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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 chr 3:72,996,725...73,033,566
Ensembl chr 3:72,998,816...73,033,651 		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 chr17:2,147,679...2,180,096
Ensembl chr17:2,147,882...2,180,098 		JBrowse link
G MASP1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr34:19,689,426...19,750,669
Ensembl chr34:19,691,630...19,750,587 		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 chr 4:59,068,601...59,090,803
Ensembl chr 4:59,074,008...59,078,892 		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 chr 6:9,488,496...9,492,703
Ensembl chr 6:9,486,372...9,492,243 		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 chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131 		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 chr 6:9,475,132...9,488,611
Ensembl chr 6:9,479,884...9,488,561 		JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 8:48,180,203...48,218,430
Ensembl chr 8:48,183,071...48,257,646 		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 chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681 		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 chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239 		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 chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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 chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		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 chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		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 chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		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 chr 9:12,251,085...12,266,608
Ensembl chr 9:12,251,186...12,266,605 		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 chr 9:12,258,188...12,298,376
Ensembl chr 9:12,269,990...12,298,272 		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 chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		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 4:19,626,001...19,683,819
Ensembl chr 4:19,626,977...19,684,660 		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 chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728 		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 chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		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 chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component 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 chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940 		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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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 chr17:2,117,446...2,127,893
Ensembl chr17:2,117,446...2,127,893 		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 5:82,730,514...82,758,153
Ensembl chr 5:82,729,150...82,756,457 		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 chr17:49,107,085...49,139,366
Ensembl chr17:49,104,546...49,168,782 		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 chr 5:41,262,820...41,290,101
Ensembl chr 5:41,263,017...41,290,100 		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 chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		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 chr18:54,727,932...54,754,077
Ensembl chr18:54,730,454...54,752,646 		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 chr23:35,145,856...35,147,185 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 chr23:35,145,856...35,147,185 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 chr23:35,536,520...35,604,708
Ensembl chr23:35,536,615...35,566,569 		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 chr23:35,145,856...35,147,185 JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chr23:35,508,478...35,536,081 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 chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 NCBI chr 8:22,420,718...22,499,435
Ensembl chr 8:22,420,584...22,497,671 		JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349 		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 chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025 		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 chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		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 chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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:106,700,740...106,784,092
Ensembl chr  X:106,680,887...106,785,009 		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:107,031,586...107,133,402
Ensembl chr  X:107,034,118...107,133,082 		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:106,838,893...106,844,877
Ensembl chr  X:106,838,890...106,843,728 		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:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		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:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233 		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:106,542,450...106,604,494
Ensembl chr  X:106,590,988...106,604,029 		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:107,302,200...107,304,733
Ensembl chr  X:107,303,175...107,304,689 		JBrowse link
G HIVEP2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:34,367,455...34,560,277
Ensembl chr 1:34,369,106...34,398,234 		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:106,848,455...106,866,540
Ensembl chr  X:106,848,455...106,866,540 		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:106,608,250...106,668,161
Ensembl chr  X:106,609,419...106,668,174 		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:107,173,599...107,182,404
Ensembl chr  X:107,175,634...107,182,347 		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:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492 		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:106,408,789...106,465,504
Ensembl chr  X:106,398,850...106,463,252 		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:106,885,568...106,915,659 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:107,822,002...107,833,582
Ensembl chr  X:107,821,948...107,833,597 		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 chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		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 chr 9:12,251,085...12,266,608
