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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


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 chr17:69,890,817...69,928,342
Ensembl chr17:75,445,923...75,479,571 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476 		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 chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729 		JBrowse link
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr2A:44,463,474...44,876,680
Ensembl chr2A:45,398,350...45,808,747 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:28492532 NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473 		JBrowse link
G CHAT choline O-acetyltransferase ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr10:44,574,925...44,629,618 JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr2B:119,757,722...119,768,254
Ensembl chr2B:238,676,495...238,686,987 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:19309692 PMID:20576434 PMID:21280092 PMID:24033266 PMID:24314752 More... NCBI chr21:32,442,859...32,478,076
Ensembl chr21:45,710,491...45,730,895 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:28492532 NCBI chr2B:124,554,478...124,644,482 JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8622042 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:16770791 PMID:17253928 PMID:25007885 PMID:25741868 PMID:28492532 More... NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:148,952,823...149,034,578
Ensembl chr 7:160,646,321...160,726,447 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Progressive muscle weakness ClinVar PMID:25741868 PMID:28492532 PMID:32656949 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr2A:71,495,573...71,730,073
Ensembl chr2A:72,994,888...73,228,846 		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:125,270,340...125,334,961
Ensembl chr  X:135,559,321...135,602,375 		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 chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 7:120,782,584...120,811,504
Ensembl chr 7:133,307,041...133,335,896 		JBrowse link
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393 		JBrowse link
G GYG1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 3:146,015,629...146,055,412
Ensembl chr 3:153,595,624...153,632,740 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Progressive muscle weakness ClinVar PMID:14506069 PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 More... NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659 		JBrowse link
G LOC100984344 calpain-3 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
Ensembl chr15:39,476,302...39,528,820 		JBrowse link
G MYOT myotilin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 5:133,254,644...133,274,615
Ensembl chr 5:139,386,101...139,411,960 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:38,796,991...39,038,824 JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358 		JBrowse link
G PMP22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12427913 NCBI chr17:36,389,549...36,425,161
Ensembl chr17:41,038,302...41,073,872 		JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:38,721,658...38,818,488
Ensembl chr2B:155,985,960...156,052,926 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 NCBI chr17:58,034,146...58,066,644
Ensembl chr17:63,128,550...63,161,043 		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 chr16:37,142,797...37,193,713
Ensembl chr16:56,276,049...56,324,528 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:23143600 PMID:28492532 NCBI chr18:11,479,742...11,627,035
Ensembl chr18:13,785,912...13,933,887 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29434186 PMID:33269387 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar NCBI chr 1:178,187,872...178,308,522
Ensembl chr 1:182,490,401...182,538,123 		JBrowse link
G TBCD tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666374 NCBI chr17:77,170,966...77,371,078
Ensembl chr17:82,971,613...83,158,223 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO Diaphragm Weakness RGD PMID:21097524 RGD:5130943 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613 		JBrowse link
G TTN titin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17444505 NCBI chr2B:65,783,512...66,064,618 JBrowse link
G VCP valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588 		JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Muscle weakness ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:121,710,118...121,777,977
Ensembl chr 8:124,461,424...124,529,262 		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: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 | ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22422768 PMID:23035052 More... NCBI chr 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537 		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 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 PMID:17420317 More... NCBI chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:18319074 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008 		JBrowse link
G COQ9 coenzyme Q9 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr16:37,723,452...37,737,327
Ensembl chr16:56,856,401...56,870,260 		JBrowse link
G PDSS1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:25741868 PMID:28492532 NCBI chr10:26,811,243...26,863,594
