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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:ocular motility disease
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Accession:DOID:1279 term browser browse the term
Definition:Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
Synonyms:exact_synonym: Convergence Excess;   Convergence Excesses;   Convergence Insufficiencies;   Convergence Insufficiency;   Cyclophoria;   Cyclophorias;   Eye Motility Disorder;   Eye Motility Disorders;   Eye Movement Disorder;   Eye Movement Disorders;   Ocular Motility Disorder;   Ocular Motility Disorders;   Ocular Torticollis;   Opsoclonus;   Parinaud Syndrome;   Parinaud's Syndrome;   Parinauds Syndrome;   Paroxysmal Ocular Dyskinesia;   Paroxysmal Ocular Dyskinesias;   Pseudoophthalmoplegia;   Pseudoophthalmoplegias;   Skew Deviation;   Skew Deviations;   Smooth Pursuit Deficiencies;   conjugate gaze spasm;   conjugate gaze spasms;   disorder of eye movements;   smooth pursuit deficiency;   spasm of conjugate gaze
 primary_id: MESH:D015835
 xref: EFO:1001990;   GARD:7061;   GARD:7237;   ICD9CM:378.9
For additional species annotation, visit the Alliance of Genome Resources.

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ocular motility disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLB klotho beta ISO ClinVar Annotator: match by term: Ocular motility disease ClinVar PMID:25741868 NCBI chr27:10,860,301...10,933,480
Ensembl chr27:10,861,760...10,903,400 		JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLEC11 collectin subfamily member 11 ISO ClinVar Annotator: match by term: 3MC syndrome 2 OMIM
ClinVar		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr14:104,002,207...104,057,372
Ensembl chr14:104,002,211...104,057,174 		JBrowse link
G MASP1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr15:81,488,306...81,563,302
Ensembl chr15:81,488,099...81,563,679 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr23:52,565,322...52,598,237
Ensembl chr23:52,565,409...52,592,657 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4M1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr28:12,971,007...12,976,914
Ensembl chr28:12,971,297...12,976,779 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:26374271 PMID:29619239 PMID:30006060 PMID:30426380 More... NCBI chr 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080 		JBrowse link
G TAF6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome OMIM
ClinVar		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr28:12,958,555...12,971,100
Ensembl chr28:12,963,609...12,973,368 		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 chr24:52,297,211...52,342,359
Ensembl chr24:52,296,261...52,342,724 		JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 ISO ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome OMIM
ClinVar		 PMID:16155570 PMID:18412118 PMID:25741868 PMID:28492532 NCBI chr21:31,272,410...31,275,503
Ensembl chr21:31,272,889...31,275,551 		JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome ClinVar PMID:25741868 NCBI chr21:31,261,992...31,271,071
Ensembl chr21:31,266,459...31,268,221 		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:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552 		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:1858914 PMID:2067633 PMID:2725645 PMID:11431686 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		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:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		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, AUTOSOMAL DOMINANT 2 | 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 7:131,102,077...131,106,076 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, AUTOSOMAL DOMINANT 3 | 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:12707443 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		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:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr16:56,799,089...56,827,030
Ensembl chr16:56,809,159...56,826,567 		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:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr16:56,773,867...56,794,571
Ensembl chr16:56,776,330...56,794,654 		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, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 OMIM
ClinVar		 PMID:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 More... NCBI chr 8:97,055,111...97,091,980 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 PMID:31478350 NCBI chr 9:62,926,221...62,985,843
Ensembl chr 9:62,926,674...62,985,842 		JBrowse link
autosomal recessive congenital nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35348658 NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219 		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 Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552 		JBrowse link
G LOC103246803 mismatch repair endonuclease PMS2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 More... NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		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 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 OMIM
ClinVar		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		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 PMID:28508084 NCBI chr14:104,095,771...104,111,051
Ensembl chr14:104,095,795...104,114,987 		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, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 OMIM