Ensembl chr 9:12,251,186...12,266,605 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)		 CTD
RGD		 PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 More... RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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 chr 9:12,258,188...12,298,376
Ensembl chr 9:12,269,990...12,298,272 		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 chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		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 chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		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 chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		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 chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091 		JBrowse link
G FGF21 fibroblast growth factor 21 ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 1:107,571,449...107,576,630
Ensembl chr 1:107,571,446...107,573,281 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		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 chr27:14,205,980...14,328,281
Ensembl chr27:14,181,837...14,327,492 		JBrowse link
G LOC106557476 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr27:5,407,906...5,412,265
Ensembl chr27:5,407,906...5,463,809 		JBrowse link
G LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr37:25,811,491...25,818,838 JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220 		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 chr31:39,507,714...39,559,855
Ensembl chr31:39,507,729...39,561,674 		JBrowse link
G MYH10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 5:33,239,800...33,360,459
Ensembl chr 5:33,241,266...33,360,934 		JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736 		JBrowse link
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr12:512,738...517,154 JBrowse link
G TUBB3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 5:63,681,765...63,690,898
Ensembl chr 5:63,681,752...63,729,684 		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 chr27:14,205,980...14,328,281
Ensembl chr27:14,181,837...14,327,492 		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 chr21:25,895,628...25,900,338
Ensembl chr21:25,892,321...25,900,351 		JBrowse link
congenital fibrosis of the extraocular muscles 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related condition | ClinVar Annotator: match by term: TUBB3-related tubulinopathy OMIM
ClinVar		 PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 More... NCBI chr 5:63,681,765...63,690,898
Ensembl chr 5:63,681,752...63,729,684 		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 chr32:29,119,875...29,567,994
Ensembl chr32:29,124,996...29,567,481 		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 chr34:14,129,978...14,192,016
Ensembl chr34:14,130,017...14,191,370 		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 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr  X:121,594,992...121,599,333
Ensembl chr  X:121,594,864...121,599,277 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		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 chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751 		JBrowse link
G GAS7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr 5:34,334,477...34,457,189
Ensembl chr 5:34,339,098...34,457,164 		JBrowse link
G GLP2R glucagon like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr 5:34,267,270...34,317,525
Ensembl chr 5:34,266,966...34,318,472 		JBrowse link
G MYH1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr 5:34,781,364...34,808,277
Ensembl chr 5:34,781,367...34,806,850 		JBrowse link
G MYH13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr 5:34,617,987...34,669,349
Ensembl chr 5:34,617,971...34,669,589 		JBrowse link
G MYH2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia OMIM
ClinVar		 PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr 5:34,810,791...34,838,177
Ensembl chr 5:34,810,921...34,837,904 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr 5:34,914,797...34,938,263
Ensembl chr 5:34,914,918...34,936,617 		JBrowse link
G MYH4 myosin heavy chain 4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr 5:34,743,454...34,767,076
Ensembl chr 5:34,743,314...34,767,076 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr 5:34,696,377...34,725,515
Ensembl chr 5:34,696,371...34,723,574 		JBrowse link
G RCVRN recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr 5:34,323,580...34,330,667
Ensembl chr 5:34,323,576...34,330,667 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr 5:34,957,358...34,971,684
Ensembl chr 5:34,957,785...34,971,661 		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 chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		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 chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444 		JBrowse link
G ATF6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814 		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 chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G PAX6 paired box 6 ISO DNA:snp:intron:IVS4+5G>C (human) RGD PMID:15629294 RGD:8552281
G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Congenital nystagmus ClinVar PMID:25741868 PMID:28492532 PMID:35348658 NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32971638 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131 		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:103,027,980...103,055,139
Ensembl chr  X:103,028,814...103,079,148 		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:6,438,068...6,479,731
Ensembl chr  X:6,437,660...6,474,447 		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 chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728 		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 chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723 		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 chr10:44,964,979...44,972,607
Ensembl chr10:44,899,103...44,972,613 		JBrowse link
G CHN1 chimerin 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar NCBI chr36:18,785,470...18,990,409
Ensembl chr36:18,786,073...18,980,993 		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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935 		JBrowse link
G CUX1 cut like homeobox 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 6:7,820,154...8,108,236
