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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Muscle Weakness
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Accession:DOID:9005532 term browser browse the term
Definition:A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Synonyms:exact_synonym: Muscle Weaknesses;   Muscular Weakness;   Muscular Weaknesses
 narrow_synonym: PROGRESSIVE MUSCLE WEAKNESS
 primary_id: MESH:D018908;   RDO:0002465
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Muscle Weakness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr10:101,406,197...101,431,242
Ensembl chr10:101,406,197...101,431,232
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:19309692 PMID:20576434 PMID:20976770 PMID:21280092 PMID:24033266 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscular weakness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:26930420 PMID:30074247 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Progressive muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
JBrowse link
G Gyg1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Progressive muscle weakness ClinVar PMID:14506069 PMID:25741868 PMID:28492532 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle weakness
CTD
ClinVar
PMID:15111675 NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:19303950 PMID:20157015 PMID:22857269 PMID:25741868 PMID:26467025 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12427913 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 More... NCBI chr19:10,630,649...10,679,250
Ensembl chr19:10,631,393...10,669,091
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29434186 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Muscular weakness ClinVar NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666374 NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO Diaphragm Weakness RGD PMID:21097524 RGD:5130943 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17444505 NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 7:90,884,333...90,936,118
Ensembl chr 7:90,884,197...90,936,103
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trdn triadin ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
ClinVar Annotator: match by OMIM:615441
OMIM
ClinVar
PMID:22422768 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25922419 More... NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
JBrowse link
coenzyme Q10 deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
JBrowse link
G Coq9 coenzyme Q9 ISS
ISO
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
MouseDO
ClinVar
NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:28492532 NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730
JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISS
ISO
OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
MouseDO
ClinVar
NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
JBrowse link
myopathy with extrapyramidal signs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Micu1 mitochondrial calcium uptake 1 ISO ClinVar Annotator: match by term: Myopathy with extrapyramidal signs OMIM
ClinVar
PMID:24033266 PMID:24336167 PMID:25741868 PMID:28708303 PMID:29721912 More... NCBI chr20:27,668,681...27,816,322
Ensembl chr20:27,668,747...27,814,964
JBrowse link
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:611126
OMIM
ClinVar
CTD
PMID:7599230 PMID:16199547 PMID:17564966 PMID:20816094 PMID:20929961 More... NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of ClinVar PMID:20929961 PMID:21057504 PMID:22499348 PMID:25721401 PMID:27233227 More... NCBI chr 4:120,126,565...120,181,575 JBrowse link
Polyglucosan Body Myopathy 1 with or without Immunodeficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2a1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
ClinVar Annotator: match by term: Polyglucosan body myopathy, early-onset, with or without immunodeficiency
ClinVar
OMIM
PMID:2379848 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18691923 More... NCBI chr 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005
JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
JBrowse link
G Scrt2 scratch family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:140,581,593...140,593,299
Ensembl chr 3:140,581,593...140,593,299
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
JBrowse link
G Srxn1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:140,604,490...140,610,050
Ensembl chr 3:140,599,608...140,628,448
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
JBrowse link
G Tcf15 transcription factor 15 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr 3:140,638,984...140,644,766
Ensembl chr 3:140,638,984...140,644,766
JBrowse link
Polyglucosan Body Myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gyg1 glycogenin 1 ISO ClinVar Annotator: match by OMIM:616199
ClinVar Annotator: match by term: Polyglucosan body myopathy 2
ClinVar
OMIM
PMID:20357282 PMID:24033266 PMID:25272951 PMID:25741868 PMID:26652229 More... NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
JBrowse link
primary coenzyme Q10 deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 1 ClinVar NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 1
ClinVar Annotator: match by OMIM:607426
OMIM
ClinVar
PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17855635 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
JBrowse link
G Coq8a coenzyme Q8A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 1
CTD
ClinVar
PMID:18319072 PMID:24033266 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
JBrowse link
primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi1 abl-interactor 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2 ClinVar NCBI chr17:85,098,837...85,179,829