ClinVar		 PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 More... NCBI chr 5:52,202,040...52,272,428
Ensembl chr 5:52,204,605...52,243,017 		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:9536098 PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 More... NCBI chr14:33,320,957...33,356,088
Ensembl chr14:33,320,969...33,356,093 		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, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 OMIM
ClinVar		 PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:36544354 More... NCBI chr16:17,315,466...17,358,863
Ensembl chr16:17,316,048...17,358,580 		JBrowse link
Autosomal Recessive 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 RRM1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder OMIM
ClinVar		 PMID:25741868 NCBI chr 1:62,606,112...62,649,979
Ensembl chr 1:62,604,486...62,650,200 		JBrowse link
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAGLA diacylglycerol lipase alpha ISO OMIM NCBI chr 1:12,110,100...12,175,935
Ensembl chr 1:12,108,810...12,136,105 		JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348 		JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348 		JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPB2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chr15:51,165,275...51,197,971 JBrowse link
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome OMIM
ClinVar		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 More... NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532 		JBrowse link
BROWN SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 NCBI chr24:22,078,938...22,195,923
Ensembl chr24:22,078,158...22,195,917 		JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 NCBI chr 6:6,104,265...6,111,966
Ensembl chr 6:6,094,130...6,111,762 		JBrowse link
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRAT carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY ClinVar PMID:25741868 PMID:28492532 PMID:31448845 NCBI chr12:9,057,365...9,072,692
Ensembl chr12:9,058,824...9,072,813 		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:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		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 chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,318,533...111,425,759
Ensembl chr  X:111,318,763...111,425,617 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,672,701...111,793,597
Ensembl chr  X:111,672,713...111,792,856 		JBrowse link
G BRS3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,488,422...111,496,637
Ensembl chr  X:111,489,165...111,493,375 		JBrowse link
G CD40LG CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 More... NCBI chr  X:16,955,540...17,101,513 JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,160,389...111,226,713
Ensembl chr  X:111,211,911...111,226,841 		JBrowse link
G GPR101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:112,057,904...112,063,298
Ensembl chr  X:112,058,791...112,060,323 		JBrowse link
G HIVEP2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr13:30,476,938...30,501,708
Ensembl chr13:30,477,205...30,500,066 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,498,102...111,513,959
Ensembl chr  X:111,498,634...111,514,749 		JBrowse link
G MAP7D3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,232,087...111,266,950
Ensembl chr  X:111,232,072...111,266,863 		JBrowse link
G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,880,859...111,892,660 JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chr  X:17,089,382...17,105,145
Ensembl chr  X:17,089,598...17,118,447 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type OMIM
ClinVar		 PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chr  X:110,997,985...111,060,164
Ensembl chr  X:110,998,281...111,060,252 		JBrowse link
G VGLL1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,531,915...111,558,753 JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:112,597,329...112,609,411
Ensembl chr  X:112,598,466...112,601,803 		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 chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		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 chr16:56,799,089...56,827,030
Ensembl chr16:56,809,159...56,826,567 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
DNA:mutations:cds:
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(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 chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		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 chr16:56,773,867...56,794,571
Ensembl chr16:56,776,330...56,794,654 		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:23107649 PMID:24741716 PMID:25741868 More... NCBI chr 8:97,055,111...97,091,980 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 7:131,102,077...131,106,076 JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		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 chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		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 CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190 		JBrowse link
G FGF21 fibroblast growth factor 21 ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 6:42,006,125...42,008,749
Ensembl chr 6:42,006,064...42,008,736 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637 		JBrowse link
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 chr11:35,552,583...35,709,117
Ensembl chr11:35,552,398...35,709,070 		JBrowse link
G LOC103238260 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr11:45,365,071...45,368,807