Ensembl chr10:27,178,933...27,227,542 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr 6:104,963,942...105,272,807
Ensembl chr 6:108,833,223...109,137,055 		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: Proximal myopathy with extrapyramidal signs OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:24336167 PMID:25741868 PMID:27159402 More... NCBI chr10:68,887,361...69,152,242
Ensembl chr10:71,353,886...71,558,246 		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: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM
ClinVar		 PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 More... NCBI chr 3:125,941,278...125,974,847
Ensembl chr 3:133,298,753...133,331,883 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:25741868 More... NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 More... NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 More... NCBI chr 3:125,971,881...126,061,778 JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20		 ClinVar PMID:20301500 PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 More... NCBI chr 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:25741868 PMID:26072516 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 More... NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849 		JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:23555315 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26467025 More... NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 More... NCBI chr 6:42,554,509...42,570,701
Ensembl chr 6:43,850,129...43,865,355 		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 chr20:689,494...752,092
Ensembl chr20:456,629...521,126 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 without immunodeficiency OMIM
ClinVar		 PMID:2379848 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18691923 More... NCBI chr20:615,987...639,366
Ensembl chr20:386,569...409,580 		JBrowse link
G RNF31 ring finger protein 31 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr14:4,923,391...4,936,959
Ensembl chr14:23,047,893...23,061,923 		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 chr20:872,121...886,773 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 chr20:970,380...986,368
Ensembl chr20:739,556...755,486 		JBrowse link
G SRXN1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr20:855,951...862,640
Ensembl chr20:625,376...631,950 		JBrowse link
G TBC1D20 TBC1 domain family member 20 ISO ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency ClinVar PMID:28492532 NCBI chr20:644,646...670,860
Ensembl chr20:414,066...431,032 		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 chr20:811,907...817,971 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 term: Polyglucosan body myopathy type 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20357282 PMID:24033266 More... NCBI chr 3:146,015,629...146,055,412
Ensembl chr 3:153,595,624...153,632,740 		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 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 ClinVar
OMIM		 PMID:12682339 PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 More... NCBI chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 ClinVar PMID:24033266 NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008 		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: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ClinVar PMID:25741868 NCBI chr10:26,863,648...26,975,376
Ensembl chr10:27,227,960...27,339,434 		JBrowse link
G PDSS1 decaprenyl diphosphate synthase subunit 1 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2 | ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome OMIM
ClinVar		 PMID:17332895 PMID:22494076 PMID:25264263 PMID:25326637 PMID:25741868 More... NCBI chr10:26,811,243...26,863,594
Ensembl chr10:27,178,933...27,227,542 		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 | ClinVar Annotator: match by term: PDSS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17186472 PMID:17374725 PMID:17576681 PMID:19096106 More... NCBI chr 6:104,963,942...105,272,807
Ensembl chr 6:108,833,223...109,137,055 		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 chr 1:202,448,571...202,780,486
Ensembl chr 1:207,438,330...207,766,907 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 OMIM
ClinVar		 PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 More... NCBI chr 1:202,398,986...202,446,255
Ensembl chr 1:207,390,883...207,436,008 		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: COQ9-related condition | ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome OMIM
ClinVar		 PMID:16199547 PMID:19375058 PMID:20495179 PMID:20689595 PMID:22490322 More... NCBI chr16:37,723,452...37,737,327
Ensembl chr16:56,856,401...56,870,260 		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: Familial steroid-resistant nephrotic syndrome with sensorineural deafness OMIM
ClinVar		 PMID:21540551 PMID:24140869 PMID:25741868 PMID:28044327 PMID:28117207 More... NCBI chr14:54,509,514...54,522,310
Ensembl chr14:73,363,711...73,376,545 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness ClinVar PMID:21540551 PMID:24140869 PMID:25741868 PMID:28044327 PMID:28117207 More... NCBI chr14:54,522,428...54,578,501
Ensembl chr14:73,376,684...73,410,468 		JBrowse link
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286 		JBrowse link
