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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:coenzyme Q10 deficiency disease
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Accession:DOID:0050730 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. (DO)
Synonyms:exact_synonym: CoQ Deficiency;   coenzyme Q deficiency;   primary CoQ10 deficiency;   primary coenzyme Q10 deficiency;   ubiquinone deficiency
 narrow_synonym: COENZYME Q10 DEFICIENCY, OCULOMOTOR APRAXIA TYPE;   COENZYME Q10 DEFICIENCY, SPINOCEREBELLAR ATAXIA TYPE
 primary_id: MESH:C564403
 xref: GARD:10423;   MIM:PS607426

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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 chrNW_004624736:37,729,624...37,757,780
Ensembl chrNW_004624736:37,730,072...37,749,174 		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 chrNW_004624900:272,440...288,090
Ensembl chrNW_004624900:272,404...288,675 		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 chrNW_004624771:12,274,812...12,315,007
Ensembl chrNW_004624771:12,274,812...12,316,587 		JBrowse link
G Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chrNW_004624746:28,614,589...28,630,774
Ensembl chrNW_004624746:28,615,215...28,630,667 		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 chrNW_004624796:2,431,383...2,466,044
Ensembl chrNW_004624796:2,431,648...2,466,029 		JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chrNW_004624780:14,803,750...15,130,156
Ensembl chrNW_004624780:14,804,030...15,129,497 		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 chrNW_004624736:37,729,624...37,757,780
Ensembl chrNW_004624736:37,730,072...37,749,174 		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 chrNW_004624900:272,440...288,090
Ensembl chrNW_004624900:272,404...288,675 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 ClinVar PMID:24033266 NCBI chrNW_004624771:12,274,812...12,315,007
Ensembl chrNW_004624771:12,274,812...12,316,587 		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 chrNW_004624796:2,312,005...2,431,284 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:25741868 PMID:28492532 More... NCBI chrNW_004624796:2,431,383...2,466,044
Ensembl chrNW_004624796:2,431,648...2,466,029 		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 chrNW_004624780:14,803,750...15,130,156
Ensembl chrNW_004624780:14,804,030...15,129,497 		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 chrNW_004624771:12,314,566...12,591,071
Ensembl chrNW_004624771:12,314,570...12,591,015 		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 chrNW_004624771:12,274,812...12,315,007
Ensembl chrNW_004624771:12,274,812...12,316,587 		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 chrNW_004624746:28,614,589...28,630,774
Ensembl chrNW_004624746:28,615,215...28,630,667 		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 chrNW_004624734:27,610,144...27,625,670
Ensembl chrNW_004624734:27,610,248...27,626,298 		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 chrNW_004624734:27,568,738...27,610,046
Ensembl chrNW_004624734:27,570,815...27,610,766 		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 chrNW_004624760:880,216...898,753
Ensembl chrNW_004624760:880,148...898,751 		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 chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		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 chrNW_004624760:1,865,474...1,889,394
Ensembl chrNW_004624760:1,865,376...1,889,203 		JBrowse link
G Adamtsl2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,948,302...1,977,459
Ensembl chrNW_004624760:1,949,907...1,976,894 		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 chrNW_004624760:1,746,642...1,755,154
Ensembl chrNW_004624760:1,747,081...1,755,113 		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 chrNW_004624760:4,739,886...4,757,291
Ensembl chrNW_004624760:4,739,793...4,757,280 		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 chrNW_004624760:1,002,860...1,008,527
Ensembl chrNW_004624760:1,001,590...1,007,530 		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 chrNW_004624760:7,684,098...7,693,051
Ensembl chrNW_004624760:7,684,109...7,693,405 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:3,545,491...3,666,266
Ensembl chrNW_004624760:3,545,403...3,660,658 		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 chrNW_004624760:760,815...772,116
Ensembl chrNW_004624760:760,749...772,855 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:464,914...475,070
Ensembl chrNW_004624760:468,069...475,070 		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 chrNW_004624760:5,699,522...5,704,172
Ensembl chrNW_004624760:5,699,433...5,703,672 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,180,095...5,221,677
Ensembl chrNW_004624760:5,180,095...5,221,732 		JBrowse link
