710
RGD:8554872
autosomal dominant hyaline body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
RGD:12792959
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:7240710
RGD:8554872
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnpo3 transportin 3 JBrowse link 4 56,820,023 56,897,310 RGD:7240710
RGD:8554872
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like JBrowse link 14 11,199,114 11,204,670 RGD:7240710
RGD:8554872
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:7240710
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:7240710
RGD:8554872
autosomal recessive centronuclear myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:8554872
RGD:11554173
G Speg striated muscle enriched protein kinase JBrowse link 9 82,571,333 82,628,684 RGD:11554173
Autosomal Recessive Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710
autosomal recessive hyaline body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:8554872
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:11532762
RGD:8554872
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
RGD:7240710
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:8554872
RGD:7240710
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Popdc3 popeye domain containing 3 JBrowse link 20 50,394,617 50,422,551 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:734687
RGD:8554872
RGD:7240710
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:7240710
RGD:8554872
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13210781
autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:7240710
RGD:8554872
RGD:13605619
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11073211
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:7240710
RGD:8554872
RGD:13605612
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:7240710
RGD:8554872
RGD:13605613
RGD:13605614
autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:7240710
RGD:8554872
RGD:11554173
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Trim32 tripartite motif-containing 32 JBrowse link 5 81,431,554 81,449,023 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:1598944
RGD:8554872
RGD:11063285
RGD:11667967
RGD:11667966
RGD:11667965
RGD:11667964
RGD:11667963
RGD:11667961
RGD:7240710
G Strn4 striatin 4 JBrowse link 1 78,739,930 78,765,696 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:8554872
G Aif1l allograft inflammatory factor 1-like JBrowse link 3 9,237,944 9,262,628 RGD:8554872
G Exosc2 exosome component 2 JBrowse link 3 10,151,734 10,161,997 RGD:8554872
G Fam78a family with sequence similarity 78, member A JBrowse link 3 11,086,016 11,105,151 RGD:8554872
G Fibcd1 fibrinogen C domain containing 1 JBrowse link 3 9,365,866 9,399,578 RGD:8554872
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Lamc3 laminin subunit gamma 3 JBrowse link 3 9,265,407 9,327,107 RGD:8554872
G Nup214 nucleoporin 214 JBrowse link 3
3
9,227,869
10,993,584
9,236,878
11,070,638
RGD:8554872
G Plpp7 phospholipid phosphatase 7 (inactive) JBrowse link 3 11,114,551 11,130,427 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:7240710
RGD:8554872
G Prdm12 PR/SET domain 12 JBrowse link 3 10,181,104 10,199,185 RGD:8554872
G Prrc2b proline-rich coiled-coil 2B JBrowse link 3 11,165,687 11,252,401 RGD:8554872
G Qrfp pyroglutamylated RFamide peptide JBrowse link 3 9,402,397 9,404,354 RGD:8554872
G Uck1 uridine-cytidine kinase 1 JBrowse link 3 11,271,874 11,277,757 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570561
RGD:11570558
RGD:11066746
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:11576328
autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:7240710
RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amt aminomethyltransferase JBrowse link 8 117,068,388 117,078,633 RGD:8554872
G Ccdc71 coiled-coil domain containing 71 JBrowse link 8 117,236,933 117,251,573 RGD:8554872
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:7240710
RGD:8554872
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:8554872
G Iho1 interactor of HORMAD1 1 JBrowse link 8 117,182,484 117,215,390 RGD:8554872
G Klhdc8b kelch domain containing 8B JBrowse link 8 117,232,047 117,236,792 RGD:8554872
G Lamb2 laminin subunit beta 2 JBrowse link 8 117,268,335 117,280,517 RGD:8554872
G LOC498675 hypothetical LOC498675 JBrowse link 8 117,170,620 117,175,235 RGD:8554872
G LOC680045 hypothetical protein LOC680045 JBrowse link 8 117,214,999 117,231,024 RGD:8554872
G Nicn1 nicolin 1 JBrowse link 8 117,062,989 117,068,134 RGD:8554872
G Rhoa ras homolog family member A JBrowse link 8 117,082,440 117,116,244 RGD:8554872
G Tcta T-cell leukemia translocation altered JBrowse link 8 117,079,094 117,082,338 RGD:8554872
G Usp4 ubiquitin specific peptidase 4 JBrowse link 8 117,126,692 117,171,012 RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trappc11 trafficking protein particle complex 11 JBrowse link 16 47,874,993 47,920,822 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr17 G protein-coupled receptor 17 JBrowse link 18 24,733,306 24,739,194 RGD:8554872
G Lims2 LIM zinc finger domain containing 2 JBrowse link 18 24,707,951 24,746,159 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bves blood vessel epicardial substance JBrowse link 20 50,439,885 50,474,678 RGD:8554872
