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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;   OMIM:PS607426


show annotations for term's descendants           Sort by:
coenzyme Q10 deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP 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 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COQ8A coenzyme Q8A IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		JBrowse link
G COQ9 coenzyme Q9 ISS
IAGP		 OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary		 MouseDO
ClinVar		 NCBI chr16:57,447,479...57,461,270
Ensembl chr16:57,447,425...57,461,270 		JBrowse link
G LOC112469007 Sharpr-MPRA regulatory region 5957 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar NCBI chr16:57,447,297...57,447,591 JBrowse link
G LOC112997540 Sharpr-MPRA regulatory region 13773 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary ClinVar PMID:17420317 PMID:23758206 PMID:24988567 PMID:25548529 PMID:25594503 More... NCBI chr 4:83,284,501...83,284,930 JBrowse link
G LOC129932681 ATAC-STARR-seq lymphoblastoid silent region 1895 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ClinVar
G PDSS1 decaprenyl diphosphate synthase subunit 1 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary
ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary		 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:26,697,701...26,746,798
Ensembl chr10:26,697,701...26,746,798 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 ISS
IAGP		 OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary		 MouseDO
ClinVar		 NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564 		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 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 ClinVar NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP
EXP		 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:12682339 PMID:16116126 PMID:16400613 PMID:17332895 PMID:17374725 More... NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COQ8A coenzyme Q8A EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1		 CTD
ClinVar		 PMID:18319072 PMID:24033266 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		JBrowse link
G LOC112997540 Sharpr-MPRA regulatory region 13773 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 ClinVar PMID:17420317 PMID:23758206 PMID:24033266 PMID:24988567 PMID:24988568 More... NCBI chr 4:83,284,501...83,284,930 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 IAGP ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome ClinVar PMID:25741868 NCBI chr10:26,746,596...26,860,958
Ensembl chr10:26,746,593...26,861,087 		JBrowse link
G PDSS1 decaprenyl diphosphate synthase subunit 1 IAGP
EXP		 ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2 | ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17332895 PMID:22494076 PMID:25264263 PMID:25741868 PMID:28492532 More... NCBI chr10:26,697,701...26,746,798
Ensembl chr10:26,697,701...26,746,798 		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 IAGP
EXP		 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 | ClinVar Annotator: match by term: PDSS2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17186472 PMID:17374725 PMID:17576681 PMID:19096106 More... NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564 		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 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr 1:226,989,858...227,318,492
Ensembl chr 1:226,989,865...227,318,492 		JBrowse link
G COQ8A coenzyme Q8A IAGP
ISS
EXP		 ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9
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:612016
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 More... NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		JBrowse link
G LOC126806036 BRD4-independent group 4 enhancer GRCh37_chr1:227180293-227181492 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr 1:226,992,592...226,993,791 JBrowse link
G LOC129388764 MPRA-validated peak738 silencer IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873 NCBI chr 1:226,971,834...226,972,034 JBrowse link
G LOC129932681 ATAC-STARR-seq lymphoblastoid silent region 1895 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar
G LOC129932682 ATAC-STARR-seq lymphoblastoid silent region 1896 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar
G LOC129932683 ATAC-STARR-seq lymphoblastoid active region 2676 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 ClinVar PMID:24164873
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ9 coenzyme Q9 IAGP
EXP		 ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
ClinVar Annotator: match by term: COQ9-related condition | ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16199547 PMID:19375058 PMID:20495179 PMID:20689595 PMID:22490322 More... NCBI chr16:57,447,479...57,461,270
Ensembl chr16:57,447,425...57,461,270 		JBrowse link
G LOC112469007 Sharpr-MPRA regulatory region 5957 IAGP ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ClinVar PMID:28492532 NCBI chr16:57,447,297...57,447,591 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 IAGP
EXP		 ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21540551 PMID:24140869 PMID:25741868 PMID:28044327 PMID:28117207 More... NCBI chr14:73,949,926...73,963,670
Ensembl chr14:73,949,926...73,963,670 		JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) IAGP 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 chr14:73,955,329...74,019,288
Ensembl chr14:73,958,010...74,019,399 		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 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,007,234...137,028,922
Ensembl chr 9:137,007,234...137,028,915 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AIF1L allograft inflammatory factor 1 like IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:131,096,531...131,123,144
Ensembl chr 9:131,096,476...131,123,152 		JBrowse link
G AJM1 apical junction component 1 homolog IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,842,478...136,848,801
Ensembl chr 9:136,842,478...136,848,801 		JBrowse link
G AK1 adenylate kinase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675 		JBrowse link
G AK8 adenylate kinase 8 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,725,578...132,879,046