G Barhl1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:3,765,938...3,772,347
Ensembl chrNW_004624760:3,765,714...3,772,315 		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 chrNW_004624760:6,672,541...6,676,186
Ensembl chrNW_004624760:6,672,541...6,676,216 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:2,220,019...2,247,322
Ensembl chrNW_004624760:2,221,472...2,247,388 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:937,871...939,655
Ensembl chrNW_004624760:937,871...939,466 		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 chrNW_004624760:1,889,793...1,897,703
Ensembl chrNW_004624760:1,889,949...1,897,703 		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 chrNW_004624760:78,754...257,901
Ensembl chrNW_004624760:81,236...257,787 		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 chrNW_004624760:1,220,036...1,267,345
Ensembl chrNW_004624760:1,179,756...1,267,285 		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 chrNW_004624760:1,533,247...1,542,529
Ensembl chrNW_004624760:1,533,390...1,540,162 		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 chrNW_004624760:1,029,318...1,038,375
Ensembl chrNW_004624760:1,029,257...1,037,821 		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 chrNW_004624760:7,760,474...7,765,711 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 chrNW_004624760:6,472,584...6,482,719
Ensembl chrNW_004624760:6,473,249...6,483,755 		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 chrNW_004624760:7,821,511...7,829,481
Ensembl chrNW_004624760:7,821,616...7,829,425 		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 chrNW_004624760:3,780,678...3,890,265
Ensembl chrNW_004624760:3,779,492...3,890,851 		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 chrNW_004624760:710,923...715,126
Ensembl chrNW_004624760:711,349...715,024 		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 chrNW_004624760:6,653,710...6,672,357
Ensembl chrNW_004624760:6,654,659...6,672,237 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:911,124...912,922
Ensembl chrNW_004624760:911,145...912,951 		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 chrNW_004624760:2,593,923...2,713,772
Ensembl chrNW_004624760:2,593,961...2,713,772 		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 chrNW_004624760:6,545,040...6,557,291
Ensembl chrNW_004624760:6,548,228...6,557,212 		JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:6,002,032...6,013,489
Ensembl chrNW_004624760:6,002,568...6,013,491 		JBrowse link
G CUNH9orf50 chromosome unknown C9orf50 homolog ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,715,984...5,721,324 JBrowse link
G CUNH9orf78 chromosome unknown C9orf78 homolog ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,594,633...5,599,662 JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:730,245...731,559
Ensembl chrNW_004624760:730,492...731,379 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:2,016,066...2,030,240
Ensembl chrNW_004624760:2,015,474...2,029,939 		JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:3,692,248...3,763,887
Ensembl chrNW_004624760:3,692,548...3,765,645 		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 chrNW_004624760:1,763,424...1,769,277
Ensembl chrNW_004624760:1,763,440...1,770,253 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,531,439...1,533,176
Ensembl chrNW_004624760:1,531,439...1,533,170 		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 chrNW_004624760:6,605,902...6,646,575
Ensembl chrNW_004624760:6,604,787...6,646,622 		JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:6,106,890...6,108,939
Ensembl chrNW_004624760:6,107,162...6,108,778 		JBrowse link
G Dolpp1 dolichyldiphosphatase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:6,015,484...6,023,293
Ensembl chrNW_004624760:6,015,299...6,023,283 		JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:504,173...515,747 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 chrNW_004624760:7,638,497...7,640,810
Ensembl chrNW_004624760:7,638,437...7,640,810 		JBrowse link
G Dpp7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:825,992...829,670
Ensembl chrNW_004624760:826,218...830,636 		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 chrNW_004624760:6,321,195...6,331,784
Ensembl chrNW_004624760:6,321,172...6,331,532 		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 chrNW_004624760:986,820...990,019
Ensembl chrNW_004624760:986,822...990,019 		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 chrNW_004624760:7,601,507...7,636,446
Ensembl chrNW_004624760:7,601,860...7,634,014 		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 chrNW_004624760:1,737,001...1,746,496
Ensembl chrNW_004624760:1,738,942...1,746,226 		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 chrNW_004624760:271,397...463,462
Ensembl chrNW_004624760:272,493...379,780 		JBrowse link