RGD:7240710
autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1aip1 torsin 1A interacting protein 1 JBrowse link 13 73,670,649 73,704,668 RGD:8554872
RGD:7240710
G Tor1aip2 torsin 1A interacting protein 2 JBrowse link 13 73,704,088 73,735,339 RGD:8554872
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh1 ribonuclease H1 JBrowse link 6 47,916,188 47,925,582 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
RGD:7240710
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Axial Myopathy, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
Becker muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
RGD:7240710
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
Benign Pseudohypertrophic Muscular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
Beta-sarcoglycanopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
Bethlem myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col12a1 collagen type XII alpha 1 chain JBrowse link 8 87,042,820 87,150,701 RGD:11554173
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
RGD:11554173
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
RGD:11554173
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
RGD:11554173
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
Bethlem Myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ackr3 atypical chemokine receptor 3 JBrowse link 9 97,355,881 97,367,455 RGD:8554872
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:1600934
RGD:8554872
RGD:7240710
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:1600934
RGD:8554872
RGD:7240710
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:7240710
RGD:8554872
G Cops8 COP9 signalosome subunit 8 JBrowse link 9 97,772,224 97,782,055 RGD:8554872
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
Bethlem Myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col12a1 collagen type XII alpha 1 chain JBrowse link 8 87,042,820 87,150,701 RGD:8554872
RGD:7240710
Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 JBrowse link 12 22,716,421 22,726,982 RGD:7240710
RGD:8554872
bone giant cell tumor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H3f3a H3 histone family member 3A JBrowse link 13 99,091,246 99,102,828 RGD:11554173
Brody myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 JBrowse link 1 197,855,912 197,875,038 RGD:734618
RGD:8554872
RGD:7240710
G Atxn2l ataxin 2-like JBrowse link 1 197,908,087 197,920,400 RGD:8554872
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 JBrowse link 1 197,839,583 197,855,953 RGD:8554872
G Sh2b1 SH2B adaptor protein 1 JBrowse link 1 197,878,839 197,888,223 RGD:8554872
G Tufm Tu translation elongation factor, mitochondrial JBrowse link 1 197,903,582 197,907,189 RGD:8554872
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:13592920
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:13592920
Bruck Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
RGD:7240710
Bruck Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:7240710
RGD:8554872
Camptocormia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link 3 5,608,243 5,617,689 RGD:8554872
RGD:7240710
Carney Triad term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trdn triadin JBrowse link 1 25,403,390 25,787,664 RGD:7240710
RGD:8554872
central core myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:7240710
RGD:8554872
RGD:11554173
centronuclear myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
RGD:13592920
G Klhl31 kelch-like family member 31 JBrowse link 8 84,945,444 84,968,811 RGD:13592920
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:8554872
RGD:13592920
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:13592920
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
centronuclear myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:8554872
G Mtmr14 myotubularin related protein 14 JBrowse link 4 145,195,046 145,238,097 RGD:7240710
RGD:8554872
G Myf6 myogenic factor 6 JBrowse link 7 49,739,643 49,741,490 RGD:8554872
G Myod1 myogenic differentiation 1 JBrowse link 1 102,396,538 102,399,248 RGD:8554872
centronuclear myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:7240710
centronuclear myopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc78 coiled-coil domain containing 78 JBrowse link 10 15,155,839 15,160,039 RGD:7240710
RGD:8554872
centronuclear myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Speg striated muscle enriched protein kinase JBrowse link 9 82,571,333 82,628,684 RGD:7240710
RGD:8554872
centronuclear myopathy 6 with fiber-type disproportion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map3k20 mitogen-activated protein kinase kinase kinase 20 JBrowse link 3 58,965,025 59,120,507 RGD:8554872
RGD:7240710
centronuclear myopathy X-linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd99l2 CD99 molecule-like 2 JBrowse link 15 5,265,257 5,311,232 RGD:8554872
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Gpr50 G protein-coupled receptor 50 JBrowse link 17 36,771,578 36,776,225 RGD:8554872
G Hmgb3 high mobility group box 3 JBrowse link 17 36,690,190 36,694,329 RGD:8554872