Ensembl chr11:45,364,873...45,368,752 		JBrowse link
G LOC103238261 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633 		JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 2:89,852,450...89,900,002
Ensembl chr 2:89,852,447...89,890,054 		JBrowse link
G MYH10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr16:7,837,527...7,989,687
Ensembl chr16:7,835,843...7,989,788 		JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr20:7,185,208...7,193,964
Ensembl chr20:7,185,390...7,193,983 		JBrowse link
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr17:41,728,103...41,733,206
Ensembl chr17:41,729,143...41,733,243 		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 | ClinVar Annotator: match by term: KIF21A-related condition OMIM
ClinVar		 PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... NCBI chr11:35,552,583...35,709,117
Ensembl chr11:35,552,398...35,709,070 		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 PMID:25741868 NCBI chr 1:63,459,031...63,464,674
Ensembl chr 1:63,459,719...63,463,894 		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 PMID:25741868 PMID:31875546 NCBI chr 7:56,730,456...57,229,587 JBrowse link
congenital myopathy 1B 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 chr15:8,420,789...8,486,681
Ensembl chr15:8,421,654...8,486,384 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | 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 ClinVar
OMIM		 PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr  X:128,207,636...128,212,624
Ensembl chr  X:128,207,989...128,212,410 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205 		JBrowse link
congenital myopathy 6 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:26740942 More... NCBI chr12:45,537,817...45,544,038
Ensembl chr12:45,538,303...45,543,766 		JBrowse link
G GAS7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr16:9,256,305...9,546,996
Ensembl chr16:9,258,438...9,385,235 		JBrowse link
G GLP2R glucagon like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr16:9,161,241...9,228,965
Ensembl chr16:9,162,107...9,227,581 		JBrowse link
G LOC103242383 myosin-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 chr16:9,863,336...9,891,271 JBrowse link
G LOC103242386 myosin-8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr16:9,733,585...9,765,740
Ensembl chr16:9,733,717...9,763,255 		JBrowse link
G MYH1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr16:9,834,434...9,860,744 JBrowse link
G MYH13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr16:9,647,080...9,726,679
Ensembl chr16:9,647,777...9,709,659 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr16:9,966,801...9,999,458
Ensembl chr16:9,966,922...9,994,402 		JBrowse link
G MYH4 myosin heavy chain 4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr16:9,786,143...9,811,908
Ensembl chr16:9,786,240...9,809,098 		JBrowse link
G RCVRN recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr16:9,236,647...9,246,994
Ensembl chr16:9,237,001...9,246,490 		JBrowse link
G SCO1 SCO1, cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr16:10,021,480...10,036,920 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:26740942 More... NCBI chr12:45,545,139...45,560,702
Ensembl chr12:45,545,507...45,563,380 		JBrowse link
congenital nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism
OMIM:164100 | OMIM:193003 | OMIM:300589 | OMIM:300814 | OMIM:608345 | OMIM:614826		 CTD
MouseDO		 PMID:23301081 NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478 		JBrowse link
G ATF6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr20:2,112,819...2,304,063
Ensembl chr20:2,117,982...2,304,027 		JBrowse link
G MYO7A myosin VIIA ISO associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human) RGD PMID:21901789 RGD:11537385 NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G PAX6 paired box 6 ISO DNA:snp:intron:IVS4+5G>C (human) RGD PMID:15629294 RGD:8552281 NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Congenital nystagmus ClinVar PMID:25741868 PMID:28492532 PMID:35348658 NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32971638 NCBI chr20:64,662,777...64,684,178
Ensembl chr20:64,664,358...64,683,211 		JBrowse link
congenital nystagmus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRMD7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked OMIM
ClinVar		 PMID:16020310 PMID:17013395 PMID:17768376 PMID:17893669 PMID:17962394 More... NCBI chr  X:107,231,960...107,285,880
Ensembl chr  X:107,235,289...107,285,416 		JBrowse link
congenital nystagmus 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked OMIM
ClinVar		 PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 More... NCBI chr  X:8,178,818...8,223,291
Ensembl chr  X:8,179,154...8,222,603 		JBrowse link
Congenital Nystagmus 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO1 roundabout guidance receptor 1 ISO OMIM NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219 		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 with oculomotor limitation and electroretinal abnormalities | 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 chr18:70,161,961...70,623,912
Ensembl chr18:70,246,132...70,622,611 		JBrowse link
Duane retraction syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTR1B actin related protein 1B ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr14:1,342,290...1,350,496
Ensembl chr14:1,342,100...1,350,197 		JBrowse link
G CHN1 chimerin 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar NCBI chr10:60,334,829...60,540,309
