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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 chr10:104,724,534...104,748,003
Ensembl chr10:104,722,958...104,748,050
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
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 chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771
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 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 6:75,759,140...75,763,185
Ensembl chr 6:75,759,140...75,763,185
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
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 PMID:24314752 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27447704 PMID:28492532 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
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 4:2,711,329...2,774,969
Ensembl chr 4:2,711,385...2,774,890
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 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
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:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
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 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28492532 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Gyg1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 2:104,916,734...104,958,219
Ensembl chr 2:104,916,738...104,958,034
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 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle weakness
CTD
ClinVar
PMID:15111675 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541
Ensembl chr 9:35,574,002...35,593,541
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 PMID:27890673 PMID:28492532 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12427913 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscle weakness
ClinVar Annotator: match by term: Muscular weakness
ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:8528245 PMID:12039972 PMID:17329572 PMID:18391953 PMID:21415153 PMID:22009145 PMID:23328711 PMID:24033266 PMID:25741868 PMID:26921350 PMID:28492532 NCBI chr19:11,106,033...11,144,674
Ensembl chr19:11,106,033...11,144,641
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Muscular weakness ClinVar NCBI chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666374 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO Diaphragm Weakness RGD PMID:21097524 RGD:5130943 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17444505 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
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 PMID:26200674 PMID:28492532 NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
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:26285866 PMID:26467025 PMID:28492532 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
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 PMID:17855635 PMID:20495179 PMID:23758206 PMID:24988567 PMID:25525159 PMID:25741868 PMID:27493029 PMID:28492532 NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:26467025 PMID:28492532 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
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 chr19:10,583,855...10,596,848
Ensembl chr19:10,583,857...10,596,851
JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr17:90,033,432...90,072,506
Ensembl chr17:90,033,539...90,071,408
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 chr20:47,966,513...48,192,747
Ensembl chr20:47,966,583...48,192,743
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:24336167 PMID:25741868 PMID:28708303 PMID:29721912 NCBI chr20:29,284,833...29,433,617
Ensembl chr20:29,284,853...29,432,258
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:17564966 PMID:20816094 PMID:20929961 PMID:21057504 PMID:22200994 PMID:22277967 PMID:22499348 PMID:25326637 PMID:25721401 PMID:25741868 PMID:26669660 PMID:27233227 PMID:27290639 PMID:27884173 PMID:28279569 PMID:28492532 PMID:28529009 PMID:30025539 PMID:30311383 PMID:32313153 NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768
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:21057504 PMID:22499348 PMID:27233227 PMID:28492532 NCBI chr 4:119,572,669...119,626,852 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 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
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:18691923 PMID:23104095 PMID:23798481 PMID:23889995 PMID:25741868 PMID:28492532 NCBI chr 3:147,793,014...147,809,941
Ensembl chr 3:147,793,017...147,809,919
JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar NCBI chr15:34,270,037...34,282,385
Ensembl chr15:34,270,648...34,282,495
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 3:147,585,947...147,602,343
Ensembl chr 3:147,585,947...147,597,660
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 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
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 3:147,608,850...147,614,410
Ensembl chr 3:147,609,095...147,632,801
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 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
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 3:147,643,250...147,649,511
Ensembl chr 3:147,643,250...147,649,504
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 PMID:27718144 PMID:28453664 PMID:28492532 PMID:29143313 PMID:29264399 NCBI chr 2:104,916,734...104,958,219
Ensembl chr 2:104,916,738...104,958,034
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 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
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 PMID:20495179 PMID:24033266 PMID:25373618 PMID:25525159 PMID:25741868 PMID:27493029 NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
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 chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
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 chr17:89,951,662...90,033,334
Ensembl chr17:89,951,752...90,033,328
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:28492532 NCBI chr17:90,033,432...90,072,506
Ensembl chr17:90,033,539...90,071,408
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 chr20:47,966,513...48,192,747
Ensembl chr20:47,966,583...48,192,743
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 chr13:98,231,326...98,447,762
Ensembl chr13:98,231,326...98,447,762
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 PMID:20495179 PMID:22036850 PMID:24033266 PMID:24164873 PMID:24218524 PMID:25131622 PMID:25280894 PMID:25326637 PMID:25356970 PMID:25498144 PMID:25558065 PMID:25741868 PMID:26467025 PMID:26640698 PMID:27106809 PMID:28125198 PMID:28492532 PMID:29482223 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
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 PMID:25741868 PMID:25802402 PMID:26081641 PMID:28492532 PMID:28736527 PMID:29255295 PMID:30482867 NCBI chr19:10,583,855...10,596,848
Ensembl chr19:10,583,857...10,596,851
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:30682496 NCBI chr 6:108,076,393...108,087,782
Ensembl chr 6:108,076,306...108,087,696
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:30682496 NCBI chr 6:108,087,677...108,123,811
Ensembl chr 6:108,087,418...108,120,579
JBrowse link
G Fam161b FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 6 ClinVar PMID:25741868 NCBI chr 6:108,060,019...108,076,303
Ensembl chr 6:108,061,063...108,076,186
JBrowse link
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:8,421,116...8,444,743
Ensembl chr 3:8,430,829...8,444,851
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 OMIM
ClinVar
PMID:25658047 PMID:25741868 PMID:26185144 PMID:26795593 PMID:27513193 PMID:28492532 PMID:28540186 PMID:32860008 NCBI chr 3:8,349,386...8,357,719
Ensembl chr 3:8,349,185...8,357,871
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:11,338,081...11,382,043
Ensembl chr 3:11,338,083...11,382,043
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:11,317,328...11,337,569
Ensembl chr 3:11,317,183...11,336,458
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Mir2964 microRNA 2964 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:8,407,427...8,407,526
Ensembl chr 3:8,407,427...8,407,526
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:8,449,733...8,495,764
Ensembl chr 3:8,450,275...8,496,008
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:11,307,981...11,317,049
Ensembl chr 3:11,307,981...11,317,049
JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:8,338,479...8,348,746
Ensembl chr 3:8,338,484...8,348,746
JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:28492532 NCBI chr 3:8,389,024...8,405,868
Ensembl chr 3:8,389,024...8,405,868
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:31240163 PMID:32963807 NCBI chr 1:188,176,060...188,190,874
Ensembl chr 1:188,174,874...188,190,860
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 chr12:47,078,753...47,095,438
Ensembl chr12:47,078,753...47,095,438
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Pathological Conditions, Signs and Symptoms 8834
      Pathologic Processes 6208
        Muscle Weakness 77
          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 + 27
          myopathy with extrapyramidal signs 1
          nuclear type mitochondrial complex I deficiency 20 2
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        peripheral nervous system disease 2432
          neuropathy 2246
            neuromuscular disease 1764
              muscular disease 1167
                Muscle Weakness 77
                  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 + 27
                  myopathy with extrapyramidal signs 1
                  nuclear type mitochondrial complex I deficiency 20 2
paths to the root