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:7240710
RGD:8554872
G Mtmr1 myotubularin related protein 1 JBrowse link 18 291,785 325,415 RGD:8554872
G Vma21 vacuolar ATPase assembly factor VMA21 JBrowse link 16 70,142,561 70,151,833 RGD:8554872
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
G Polr1g RNA polymerase I subunit G JBrowse link 1 80,267,725 80,271,001 RGD:8554872
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
RGD:11554173
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:11554173
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:7240710
RGD:8554872
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 RGD:8554872
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:8554872
RGD:7240710
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankfy1 ankyrin repeat and FYVE domain containing 1 JBrowse link 10 59,259,955 59,331,669 RGD:13592920
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:7240710
RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:8554872
RGD:7240710
chondroblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H3f3b H3 histone family member 3B JBrowse link 10 104,573,666 104,575,890 RGD:11554173
chronic fatigue syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl24 C-C motif chemokine ligand 24 JBrowse link 12 24,131,529 24,152,626 RGD:11538286
G Cd28 Cd28 molecule JBrowse link 9 67,546,408 67,573,858 RGD:5131614
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:11538286
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:11538286
G Disc1 DISC1 scaffold protein JBrowse link 19 57,818,838 58,069,992 RGD:5509831
G Il16 interleukin 16 JBrowse link 1 145,781,923 145,881,538 RGD:11538286
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482801
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:6892702
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147827
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:28867246
G Slc6a4 solute carrier family 6 member 4 JBrowse link 10 63,153,656 63,188,377 RGD:36947383
RGD:11098915
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11538286
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:737726
RGD:11554173
RGD:8694204
RGD:8694183
RGD:8694170
RGD:8694163
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580622
RGD:8554872
RGD:1580620
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:1600544
RGD:8554872
coenzyme Q10 deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Ciapin1 cytokine induced apoptosis inhibitor 1 JBrowse link 19 10,596,923 10,612,414 RGD:8554872
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Coq9 coenzyme Q9 JBrowse link 19 10,583,855 10,596,848 RGD:13592920
RGD:8554872
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:8554872
G Pdss2 decaprenyl diphosphate synthase subunit 2 JBrowse link 20 47,966,513 48,192,747 RGD:13592920
RGD:8554872
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Avil advillin JBrowse link 7 70,292,565 70,310,588 RGD:8554872
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mphosph9 M-phase phosphoprotein 9 JBrowse link 12 37,700,282 37,766,487 RGD:8554872
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:7240710
RGD:8554872
compartment syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpx hemopexin JBrowse link 1 170,423,558 170,431,066 RGD:11554173
Compton-North congenital myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntn1 contactin 1 JBrowse link 7 133,290,606 133,588,314 RGD:7240710
RGD:8554872
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:7240710
RGD:8554872
congenital contractural arachnodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:1300364
RGD:8554872
RGD:7240710
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872
RGD:7240710
congenital diaphragmatic hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:12859277
G Agtr2 angiotensin II receptor, type 2 JBrowse link X 119,389,480 119,393,845 RGD:6903875
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11341670
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068407
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:11038813
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11554173
G Ccn2 cellular communication network factor 2 JBrowse link 1 21,851,657 21,854,773 RGD:11554173
G Cdk8 cyclin-dependent kinase 8 JBrowse link 12 10,496,273 10,561,335 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:11554173
RGD:8554872
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585688
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:9588310
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Fgfrl1 fibroblast growth factor receptor-like 1 JBrowse link 14 2,020,110 2,032,169 RGD:11554173
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:11554173
G Foxf1 forkhead box F1 JBrowse link 19 53,012,306 53,016,100 RGD:11554173
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554181
RGD:8554872
RGD:11554173
RGD:11554195
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:11554173
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:9068407
RGD:8554872
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12904929
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:11554173
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:10402563