Ensembl chr17:85,098,550...85,179,792
JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2
ClinVar Annotator: match by OMIM:614651
OMIM
ClinVar
PMID:17332895 PMID:22494076 PMID:25264263 PMID:25741868 PMID:28492532 NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730
JBrowse link
primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 OMIM
ClinVar
PMID:17186472 PMID:17374725 PMID:20495179 PMID:25741868 PMID:28492532 NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
JBrowse link
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42bpa CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr13:91,683,775...91,903,732
Ensembl chr13:91,684,007...91,903,732
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4
ClinVar Annotator: match by OMIM:612016
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12682339 PMID:15326254 PMID:18319072 PMID:18319074 PMID:18414213 More... NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
JBrowse link
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 5
ClinVar Annotator: match by OMIM:614654
OMIM
ClinVar
PMID:19375058 PMID:20495179 PMID:20689595 PMID:22490322 PMID:23255162 More... NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
JBrowse link
primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq6 coenzyme Q6 monooxygenase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 6
ClinVar Annotator: match by OMIM:614650
OMIM
ClinVar
PMID:21540551 PMID:24140869 PMID:25741868 PMID:28117207 PMID:28492532 More... NCBI chr 6:104,007,814...104,019,888
Ensembl chr 6:104,007,872...104,024,657
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 6
ClinVar PMID:21540551 PMID:24140869 PMID:25741868 PMID:28117207 PMID:28492532 More... NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Fam161b FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 6 ClinVar PMID:25741868 NCBI chr 6:103,990,603...104,007,754
Ensembl chr 6:103,992,170...104,018,776
JBrowse link
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,674,577...15,677,393
Ensembl chr 3:15,674,580...15,677,374
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,118,150...13,155,960
Ensembl chr 3:13,142,107...13,155,956
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,658,479...15,675,716
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 OMIM
ClinVar
PMID:22368301 PMID:25658047 PMID:25741868 PMID:26185144 PMID:26795593 More... NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,855,952...15,858,867 JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,823,147...15,854,651
Ensembl chr 3:15,823,144...15,854,643
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379
JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,583,862...15,604,279
Ensembl chr 3:15,584,039...15,604,279
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Mir2964 microRNA 2964 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,118,623...13,118,722
Ensembl chr 3:13,118,623...13,118,722
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,742,337...15,747,672
Ensembl chr 3:15,742,919...15,747,669
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,160,981...13,207,223
Ensembl chr 3:13,161,494...13,206,985
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,894,278...15,907,502
Ensembl chr 3:15,885,968...15,907,496
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:15,574,687...15,583,760
Ensembl chr 3:15,564,715...15,583,805
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,048,566...16,053,198
Ensembl chr 3:16,048,549...16,052,634
JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,049,220...13,059,836
Ensembl chr 3:13,033,745...13,059,930
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:16,048,484...16,064,598
Ensembl chr 3:16,048,565...16,064,547
JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:22368301 PMID:25658047 PMID:28492532 NCBI chr 3:13,100,340...13,117,064
Ensembl chr 3:13,092,200...13,117,642
Ensembl chr 3:13,092,200...13,117,642
JBrowse link
primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq7 coenzyme Q7, hydroxylase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 8 ClinVar
OMIM
PMID:25741868 PMID:26084283 PMID:28492532 PMID:31240163 PMID:32963807 NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158
JBrowse link
primary coenzyme Q10 deficiency 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq5 coenzyme Q5, methyltransferase ISO ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 9 OMIM
ClinVar
PMID:29044765 NCBI chr12:41,316,922...41,333,855
Ensembl chr12:41,316,748...41,333,848
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Muscle Weakness 97
          Camera Marugo Cohen Syndrome 0
          Episodic Muscle Weakness, X-Linked 0
          Polyglucosan Body Myopathy 1 with or without Immunodeficiency 8
          Polyglucosan Body Myopathy 2 1
          catecholaminergic polymorphic ventricular tachycardia 5 1
          coenzyme Q10 deficiency disease + 46
          myopathy with extrapyramidal signs 1
          nuclear type mitochondrial complex I deficiency 20 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                Muscle Weakness 97
                  Camera Marugo Cohen Syndrome 0
                  Episodic Muscle Weakness, X-Linked 0
                  Polyglucosan Body Myopathy 1 with or without Immunodeficiency 8
                  Polyglucosan Body Myopathy 2 1
                  catecholaminergic polymorphic ventricular tachycardia 5 1
                  coenzyme Q10 deficiency disease + 46
                  myopathy with extrapyramidal signs 1
                  nuclear type mitochondrial complex I deficiency 20 2
paths to the root