G Endog endonuclease G ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:6,193,168...6,196,209
Ensembl chrNW_004624760:6,193,173...6,196,374 		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 chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:859,598...865,194
Ensembl chrNW_004624760:859,637...866,804 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:597,580...603,523
Ensembl chrNW_004624760:599,156...603,520 		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 chrNW_004624760:1,562,213...1,568,630
Ensembl chrNW_004624760:1,562,033...1,568,550 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,036,185...5,044,504
Ensembl chrNW_004624760:5,035,663...5,044,549 		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 chrNW_004624760:1,978,667...2,002,131
Ensembl chrNW_004624760:1,978,293...2,001,410 		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 chrNW_004624760:4,621,149...4,639,175
Ensembl chrNW_004624760:4,623,937...4,639,240 		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 chrNW_004624760:939,896...943,636
Ensembl chrNW_004624760:940,256...943,644 		JBrowse link
G Fcn1 ficolin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:2,743,996...2,751,116
Ensembl chrNW_004624760:2,743,996...2,751,110 		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 chrNW_004624760:4,845,036...4,867,509
Ensembl chrNW_004624760:4,845,086...4,867,220 		JBrowse link
G Fnbp1 formin binding protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,479,154...5,563,903
Ensembl chrNW_004624760:5,513,533...5,558,071 		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 chrNW_004624760:7,735,606...7,754,750
Ensembl chrNW_004624760:7,735,613...7,754,994 		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 chrNW_004624760:5,078,698...5,122,905 JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:876,048...877,984
Ensembl chrNW_004624760:876,059...877,574 		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 chrNW_004624760:3,332,538...3,336,964 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 chrNW_004624760:3,446,028...3,454,818
Ensembl chrNW_004624760:3,446,028...3,454,818 		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 chrNW_004624760:6,398,959...6,427,881
Ensembl chrNW_004624760:6,400,263...6,427,780 		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 chrNW_004624760:6,588,351...6,605,518 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 chrNW_004624760:5,430,389...5,478,675
Ensembl chrNW_004624760:5,428,585...5,478,661 		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 chrNW_004624760:1,507,255...1,529,170
Ensembl chrNW_004624760:1,507,242...1,529,163 		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 chrNW_004624760:777,208...800,525
Ensembl chrNW_004624760:776,873...801,354 		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 chrNW_004624760:3,666,442...3,692,077
Ensembl chrNW_004624760:3,673,769...3,692,407 		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 chrNW_004624760:3,402,718...3,415,925
Ensembl chrNW_004624760:3,400,224...3,415,929 		JBrowse link
G Hmcn2 hemicentin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,229,200...5,356,655
Ensembl chrNW_004624760:5,229,490...5,356,655 		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 chrNW_004624760:5,953,687...5,956,362
Ensembl chrNW_004624760:5,953,868...5,955,073 		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 chrNW_004624760:1,586,003...1,594,869
Ensembl chrNW_004624760:1,586,848...1,594,835 		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 chrNW_004624760:1,167,489...1,209,155
Ensembl chrNW_004624760:1,167,641...1,209,802 		JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:4,759,680...4,807,720
Ensembl chrNW_004624760:4,760,351...4,807,720 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,070,637...1,074,260 JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,047,585...1,050,735 JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,066,532...1,070,083 JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,052,765...1,055,559 JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,143,457...1,145,561 JBrowse link
G Lcnl1 lipocalin like 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:917,617...920,100 JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,428,496...1,435,414
Ensembl chrNW_004624760:1,429,384...1,435,414 		JBrowse link
G LOC101710326 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,815,215...1,819,014
Ensembl chrNW_004624760:1,815,224...1,818,991 		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 chrNW_004624760:774,137...777,095 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 chrNW_004624760:6,122,626...6,148,033
Ensembl chrNW_004624760:6,122,626...6,147,076 		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 chrNW_004624760:813,657...826,020