G Igf2r insulin-like growth factor 2 receptor JBrowse link 1 48,176,095 48,264,482 RGD:11554173
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:10402761
G Igfbp5 insulin-like growth factor binding protein 5 JBrowse link 9 80,154,230 80,166,813 RGD:10402761
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:11554173
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 JBrowse link 9 27,565,869 28,141,114 RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11553839
RGD:13592920
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:13592920
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:8554872
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Myod1 myogenic differentiation 1 JBrowse link 1 102,396,538 102,399,248 RGD:11554173
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:13592920
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:13504720
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 JBrowse link 1 131,447,671 131,465,749 RGD:13592920
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:8554872
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:13592920
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase JBrowse link 20 8,165,423 8,169,557 RGD:11554173
G Rhoa ras homolog family member A JBrowse link 8 117,082,440 117,116,244 RGD:11554173
G Robo4 roundabout guidance receptor 4 JBrowse link 8 39,082,693 39,093,344 RGD:8554872
G Slit3 slit guidance ligand 3 JBrowse link 10 19,924,200 20,517,918 RGD:13592920
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11035301
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11035301
G Sox7 SRY-box transcription factor 7 JBrowse link 15 47,293,699 47,300,460 RGD:13592920
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:12904053
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7421593
G Wnt11 Wnt family member 11 JBrowse link 1 163,794,136 163,813,756 RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:11554173
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:13592920
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory JBrowse link 2 188,583,664 188,584,179 RGD:8554872
RGD:7240710
congenital fiber-type disproportion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:8554872
RGD:7240710
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:13592920
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:13592920
RGD:8554872
G Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:8554872
RGD:7240710
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:13592920
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:8554872
RGD:7240710
congenital merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:5688132
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:7240710
RGD:8554872
RGD:13605609
congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:13592920
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
G Fkbp14 FKBP prolyl isomerase 14 JBrowse link 4 84,753,628 84,768,314 RGD:8554872
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
congenital muscular dystrophy due to integrin alpha-7 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
G Itga7 integrin subunit alpha 7 JBrowse link 7 3,355,079 3,383,886 RGD:7240710
RGD:8554872
RGD:13601979
congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:7240710
RGD:8554872
RGD:12791283
Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inpp5k inositol polyphosphate-5-phosphatase K JBrowse link 10 63,775,639 63,796,879 RGD:8554872
RGD:7240710
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
Congenital Muscular Dystrophy, Davignon-Chauveau Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip4 thyroid hormone receptor interactor 4 JBrowse link 8 71,369,121 71,533,281 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankmy2 ankyrin repeat and MYND domain containing 2 JBrowse link 6 55,646,905 55,689,223 RGD:8554872
G Bzw2 basic leucine zipper and W2 domains 2 JBrowse link 6 55,586,754 55,647,650 RGD:8554872
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:7240710
RGD:8554872
G Lrrc72 leucine rich repeat containing 72 JBrowse link 6 55,694,269 55,757,234 RGD:8554872
G Sostdc1 sclerostin domain containing 1 JBrowse link 6 55,812,820 55,816,994 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
RGD:13592920
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
RGD:13592920
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:13592920
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
RGD:7240710
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:13592920
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rxylt1 ribitol xylosyltransferase 1 JBrowse link 7 64,329,341 64,341,201 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:7240710
RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fnta farnesyltransferase, CAAX box, alpha JBrowse link 16 70,834,957 70,854,724 RGD:8554872
G Hook3 hook microtubule-tethering protein 3 JBrowse link 16 70,710,347 70,818,789 RGD:8554872
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:7240710
RGD:8554872
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:8554872
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:8554872
RGD:7240710
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