Ensembl chr 6:7,820,764...8,195,631 		JBrowse link
G FER FER tyrosine kinase ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 3:2,863,804...3,295,999
Ensembl chr 3:2,867,726...3,295,999 		JBrowse link
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr23:35,145,856...35,147,185 JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657 		JBrowse link
G KIF5C kinesin family member 5C ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr19:50,535,622...50,684,485
Ensembl chr19:50,535,456...50,668,738 		JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism
OMIM:126800 | OMIM:604356		 CTD
MouseDO		 NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)
DNA:duplication:cds:c.410dupG (human)
DNA:snps, deletions, insertion:multiple (human)
DNA:nonsense mutation:cds:p.R905X (human)
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation:cds:p.M640IfsX25 (human)		 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 chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		JBrowse link
G TUBA8 tubulin alpha 8 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr27:45,706,576...45,725,679
Ensembl chr27:45,675,472...45,725,681 		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 chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948 		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 chr36:18,785,470...18,990,409
Ensembl chr36:18,786,073...18,980,993 		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 chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948 		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 chr20:49,812,444...49,816,262
Ensembl chr20:49,814,032...49,816,260 		JBrowse link
G ANGPTL8 angiopoietin like 8 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,040,383...50,043,312
Ensembl chr20:50,040,383...50,042,031 		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 chr20:49,384,595...49,388,758
Ensembl chr20:49,384,966...49,388,755 		JBrowse link
G C20H19orf38 chromosome 20 C19orf38 homolog ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,374,159...50,395,695
Ensembl chr20:50,373,622...50,386,594 		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 chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		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 chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245 		JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,328,466...50,371,845
Ensembl chr20:50,331,030...50,348,195 		JBrowse link
G CCDC159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,964,345...49,970,461
Ensembl chr20:49,964,350...49,970,400 		JBrowse link
G CNN1 calponin 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,830,859...49,837,432
Ensembl chr20:49,831,265...49,837,385 		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 chr20:49,225,351...49,228,940
Ensembl chr20:49,225,990...49,228,940 		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 chr20:49,435,956...49,439,493
Ensembl chr20:49,435,844...49,439,479 		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 chr20:49,299,236...49,301,815
Ensembl chr20:49,299,406...49,301,814 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,029,354...50,066,829
Ensembl chr20:50,029,369...50,066,829 		JBrowse link
G ECSIT ECSIT signaling integrator ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,848,848...49,867,075
Ensembl chr20:49,848,912...49,867,066 		JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,886,379...49,904,706
Ensembl chr20:49,886,786...49,901,523 		JBrowse link
G ELOF1 elongation factor 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,821,968...49,828,052
Ensembl chr14:1,384,324...1,385,366 		JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856 		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 chr20:49,258,827...49,267,279
Ensembl chr20:49,258,845...49,267,198 		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 chr20:49,425,423...49,430,673
Ensembl chr20:49,425,534...49,430,667 		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 chr20:49,241,956...49,243,838
Ensembl chr20:49,241,962...49,243,837 		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 chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		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 chr20:49,392,662...49,398,662
Ensembl chr20:49,392,662...49,398,664 		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 chr20:49,367,450...49,383,109
Ensembl chr20:49,367,876...49,382,813 		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 chr20:49,071,243...49,074,184
Ensembl chr20:49,072,234...49,072,902 		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 chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442 		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 chr20:50,067,749...50,093,377
Ensembl chr20:50,067,760...50,091,320 		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 chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602 		JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355 		JBrowse link
G LOC100682654 zinc finger protein 709 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,614,418...49,647,119 JBrowse link
G LOC484933 zinc finger protein 791 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,471,754...49,519,080
Ensembl chr20:49,473,392...49,500,773 		JBrowse link
G LOC611075 zinc finger protein 709 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,722,550...49,743,492 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 chr20:49,109,358...49,113,911 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 chr20:49,446,162...49,461,812 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 chr20:49,302,037...49,329,247
Ensembl chr20:49,302,162...49,329,837 		JBrowse link
G MIR199-1 microRNA mir-199-1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,410,924...50,410,984
Ensembl chr20:50,410,913...50,410,994 		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 chr20:49,080,490...49,099,623
Ensembl chr20:49,083,132...49,099,884 		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 chr20:49,117,087...49,187,023
Ensembl chr20:49,117,943...49,214,788 		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 chr20:49,917,183...49,926,417
Ensembl chr20:49,917,350...49,926,424 		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 chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,905,246...49,916,551
Ensembl chr20:49,905,248...49,916,463 		JBrowse link
G RAB3D RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,974,592...49,985,362
