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ONTOLOGY REPORT - ANNOTATIONS
Term:congenital structural myopathy
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Accession:DOID:422 term browser browse the term
Definition:A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Synonyms:exact_synonym: Fiber Type Disproportion Myopathy, Congenital;   MTM1;   Myopathy, Centronuclear, Autosomal Dominant;   Myotubular Myopathies;   congenital non progressive myopathies;   congenital non-progressive myopathy;   congenital structural myopathies;   myotubular myopathy;   myotubular myopathy 1
 primary_id: MESH:D020914
 alt_id: OMIA:001374;   RDO:0002591
 xref: NCI:C84648
For additional species annotation, visit the Alliance of Genome Resources.

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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:8554872
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
RGD:8554872
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
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
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
G Ttn titin JBrowse link 3 63,565,160 63,837,815 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
G Ttn titin JBrowse link 3 63,565,160 63,837,815 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 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 Otogl otogelin-like JBrowse link 7 51,768,469 51,935,442 RGD:8554872
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A JBrowse link 7 51,404,971 51,515,382 RGD:8554872
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 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 Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:7240710
RGD:8554872
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:13592920
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:13592920
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:13592920
Congenital Myopathy, with 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:7240710
RGD:8554872
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 Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:7240710
RGD:8554872
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:7240710
RGD:8554872
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
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
fatal infantile hypertonic myofibrillar myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo18b myosin XVIIIb JBrowse link 12 49,761,100 49,979,745 RGD:8554872
RGD:7240710
Minicore Myopathy with External Ophthalmoplegia 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
myofibrillar myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:11554173
RGD:8554872
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
RGD:11554173
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:8554872
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Ky kyphoscoliosis peptidase JBrowse link 8 110,982,777 111,022,666 RGD:11554173
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
RGD:11554173
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:8554872
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 JBrowse link 4 176,565,733 176,581,976 RGD:11554173
myofibrillar myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:8554872
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 JBrowse link 9 82,393,619 82,400,537 RGD:8554872
G Atg9a autophagy related 9A JBrowse link 9 82,382,800 82,393,429 RGD:8554872
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
G Catip ciliogenesis associated TTC17 interacting protein JBrowse link 9 81,644,239 81,652,045 RGD:8554872
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 JBrowse link 9 82,120,059 82,121,527 RGD:8554872
G Cfap65 cilia and flagella associated protein 65 JBrowse link 9 82,163,016 82,197,909 RGD:8554872
G Cnot9 CCR4-NOT transcription complex subunit 9 JBrowse link 9 81,783,349 81,808,815 RGD:8554872
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 JBrowse link 9 82,338,865 82,345,262 RGD:8554872
G Cryba2 crystallin, beta A2 JBrowse link 9 82,151,056 82,154,266 RGD:8554872
G Ctdsp1 CTD small phosphatase 1 JBrowse link 9 81,672,613 81,677,979 RGD:8554872
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:7240710
RGD:8554872
RGD:11554173
RGD:13542086
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:8554872
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:8554872
G Dnpep aspartyl aminopeptidase JBrowse link 9 82,505,529 82,514,399 RGD:8554872
G Fev FEV transcription factor, ETS family member JBrowse link 9 82,142,981 82,146,855 RGD:8554872
G Glb1l galactosidase, beta 1-like JBrowse link 9 82,400,457 82,410,970 RGD:8554872
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:13592920
G Mir26b microRNA 26b JBrowse link 9 81,675,275 81,675,359 RGD:8554872
G Mir375 microRNA 375 JBrowse link 9 82,161,716 82,161,790 RGD:8554872
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:8554872
G Plcd4 phospholipase C, delta 4 JBrowse link 9 81,816,395 81,844,364 RGD:8554872
G Pnkd PNKD metallo-beta-lactamase domain containing JBrowse link 9 81,566,074 81,634,531 RGD:8554872