G AIF1L allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,218,242...102,244,846
Ensembl chr 9:130,863,031...130,891,744 		JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,898,222...107,908,125 JBrowse link
G AK1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245 		JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,842,850...103,995,331
Ensembl chr 9:132,473,495...132,625,313 		JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652 		JBrowse link
G ARRDC1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,711,276...108,720,942
Ensembl chr 9:137,664,787...137,668,688 		JBrowse link
G ASB6 ankyrin repeat and SOCS box containing 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,761,165...100,768,725
Ensembl chr 9:129,421,661...129,425,868 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,698,024...103,709,834
Ensembl chr 9:132,331,770...132,338,661 		JBrowse link
G BBLN bublin coiled coil protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,281,258...99,284,930
Ensembl chr 9:127,951,037...127,954,779 		JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:105,151,354...105,189,754
Ensembl chr 9:133,759,111...133,782,419 		JBrowse link
G C11H9orf78 chromosome 11 C9orf78 homolog ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,954,771...100,962,794
Ensembl chr 9:129,612,071...129,620,044 		JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,582,983...104,593,960
Ensembl chr 9:133,194,490...133,205,686 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,989,621...109,256,841 JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756 		JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166 		JBrowse link
G CDK9 cyclin dependent kinase 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,905,468...98,909,923
Ensembl chr 9:127,580,862...127,584,935 		JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010 		JBrowse link
G CERCAM cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,541,795...99,560,234
Ensembl chr 9:128,210,576...128,226,175 		JBrowse link
G CFAP157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,825,719...98,834,780
Ensembl chr 9:127,497,791...127,506,177 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,528,991...103,690,634
Ensembl chr 9:132,162,008...132,322,666 		JBrowse link
G CIMIP2A ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,303,199...108,310,953
Ensembl chr 9:137,271,636...137,275,827 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449 		JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		JBrowse link
G COQ4 coenzyme Q4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22368301 PMID:25658047 More... NCBI chr 9:99,444,414...99,457,281
Ensembl chr 9:128,111,957...128,124,918 		JBrowse link
G CRAT carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,220,019...100,236,061
Ensembl chr 9:128,880,057...128,896,484 		JBrowse link
G CYSRT1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,284,155...108,285,850
Ensembl chr 9:137,252,943...137,254,611 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697 		JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,665,553...103,787,705
Ensembl chr 9:132,341,965...132,418,713 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,432,709...107,436,360 JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690 		JBrowse link
G DOLK dolichol kinase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,067,512...100,069,596
Ensembl chr 9:128,731,747...128,733,363 		JBrowse link
G DOLPP1 dolichyldiphosphatase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,205,558...100,215,665
Ensembl chr 9:128,866,331...128,875,710 		JBrowse link
G DPH7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,635,082...108,680,315
Ensembl chr 9:137,597,639...137,627,279 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,055,271...99,058,058
Ensembl chr 9:127,725,780...127,729,589 		JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,170,361...108,189,498 JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,755,972...99,780,279
Ensembl chr 9:128,423,053...128,447,387 		JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133 		JBrowse link
G EEIG1 estrogen-induced osteoclastogenesis regulator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,061,030...99,101,144
Ensembl chr 9:127,731,243...127,771,098 		JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564 		JBrowse link
G ENDOG endonuclease G ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,941,856...99,945,957 JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414 		JBrowse link
G EXD3 exonuclease 3'-5' domain containing 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,366,206...108,490,346
Ensembl chr 9:137,336,229...137,427,312 		JBrowse link
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,815,368...101,826,464
Ensembl chr 9:130,464,487...130,475,719 		JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,700,420...104,734,748
Ensembl chr 9:133,311,168...133,343,841 		JBrowse link
G FAM78A family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,380,073...102,399,992
Ensembl chr 9:131,024,410...131,042,975 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945 		JBrowse link
G FIBCD1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,018,681...102,058,898
Ensembl chr 9:130,668,147...130,695,731 		JBrowse link