Ensembl chrNW_004624760:813,045...825,153 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,805,806...1,811,514
Ensembl chrNW_004624760:1,805,806...1,811,532 		JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:4,137,897...4,324,173
Ensembl chrNW_004624760:4,137,858...4,324,266 		JBrowse link
G Miga2 mitoguardin 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:6,028,403...6,045,158
Ensembl chrNW_004624760:6,028,404...6,045,137 		JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:517,200...518,805
Ensembl chrNW_004624760:517,200...518,884 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:3,112,670...3,115,621 JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,934,223...1,941,176
Ensembl chrNW_004624760:1,934,699...1,941,149 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,319,092...1,386,692
Ensembl chrNW_004624760:1,318,993...1,349,810 		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 chrNW_004624760:7,550,943...7,556,943
Ensembl chrNW_004624760:7,551,081...7,557,680 		JBrowse link
G Ncs1 neuronal calcium sensor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,374,211...5,410,550
Ensembl chrNW_004624760:5,376,634...5,410,473 		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 chrNW_004624760:738,110...746,417
Ensembl chrNW_004624760:737,583...746,357 		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 chrNW_004624760:692,735...703,571
Ensembl chrNW_004624760:692,735...705,328 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:602,403...610,775
Ensembl chrNW_004624760:603,528...610,942 		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 chrNW_004624760:866,358...871,572
Ensembl chrNW_004624760:866,570...871,305 		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 chrNW_004624760:670,796...672,679
Ensembl chrNW_004624760:670,837...671,181 		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 chrNW_004624760:575,805...583,410
Ensembl chrNW_004624760:574,920...583,410 		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 chrNW_004624760:5,704,334...5,712,790
Ensembl chrNW_004624760:5,704,334...5,713,415 		JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:4,016,441...4,067,325
Ensembl chrNW_004624760:4,016,441...4,067,126 		JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:6,061,130...6,120,597
Ensembl chrNW_004624760:6,111,621...6,118,084
Ensembl chrNW_004624760:6,111,621...6,118,084 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:4,655,347...4,738,811
Ensembl chrNW_004624760:4,655,247...4,739,298 		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 chrNW_004624760:6,430,584...6,462,584
Ensembl chrNW_004624760:6,430,604...6,462,671 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:2,842,177...2,876,966
Ensembl chrNW_004624760:2,842,340...2,876,958 		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 chrNW_004624760:912,953...914,793
Ensembl chrNW_004624760:913,574...914,708 		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 chrNW_004624760:3,095,656...3,112,545
Ensembl chrNW_004624760:3,109,127...3,112,526 		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 chrNW_004624760:7,642,551...7,650,321
Ensembl chrNW_004624760:7,642,577...7,651,083 		JBrowse link
G Pkn3 protein kinase N3 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:6,276,714...6,286,861
Ensembl chrNW_004624760:6,277,005...6,285,744 		JBrowse link
G Plpp7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:4,606,693...4,619,852
Ensembl chrNW_004624760:4,606,409...4,619,912 		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 chrNW_004624760:1,568,655...1,576,273
Ensembl chrNW_004624760:1,568,710...1,575,867 		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 chrNW_004624760:521,145...575,431 JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:4,494,701...4,508,735
Ensembl chrNW_004624760:4,495,254...4,508,616 		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 chrNW_004624760:3,090,014...3,099,163
Ensembl chrNW_004624760:3,094,025...3,097,699 		JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,048,760...5,063,504
Ensembl chrNW_004624760:5,049,666...5,063,161 		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 chrNW_004624760:4,512,387...4,579,759
Ensembl chrNW_004624760:4,514,584...4,579,768 		JBrowse link
G Prrx2 paired related homeobox 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,656,456...5,684,383
Ensembl chrNW_004624760:5,656,521...5,692,934 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:920,292...923,174
Ensembl chrNW_004624760:920,877...923,283 		JBrowse link
G Ptges prostaglandin E synthase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,643,549...5,653,747
Ensembl chrNW_004624760:5,643,501...5,654,475 		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 chrNW_004624760:7,501,902...7,506,221
Ensembl chrNW_004624760:7,501,939...7,507,093 		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 chrNW_004624760:5,974,881...6,001,975