RGD:7240710
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:7240710
RGD:8554872
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:8554872
RGD:7240710
congenital myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:13592920
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Congenital Myopathy with Excess of Muscle Spindles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myl1 myosin, light chain 1 JBrowse link 9 73,937,820 73,958,480 RGD:7240710
RGD:8554872
Congenital Myopathy with Neuropathy and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptbn4 spectrin, beta, non-erythrocytic 4 JBrowse link 1 84,168,494 84,254,679 RGD:8554872
RGD:7240710
Congenital Myopathy with Structured Cores and Z-Line Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
RGD:7240710
Congenital Myopathy with Tremor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:8554872
RGD:7240710
Congenital Neuromuscular Disease, with Uniform Type 1 Fiber term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
Congenital Proximal Myopathy with Minicore Lesions term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxr1 FMR1 autosomal homolog 1 JBrowse link 2 120,529,716 120,570,356 RGD:8554872
RGD:7240710
congenital structural myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:11554173
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:1578366
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:11554173
G Ccdc78 coiled-coil domain containing 78 JBrowse link 10 15,155,839 15,160,039 RGD:11554173
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:11554173
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:1581815
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:1600519
RGD:11554173
G Mtmr14 myotubularin related protein 14 JBrowse link 4 145,195,046 145,238,097 RGD:11554173
G Myf6 myogenic factor 6 JBrowse link 7 49,739,643 49,741,490 RGD:1600529
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:11554173
RGD:8554872
G Orai1 ORAI calcium release-activated calcium modulator 1 JBrowse link 12 38,981,903 38,995,570 RGD:11554173
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:11554173
RGD:8554872
G Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:11554173
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:11554173
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:11554173
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:11554173
Contracture term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca7 ATP binding cassette subfamily A member 7 JBrowse link 7 12,742,433 12,762,423 RGD:8554872
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
G Antxr2 ANTXR cell adhesion molecule 2 JBrowse link 14 13,191,716 13,331,286 RGD:11554173
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11041578
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:11041578
G Drg1 developmentally regulated GTP binding protein 1 JBrowse link 14 83,460,540 83,476,568 RGD:8554872
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 JBrowse link 10 16,821,393 16,912,050 RGD:8554872
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:8554872
G Fgfrl1 fibroblast growth factor receptor-like 1 JBrowse link 14 2,020,110 2,032,169 RGD:8554872
G Flii FLII, actin remodeling protein JBrowse link 10 46,955,460 46,969,468 RGD:8554872
G Gldn gliomedin JBrowse link 8 58,870,516 58,914,605 RGD:8554872
G Hoxa11 homeobox A11 JBrowse link 4 82,296,888 82,301,419 RGD:8554872
G Mid1ip1 MID1 interacting protein 1 JBrowse link X 13,114,557 13,119,274 RGD:8554872
G Mybpc2 myosin binding protein C2 JBrowse link 1 100,506,704 100,530,201 RGD:8554872
G Myh7b myosin heavy chain 7B JBrowse link 3 151,105,038 151,150,621 RGD:8554872
G Myo9a myosin IXA JBrowse link 8 64,573,248 64,777,607 RGD:8554872
G Myom2 myomesin 2 JBrowse link 16 79,587,136 79,672,871 RGD:8554872
G Myom3 myomesin 3 JBrowse link 5 154,109,293 154,159,943 RGD:8554872
G Nr2c1 nuclear receptor subfamily 2, group C, member 1 JBrowse link 7 35,069,807 35,122,810 RGD:8554872
G Prdm2 PR/SET domain 2 JBrowse link 5 161,769,587 161,879,150 RGD:8554872
G Prg4 proteoglycan 4 JBrowse link 13 67,672,588 67,688,902 RGD:11554173
G Psd3 pleckstrin and Sec7 domain containing 3 JBrowse link 16 23,212,165 23,789,414 RGD:8554872
G Ryr3 ryanodine receptor 3 JBrowse link 3 104,117,307 104,665,151 RGD:8554872
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:11072411
G Spast spastin JBrowse link 6 22,230,067 22,282,166 RGD:8554872
G Sptbn4 spectrin, beta, non-erythrocytic 4 JBrowse link 1 84,168,494 84,254,679 RGD:8554872
G Syt2 synaptotagmin 2 JBrowse link 13 51,569,248 51,577,824 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Tmem214 transmembrane protein 214 JBrowse link 6 26,867,638 26,875,384 RGD:8554872
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:8554872
G Vps8 VPS8 subunit of CORVET complex JBrowse link 11 83,104,912 83,323,606 RGD:8554872
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:7240710
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872
Craniomandibular Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:10043096
craniometaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:8554872
RGD:13592920