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 JBrowse link 9 81,999,368 82,008,620 RGD:8554872
G Ptprn protein tyrosine phosphatase, receptor type, N JBrowse link 9 82,446,626 82,462,314 RGD:8554872
G Resp18 regulated endocrine-specific protein 18 JBrowse link 9 82,470,794 82,477,136 RGD:8554872
G Retreg2 reticulophagy regulator family member 2 JBrowse link 9 82,345,686 82,351,800 RGD:8554872
G Rnf25 ring finger protein 25 JBrowse link 9 81,873,293 81,880,172 RGD:8554872
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:8554872
G Slc23a3 solute carrier family 23, member 3 JBrowse link 9 82,328,007 82,338,576 RGD:8554872
G Stk16 serine/threonine kinase 16 JBrowse link 9 82,411,010 82,414,249 RGD:8554872
G Stk36 serine/threonine kinase 36 JBrowse link 9 81,880,175 81,908,014 RGD:8554872
G Tmbim1 transmembrane BAX inhibitor motif containing 1 JBrowse link 9 81,569,289 81,586,469 RGD:8554872
G Ttll4 tubulin tyrosine ligase like 4 JBrowse link 9 81,925,363 81,961,882 RGD:8554872
G Tuba4a tubulin, alpha 4A JBrowse link 9 82,415,599 82,419,918 RGD:8554872
G Usp37 ubiquitin specific peptidase 37 JBrowse link 9 81,717,626 81,818,421 RGD:8554872
G Vil1 villin 1 JBrowse link 9 81,689,802 81,717,623 RGD:8554872
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
G Wnt6 Wnt family member 6 JBrowse link 9 82,033,543 82,047,172 RGD:8554872
G Zfand2b zinc finger AN1-type containing 2B JBrowse link 9 82,370,887 82,373,843 RGD:8554872
G Zfp142 zinc finger protein 142 JBrowse link 9 81,844,138 81,868,086 RGD:8554872
myofibrillar myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
RGD:8554872
myofibrillar myopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:8554872
RGD:11554173
RGD:7240710
myofibrillar myopathy 4 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:7240710
RGD:8554872
myofibrillar myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:7240710
RGD:8554872
myofibrillar myopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:7240710
RGD:8554872
myofibrillar myopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep63 centrosomal protein 63 JBrowse link 8 111,063,988 111,116,014 RGD:8554872
G Ephb1 Eph receptor B1 JBrowse link 8 110,376,954 110,813,193 RGD:8554872
G Ky kyphoscoliosis peptidase JBrowse link 8 110,982,777 111,022,666 RGD:8554872
RGD:7240710
myofibrillar myopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 JBrowse link 4 176,565,733 176,581,976 RGD:8554872
RGD:7240710
myofibrillar myopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
RGD:7240710
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 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
Myosclerosis, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:7240710
RGD:8554872
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
nemaline 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
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:1578366
G Cfl2 cofilin 2 JBrowse link 6 75,759,140 75,763,185 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Kbtbd13 kelch repeat and BTB domain containing 13 JBrowse link 8 70,907,934 70,909,671 RGD:8554872
G Klhl41 kelch-like family member 41 JBrowse link 3 55,910,177 55,923,303 RGD:8554872
RGD:13592920
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:1600404
RGD:8554872
nemaline myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:7240710
RGD:8554872
nemaline myopathy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmod3 leiomodin 3 JBrowse link 4 129,604,378 129,619,136 RGD:7240710
RGD:8554872
nemaline myopathy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
RGD:7240710
nemaline myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:7240710
RGD:8554872
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8554872
nemaline myopathy 3 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:7240710
RGD:8554872
nemaline myopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:7240710
RGD:8554872
nemaline myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:737736
RGD:8554872
RGD:7240710
nemaline myopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankdd1a ankyrin repeat and death domain containing 1A JBrowse link 8 71,034,630 71,057,265 RGD:8554872
G Aph1b aph-1 homolog B, gamma secretase subunit JBrowse link 8 72,508,008 72,598,921 RGD:8554872
G Ca12 carbonic anhydrase 12 JBrowse link 8 72,405,770 72,461,425 RGD:8554872
G Ciao2a cytosolic iron-sulfur assembly component 2A JBrowse link 8 71,786,336 71,798,258 RGD:8554872
G Cilp cartilage intermediate layer protein JBrowse link 8 70,760,922 70,775,891 RGD:8554872
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit JBrowse link 8 70,789,137 70,843,133 RGD:8554872
G Csnk1g1 casein kinase 1, gamma 1 JBrowse link 8 71,533,372 71,688,483 RGD:8554872
G Dapk2 death-associated protein kinase 2 JBrowse link 8 71,822,107 71,941,941 RGD:8554872
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Dpp8 dipeptidylpeptidase 8 JBrowse link 8 70,521,782 70,576,180 RGD:8554872
G Fbxl22 F-box and leucine-rich repeat protein 22 JBrowse link 8 72,198,043 72,204,730 RGD:8554872
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 JBrowse link 8 70,471,572 70,509,874 RGD:8554872