G FNBP1 formin binding protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,014,402...101,171,302
Ensembl chr 9:129,675,132...129,780,989 		JBrowse link
G FPGS folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,921,986...98,933,542
Ensembl chr 9:127,593,592...127,604,200 		JBrowse link
G FUBP3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,703,130...101,762,607
Ensembl chr 9:130,353,079...130,411,601 		JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,273,080...104,284,268
Ensembl chr 9:132,889,064...132,897,832 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326 		JBrowse link
G GLE1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,627,336...99,664,537
Ensembl chr 9:128,294,607...128,331,301 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268 		JBrowse link
G GOLGA2 golgin A2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,376,847...99,397,128
Ensembl chr 9:128,047,056...128,065,137 		JBrowse link
G GPR107 G protein-coupled receptor 107 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,181,461...101,268,679
Ensembl chr 9:129,835,175...129,915,666 		JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382 		JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,787,645...103,812,319
Ensembl chr 9:132,418,653...132,437,082 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,150,392...104,178,242
Ensembl chr 9:132,779,664...132,807,518 		JBrowse link
G HMCN2 hemicentin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,393,336...101,558,733
Ensembl chr 9:130,044,739...130,208,799 		JBrowse link
G IER5L immediate early response 5 like ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,300,931...100,303,651 JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482 		JBrowse link
G KYAT1 kynurenine aminotransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,956,240...100,004,366
Ensembl chr 9:128,623,946...128,637,844 		JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,131,594...102,213,829
Ensembl chr 9:130,777,182...130,861,292 		JBrowse link
G LCN1 lipocalin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869 		JBrowse link
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643 		JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304 		JBrowse link
G LCN2 lipocalin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798 		JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178 		JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366 		JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,481,811...106,482,817 JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,093,280...108,097,369 JBrowse link
G LOC100976912 uncharacterized protein C9orf163 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,561,734...107,562,397 JBrowse link
G LOC100983451 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,475,018...104,479,714
Ensembl chr 9:133,085,739...133,088,904 		JBrowse link
G LOC100994627 ficolin-2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992 		JBrowse link
G LOC100994951 ficolin-1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,039,315...106,047,648
Ensembl chr 9:135,040,310...135,049,111 		JBrowse link
G LOC100994982 uncharacterized LOC100994982 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,734,183...100,747,299 JBrowse link
G LRRC26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,228,889...108,230,178
Ensembl chr 9:137,198,298...137,199,602 		JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,003,969...100,039,859
Ensembl chr 9:128,670,292...128,705,466 		JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066 		JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,464,103...104,471,294
Ensembl chr 9:133,074,826...133,082,071 		JBrowse link
G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,982,174...103,199,512
Ensembl chr 9:131,619,441...131,835,951 		JBrowse link
G MIGA2 mitoguardin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,160,068...100,197,095
Ensembl chr 9:128,820,773...128,856,977 		JBrowse link
G MRPL41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,631,543...108,632,733 JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176 		JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,181,980...99,188,002
Ensembl chr 9:127,853,002...127,859,049 		JBrowse link
G NCS1 neuronal calcium sensor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,299,724...101,364,897
Ensembl chr 9:129,950,921...130,016,257 		JBrowse link
G NDOR1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,265,305...108,278,923
Ensembl chr 9:137,233,940...137,247,716 		JBrowse link
G NELFB negative elongation factor complex member B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,314,535...108,333,050
Ensembl chr 9:137,278,964...137,301,751 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NOXA1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,490,455...108,503,555
Ensembl chr 9:137,455,874...137,468,196 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257 		JBrowse link
G NRARP NOTCH regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,358,959...108,361,586 JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,518,698...108,531,316
Ensembl chr 9:137,482,420...137,495,990 		JBrowse link
G NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,752,741...100,762,164
Ensembl chr 9:129,410,048...129,420,092 		JBrowse link
G NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,281,915...103,362,786
Ensembl chr 9:131,917,760...131,998,107 		JBrowse link
G NUP188 nucleoporin 188 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,069,656...100,130,521
Ensembl chr 9:128,733,780...128,791,252 		JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305 		JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,291,500...104,331,592
Ensembl chr 9:132,939,353...132,943,117 		JBrowse link
G ODF2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,577,891...99,623,581
Ensembl chr 9:128,245,049...128,291,202 		JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,206,133...106,253,386
Ensembl chr 9:135,205,710...135,252,598 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,669,550...106,681,918 JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,906,160...107,908,130 JBrowse link
G PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,042,756...100,063,998
Ensembl chr 9:128,708,254...128,728,092 		JBrowse link
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,635,911...106,641,274
Ensembl chr 9:135,628,471...135,633,837 		JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,041,687...99,051,031
Ensembl chr 9:127,712,944...127,722,332 		JBrowse link
G PKN3 protein kinase N3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,825,546...99,844,582
Ensembl chr 9:128,493,251...128,510,476 		JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,411,095...102,431,146
Ensembl chr 9:131,055,406...131,073,474 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569 		JBrowse link
G PNPLA7 patatin like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,531,917...108,631,119
Ensembl chr 9:137,496,924...137,593,154 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,620,368...106,629,655 JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:101,786,052...101,803,287 JBrowse link
G PRRC2B proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,516,585...102,622,588
Ensembl chr 9:131,193,641...131,262,894 		JBrowse link
G PRRX2 paired related homeobox 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,792,324...100,849,923 JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680 		JBrowse link
G PTGES prostaglandin E synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020 		JBrowse link
G PTGES2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,241,257...99,249,022
Ensembl chr 9:127,912,363...127,918,036 		JBrowse link
G PTPA protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,236,607...100,274,273
Ensembl chr 9:128,896,584...128,934,651 		JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,813,010...98,835,732
Ensembl chr 9:127,484,509...127,507,753 		JBrowse link
G QRFP pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,008,900...102,013,194
Ensembl chr 9:130,659,140...130,659,550 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,218,338...104,269,322
Ensembl chr 9:132,832,924...132,865,901 		JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,698,970...102,861,482
Ensembl chr 9:131,337,001...131,495,664 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413 		JBrowse link
G RNF208 ring finger protein 208 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,279,801...108,281,695
Ensembl chr 9:137,248,765...137,249,550 		JBrowse link
G RNF224 ring finger protein 224 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,287,236...108,289,186
Ensembl chr 9:137,255,866...137,257,947 		JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,471,317...104,474,619
Ensembl chr 9:133,082,079...133,085,340 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,122,658...108,132,397 JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655 		JBrowse link
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,806,876...99,819,825
Ensembl chr 9:128,473,806...128,484,563 		JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665 		JBrowse link
G SH2D3C SH2 domain containing 3C ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,858,018...98,899,661
Ensembl chr 9:127,530,733...127,571,016 		JBrowse link
G SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,131,458...100,151,869
Ensembl chr 9:128,791,948...128,806,578 		JBrowse link
G SLC25A25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,188,906...99,229,771
Ensembl chr 9:127,859,948...127,900,922 		JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,463,338...99,483,802
Ensembl chr 9:128,133,365...128,151,077 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,589,227...104,602,769
Ensembl chr 9:133,205,995...133,214,051 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,290,905...108,296,186
Ensembl chr 9:137,259,243...137,264,947 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228 		JBrowse link
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,994,592...104,006,390
Ensembl chr 9:132,625,393...132,636,686 		JBrowse link
G SPOUT1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,945,345...99,953,692
Ensembl chr 9:128,613,437...128,620,450 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971 		JBrowse link
G SSNA1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,248,263...108,250,002
Ensembl chr 9:137,217,653...137,219,406 		JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,027,846...99,037,025
Ensembl chr 9:127,699,013...127,708,515 		JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,005,336...99,025,296