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:13592920
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:13592920
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:13592920
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:13592920
dermatomyositis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angptl2 angiopoietin-like 2 JBrowse link 3 12,262,822 12,292,665 RGD:13592920
G C2 complement C2 JBrowse link 20 4,542,340 4,561,152 RGD:11554173
G C9 complement C9 JBrowse link 2 55,775,562 55,823,807 RGD:11554173
G Ccr2 C-C motif chemokine receptor 2 RGD:8661727
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:6893508
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:8547765
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8547765
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:9491763
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662437
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548628
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7794747
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:4889547
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:7794747
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:8693750
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:8547876
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547876
G Pms1 PMS1 homolog 1, mismatch repair system component JBrowse link 9 53,120,656 53,206,520 RGD:2324870
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661693
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:5685006
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:7794747
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7794747
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:7794747
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
diaphragmatic eventration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
Diaphragmatic Hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
G Agtr1a angiotensin II receptor, type 1a JBrowse link 17 35,907,102 35,958,136 RGD:11554173
G Agtr1b angiotensin II receptor, type 1b JBrowse link 2 105,149,020 105,224,335 RGD:11554173
G Aqp5 aquaporin 5 JBrowse link 7 141,249,044 141,252,576 RGD:11554173
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:11554173
G Cdk8 cyclin-dependent kinase 8 JBrowse link 12 10,496,273 10,561,335 RGD:8554872
G Cftr CF transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:11554173
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:11554173
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:11554173
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:11554173
G Fgf18 fibroblast growth factor 18 JBrowse link 10 18,047,109 18,082,290 RGD:11554173
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:11554173
G Foxa2 forkhead box A2 JBrowse link 3 142,383,084 142,387,493 RGD:11554173
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:11554173
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:8554872
RGD:11554173
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:11554173
G Hoxa5 homeo box A5 RGD:11554173
G Hoxb3 homeo box B3 JBrowse link 10 84,170,629 84,196,823 RGD:11554173
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:11554173
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Kcna2 potassium voltage-gated channel subfamily A member 2 JBrowse link 2 209,838,607 209,852,471 RGD:11554173
G Kcnb1 potassium voltage-gated channel subfamily B member 1 JBrowse link 3 163,850,785 163,935,610 RGD:11554173
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:11554173
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:11554173
G Myod1 myogenic differentiation 1 JBrowse link 1 102,396,538 102,399,248 RGD:9686080
G Nkx2-1 NK2 homeobox 1 JBrowse link 6 77,418,096 77,423,383 RGD:1600158
RGD:11554173
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:5132862
RGD:11554173
G Nppa natriuretic peptide A JBrowse link 5 164,808,407 164,809,716 RGD:11554173
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 JBrowse link 1 131,447,671 131,465,749 RGD:11554173
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:1580942
G Rxra retinoid X receptor alpha JBrowse link 3 6,272,560 6,295,354 RGD:1643107
G Sftpb surfactant protein B JBrowse link 4 100,166,855 100,175,941 RGD:11554173
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:11554173
G Slit3 slit guidance ligand 3 JBrowse link 10 19,924,200 20,517,918 RGD:11554173
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:4145129
RGD:11554173
G Thra thyroid hormone receptor alpha JBrowse link 10 86,657,285 86,684,935 RGD:11554173
G Thrb thyroid hormone receptor beta JBrowse link 15 8,890,578 9,239,815 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Uchl1 ubiquitin C-terminal hydrolase L1 JBrowse link 14 43,133,224 43,143,942 RGD:11554173
G Vcam1 vascular cell adhesion molecule 1 JBrowse link 2 219,071,193 219,090,931 RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:11554173
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:11554173
Diaphragmatic Hernia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:7240710
RGD:8554872
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtap methylthioadenosine phosphorylase JBrowse link 5 107,711,077 107,777,530 RGD:7240710