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
G Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 JBrowse link 8 70,630,546 70,685,882 RGD:8554872
G Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 JBrowse link 8 70,591,561 70,627,329 RGD:8554872
G Ints14 integrator complex subunit 14 JBrowse link 8 70,446,157 70,471,140 RGD:8554872
G Kbtbd13 kelch repeat and BTB domain containing 13 JBrowse link 8 70,907,934 70,909,671 RGD:7240710
RGD:8554872
G Lactb lactamase, beta JBrowse link 8 72,750,174 72,766,307 RGD:8554872
G Megf11 multiple EGF-like-domains 11 JBrowse link 8 69,859,256 70,191,070 RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Oaz2 ornithine decarboxylase antizyme 2 JBrowse link 8 71,216,011 71,229,788 RGD:8554872
G Parp16 poly (ADP-ribose) polymerase family, member 16 JBrowse link 8 70,712,393 70,731,212 RGD:8554872
G Pclaf PCNA clamp associated factor JBrowse link 8 71,514,281 71,526,182 RGD:8554872
G Pdcd7 programmed cell death 7 JBrowse link 8 70,860,671 70,875,471 RGD:8554872
G Pif1 PIF1 5'-to-3' DNA helicase JBrowse link 8 71,124,477 71,133,460 RGD:8554872
G Plekho2 pleckstrin homology domain containing O2 JBrowse link 8 71,092,766 71,118,966 RGD:8554872
G Ppib peptidylprolyl isomerase B JBrowse link 8 71,719,681 71,725,538 RGD:8554872
G Rab11a RAB11a, member RAS oncogene family JBrowse link 8 70,192,975 70,215,719 RGD:8554872
G Rab8b RAB8B, member RAS oncogene family JBrowse link 8 72,641,680 72,714,646 RGD:8554872
G Rasl12 RAS-like, family 12 JBrowse link 8 70,915,944 70,931,275 RGD:8554872
G Rbpms2 RNA binding protein, mRNA processing factor 2 JBrowse link 8 71,165,375 71,200,299 RGD:8554872
G Rps27l ribosomal protein S27-like JBrowse link 8 72,741,155 72,746,090 RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
G Slc51b solute carrier family 51, beta subunit JBrowse link 8 70,930,196 70,938,559 RGD:8554872
G Snx1 sorting nexin 1 JBrowse link 8 71,745,687 71,786,182 RGD:8554872
G Snx22 sorting nexin 22 JBrowse link 8 71,725,405 71,728,729 RGD:8554872
G Spg21 SPG21 abhydrolase domain containing, maspardin JBrowse link 8 70,994,531 71,022,302 RGD:8554872
G Trip4 thyroid hormone receptor interactor 4 JBrowse link 8 71,369,121 71,533,281 RGD:8554872
G Ubap1l ubiquitin associated protein 1-like JBrowse link 8 70,876,516 70,895,723 RGD:8554872
G Usp3 ubiquitin specific peptidase 3 JBrowse link 8 72,207,970 72,284,871 RGD:8554872
G Zfp609 zinc finger protein 609 JBrowse link 8 71,230,830 71,337,746 RGD:8554872
nemaline myopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfl2 cofilin 2 JBrowse link 6 75,759,140 75,763,185 RGD:7240710
RGD:8554872
nemaline myopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl40 kelch-like family member 40 JBrowse link 8 130,416,265 130,421,871 RGD:7240710
RGD:8554872
nemaline myopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl41 kelch-like family member 41 JBrowse link 3 55,910,177 55,923,303 RGD:7240710
RGD:8554872
spheroid body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      congenital structural myopathy 129
        Actin-Accumulation Myopathy 0
        Cap Myopathy + 0
        Minicore Myopathy with External Ophthalmoplegia 1
        Myosclerosis, Autosomal Recessive 2
        Myotubular Myopathy with Abnormal Genital Development 0
        Pleoconial Myopathy with Salt Craving 0
        autosomal recessive centronuclear myopathy + 3
        central core myopathy + 1
        centronuclear myopathy 1 7
        centronuclear myopathy 2 1
        centronuclear myopathy 4 1
        centronuclear myopathy X-linked 2
        congenital fiber-type disproportion + 7
        distal muscular dystrophy Tateyama type 2
        myofibrillar myopathy + 54
        nemaline myopathy + 56
        spheroid body myopathy 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        peripheral nervous system disease 2126
          neuropathy 1949
            neuromuscular disease 1521
              muscular disease 958
                muscle tissue disease 685
                  myopathy 551
                    congenital structural myopathy 129
                      Actin-Accumulation Myopathy 0
                      Cap Myopathy + 0
                      Minicore Myopathy with External Ophthalmoplegia 1
                      Myosclerosis, Autosomal Recessive 2
                      Myotubular Myopathy with Abnormal Genital Development 0
                      Pleoconial Myopathy with Salt Craving 0
                      autosomal recessive centronuclear myopathy + 3
                      central core myopathy + 1
                      centronuclear myopathy 1 7
                      centronuclear myopathy 2 1
                      centronuclear myopathy 4 1
                      centronuclear myopathy X-linked 2
                      congenital fiber-type disproportion + 7
                      distal muscular dystrophy Tateyama type 2
                      myofibrillar myopathy + 54
                      nemaline myopathy + 56
                      spheroid body myopathy 1
paths to the root

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