Ensembl chr 9:127,677,841...127,697,880 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,499,706...104,528,872
Ensembl chr 9:133,111,802...133,140,430 		JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,310,511...108,314,233
Ensembl chr 9:137,278,844...137,282,670 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152 		JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,479,741...104,484,493
Ensembl chr 9:133,091,321...133,096,054 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,484,792...104,499,508
Ensembl chr 9:133,096,353...133,103,007 		JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,453,832...104,459,589
Ensembl chr 9:133,064,755...133,070,302 		JBrowse link
G SWI5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,396,439...99,410,054
Ensembl chr 9:128,064,569...128,078,380 		JBrowse link
G TBC1D13 TBC1 domain family member 13 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,910,685...99,933,856
Ensembl chr 9:128,576,246...128,597,979 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,849,421...107,851,438 JBrowse link
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,252,170...108,265,276
Ensembl chr 9:137,233,273...137,233,683 		JBrowse link
G TMEM210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,231,003...108,232,819
Ensembl chr 9:137,200,480...137,201,612 		JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292 		JBrowse link
G TOR1A torsin family 1 member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,940,554...100,951,726 JBrowse link
G TOR1B torsin family 1 member B ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,930,714...100,938,891
Ensembl chr 9:129,588,325...129,596,287 		JBrowse link
G TOR2A torsin family 2 member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,851,255...98,855,086
Ensembl chr 9:127,523,547...127,527,403 		JBrowse link
G TOR4A torsin family 4 member A ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,337,814...108,342,723
Ensembl chr 9:137,307,626...137,310,283 		JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,251,235...108,261,541 JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331 		JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,427,032...99,444,440
Ensembl chr 9:128,098,221...128,111,909 		JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759 		JBrowse link
G TTC16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:98,834,850...98,851,253
Ensembl chr 9:127,506,866...127,523,545 		JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:103,495,737...103,525,775
Ensembl chr 9:132,129,318...132,158,660 		JBrowse link
G TUBB4B tubulin beta 4B class IVb ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,300,868...108,303,321
Ensembl chr 9:137,268,942...137,271,758 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793 		JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046 		JBrowse link
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:102,646,056...102,653,525
Ensembl chr 9:131,285,877...131,293,338 		JBrowse link
G URM1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:99,492,453...99,513,046
Ensembl chr 9:128,160,984...128,179,700 		JBrowse link
G USP20 ubiquitin specific peptidase 20 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:100,962,851...101,009,326
Ensembl chr 9:129,621,642...129,666,713 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:104,883,197...105,115,143
Ensembl chr 9:133,494,481...133,668,036 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:105,241,415...105,265,925
Ensembl chr 9:133,848,185...133,872,889 		JBrowse link
G ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,844,535...99,847,806
Ensembl chr 9:128,510,739...128,514,004 		JBrowse link
G ZER1 zyg-11 related cell cycle regulator ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:99,853,433...99,895,399
Ensembl chr 9:128,519,972...128,560,098 		JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:108,682,634...108,696,671
Ensembl chr 9:137,630,101...137,642,871 		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: Primary coenzyme Q10 deficiency 8 OMIM
ClinVar		 PMID:25741868 PMID:26084283 PMID:28409910 PMID:28492532 PMID:30369941 More... NCBI chr16:19,229,649...19,242,131
Ensembl chr16:19,172,135...19,184,158 		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:25741868 PMID:29044765 NCBI chr12:118,085,605...118,112,591
Ensembl chr12:121,459,102...121,486,657 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    Pathological Conditions, Signs and Symptoms 12045
      Pathologic Processes 7439
        Muscle Weakness 276
          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 + 218
          myopathy with extrapyramidal signs 1
          nuclear type mitochondrial complex I deficiency 20 9
Path 2
Term Annotations click to browse term
  disease 15685
    disease of anatomical entity 15296
      nervous system disease 13321
        peripheral nervous system disease 4051
          neuropathy 3859
            neuromuscular disease 3033
              muscular disease 2124
                Muscle Weakness 276
                  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 + 218
                  myopathy with extrapyramidal signs 1
                  nuclear type mitochondrial complex I deficiency 20 9
paths to the root