Ensembl chr 9:132,725,578...132,878,777 		JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520 		JBrowse link
G AL590627.1 forkhead box H1 (FOXH1) pseudogene IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,784,073...137,788,406
Ensembl chr 9:137,776,539...137,789,235 		JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,174,784...137,188,560
Ensembl chr 9:137,174,784...137,188,560 		JBrowse link
G ARRDC1 arrestin domain containing 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,605,686...137,615,360
Ensembl chr 9:137,605,685...137,615,360 		JBrowse link
G ASB6 ankyrin repeat and SOCS box containing 6 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,634,605...129,642,151
Ensembl chr 9:129,634,604...129,642,169 		JBrowse link
G ASS1 argininosuccinate synthase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274 		JBrowse link
G BARHL1 BarH like homeobox 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,582,606...132,590,252
Ensembl chr 9:132,582,606...132,590,252 		JBrowse link
G BBLN bublin coiled coil protein IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,160,265...128,163,924
Ensembl chr 9:128,160,265...128,163,924 		JBrowse link
G BRD3 bromodomain containing 3 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:134,030,305...134,068,548
Ensembl chr 9:134,030,305...134,068,535 		JBrowse link
G C8G complement C8 gamma chain IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,945,243...136,946,975
Ensembl chr 9:136,945,185...136,946,975 		JBrowse link
G C9orf163 chromosome 9 putative open reading frame 163 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,483,495...136,486,067
Ensembl chr 9:136,483,495...136,486,067 		JBrowse link
G C9orf50 chromosome 9 open reading frame 50 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,612,225...129,621,924
Ensembl chr 9:129,612,225...129,621,101 		JBrowse link
G C9orf78 chromosome 9 open reading frame 78 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,827,290...129,835,275
Ensembl chr 9:129,827,290...129,835,863 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,459,978...133,470,848
Ensembl chr 9:133,459,965...133,470,848 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546 		JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681 		JBrowse link
G CCDC183 coiled-coil domain containing 183 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,796,338...136,807,741
Ensembl chr 9:136,796,338...136,807,741 		JBrowse link
G CDK9 cyclin dependent kinase 9 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CERCAM cerebral endothelial cell adhesion molecule IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,419,160...128,437,351
Ensembl chr 9:128,411,751...128,437,351 		JBrowse link
G CFAP157 cilia and flagella associated protein 157 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,706,988...127,716,002
Ensembl chr 9:127,706,988...127,716,002 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,410,211...132,573,319
Ensembl chr 9:132,410,043...132,573,319 		JBrowse link
G CIMIP2A ciliary microtubule inner protein 2A IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,243,599...137,255,122
Ensembl chr 9:137,243,584...137,247,770 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G CLIC3 chloride intracellular channel 3 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,994,608...136,996,568
Ensembl chr 9:136,994,608...136,996,568 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COQ4 coenzyme Q4 IAGP
EXP		 ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22368301 PMID:25658047 More... NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G CRAT carnitine O-acetyltransferase IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,142...129,111,189 		JBrowse link
G CYSRT1 cysteine rich tail 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,225,174...137,226,315
Ensembl chr 9:137,225,174...137,226,315 		JBrowse link
G DBH dopamine beta-hydroxylase IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329 		JBrowse link
G DDX31 DEAD-box helicase 31 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,592,997...132,669,983
Ensembl chr 9:132,592,997...132,670,401 		JBrowse link
G DIPK1B divergent protein kinase domain 1B IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,712,572...136,724,742
Ensembl chr 9:136,712,572...136,724,742 		JBrowse link
G DNLZ DNL-type zinc finger IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,359,483...136,363,744
Ensembl chr 9:136,359,480...136,363,744 		JBrowse link
G DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DOLK dolichol kinase IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603 		JBrowse link
G DOLPP1 dolichyldiphosphatase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,081,111...129,090,438
Ensembl chr 9:129,081,111...129,090,438 		JBrowse link
G DPH7 diphthamide biosynthesis 7 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,554,444...137,578,925
Ensembl chr 9:137,554,444...137,578,925 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G DPP7 dipeptidyl peptidase 7 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,110,546...137,118,306
Ensembl chr 9:137,110,542...137,118,309 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G EDF1 endothelial differentiation related factor 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,862,119...136,866,308
Ensembl chr 9:136,862,119...136,866,308 		JBrowse link
G EEIG1 estrogen-induced osteoclastogenesis regulator 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,940,582...127,980,989
Ensembl chr 9:127,940,582...127,980,989 		JBrowse link
G EGFL7 EGF like domain multiple 7 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,658,856...136,672,678
Ensembl chr 9:136,658,856...136,672,678 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G ENDOG endonuclease G IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,818,500...128,822,676
Ensembl chr 9:128,818,500...128,822,676 		JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,048,107...137,054,061
Ensembl chr 9:137,048,107...137,054,061 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,434,364...137,441,357
Ensembl chr 9:137,434,364...137,441,816 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,401,922...136,410,614
Ensembl chr 9:136,401,922...136,410,614 		JBrowse link
G EXD3 exonuclease 3'-5' domain containing 3 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,306,896...137,423,162
Ensembl chr 9:137,306,896...137,423,211 		JBrowse link
G EXOSC2 exosome component 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G FAM163B family with sequence similarity 163 member B IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,577,081...133,609,389
Ensembl chr 9:133,577,081...133,609,389 		JBrowse link
G FAM78A family with sequence similarity 78 member A IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:131,258,078...131,281,045
Ensembl chr 9:131,258,076...131,277,365 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,940,435...136,944,738
Ensembl chr 9:136,940,435...136,944,738 		JBrowse link
G FCN1 ficolin 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:134,903,232...134,917,912
Ensembl chr 9:134,903,232...134,917,912 		JBrowse link
G FCN2 ficolin 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:134,864,144...134,887,523
Ensembl chr 9:134,880,810...134,887,523 		JBrowse link
G FIBCD1 fibrinogen C domain containing 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:130,902,440...130,940,709
Ensembl chr 9:130,902,438...130,939,286 		JBrowse link
G FNBP1 formin binding protein 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,887,187...130,053,879
Ensembl chr 9:129,887,187...130,043,189 		JBrowse link
G FPGS folylpolyglutamate synthase IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,802,858...127,814,506
Ensembl chr 9:127,794,597...127,814,327 		JBrowse link
G FUBP3 far upstream element binding protein 3 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:130,579,577...130,638,352
Ensembl chr 9:130,578,965...130,638,352 		JBrowse link
G FUT7 fucosyltransferase 7 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,030,174...137,032,088
Ensembl chr 9:137,030,174...137,032,088 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,152,948...133,163,914
Ensembl chr 9:133,152,948...133,163,933 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,623,648...135,641,216
Ensembl chr 9:135,623,648...135,639,540 		JBrowse link
G GOLGA2 golgin A2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026 		JBrowse link
G GPR107 G protein-coupled receptor 107 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:130,053,906...130,140,164
Ensembl chr 9:130,053,426...130,140,169 		JBrowse link
G GPSM1 G protein signaling modulator 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,327,539...136,359,601
Ensembl chr 9:136,327,476...136,359,605 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,670,035...132,694,955
Ensembl chr 9:132,670,035...132,694,953 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,030,708...133,058,503
Ensembl chr 9:133,030,675...133,058,503 		JBrowse link
G HMCN2 hemicentin 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:130,265,760...130,434,123
Ensembl chr 9:130,265,760...130,434,123 		JBrowse link
G IER5L immediate early response 5 like IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,175,552...129,178,261
Ensembl chr 9:129,175,552...129,178,261 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G KYAT1 kynurenine aminotransferase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,832,942...128,882,523
Ensembl chr 9:128,832,942...128,882,494
Ensembl chr 9:128,832,942...128,882,494 		JBrowse link
G LAMC3 laminin subunit gamma 3 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:131,009,174...131,094,473
Ensembl chr 9:131,009,174...131,094,473 		JBrowse link
G LCN1 lipocalin 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,521,440...135,526,540
Ensembl chr 9:135,521,438...135,526,540 		JBrowse link
G LCN10 lipocalin 10 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,738,170...136,742,940
Ensembl chr 9:136,738,167...136,743,356 		JBrowse link
G LCN12 lipocalin 12 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,949,197...136,956,538
Ensembl chr 9:136,949,551...136,955,497 		JBrowse link
G LCN15 lipocalin 15 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,759,634...136,764,518
Ensembl chr 9:136,759,634...136,766,255 		JBrowse link
G LCN2 lipocalin 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LCN6 lipocalin 6 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,744,017...136,748,525
Ensembl chr 9:136,744,017...136,748,525 		JBrowse link
G LCN8 lipocalin 8 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,754,386...136,758,543
Ensembl chr 9:136,754,386...136,758,543 		JBrowse link
G LCN9 lipocalin 9 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,663,309...135,666,961
Ensembl chr 9:135,663,309...135,666,961 		JBrowse link
G LCNL1 lipocalin like 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,982,993...136,985,758
Ensembl chr 9:136,981,904...136,986,410 		JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,343,249...135,346,562
Ensembl chr 9:135,343,249...135,346,562 		JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,027,464...137,037,955
Ensembl chr 9:137,027,464...137,037,957 		JBrowse link
G LINC02913 long intergenic non-protein coding RNA 2913 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,321,016...129,322,603
Ensembl chr 9:129,321,016...129,324,905 		JBrowse link
G LOC101929270 uncharacterized LOC101929270 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,528,611...128,552,413 JBrowse link
G LOC106783495 conserved acetylation island sequence 15 enhancer IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,980,006...127,980,137 JBrowse link
G LOC113839510 H3K4me1 hESC enhancer GRCh37_chr9:130504225-130504852 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,741,946...127,742,573 JBrowse link
G LOC113839511 Sharpr-MPRA regulatory region 7866 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,785,480...127,786,164 JBrowse link
G LOC113839512 Sharpr-MPRA regulatory region 2041 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,786,170...127,786,584 JBrowse link
G LOC113839513 Sharpr-MPRA regulatory region 6856 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,965,530...127,965,824 JBrowse link
G LOC113839514 Sharpr-MPRA regulatory region 5179 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,048,630...128,048,946 JBrowse link
G LOC113839515 Sharpr-MPRA regulatory region 4689 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,115,590...128,115,884 JBrowse link
G LOC113839516 H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:130980103-130981059 and GRCh37_chr9:130981060-130982015 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,217,824...128,219,736 JBrowse link
G LOC113839517 Sharpr-MPRA regulatory region 14380 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,307,250...128,307,544 JBrowse link
G LOC113839524 Sharpr-MPRA regulatory region 9551 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,495,830...128,496,124 JBrowse link
G LOC114827831 VISTA enhancer hs2342 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,661,222...127,662,040 JBrowse link
G LOC116216099 CRISPRi-validated cis-regulatory element chr9.2869 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,862,062...127,863,104 JBrowse link
G LOC116216100 CRISPRi-validated cis-regulatory element chr9.2942 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,142,126...128,142,299 JBrowse link
G LOC124310649 Sharpr-MPRA regulatory region 4407 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,864,970...127,865,287 JBrowse link
G LOC124310650 Sharpr-MPRA regulatory region 6524 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,867,473...127,868,004 JBrowse link
G LOC124310651 Sharpr-MPRA regulatory region 4771 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,087,310...128,087,604 JBrowse link
G LOC124310652 Sharpr-MPRA regulatory region 9989 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,204,010...128,204,304 JBrowse link
G LOC124310653 Sharpr-MPRA regulatory region 12606 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,306,070...128,306,364 JBrowse link
G LOC124310654 Sharpr-MPRA regulatory region 290 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,554,550...128,554,844 JBrowse link
G LOC126860771 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:130685680-130686879 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,923,401...127,924,600 JBrowse link
G LOC129390114 MPRA-validated peak7335 silencer IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,156,316...128,156,516 JBrowse link
G LOC130002651 ATAC-STARR-seq lymphoblastoid silent region 20307 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,611,998...127,612,587 JBrowse link
G LOC130002652 ATAC-STARR-seq lymphoblastoid active region 29044 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,650,711...127,650,840 JBrowse link
G LOC130002653 ATAC-STARR-seq lymphoblastoid active region 29045 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,715,304...127,715,363 JBrowse link
G LOC130002654 ATAC-STARR-seq lymphoblastoid active region 29046 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,715,434...127,715,813 JBrowse link
G LOC130002655 ATAC-STARR-seq lymphoblastoid active region 29047 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,715,864...127,715,923 JBrowse link
G LOC130002656 ATAC-STARR-seq lymphoblastoid silent region 20308 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,734,998...127,735,287 JBrowse link
G LOC130002657 ATAC-STARR-seq lymphoblastoid silent region 20309 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,771,261...127,771,750 JBrowse link
G LOC130002658 ATAC-STARR-seq lymphoblastoid active region 29049 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,777,739...127,777,828 JBrowse link
G LOC130002659 ATAC-STARR-seq lymphoblastoid active region 29050 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,779,074...127,779,423 JBrowse link
G LOC130002660 ATAC-STARR-seq lymphoblastoid active region 29052 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,784,840...127,785,059 JBrowse link
G LOC130002661 ATAC-STARR-seq lymphoblastoid silent region 20310 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,785,110...127,785,429 JBrowse link
G LOC130002662 ATAC-STARR-seq lymphoblastoid active region 29053 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,796,883...127,796,972 JBrowse link
G LOC130002663 ATAC-STARR-seq lymphoblastoid silent region 20313 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,802,719...127,803,118 JBrowse link
G LOC130002664 ATAC-STARR-seq lymphoblastoid active region 29056 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,866,807...127,866,866 JBrowse link
G LOC130002665 ATAC-STARR-seq lymphoblastoid silent region 20314 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,897,408...127,897,477 JBrowse link
G LOC130002666 ATAC-STARR-seq lymphoblastoid silent region 20315 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,899,550...127,899,779 JBrowse link
G LOC130002667 ATAC-STARR-seq lymphoblastoid silent region 20316 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,902,735...127,902,824 JBrowse link
G LOC130002668 ATAC-STARR-seq lymphoblastoid active region 29057 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,903,877...127,904,146 JBrowse link
G LOC130002669 ATAC-STARR-seq lymphoblastoid active region 29058 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,911,224...127,911,433 JBrowse link
G LOC130002670 ATAC-STARR-seq lymphoblastoid active region 29059 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,915,409...127,915,518 JBrowse link
G LOC130002671 ATAC-STARR-seq lymphoblastoid active region 29060 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,915,589...127,915,748 JBrowse link
G LOC130002672 ATAC-STARR-seq lymphoblastoid active region 29061 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,915,829...127,916,008 JBrowse link
G LOC130002673 ATAC-STARR-seq lymphoblastoid silent region 20317 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,916,931...127,917,290 JBrowse link
G LOC130002674 ATAC-STARR-seq lymphoblastoid silent region 20318 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,930,541...127,930,860 JBrowse link
G LOC130002675 ATAC-STARR-seq lymphoblastoid active region 29062 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,937,808...127,938,117 JBrowse link
G LOC130002676 ATAC-STARR-seq lymphoblastoid active region 29063 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,977,394...127,977,483 JBrowse link
G LOC130002677 ATAC-STARR-seq lymphoblastoid silent region 20319 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,980,486...127,981,295 JBrowse link
G LOC130002678 ATAC-STARR-seq lymphoblastoid active region 29064 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,983,825...127,983,974 JBrowse link
G LOC130002679 ATAC-STARR-seq lymphoblastoid active region 29065 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,007,630...128,007,869 JBrowse link
G LOC130002680 ATAC-STARR-seq lymphoblastoid active region 29066 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,008,170...128,008,229 JBrowse link
G LOC130002681 ATAC-STARR-seq lymphoblastoid active region 29067 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,028,732...128,028,901 JBrowse link
G LOC130002682 ATAC-STARR-seq lymphoblastoid silent region 20320 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,031,198...128,031,247 JBrowse link
G LOC130002683 ATAC-STARR-seq lymphoblastoid silent region 20321 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,031,288...128,031,387 JBrowse link
G LOC130002684 ATAC-STARR-seq lymphoblastoid active region 29068 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,035,137...128,035,236 JBrowse link
G LOC130002685 ATAC-STARR-seq lymphoblastoid active region 29069 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,067,179...128,067,508 JBrowse link
G LOC130002686 ATAC-STARR-seq lymphoblastoid silent region 20323 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,067,959...128,068,528 JBrowse link
G LOC130002687 ATAC-STARR-seq lymphoblastoid active region 29070 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,069,259...128,069,338 JBrowse link
G LOC130002688 ATAC-STARR-seq lymphoblastoid active region 29071 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,115,912...128,115,961 JBrowse link
G LOC130002689 ATAC-STARR-seq lymphoblastoid active region 29072 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,127,250...128,127,329 JBrowse link
G LOC130002690 ATAC-STARR-seq lymphoblastoid silent region 20324 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,127,470...128,127,759 JBrowse link
G LOC130002691 ATAC-STARR-seq lymphoblastoid active region 29073 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,127,970...128,128,089 JBrowse link
G LOC130002692 ATAC-STARR-seq lymphoblastoid silent region 20325 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,128,400...128,128,599 JBrowse link
G LOC130002693 ATAC-STARR-seq lymphoblastoid silent region 20326 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,128,630...128,128,739 JBrowse link
G LOC130002694 ATAC-STARR-seq lymphoblastoid silent region 20327 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,150,803...128,150,852 JBrowse link
G LOC130002695 ATAC-STARR-seq lymphoblastoid active region 29074 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,203,062...128,203,161 JBrowse link
G LOC130002696 ATAC-STARR-seq lymphoblastoid silent region 20331 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,203,222...128,203,441 JBrowse link
G LOC130002697 ATAC-STARR-seq lymphoblastoid active region 29075 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,249,987...128,250,126 JBrowse link
G LOC130002698 ATAC-STARR-seq lymphoblastoid silent region 20332 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,250,297...128,250,796 JBrowse link
G LOC130002699 ATAC-STARR-seq lymphoblastoid silent region 20333 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,250,807...128,250,896 JBrowse link
G LOC130002700 ATAC-STARR-seq lymphoblastoid active region 29076 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,275,471...128,275,520 JBrowse link
G LOC130002701 ATAC-STARR-seq lymphoblastoid silent region 20334 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,275,671...128,275,780 JBrowse link
G LOC130002702 ATAC-STARR-seq lymphoblastoid active region 29077 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,276,381...128,276,510 JBrowse link
G LOC130002703 ATAC-STARR-seq lymphoblastoid active region 29078 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,322,147...128,322,686 JBrowse link
G LOC130002704 ATAC-STARR-seq lymphoblastoid silent region 20335 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:25741868 PMID:28492532 PMID:31332438 More... NCBI chr 9:128,323,067...128,323,126 JBrowse link
G LOC130002705 ATAC-STARR-seq lymphoblastoid silent region 20337 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,340,654...128,341,053 JBrowse link
G LOC130002706 ATAC-STARR-seq lymphoblastoid active region 29079 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,341,690...128,341,869 JBrowse link
G LOC130002707 ATAC-STARR-seq lymphoblastoid active region 29080 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,371,473...128,371,572 JBrowse link
G LOC130002708 ATAC-STARR-seq lymphoblastoid silent region 20339 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,420,243...128,421,142 JBrowse link
G LOC130002709 ATAC-STARR-seq lymphoblastoid active region 29081 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,421,403...128,421,592 JBrowse link
G LOC130002710 ATAC-STARR-seq lymphoblastoid silent region 20344 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,504,530...128,504,739 JBrowse link
G LOC130002711 ATAC-STARR-seq lymphoblastoid active region 29084 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,504,960...128,505,119 JBrowse link
G LOC130002712 ATAC-STARR-seq lymphoblastoid silent region 20345 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,552,231...128,553,000 JBrowse link
G LOC130002713 ATAC-STARR-seq lymphoblastoid active region 29085 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,558,877...128,558,936 JBrowse link
G LRRC26 leucine rich repeat containing 26 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,168,758...137,170,051
Ensembl chr 9:137,168,758...137,170,051 		JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039 		JBrowse link
G MAMDC4 MAM domain containing 4 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,852,346...136,860,799
Ensembl chr 9:136,850,943...136,860,799 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189 		JBrowse link
G MED22 mediator complex subunit 22 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,338,312...133,348,131
Ensembl chr 9:133,338,312...133,348,131 		JBrowse link
G MED27 mediator complex subunit 27 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867 		JBrowse link
G MIGA2 mitoguardin 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,036,626...129,072,082
Ensembl chr 9:129,036,621...129,072,082 		JBrowse link
G MIR126 microRNA 126 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686 		JBrowse link
G MIR199B microRNA 199b IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,244,721...128,244,830
Ensembl chr 9:128,244,721...128,244,830 		JBrowse link
G MIR219A2 microRNA 219a-2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,392,618...128,392,714
Ensembl chr 9:128,392,618...128,392,714 		JBrowse link
G MIR219A2HG MIR219A2 host gene IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,392,011...128,393,501
Ensembl chr 9:128,392,007...128,393,510 		JBrowse link
G MIR219B microRNA 219b IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,392,621...128,392,708
Ensembl chr 9:128,392,621...128,392,708 		JBrowse link
G MIR2861 microRNA 2861 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,785,918...127,786,007
Ensembl chr 9:127,785,918...127,786,007 		JBrowse link
G MIR3154 microRNA 3154 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,244,947...128,245,030
Ensembl chr 9:128,244,947...128,245,030 		JBrowse link
G MIR3911 microRNA 3911 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,690,687...127,690,795
Ensembl chr 9:127,690,687...127,690,795 		JBrowse link
G MIR3960 microRNA 3960 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,785,833...127,785,923
Ensembl chr 9:127,785,833...127,785,923 		JBrowse link
G MIR4672 microRNA 4672 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,869,415...127,869,495
Ensembl chr 9:127,869,415...127,869,495 		JBrowse link
G MRPL41 mitochondrial ribosomal protein L41 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,551,879...137,552,555
Ensembl chr 9:137,551,879...137,552,555 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G NACC2 NACC family member 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,006,537...136,095,289
Ensembl chr 9:136,006,537...136,095,289 		JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,061,233...128,067,320
Ensembl chr 9:128,061,233...128,068,206 		JBrowse link
G NCS1 neuronal calcium sensor 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:130,172,404...130,237,303
Ensembl chr 9:130,172,404...130,237,303 		JBrowse link
G NDOR1 NADPH dependent diflavin oxidoreductase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,205,700...137,219,361
Ensembl chr 9:137,205,685...137,219,361 		JBrowse link
G NELFB negative elongation factor complex member B IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,255,327...137,273,542
Ensembl chr 9:137,255,327...137,273,542 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOXA1 NADPH oxidase activator 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,423,393...137,434,406
Ensembl chr 9:137,423,350...137,434,406 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,039,463...137,046,177
Ensembl chr 9:137,039,463...137,046,179 		JBrowse link
G NRARP NOTCH regulated ankyrin repeat protein IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,299,631...137,302,271
Ensembl chr 9:137,299,631...137,302,271 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,608,872...129,636,135
Ensembl chr 9:129,608,884...129,636,135 		JBrowse link
G NTNG2 netrin G2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526 		JBrowse link
G NUP188 nucleoporin 188 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096 		JBrowse link
G NUP214 nucleoporin 214 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663 		JBrowse link
G OBP2A odorant binding protein 2A IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,546,126...135,549,969
Ensembl chr 9:135,546,126...135,549,969 		JBrowse link
G OBP2B odorant binding protein 2B IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,205,279...133,223,255
Ensembl chr 9:133,205,277...133,209,250 		JBrowse link
G ODF2 outer dense fiber of sperm tails 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,455,185...128,501,292
Ensembl chr 9:128,455,186...128,501,292 		JBrowse link
G ODF2-AS1 ODF2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,468,925...128,473,012
Ensembl chr 9:128,468,957...128,473,012 		JBrowse link
G OLFM1 olfactomedin 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,075,505...135,121,184
Ensembl chr 9:135,075,422...135,121,180 		JBrowse link
G PAEP progestagen associated endometrial protein IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,561,756...135,566,955
Ensembl chr 9:135,561,756...135,566,955 		JBrowse link
G PAXX PAXX non-homologous end joining factor IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,992,422...136,993,976
Ensembl chr 9:136,992,422...136,993,984 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,849,409...136,851,024
Ensembl chr 9:136,848,724...136,851,027 		JBrowse link
G PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,920,982...128,942,041
Ensembl chr 9:128,920,966...128,942,041 		JBrowse link
G PIERCE1 piercer of microtubule wall 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,495,181...135,499,869
Ensembl chr 9:135,495,181...135,501,734 		JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,920,881...127,930,777
Ensembl chr 9:127,920,881...127,930,785 		JBrowse link
G PKN3 protein kinase N3 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,702,503...128,720,916
Ensembl chr 9:128,702,503...128,720,916 		JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:131,289,723...131,309,261
Ensembl chr 9:131,289,459...131,359,022 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G PNPLA7 patatin like phospholipase domain containing 7 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,459,952...137,550,402
Ensembl chr 9:137,459,952...137,550,402 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,479,066...135,488,892
Ensembl chr 9:135,479,079...135,488,893 		JBrowse link
G PRDM12 PR/SET domain 12 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:130,664,594...130,682,983
Ensembl chr 9:130,664,594...130,682,986 		JBrowse link
G PRRC2B proline rich coiled-coil 2B IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:131,373,651...131,500,193
Ensembl chr 9:131,373,636...131,500,197 		JBrowse link
G PRRX2 paired related homeobox 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,665,647...129,722,674
Ensembl chr 9:129,665,647...129,722,674 		JBrowse link
G PTGDS prostaglandin D2 synthase IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742 		JBrowse link
G PTGES prostaglandin E synthase IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042 		JBrowse link
G PTGES2 prostaglandin E synthase 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,120,693...128,128,440
Ensembl chr 9:128,120,693...128,128,462 		JBrowse link
G PTGES2-AS1 PTGES2 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,128,529...128,130,634
Ensembl chr 9:128,128,529...128,130,628 		JBrowse link
G PTPA protein phosphatase 2 phosphatase activator IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,110,950...129,148,946
Ensembl chr 9:129,110,950...129,148,946 		JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,694,150...127,715,676
Ensembl chr 9:127,690,348...127,724,873 		JBrowse link
G QRFP pyroglutamylated RFamide peptide IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:130,892,707...130,896,812
Ensembl chr 9:130,892,707...130,896,812 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,206,333...136,245,812
Ensembl chr 9:136,206,333...136,245,812 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,807,948...136,841,187
Ensembl chr 9:136,807,943...136,841,187 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,097,722...133,149,210
Ensembl chr 9:133,097,720...133,149,334 		JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:131,576,775...131,740,076
Ensembl chr 9:131,576,770...131,740,076 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,406,058...133,418,172
Ensembl chr 9:133,406,059...133,418,096 		JBrowse link
G RNF208 ring finger protein 208 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,220,259...137,223,408
Ensembl chr 9:137,220,247...137,222,240 		JBrowse link
G RNF224 ring finger protein 224 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,227,502...137,229,640
Ensembl chr 9:137,227,502...137,229,640 		JBrowse link
G RNU6ATAC RNA, U6atac small nuclear IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:134,164,440...134,164,564
Ensembl chr 9:134,164,439...134,164,564 		JBrowse link
G RPL7A ribosomal protein L7a IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,348,218...133,351,426
Ensembl chr 9:133,348,218...133,351,426 		JBrowse link
G RXRA retinoid X receptor alpha IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,062,127...137,070,557
Ensembl chr 9:137,062,127...137,070,557 		JBrowse link
G SARDH sarcosine dehydrogenase IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,659,418...133,739,955
Ensembl chr 9:133,663,560...133,739,955 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,440,105...136,484,740
Ensembl chr 9:136,440,096...136,483,759 		JBrowse link
G SET SET nuclear proto-oncogene IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400 		JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SH2D3C SH2 domain containing 3C IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,738,317...127,778,666
Ensembl chr 9:127,738,317...127,778,710 		JBrowse link
G SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,007,036...129,028,331
Ensembl chr 9:129,007,036...129,028,331 		JBrowse link
G SLC25A25 solute carrier family 25 member 25 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,068,232...128,109,245
Ensembl chr 9:128,068,201...128,109,245 		JBrowse link
G SLC25A25-AS1 SLC25A25 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,111,171...128,118,734
Ensembl chr 9:128,108,581...128,118,693 		JBrowse link
G SLC27A4 solute carrier family 27 member 4 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,471,094...133,479,099
Ensembl chr 9:133,471,094...133,479,127 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176 		JBrowse link
G SNHG7 small nucleolar RNA host gene 7 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,724,594...136,728,184
Ensembl chr 9:136,721,366...136,728,184 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPACA9 sperm acrosome associated 9 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,878,344...132,890,314
Ensembl chr 9:132,878,027...132,890,201 		JBrowse link
G SPOUT1 SPOUT domain containing methyltransferase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,819,651...128,829,794
Ensembl chr 9:128,819,651...128,829,794 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SSNA1 SS nuclear autoantigen 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,188,676...137,190,366
Ensembl chr 9:137,188,660...137,190,370 		JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,907,886...127,917,041
Ensembl chr 9:127,907,886...127,917,041 		JBrowse link
G ST6GALNAC4-ST6GALNAC6-AK1 ST6GALNAC4-ST6GALNAC6-AK1 readthrough IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,866,486...127,917,041 JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,885,321...127,906,616
Ensembl chr 9:127,885,321...127,905,408 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,376,366...133,406,096
Ensembl chr 9:133,376,366...133,406,096 		JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,251,286...137,253,483
Ensembl chr 9:137,251,261...137,253,483 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G SURF2 surfeit 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,356,550...133,361,158
Ensembl chr 9:133,356,550...133,361,158 		JBrowse link
G SURF4 surfeit 4 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,361,464...133,377,949
Ensembl chr 9:133,361,450...133,376,166 		JBrowse link
G SURF6 surfeit 6 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,328,776...133,336,188
Ensembl chr 9:133,328,776...133,336,188 		JBrowse link
G SWI5 SWI5 homologous recombination repair protein IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,275,356...128,288,989
Ensembl chr 9:128,275,379...128,316,123 		JBrowse link
G TBC1D13 TBC1 domain family member 13 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,787,253...128,810,430
Ensembl chr 9:128,787,253...128,810,430 		JBrowse link