Ensembl chrNW_004624760:5,974,881...6,001,979 		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 chrNW_004624760:7,819,765...7,823,011
Ensembl chrNW_004624760:7,819,816...7,821,412 		JBrowse link
G Qrfp pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:4,873,578...4,874,921 JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,436,169...1,459,522
Ensembl chrNW_004624760:1,435,969...1,459,578 		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 chrNW_004624760:1,008,723...1,029,070
Ensembl chrNW_004624760:1,009,270...1,028,929 		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 chrNW_004624760:3,338,398...3,376,631
Ensembl chrNW_004624760:3,338,424...3,376,864 		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 chrNW_004624760:4,376,733...4,474,834
Ensembl chrNW_004624760:4,376,713...4,474,837 		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 chrNW_004624760:1,851,008...1,861,370
Ensembl chrNW_004624760:1,851,877...1,859,387 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:733,711...735,605
Ensembl chrNW_004624760:734,629...735,435 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:726,458...728,605 JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,811,442...1,815,144
Ensembl chrNW_004624760:1,811,544...1,815,144 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:2,379,809...2,455,749
Ensembl chrNW_004624760:2,380,708...2,456,928 		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 chrNW_004624760:843,746...848,104
Ensembl chrNW_004624760:843,760...847,327 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:2,030,835...2,070,517
Ensembl chrNW_004624760:2,032,326...2,066,584 		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 chrNW_004624760:1,595,021...1,628,985
Ensembl chrNW_004624760:1,594,899...1,629,409 		JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:6,293,452...6,304,237 JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:3,932,213...4,007,290
Ensembl chrNW_004624760:3,955,494...4,007,610 		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 chrNW_004624760:7,771,646...7,800,487
Ensembl chrNW_004624760:7,771,456...7,800,464 		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 chrNW_004624760:6,047,388...6,060,425
Ensembl chrNW_004624760:6,047,411...6,060,425 		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 chrNW_004624760:7,516,910...7,550,897
Ensembl chrNW_004624760:7,515,764...7,550,810 		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 chrNW_004624760:6,529,028...6,542,067
Ensembl chrNW_004624760:6,529,027...6,542,149 		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 chrNW_004624760:1,897,960...1,903,484
Ensembl chrNW_004624760:1,898,427...1,903,445 		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 chrNW_004624760:720,539...725,940
Ensembl chrNW_004624760:720,472...725,551 		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 chrNW_004624760:1,542,979...1,561,164
Ensembl chrNW_004624760:1,543,498...1,561,178 		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 chrNW_004624760:1,154,848...1,159,341 JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:3,537,547...3,546,027
Ensembl chrNW_004624760:3,537,550...3,545,456 		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 chrNW_004624760:6,186,779...6,193,519
Ensembl chrNW_004624760:6,186,901...6,196,374 		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 chrNW_004624760:6,331,554...6,388,953
Ensembl chrNW_004624760:6,331,554...6,386,216 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:759,471...760,797
Ensembl chrNW_004624760:759,469...760,797 		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 chrNW_004624760:7,652,907...7,660,858
Ensembl chrNW_004624760:7,652,881...7,662,382 		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 chrNW_004624760:7,666,798...7,678,926
Ensembl chrNW_004624760:7,667,189...7,677,662 		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 chrNW_004624760:1,833,797...1,851,379
Ensembl chrNW_004624760:1,835,478...1,850,864 		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 chrNW_004624760:703,733...707,880
Ensembl chrNW_004624760:705,486...706,898 		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 chrNW_004624760:7,843,741...7,914,444
Ensembl chrNW_004624760:7,842,640...7,914,484 		JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,819,028...1,822,179
Ensembl chrNW_004624760:1,819,049...1,822,161 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,823,688...1,833,438
Ensembl chrNW_004624760:1,822,052...1,833,426 		JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,799,764...1,804,194
Ensembl chrNW_004624760:1,797,740...1,804,231 		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 chrNW_004624760:6,581,471...6,588,294
Ensembl chrNW_004624760:6,581,575...6,588,233 		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 chrNW_004624760:6,209,802...6,224,203
Ensembl chrNW_004624760:6,209,542...6,224,172 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,038,579...1,040,250
Ensembl chrNW_004624760:1,038,579...1,040,239 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:746,451...747,960
Ensembl chrNW_004624760:746,671...747,081 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,383,478...1,386,722 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 chrNW_004624760:5,602,011...5,606,784
Ensembl chrNW_004624760:5,601,943...5,606,162 		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 chrNW_004624760:5,615,971...5,620,790
Ensembl chrNW_004624760:5,613,974...5,620,891 		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 chrNW_004624760:7,802,202...7,806,235
Ensembl chrNW_004624760:7,802,300...7,806,239 		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 chrNW_004624760:686,754...692,557
Ensembl chrNW_004624760:686,768...690,397 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:750,833...758,329
Ensembl chrNW_004624760:750,871...758,433 		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 chrNW_004624760:952,574...973,511
Ensembl chrNW_004624760:952,574...965,661 		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 chrNW_004624760:6,557,298...6,566,838
Ensembl chrNW_004624760:6,557,400...6,565,233 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:3,479,028...3,536,612
Ensembl chrNW_004624760:3,498,692...3,532,011 		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 chrNW_004624760:7,806,341...7,822,119 JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:3,893,665...3,918,237 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 chrNW_004624760:715,013...717,462
Ensembl chrNW_004624760:712,987...717,951 		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 chrNW_004624760:834,605...839,983
Ensembl chrNW_004624760:834,606...839,970 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:1,278,395...1,294,403
Ensembl chrNW_004624760:1,278,286...1,294,482 		JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:4,490,118...4,494,707
Ensembl chrNW_004624760:4,490,086...4,494,924 		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 chrNW_004624760:6,503,882...6,520,807
Ensembl chrNW_004624760:6,503,882...6,520,671 		JBrowse link
G Usp20 ubiquitin specific peptidase 20 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:5,568,763...5,594,519
Ensembl chrNW_004624760:5,568,761...5,594,510 		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 chrNW_004624760:2,081,796...2,201,520
Ensembl chrNW_004624760:2,081,796...2,201,934 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chrNW_004624760:2,275,660...2,291,796
Ensembl chrNW_004624760:2,274,813...2,292,379 		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 chrNW_004624760:6,273,989...6,276,788
Ensembl chrNW_004624760:6,273,994...6,276,776 		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 chrNW_004624760:6,247,016...6,270,621
Ensembl chrNW_004624760:6,247,052...6,270,621 		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 chrNW_004624760:495,430...501,645
Ensembl chrNW_004624760:494,771...503,301 		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 chrNW_004624782:2,682,489...2,689,662
Ensembl chrNW_004624782:2,682,486...2,689,661 		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 chrNW_004624747:13,145,380...13,165,169
Ensembl chrNW_004624747:13,145,343...13,168,246 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    Pathological Conditions, Signs and Symptoms 11236
      Pathologic Processes 7054
        Muscle Weakness 262
          coenzyme Q10 deficiency disease 202
            primary coenzyme Q10 deficiency 1 3
            primary coenzyme Q10 deficiency 2 2
            primary coenzyme Q10 deficiency 3 1
            primary coenzyme Q10 deficiency 4 2
            primary coenzyme Q10 deficiency 5 1
            primary coenzyme Q10 deficiency 6 2
            primary coenzyme Q10 deficiency 7 190
            primary coenzyme Q10 deficiency 8 1
            primary coenzyme Q10 deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12254
        central nervous system disease 10972
          brain disease 10297
            movement disease 2376
              Dyskinesias 2030
                Ataxia 867
                  coenzyme Q10 deficiency disease 202
                    primary coenzyme Q10 deficiency 1 3
                    primary coenzyme Q10 deficiency 2 2
                    primary coenzyme Q10 deficiency 3 1
                    primary coenzyme Q10 deficiency 4 2
                    primary coenzyme Q10 deficiency 5 1
                    primary coenzyme Q10 deficiency 6 2
                    primary coenzyme Q10 deficiency 7 190
                    primary coenzyme Q10 deficiency 8 1
                    primary coenzyme Q10 deficiency 9 1
paths to the root