RGD:8554872
Dimauro Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dbnl drebrin-like JBrowse link 14 86,029,335 86,044,364 RGD:8554872
G Pgam2 phosphoglycerate mutase 2 JBrowse link 14 86,045,005 86,047,116 RGD:7240710
RGD:8554872
distal arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:13592920
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:13592920
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Mylpf myosin light chain, phosphorylatable, fast skeletal muscle JBrowse link 1 198,655,835 198,658,590 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:8554872
RGD:13592920
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
distal arthrogryposis type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap1 contactin associated protein 1 JBrowse link 10 89,087,904 89,103,615 RGD:8554872
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:7240710
RGD:8554872
distal arthrogryposis type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:7240710
RGD:8554872
distal arthrogryposis type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
distal arthrogryposis type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:11554173
RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
distal arthrogryposis type 2B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:12792960
RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:7240710
distal arthrogryposis type 2B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
RGD:7240710
distal arthrogryposis type 2B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872
Distal Arthrogryposis Type 2B4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
distal arthrogryposis type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
distal arthrogryposis type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
distal arthrogryposis type 5D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:7240710
RGD:8554872
distal arthrogryposis type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:7240710
RGD:8554872
RGD:12914760
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
RGD:7240710
distal muscular dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy5 adenylate cyclase 5 JBrowse link 11 68,695,839 68,842,452 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:7240710
RGD:8554872
G Frmd1 FERM domain containing 1 JBrowse link 1 54,316,651 54,328,405 RGD:8554872
distal muscular dystrophy Tateyama type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:7240710
RGD:8554872
G Ssuh2 ssu-2 homolog JBrowse link 4 144,301,913 144,322,197 RGD:8554872
distal muscular dystrophy with anterior tibial onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:7240710
RGD:8554872
RGD:11554173
distal myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:13592920
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:11068981
G Matr3 matrin 3 JBrowse link 18 28,351,691 28,390,764 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
RGD:11554173
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
RGD:11554173
distal myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
RGD:7240710
Distal Myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adssl1 adenylosuccinate synthase like 1 JBrowse link 6 137,184,818 137,206,694 RGD:8554872
RGD:7240710
Distal Myopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:7240710
RGD:8554872
Donnai-Barrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:7240710
RGD:8554872
Duchenne muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap6 A-kinase anchoring protein 6 JBrowse link 6 73,553,111 73,991,992 RGD:14349026
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11554173
G Cd4 Cd4 molecule JBrowse link 4 157,381,862 157,408,357 RGD:11554173
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:13592920
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11073211
RGD:11552581
RGD:11537476
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:1580859
RGD:8554872
RGD:11554173
RGD:12880034
RGD:12880014
RGD:12880007
RGD:11040981
RGD:12879862
RGD:737706
RGD:7240710
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang RGD:12880034
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi RGD:11040981
G Itga7 integrin subunit alpha 7 JBrowse link 7 3,355,079 3,383,886 RGD:13601981
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204809
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:13825135
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:12910703
G Postn periostin JBrowse link 2 143,656,820 143,688,087 RGD:11554173
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:12903957
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:12903957
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 RGD:1580161
G Utrn utrophin JBrowse link 1 6,451,809 6,970,040 RGD:737706
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
Dysferlinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
dystonia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:7240710
RGD:8554872
RGD:12879478
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 64,249,576 64,428,444 RGD:7240710
RGD:8554872
Early-Onset Myopathy with Fatal Cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:7240710
