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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:ophthalmoplegia
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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.



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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 chr20:17,928,751...17,950,907
Ensembl chr20:17,907,241...17,929,214
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
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 chr14:55,633,667...55,678,670
Ensembl chr14:74,478,387...74,522,320
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 with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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 chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549
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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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 chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193
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 chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503
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 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056
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 chr10:64,898,024...64,956,541
Ensembl chr10:67,207,261...67,264,257
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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr2A:3,550,303...3,578,161
Ensembl chr2A:3,482,772...3,496,978
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 chr16:46,793,679...46,868,508
Ensembl chr16:65,928,102...65,970,315
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 with mitochondrial DNA deletions, autosomal recessive 4 OMIM
ClinVar
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 More... NCBI chr2A:74,000,969...74,032,993
Ensembl chr2A:75,510,768...75,542,563
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 chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135
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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
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 chr17:58,546,046...58,570,679
Ensembl chr17:63,638,549...63,663,193
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
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)
CTD
RGD
PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 More... RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr17:58,574,442...58,593,915
Ensembl chr17:63,667,246...63,686,503
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 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056
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 chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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 chr12:49,260,728...49,410,599
Ensembl chr12:50,120,004...50,267,664
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 chr12:49,260,728...49,410,599
Ensembl chr12:50,120,004...50,267,664
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 chr11:67,317,747...67,322,850 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 4:101,311,291...101,808,618
Ensembl chr 4:111,886,313...112,378,062
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 chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928
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 chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356
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 chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356
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 chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
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 chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589
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 chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
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:54,043,329...54,162,351
Ensembl chr  X:64,121,109...64,182,331
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 chr20:17,928,751...17,950,907
Ensembl chr20:17,907,241...17,929,214
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 chr 3:177,948,040...178,012,705 JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore 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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr2B:65,783,512...66,064,618 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 chr2B:123,795,664...123,810,067
Ensembl chr2B:242,666,173...242,667,261
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 chr12:78,236,945...78,239,701
Ensembl chr12:81,347,324...81,350,389
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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 chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr17:63,342,720...63,483,926
Ensembl chr17:68,730,011...68,870,454
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 chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 3:39,372,102...39,450,066
Ensembl chr 3:39,688,104...39,699,486
JBrowse link
G NAT2 N-acetyltransferase 2 ISO RGD PMID:22424094 RGD:8552652 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr17:70,809,931...70,813,191
Ensembl chr17:76,375,957...76,379,759
JBrowse link
G STX6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 1:156,450,202...156,500,143
Ensembl chr 1:160,117,825...160,167,314
JBrowse link
G TARDBP TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 1:9,775,084...9,786,710
Ensembl chr 1:10,996,006...11,008,732
JBrowse link
G TRA2B transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr 3:182,942,623...182,963,938
Ensembl chr 3:191,414,777...191,436,103
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 chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
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 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648
JBrowse link
G GAS7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,454,100...41,743,777
Ensembl chr17:46,200,364...46,480,618
JBrowse link
G GLP2R glucagon like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,764,686...41,830,966
Ensembl chr17:46,508,568...46,574,695
JBrowse link
G LOC103786029 myosin-4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,183,808...41,209,774
Ensembl chr17:45,931,196...45,957,149
JBrowse link
G MYH1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,134,861...41,161,226
Ensembl chr17:45,882,261...45,908,467
JBrowse link
G MYH13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,288,536...41,351,827
Ensembl chr17:46,035,614...46,098,800
JBrowse link
G MYH2 myosin heavy chain 2 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 chr17:41,103,730...41,132,264
Ensembl chr17:45,851,160...45,879,666
JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,231,081...41,262,671
Ensembl chr17:45,978,472...46,010,038
JBrowse link
G RCVRN recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,747,255...41,759,074
Ensembl chr17:46,490,605...46,502,962
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 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
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 NCBI chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776
JBrowse link
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 chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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 chr 3:63,995,566...64,347,679
Ensembl chr 3:65,377,760...65,723,662
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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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:54,162,659...54,623,859
Ensembl chr  X:64,563,916...64,699,055
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:54,043,329...54,162,351
Ensembl chr  X:64,121,109...64,182,331
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14631
    sensory system disease 5932
      eye disease 2746
        ocular motility disease 151
          ophthalmoplegia 56
            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 + 19
            congenital fibrosis of the extraocular muscles + 4
            distal arthrogryposis type 5 1
            exophthalmic ophthalmoplegia 0
            internuclear ophthalmoplegia 0
            mitochondrial DNA depletion syndrome 11 1
            multiminicore disease 3
            progressive supranuclear palsy + 11
            proximal myopathy and ophthalmoplegia 10
            sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5
Path 2
Term Annotations click to browse term
  disease 14631
    disease of anatomical entity 14345
      nervous system disease 12175
        peripheral nervous system disease 2861
          neuropathy 2674
            cranial nerve disease 504
              ocular motility disease 151
                ophthalmoplegia 56
                  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 + 19
                  congenital fibrosis of the extraocular muscles + 4
                  distal arthrogryposis type 5 1
                  exophthalmic ophthalmoplegia 0
                  internuclear ophthalmoplegia 0
                  mitochondrial DNA depletion syndrome 11 1
                  multiminicore disease 3
                  progressive supranuclear palsy + 11
                  proximal myopathy and ophthalmoplegia 10
                  sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5
paths to the root