Ensembl chr10:60,331,214...60,488,785 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 More... NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626 		JBrowse link
G CUX1 cut like homeobox 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr28:10,901,529...11,370,834
Ensembl chr28:10,937,512...11,370,702 		JBrowse link
G FER FER tyrosine kinase ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr23:12,252,135...12,629,584
Ensembl chr23:12,192,800...12,620,443 		JBrowse link
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348 		JBrowse link
G KIF5C kinesin family member 5C ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr10:34,285,048...34,441,918
Ensembl chr10:34,285,037...34,444,863 		JBrowse link
G LOC103243509 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192 		JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism
OMIM:126800 | OMIM:604356		 CTD
MouseDO		 NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO DNA:frameshift mutation:cds:p.M640IfsX25 (human)
DNA:nonsense mutation:cds:p.R905X (human)
DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)
DNA:duplication:cds:c.410dupG (human)
DNA:snps, deletions, insertion:multiple (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12393809 PMID:12395297 PMID:16402211 PMID:16411190 PMID:17216607 More... RGD:11532205 RGD:11556210 RGD:11556211 RGD:11556215 RGD:11556231 RGD:11556232 NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321 		JBrowse link
Duane Retraction Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane syndrome type 1 ClinVar PMID:27181683 NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684 		JBrowse link
Duane Retraction Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHN1 chimerin 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome 2 OMIM
ClinVar		 PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 More... NCBI chr10:60,334,829...60,540,309
Ensembl chr10:60,331,214...60,488,785 		JBrowse link
Duane Retraction Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness OMIM
ClinVar		 PMID:27181683 NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684 		JBrowse link
episodic ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,488,572...10,493,508
Ensembl chr 6:10,488,460...10,491,519 		JBrowse link
G ANGPTL8 angiopoietin like 8 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,169,733...10,172,433
Ensembl chr 6:10,170,052...10,173,005 		JBrowse link
G BEST2 bestrophin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,438,981...11,447,952
Ensembl chr 6:11,441,380...11,448,629 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy
ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia with nystagmus | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy		 OMIM
ClinVar		 PMID:1849839 PMID:8734765 PMID:8898206 PMID:9005860 PMID:9329229 More... NCBI chr 6:11,883,353...12,307,023 JBrowse link
G CALR calreticulin ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792 		JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:9,866,715...9,915,655
Ensembl chr 6:9,866,534...9,914,682 		JBrowse link
G CCDC159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,280,282...10,289,141
Ensembl chr 6:10,282,605...10,289,625 		JBrowse link
G CNN1 calponin 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,461,140...10,470,813 JBrowse link
G CUNH19orf38 chromosome unknown C19orf38 homolog ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:9,855,101...9,865,266 JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,648,881...11,652,815
Ensembl chr 6:11,649,331...11,652,567 		JBrowse link
G DHPS deoxyhypusine synthase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,364,192...11,370,485
Ensembl chr 6:11,362,752...11,370,370 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,557,034...11,570,117
Ensembl chr 6:11,553,904...11,570,244 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:9,718,014...9,830,061
Ensembl chr 6:9,718,244...9,831,206 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,133,688...10,191,995 JBrowse link
G ECSIT ECSIT signaling integrator ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,430,333...10,440,047
Ensembl chr 6:10,430,446...10,439,830 		JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,378,651...10,405,198 JBrowse link
G ELOF1 elongation factor 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,473,519...10,479,856
Ensembl chr 6:10,474,208...10,474,802 		JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,602,352...11,613,851
Ensembl chr 6:11,600,516...11,613,345 		JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,376,476...11,384,600
Ensembl chr 6:11,374,898...11,384,361 		JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,634,435...11,637,462
Ensembl chr 6:11,632,641...11,637,419 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,572,512...11,588,108
Ensembl chr 6:11,572,540...11,588,224 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,426,857...11,437,343
Ensembl chr 6:11,426,787...11,437,119 		JBrowse link
G HOOK2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,452,154...11,464,718
Ensembl chr 6:11,449,026...11,464,622 		JBrowse link
G IER2 immediate early response 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,834,998...11,838,421
Ensembl chr 6:11,836,706...11,837,377 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,095,319...10,131,985
Ensembl chr 6:10,095,246...10,131,946 		JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,563,773...11,566,615