RGD:8554872
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf10 multiple EGF-like domains 10 JBrowse link 18 52,215,652 52,366,212 RGD:7240710
RGD:8554872
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp14 FKBP prolyl isomerase 14 JBrowse link 4 84,753,628 84,768,314 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872
embryonal rhabdomyosarcoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:11554173
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:11554173
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 3 110,367,949 110,420,471 RGD:11554173
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:11554173
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:8554872
G Myod1 myogenic differentiation 1 JBrowse link 1 102,396,538 102,399,248 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Setd2 SET domain containing 2, histone lysine methyltransferase JBrowse link 8 118,802,478 118,888,224 RGD:11554173
G Slc22a18 solute carrier family 22, member 18 JBrowse link 1 216,676,330 216,700,632 RGD:13592920
G Stk11 serine/threonine kinase 11 JBrowse link 7 12,440,751 12,457,513 RGD:8554872
G Yap1 Yes1 associated transcriptional regulator JBrowse link 8 6,133,014 6,204,240 RGD:11554173
Emery-Dreifuss muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:1598907
RGD:8554872
RGD:11554173
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Gtpbp1 GTP binding protein 1 JBrowse link 7 120,923,274 120,947,723 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:1580516
RGD:8554872
RGD:11554173
G Sun1 Sad1 and UNC84 domain containing 1 JBrowse link 12 17,488,482 17,533,334 RGD:10044242
RGD:8554872
G Sun2 Sad1 and UNC84 domain containing 2 JBrowse link 7 120,950,391 120,967,583 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:8554872
RGD:11554173
RGD:13209003
G Syne2 spectrin repeat containing nuclear envelope protein 2 JBrowse link 6 98,884,269 99,153,551 RGD:8554872
RGD:11554173
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:11554173
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:13592920
eosinophilia-myalgia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11554173
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:11554173
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 RGD:8554872
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdx2 ferredoxin 2 JBrowse link 8 22,086,534 22,091,450 RGD:7240710
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:8554872
G Slc25a42 solute carrier family 25, member 42 JBrowse link 16 20,962,144 21,000,191 RGD:8554872
Epithelioid Leiomyoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:11554173
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:11554173
Erythrocyte Amp Deaminase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ampd3 adenosine monophosphate deaminase 3 JBrowse link 1 175,585,301 175,630,479 RGD:8554872
RGD:7240710
Erythrocyte Lactate Transporter Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a1 solute carrier family 16 member 1 JBrowse link 2 207,108,552 207,129,352 RGD:7240710
RGD:8554872
Exertional Myalgia, Muscle Stiffness and Myoglobinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
Facial Dysmorphism with Multiple Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:11554173
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:11554173
facioscapulohumeral muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:11554173
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:11554173
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:11554173
G Dcn decorin JBrowse link 7 38,742,250 38,782,282 RGD:11554173
G Dux4 double homeobox 4 JBrowse link 16 3,754,968 3,766,532 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:11554173
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:13592920
G Gstt2 glutathione S-transferase, theta 2 JBrowse link 20 13,760,810 13,764,481 RGD:11554173
G Hspa1b heat shock protein family A (Hsp70) member 1B JBrowse link 20 4,877,638 4,880,112 RGD:11554173
G Hspa4 heat shock protein family A (Hsp70) member 4 JBrowse link 10 38,601,624 38,642,397 RGD:11554173
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:13592920
G Lum lumican JBrowse link 7 38,820,058 38,826,862 RGD:11554173
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580621
facioscapulohumeral muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frg1 FSHD region gene 1 JBrowse link 16 53,957,858 53,978,865 RGD:11554173
facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emilin2 elastin microfibril interfacer 2 JBrowse link 9 119,594,049 119,653,675 RGD:8554872
G Lpin2 lipin 2 JBrowse link 9 119,517,101 119,591,533 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:7240710
RGD:8554872
RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:11554173
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:7240710
RGD:8554872
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:8554872
RGD:7240710
Familial Idiopathic Inflammatory Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:11535001
familial periodic paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 JBrowse link 10 99,429,337 99,442,520 RGD:1580802
RGD:8554872
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser