Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:ophthalmoplegia
go back to main search page
Accession:DOID:539 term browser browse the term
Definition:Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.
Synonyms:exact_synonym: External Ophthalmoplegia;   External Ophthalmoplegias;   Internal Ophthalmoplegia;   Internal Ophthalmoplegias;   Oculomotor Paralysis;   Ophthalmopareses;   Ophthalmoparesis;   Ophthalmoplegias;   Total ophthalmoplegia
 narrow_synonym: OPHTHALMOPLEGIA, ISOLATED
 primary_id: MESH:D009886;   RDO:0000720
 xref: ICD9CM:378.56;   NCI:C79697
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGME1 mitochondrial genome maintenance exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313956 NCBI chr17:26,381,561...26,395,201
Ensembl chr17:26,369,875...26,395,192
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: External ophthalmoplegia ClinVar NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr 6:108,403,126...108,450,486
Ensembl chr 6:108,402,879...108,450,990
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy OMIM
ClinVar
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,979...98,322,055
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 OMIM
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:2067633 PMID:2725645 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:25741868 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM
ClinVar
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 OMIM
ClinVar
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:15668446 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr12:14,612,177...14,637,946
Ensembl chr12:14,612,183...14,636,811
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 OMIM
ClinVar
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 More... NCBI chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,570
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 OMIM
ClinVar
PMID:19664747 PMID:21646632 PMID:24741716 PMID:26467025 PMID:28492532 More... NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy OMIM
ClinVar
PMID:23352259 PMID:25741868 PMID:28492532 NCBI chr14:71,550,405...71,607,067
Ensembl chr14:71,552,121...71,610,740
JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 OMIM
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNASEH1 ribonuclease H1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 OMIM
ClinVar
PMID:25741868 PMID:26094573 PMID:28492532 NCBI chr 3:131,268,908...131,277,072
Ensembl chr 3:131,268,926...131,281,930
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 OMIM
ClinVar
PMID:12655576 PMID:12682338 PMID:15907288 PMID:18819985 PMID:19265691 More... NCBI chr 6:27,226,421...27,255,645
Ensembl chr 6:27,226,425...27,255,574
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DGUOK deoxyguanosine kinase ISO ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 4 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 OMIM
ClinVar
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 More... NCBI chr 3:69,054,749...69,091,366
Ensembl chr 3:69,054,761...69,091,341
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29290614 NCBI chr12:60,443,592...60,468,968
Ensembl chr12:60,443,677...60,468,964
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MILR1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr12:14,612,177...14,637,946
Ensembl chr12:14,612,183...14,636,811
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
RGD
CTD
PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 More... RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,570
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar PMID:21646632 PMID:21951382 PMID:24741716 PMID:28492532 NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778
JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
JBrowse link
G TWNK twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
RGD
ClinVar
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More... RGD:1600544 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
JBrowse link
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF21A kinesin family member 21A ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL ClinVar PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 More... NCBI chr 5:70,888,999...71,029,832
Ensembl chr 5:70,889,000...71,029,809
JBrowse link
G TUBA1A tubulin alpha 1a ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,185,532...15,190,428
JBrowse link
congenital fibrosis of the extraocular muscles 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF21A kinesin family member 21A ISO ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b OMIM
ClinVar
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... NCBI chr 5:70,888,999...71,029,832
Ensembl chr 5:70,889,000...71,029,809
JBrowse link
congenital fibrosis of the extraocular muscles 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHOX2A paired like homeobox 2A ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 OMIM
ClinVar
PMID:11600883 NCBI chr 9:6,808,144...6,831,636
Ensembl chr 9:6,807,623...6,812,578
JBrowse link
congenital fibrosis of the extraocular muscles 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL25A1 collagen type XXV alpha 1 chain ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 OMIM
ClinVar
PMID:25500261 NCBI chr 8:112,866,597...113,335,765
Ensembl chr 8:112,867,664...113,334,097
JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome OMIM
ClinVar
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More... NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096
JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More... NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096
JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 ISO ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders OMIM
ClinVar
PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190
JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736
JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755
JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZC4H2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome OMIM
ClinVar
PMID:1915520 PMID:2018061 PMID:4039531 PMID:23623388 PMID:25741868 More... NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980
JBrowse link
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGME1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11 OMIM
ClinVar
PMID:23313956 PMID:25741868 PMID:28097321 PMID:28492532 PMID:28711739 NCBI chr17:26,381,561...26,395,201
Ensembl chr17:26,369,875...26,395,192
JBrowse link
multiminicore disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 PMID:30770808 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy OMIM
ClinVar
PMID:16940 PMID:18253 PMID:1743490 PMID:7299413 PMID:9497245 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr15:84,226,953...84,501,320 JBrowse link
OCULOMOTOR-ABDUCENS SYNKINESIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Oculomotor-abducens synkinesis OMIM
ClinVar
PMID:31211835 NCBI chr15:136,370,457...136,382,559
Ensembl chr15:136,370,530...136,382,553
JBrowse link
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYF5 myogenic factor 5 ISO ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies OMIM
ClinVar
PMID:10844060 PMID:25741868 PMID:29887215 NCBI chr 5:100,753,440...100,755,558
Ensembl chr 5:100,752,890...100,755,494
JBrowse link
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12872260 PMID:28812649 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
JBrowse link
progressive supranuclear palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 3:57,423,894...57,506,247
Ensembl chr 3:57,423,943...57,506,245
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr12:10,891,445...11,018,617
Ensembl chr12:10,894,966...11,018,641
JBrowse link
G MAPT microtubule associated protein tau onset ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia OMIM
ClinVar
RGD
PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 More... RGD:8158099 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373
JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:24,138,078...24,186,838 JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr13:66,038,669...66,045,478 JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr12:4,800,578...4,803,767
Ensembl chr12:4,800,624...4,801,675
JBrowse link
G STX6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 9:122,533,737...122,580,631
Ensembl chr 9:122,529,727...122,580,608
JBrowse link
G TARDBP TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,860...71,227,704
JBrowse link
G TRA2B transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr13:123,760,008...123,780,919
Ensembl chr13:123,754,864...123,780,920
JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPT microtubule associated protein tau ISO OMIM NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373
JBrowse link
proximal myopathy and ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974
JBrowse link
G GAS7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,752,436...54,974,535
Ensembl chr12:54,752,507...54,973,515
JBrowse link
G GLP2R glucagon like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,680,047...54,747,338
Ensembl chr12:54,680,057...54,738,102
JBrowse link
G MYH1 myosin, heavy chain 1, skeletal muscle, adult ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,225,581...55,251,495
Ensembl chr12:55,225,590...55,249,340
JBrowse link
G MYH13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,051,990...55,103,415
Ensembl chr12:55,046,888...55,103,400
JBrowse link
G MYH2 myosin, heavy chain 2, skeletal muscle, adult ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia OMIM
ClinVar
PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr12:55,252,974...55,278,820 JBrowse link
G MYH4 myosin, heavy chain 4, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,190,545...55,216,294
Ensembl chr12:55,190,433...55,212,813
JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,748
JBrowse link
G RCVRN recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,740,642...54,752,291
Ensembl chr12:54,740,644...54,750,716
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634
JBrowse link
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Ataxia with Dysarthria ClinVar PMID:31047799
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis OMIM
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr13:45,620,372...45,968,295
Ensembl chr13:45,620,368...45,968,152
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:15668446 PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZC3H12B zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:51,231,526...51,749,627
Ensembl chr  X:51,502,732...51,749,625
JBrowse link
G ZC4H2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar
PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14396
    sensory system disease 5859
      eye disease 2718
        ocular motility disease 159
          ophthalmoplegia 64
            ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
            Adenine Nucleotide Translocator Deficiency 0
            CANOMAD Syndrome 0
            External Ophthalmoplegia and Myopia 0
            External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 0
            Familial Static Ophthalmoplegia 0
            Hamano Tsukamoto Syndrome 0
            IVIC syndrome 1
            Miles-Carpenter syndrome + 2
            Motor Neuron Disease with Dementia and Ophthalmoplegia 0
            OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 1
            Ocular Myopathy with Curare Sensitivity 0
            Ophthalmoplegia Totalis with Ptosis and Miosis 0
            Ophthalmoplegia, Familial Total, with Iris Transillumination 0
            Ophthalmoplegic Migraine 0
            Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 0
            Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 0
            Progressive External Ophthalmoplegia with Hypogonadism 0
            Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 0
            Schimke X-Linked Mental Retardation Syndrome 0
            Treft Sanborn Carey Syndrome 0
            chronic progressive external ophthalmoplegia + 26
            congenital fibrosis of the extraocular muscles + 5
            distal arthrogryposis type 5 1
            exophthalmic ophthalmoplegia 0
            internuclear ophthalmoplegia 0
            mitochondrial DNA depletion syndrome 11 1
            multiminicore disease 3
            progressive supranuclear palsy + 10
            proximal myopathy and ophthalmoplegia 10
            sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5
Path 2
Term Annotations click to browse term
  disease 14396
    disease of anatomical entity 14114
      nervous system disease 11989
        peripheral nervous system disease 2864
          neuropathy 2677
            cranial nerve disease 509
              ocular motility disease 159
                ophthalmoplegia 64
                  ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
                  Adenine Nucleotide Translocator Deficiency 0
                  CANOMAD Syndrome 0
                  External Ophthalmoplegia and Myopia 0
                  External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 0
                  Familial Static Ophthalmoplegia 0
                  Hamano Tsukamoto Syndrome 0
                  IVIC syndrome 1
                  Miles-Carpenter syndrome + 2
                  Motor Neuron Disease with Dementia and Ophthalmoplegia 0
                  OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 1
                  Ocular Myopathy with Curare Sensitivity 0
                  Ophthalmoplegia Totalis with Ptosis and Miosis 0
                  Ophthalmoplegia, Familial Total, with Iris Transillumination 0
                  Ophthalmoplegic Migraine 0
                  Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 0
                  Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 0
                  Progressive External Ophthalmoplegia with Hypogonadism 0
                  Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 0
                  Schimke X-Linked Mental Retardation Syndrome 0
                  Treft Sanborn Carey Syndrome 0
                  chronic progressive external ophthalmoplegia + 26
                  congenital fibrosis of the extraocular muscles + 5
                  distal arthrogryposis type 5 1
                  exophthalmic ophthalmoplegia 0
                  internuclear ophthalmoplegia 0
                  mitochondrial DNA depletion syndrome 11 1
                  multiminicore disease 3
                  progressive supranuclear palsy + 10
                  proximal myopathy and ophthalmoplegia 10
                  sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5
paths to the root