Ensembl chr 6:11,564,235...11,566,495 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,062,204...10,091,780
Ensembl chr 6:10,062,790...10,091,377 		JBrowse link
G LOC103233966 zinc finger protein 44 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:11,063,515...11,107,460
Ensembl chr 6:11,083,079...11,086,785 		JBrowse link
G LOC103233971 zinc finger protein 442 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:11,131,675...11,182,111 JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,778,634...11,785,474
Ensembl chr 6:11,780,766...11,782,618 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,334,639...11,355,391
Ensembl chr 6:11,334,752...11,355,334 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,516,337...11,555,940
Ensembl chr 6:11,520,813...11,557,680 		JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,800,219...11,825,232
Ensembl chr 6:11,818,968...11,825,412 		JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,705,323...11,778,943
Ensembl chr 6:11,706,060...11,776,083 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,349,063...10,360,292
Ensembl chr 6:10,349,069...10,360,250 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,484,452...11,489,067
Ensembl chr 6:11,481,784...11,489,051 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,360,392...10,375,785
Ensembl chr 6:10,360,751...10,374,208 		JBrowse link
G RAB3D RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,250,538...10,273,340
Ensembl chr 6:10,250,360...10,273,295 		JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,625,464...11,633,922
Ensembl chr 6:11,625,458...11,637,419 		JBrowse link
G RGL3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,320,348...10,348,188 JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,493,752...11,501,167
Ensembl chr 6:11,493,764...11,501,363 		JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,508,417...11,524,011 JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:9,943,162...10,044,476 JBrowse link
G SPC24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,827,745...11,833,916 JBrowse link
G SWSAP1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,308,727...10,311,657
Ensembl chr 6:10,310,178...10,311,509 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,581,915...11,599,770 JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:9,920,952...9,922,407
Ensembl chr 6:9,921,022...9,921,881 		JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:9,829,529...9,833,559
Ensembl chr 6:9,830,086...9,833,529 		JBrowse link
G TMEM205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,276,362...10,280,154
Ensembl chr 6:10,276,364...10,279,534 		JBrowse link
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,387,993...11,414,681
Ensembl chr 6:11,387,683...11,414,709 		JBrowse link
G TRIR telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,419,982...11,424,075
Ensembl chr 6:11,419,938...11,424,062 		JBrowse link
G TRMT1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,786,279...11,799,270
Ensembl chr 6:11,785,730...11,799,730 		JBrowse link
G TSPAN16 tetraspanin 16 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,219,340...10,242,665 JBrowse link
G WDR83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,358,172...11,364,301
Ensembl chr 6:11,358,254...11,364,147 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 6:11,356,542...11,358,109
Ensembl chr 6:11,356,544...11,357,884 		JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:9,915,133...9,927,917
Ensembl chr 6:9,916,223...9,927,902 		JBrowse link
G ZNF136 zinc finger protein 136 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,984,818...11,012,092 JBrowse link
G ZNF433 zinc finger protein 433 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,843,188...10,868,927 JBrowse link
G ZNF441 zinc finger protein 441 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,671,048...10,685,663 JBrowse link
G ZNF490 zinc finger protein 490 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:11,282,982...11,309,779
Ensembl chr 6:11,283,323...11,309,471 		JBrowse link
G ZNF563 zinc finger protein 563 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:11,127,495...11,138,817 JBrowse link
G ZNF564 zinc finger protein 564 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:11,238,707...11,257,482
Ensembl chr 6:11,239,671...11,242,024 		JBrowse link
G ZNF625 zinc finger protein 625 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,949,115...10,962,152
Ensembl chr 6:10,949,715...10,961,909
Ensembl chr 6:10,949,715...10,961,909 		JBrowse link
G ZNF627 zinc finger protein 627 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,507,336...10,531,900 JBrowse link
G ZNF653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,407,624...10,430,246
Ensembl chr 6:10,406,808...10,430,029 		JBrowse link
G ZNF709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:11,196,988...11,213,575 JBrowse link
G ZNF791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:11,309,775...11,324,707 JBrowse link
G ZNF823 zinc finger protein 823 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,626,862...10,644,881 JBrowse link
G ZNF878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 6:10,869,044...10,877,646 JBrowse link
esotropia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Esotropia ClinVar PMID:25741868 NCBI chr17:61,750,757...61,769,041 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 chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474 		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 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474 		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, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar		 PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697 		JBrowse link
Foveal Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH7 atonal bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:28492532 PMID:31696227 NCBI chr 9:63,155,182...63,158,935
Ensembl chr 9:63,157,638...63,158,096 		JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29385733 NCBI chr24:1,064,266...1,100,995
Ensembl chr24:1,064,664...1,066,278 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:31696227 NCBI chr 6:38,974,455...39,032,780
Ensembl chr 6:39,001,467...39,032,347 		JBrowse link
G SLC38A8 solute carrier family 38 member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:24045842 PMID:28492532 PMID:32032626 PMID:33594928 PMID:35029636 NCBI chr 5:69,421,171...69,455,073 JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 More... NCBI chr 1:80,330,051...80,444,646 JBrowse link
foveal hypoplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chr 1:33,419,313...33,679,046
Ensembl chr 1:33,421,038...33,678,990 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome OMIM
ClinVar		 PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More... NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		JBrowse link
foveal hypoplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC38A8 solute carrier family 38 member 8 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis OMIM
ClinVar		 PMID:16199547 PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 More... NCBI chr 5:69,421,171...69,455,073 JBrowse link
Infantile Polymyoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Infantile polymyoclonus ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr 4:163,726...190,145 JBrowse link
INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOBP sine oculis binding protein homolog ISO ClinVar Annotator: match by term: IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus OMIM
ClinVar		 PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 NCBI chr13:66,202,747...66,374,992
Ensembl chr13:66,227,944...66,374,736 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr24:37,596,061...37,707,136
Ensembl chr24:37,626,089...37,676,361 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr24:37,700,468...37,703,103
Ensembl chr24:37,700,513...37,705,814 		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 chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321 		JBrowse link
Joubert syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 PMID:16240161 More... NCBI chr13:37,918,902...38,138,838
Ensembl chr13:37,924,440...38,139,366 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More... NCBI chr 8:60,496,607...60,691,457
Ensembl chr 8:60,496,733...60,524,238 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr14:68,259,509...68,404,167
Ensembl chr14:68,259,360...68,399,895 		JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert syndrome 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr11:83,420,911...83,515,466
Ensembl chr11:83,412,379...83,514,596 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr11:83,407,413...83,422,055
Ensembl chr11:83,407,474...83,422,277 		JBrowse link
Joubert syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert syndrome 6 OMIM
ClinVar		 PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... NCBI chr 8:88,726,783...88,818,111
Ensembl chr 8:88,726,837...88,792,049 		JBrowse link
Joubert syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKD2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar PMID:19936001 PMID:25741868 PMID:28492532 NCBI chr 7:36,369,226...36,445,713
Ensembl chr 7:36,369,524...36,443,612 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr29:21,769,366...21,822,346
Ensembl chr29:21,762,809...21,822,249 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Joubert syndrome 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr 5:39,388,632...39,487,223
Ensembl chr 5:39,387,107...39,487,092 		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 chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO OMIM:530000 MouseDO NCBI chr 9:72,900,665...72,914,634
Ensembl chr 9:72,904,637...72,914,397 		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: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability OMIM
ClinVar		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:54,972,144...55,079,158
Ensembl chr  X:54,973,545...55,021,891 		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 chr 2:47,028,568...47,050,950
Ensembl chr 2:47,029,329...47,050,948 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM17 ADAM metallopeptidase domain 17 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chr14:98,092,093...98,157,657
Ensembl chr14:98,092,044...98,157,217 		JBrowse link
G CPSF3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures OMIM
ClinVar		 PMID:25741868 NCBI chr14:98,174,022...98,226,486
Ensembl chr14:98,173,117...98,226,907 		JBrowse link
G IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chr14:98,158,705...98,173,005
Ensembl chr14:98,158,971...98,173,046 		JBrowse link
G YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures ClinVar NCBI chr14:98,017,300...98,064,973 JBrowse link
Oculomotor Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO mRNA:increased expression:motor neuron RGD PMID:21456016 RGD:5684341 NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364 		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 chr10:122,558,998...122,573,747
Ensembl chr10:122,571,853...122,572,941 		JBrowse link
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 chr 2:47,028,568...47,050,950
Ensembl chr 2:47,029,329...47,050,948 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		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 chr11:76,189,122...76,193,830
Ensembl chr11:76,191,579...76,193,549 		JBrowse link
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:1318289 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar NCBI chr 5:21,021,181...21,107,746
Ensembl chr 5:21,022,133...21,107,824 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr 4:163,726...190,145 JBrowse link
pathologic nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 More... NCBI chr11:83,420,911...83,515,466
Ensembl chr11:83,412,379...83,514,596 		JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr18:5,317,101...5,364,323
Ensembl chr18:5,317,542...5,364,277 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:10888875 PMID:10958649 PMID:15657609 PMID:15712225 PMID:17652762 More... NCBI chr 8:81,757,567...81,911,256
Ensembl chr 8:81,759,642...81,909,760 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25558065 PMID:25741868 NCBI chr25:2,780,593...2,827,565
Ensembl chr25:2,779,504...2,826,538 		JBrowse link
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Nystagmus ClinVar NCBI chr24:37,596,061...37,707,136
Ensembl chr24:37,626,089...37,676,361 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667 		JBrowse link
G GPR143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:15965158 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 More... NCBI chr  X:8,178,818...8,223,291
Ensembl chr  X:8,179,154...8,222,603 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:17964524 PMID:25741868 PMID:28492532 PMID:33546218 NCBI chr16:7,391,260...7,407,549
Ensembl chr16:7,392,419...7,406,305 		JBrowse link
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:17896311 PMID:18235024 PMID:18400204 PMID:21882291 PMID:21911584 More... NCBI chr12:76,825,875...76,838,967
Ensembl chr12:76,826,283...76,837,774 		JBrowse link
G MIP major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr11:52,409,592...52,415,752
Ensembl chr11:52,410,325...52,413,933 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:18327255 PMID:25741868 PMID:28492532 PMID:28497568 PMID:34008892 NCBI chr16:35,182,276...35,196,167
Ensembl chr16:35,182,568...35,199,858 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr18:690,313...815,804
Ensembl chr18:689,671...811,100 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11283794 NCBI chr29:21,769,366...21,822,346
Ensembl chr29:21,762,809...21,822,249 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 More... NCBI chr16:72,192,559...72,203,230
Ensembl chr16:72,190,310...72,203,130 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Nystagmus ClinVar NCBI chr24:37,700,468...37,703,103
Ensembl chr24:37,700,513...37,705,814 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:2,353,543...2,378,950 JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr17:61,750,757...61,769,041 JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chr 8:88,726,783...88,818,111
Ensembl chr 8:88,726,837...88,792,049 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus ClinVar PMID:7704033 PMID:7955413 PMID:9163730 PMID:13680365 PMID:15381243 More... NCBI chr 1:80,330,051...80,444,646 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 chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12707443 PMID:12872260 PMID:18575922 PMID:18973250 PMID:19084593 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		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 chr14:18,135,973...18,209,471
Ensembl chr14:18,136,291...18,209,457 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr16:52,045,398...52,188,416
Ensembl chr16:52,057,784...52,187,997 		JBrowse link
G MAPT microtubule associated protein tau onset
susceptibility		 ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1 RGD
OMIM
ClinVar		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... RGD:8158099 NCBI chr16:59,894,400...60,020,723
Ensembl chr16:59,890,221...59,955,612 		JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr22:1,041,714...1,077,514
Ensembl chr22:1,041,783...1,079,241 		JBrowse link
G NAT2 N-acetyltransferase 2 ISO RGD PMID:22424094 RGD:8552652 NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr22:45,757,414...45,763,690 JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr 2:60,461,219...60,472,999 JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr16:44,945,193...44,948,496
Ensembl chr16:44,945,200...44,946,438 		JBrowse link
G STX6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr25:48,380,359...48,427,279
Ensembl chr25:48,397,712...48,426,676 		JBrowse link
G TARDBP TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr20:120,753,764...120,765,259 JBrowse link
G TRA2B transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr15:3,493,287...3,514,421
Ensembl chr15:3,493,541...3,513,994 		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 susceptibility ISO ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical ClinVar
OMIM		 PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chr16:59,894,400...60,020,723
Ensembl chr16:59,890,221...59,955,612 		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 chr12:1,161,340...1,183,807
Ensembl chr12:1,162,865...1,183,113 		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:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		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 chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		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 Annotator: match by term: Epilepsy, progressive myoclonic 5 | 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:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr22:25,128,160...25,481,385
Ensembl chr22:25,133,352...25,303,131 		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 Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | 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:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		JBrowse link
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIDINS220 kinase D interacting substrate 220 ISO ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 More... NCBI chr14:98,806,935...98,920,706
Ensembl chr14:98,806,939...98,915,437 		JBrowse link
Spinocerebellar Ataxia 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 27A OMIM
ClinVar		 PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 More... NCBI chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510 		JBrowse link
Spinocerebellar Ataxia 27B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF14 fibroblast growth factor 14 ISO OMIM NCBI chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510 		JBrowse link
spinocerebellar ataxia type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 More... NCBI chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510 		JBrowse link
G ITGBL1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:25741868 NCBI chr 3:80,045,404...80,303,978
Ensembl chr 3:80,045,577...80,302,006 		JBrowse link
strabismus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCTF1 AT-hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar NCBI chr25:83,889,934...83,978,965
Ensembl chr25:83,892,508...83,978,935 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr11:111,245,201...111,563,485
Ensembl chr11:111,243,753...111,563,663 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:21520333 PMID:23656349 PMID:25741868 PMID:28492532 PMID:29089047 More... NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307 		JBrowse link
G OLFM3 olfactomedin 3 ISO ClinVar Annotator: match by term: Strabismus, susceptibility to ClinVar NCBI chr20:31,365,222...31,565,127
Ensembl chr20:31,530,708...31,562,665 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 More... NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 NCBI chr22:10,497,921...10,507,673
Ensembl chr22:10,497,658...10,507,325 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 6:9,943,162...10,044,476 JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:115,608,059...115,610,248
Ensembl chr  X:115,608,810...115,610,150 		JBrowse link
G SOX5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr11:23,298,622...24,131,712
Ensembl chr11:23,303,325...23,715,492 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr25:63,110,626...63,150,602
Ensembl chr25:63,110,772...63,150,017 		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:55,152,447...55,498,218 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:54,972,144...55,079,158
Ensembl chr  X:54,973,545...55,021,891 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    sensory system disease 6584
      eye disease 3346
        ocular motility disease 245
          Athabaskan brainstem dysgenesis syndrome 2
          Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 1
          Christianson syndrome 15
          Diffuse Lewy Body Disease with Gaze Palsy 0
          Duane retraction syndrome + 13
          Joubert syndrome 3 3
          Joubert syndrome 5 2
          Joubert syndrome 6 1
          Joubert syndrome 7 3
          Levator-Medial Rectus Synkinesis 0
          Miller Fisher syndrome 0
          Opsoclonus-Myoclonus Syndrome + 3
          Setting-Sun Phenomenon, Familial Benign 0
          Tolosa-Hunt syndrome + 0
          congenital fibrosis of the extraocular muscles + 14
          glaucomatous atrophy of optic disc 0
          ophthalmoplegia + 73
          pathologic nystagmus + 111
          strabismus + 36
          third cranial nerve disease + 2
Path 2
Term Annotations click to browse term
  disease 15285
    Pathological Conditions, Signs and Symptoms 11816
      Signs and Symptoms 9793
        Neurologic Manifestations 9473
          sensory system disease 6584
            eye disease 3346
              ocular motility disease 245
                Athabaskan brainstem dysgenesis syndrome 2
                Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 1
                Christianson syndrome 15
                Diffuse Lewy Body Disease with Gaze Palsy 0
                Duane retraction syndrome + 13
                Joubert syndrome 3 3
                Joubert syndrome 5 2
                Joubert syndrome 6 1
                Joubert syndrome 7 3
                Levator-Medial Rectus Synkinesis 0
                Miller Fisher syndrome 0
                Opsoclonus-Myoclonus Syndrome + 3
                Setting-Sun Phenomenon, Familial Benign 0
                Tolosa-Hunt syndrome + 0
                congenital fibrosis of the extraocular muscles + 14
                glaucomatous atrophy of optic disc 0
                ophthalmoplegia + 73
                pathologic nystagmus + 111
                strabismus + 36
                third cranial nerve disease + 2
paths to the root