G TMEM141 transmembrane protein 141 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,791,344...136,793,317
Ensembl chr 9:136,791,344...136,793,317 		JBrowse link
G TMEM203 transmembrane protein 203 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,204,082...137,205,648
Ensembl chr 9:137,204,082...137,205,648 		JBrowse link
G TMEM210 transmembrane protein 210 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,170,858...137,172,056
Ensembl chr 9:137,170,858...137,172,056 		JBrowse link
G TMEM250 transmembrane protein 250 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,107,767...136,118,875
Ensembl chr 9:136,114,581...136,118,875 		JBrowse link
G TOR1A torsin family 1 member A IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TOR1B torsin family 1 member B IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,803,184...129,811,281
Ensembl chr 9:129,803,157...129,811,281 		JBrowse link
G TOR2A torsin family 2 member A IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,731,524...127,735,294
Ensembl chr 9:127,731,524...127,735,313 		JBrowse link
G TOR4A torsin family 4 member A IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,277,726...137,282,641
Ensembl chr 9:137,277,726...137,282,641 		JBrowse link
G TPRN taperin IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193 		JBrowse link
G TRAF2 TNF receptor associated factor 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:136,881,958...136,926,607
Ensembl chr 9:136,881,912...136,926,607 		JBrowse link
G TRR-TCT3-1 tRNA-Arg (anticodon TCT) 3-1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,340,076...128,340,166 JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,305,159...128,322,447
Ensembl chr 9:128,305,159...128,322,447 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 ClinVar PMID:25741868 PMID:28215400 PMID:28492532 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TTC16 tetratricopeptide repeat domain 16 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,716,079...127,731,590
Ensembl chr 9:127,716,079...127,731,590 		JBrowse link
G TTF1 transcription termination factor 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:132,375,548...132,406,840
Ensembl chr 9:132,375,548...132,406,851 		JBrowse link
G TUBB4B tubulin beta 4B class IVb IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,241,287...137,243,707
Ensembl chr 9:137,241,287...137,243,707 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,077,517...137,084,538
Ensembl chr 9:137,077,517...137,084,539 		JBrowse link
G UBAC1 UBA domain containing 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:135,932,969...135,961,373
Ensembl chr 9:135,932,969...135,961,373 		JBrowse link
G UCK1 uridine-cytidine kinase 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:131,523,801...131,531,263
Ensembl chr 9:131,523,801...131,531,264 		JBrowse link
G URM1 ubiquitin related modifier 1 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,371,319...128,392,016
Ensembl chr 9:128,371,361...128,392,016 		JBrowse link
G USP20 ubiquitin specific peptidase 20 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:129,835,458...129,881,828
Ensembl chr 9:129,834,698...129,881,828 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:133,761,894...133,992,324
Ensembl chr 9:133,761,894...133,992,604 		JBrowse link
G WDR5 WD repeat domain 5 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:134,135,199...134,159,968
Ensembl chr 9:134,135,365...134,159,968 		JBrowse link
G ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,720,873...128,724,127
Ensembl chr 9:128,720,870...128,724,127 		JBrowse link
G ZER1 zyg-11 related cell cycle regulator IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:128,729,786...128,772,486
Ensembl chr 9:128,729,786...128,772,414 		JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 IAGP ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ClinVar PMID:28492532 NCBI chr 9:137,582,081...137,590,512
Ensembl chr 9:137,582,081...137,590,512 		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 IAGP
EXP		 ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26084283 PMID:28409910 PMID:28492532 PMID:30369941 More... NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095 		JBrowse link
G COQ7-DT COQ7 divergent transcript IAGP ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8 ClinVar PMID:25741868 PMID:28492532 PMID:36454683 PMID:37077559 PMID:37392700 NCBI chr16:19,062,754...19,067,691
Ensembl chr16:19,062,144...19,067,691 		JBrowse link
G LOC130058587 ATAC-STARR-seq lymphoblastoid silent region 7240 IAGP ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8 ClinVar PMID:25741868 PMID:28492532 PMID:36454683 PMID:37077559 PMID:37392700 NCBI chr16:19,067,638...19,067,797 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 IAGP ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9 OMIM
ClinVar		 PMID:25741868 PMID:29044765 NCBI chr12:120,503,279...120,529,158
Ensembl chr12:120,503,279...120,534,434 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Pathologic Processes 13181
        Muscle Weakness 396
          coenzyme Q10 deficiency disease 336
            primary coenzyme Q10 deficiency 1 4
            primary coenzyme Q10 deficiency 2 2
            primary coenzyme Q10 deficiency 3 1
            primary coenzyme Q10 deficiency 4 7
            primary coenzyme Q10 deficiency 5 2
            primary coenzyme Q10 deficiency 6 2
            primary coenzyme Q10 deficiency 7 315
            primary coenzyme Q10 deficiency 8 3
            primary coenzyme Q10 deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            movement disease 3274
              Dyskinesias 2681
                Ataxia 1296
                  coenzyme Q10 deficiency disease 336
                    primary coenzyme Q10 deficiency 1 4
                    primary coenzyme Q10 deficiency 2 2
                    primary coenzyme Q10 deficiency 3 1
                    primary coenzyme Q10 deficiency 4 7
                    primary coenzyme Q10 deficiency 5 2
                    primary coenzyme Q10 deficiency 6 2
                    primary coenzyme Q10 deficiency 7 315
                    primary coenzyme Q10 deficiency 8 3
                    primary coenzyme Q10 deficiency 9 1
paths to the root