Ensembl chr20:49,974,590...49,983,062 		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 chr20:49,244,330...49,250,058
Ensembl chr20:49,241,358...49,250,039 		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 chr20:49,926,916...49,942,013
Ensembl chr20:49,925,185...49,942,130 		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 chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167 		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 chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223 		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 chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G SPC24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,099,821...50,107,626
Ensembl chr20:50,099,878...50,107,607 		JBrowse link
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 chr20:49,075,302...49,078,694
Ensembl chr20:49,075,834...49,085,324 		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 chr20:49,951,633...49,953,281
Ensembl chr20:49,951,783...49,953,434 		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 chr20:49,267,985...49,285,986
Ensembl chr20:49,281,773...49,283,880 		JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,323,735...50,326,483
Ensembl chr20:50,325,482...50,326,711 		JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,395,862...50,399,118
Ensembl chr20:50,396,005...50,407,535 		JBrowse link
G TMEM205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,970,042...49,973,040
Ensembl chr20:49,970,508...49,973,041 		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 chr20:49,407,842...49,424,220
Ensembl chr20:49,407,152...49,424,752 		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 chr20:49,400,082...49,403,533
Ensembl chr20:49,400,179...49,403,530 		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 chr20:49,100,794...49,108,734
Ensembl chr20:49,101,158...49,108,732 		JBrowse link
G TSPAN16 tetraspanin 16 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,997,432...50,006,844 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 chr20:49,439,387...49,443,661
Ensembl chr20:49,439,387...49,443,661 		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 chr20:49,443,893...49,445,342
Ensembl chr20:49,443,951...49,445,330 		JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:50,326,437...50,331,038
Ensembl chr20:50,325,271...50,331,031 		JBrowse link
G ZNF653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr20:49,867,522...49,883,889
Ensembl chr20:49,866,056...49,883,847 		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 chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:9,563,353...9,579,111
Ensembl chr 5:9,563,345...9,579,289 		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 5:9,563,353...9,579,111
Ensembl chr 5:9,563,345...9,579,289 		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 chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967 		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 4:19,466,476...19,479,279
Ensembl chr 4:19,478,694...19,479,152 		JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29385733 NCBI chr 8:4,086,487...4,090,373
Ensembl chr 8:4,086,508...4,089,216 		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 5:68,289,864...68,308,381
Ensembl chr 5:68,289,485...68,308,340 		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 chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005 		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...
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 5:68,289,864...68,308,381
Ensembl chr 5:68,289,485...68,308,340 		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 chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		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 chr12:64,653,814...64,794,144
Ensembl chr12:64,664,288...64,794,358 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8H14orf39 chromosome 8 C14orf39 homolog ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 8:35,486,476...35,542,214
Ensembl chr 8:35,487,228...35,542,218 		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 chr 8:35,565,838...35,568,423
Ensembl chr 8:35,566,018...35,567,838 		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 chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		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 chr 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351 		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 chr29:14,443,036...14,613,839
Ensembl chr29:14,444,853...14,613,755 		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 chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063 		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 chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		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 chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861 		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 chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559 		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 chr32:11,383,441...11,437,603
Ensembl chr32:11,383,424...11,435,438 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735 		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 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284 		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 chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598 		JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,911...10,207
Ensembl chr MT:9,911...10,207 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO OMIM:530000 MouseDO NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058 		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:49,783,962...49,852,098
Ensembl chr  X:49,785,291...49,852,006 		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 chr24:5,068,147...5,083,941 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 chr17:6,589,874...6,638,788
Ensembl chr17:6,589,878...6,638,731 		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 chr17:6,537,404...6,576,121
Ensembl chr17:6,537,465...6,575,825 		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 chr17:6,578,407...6,588,982
Ensembl chr17:6,578,471...6,588,957 		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 chr17:6,660,504...6,697,954 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 chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032 		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 chr25:47,327,921...47,339,632
Ensembl chr25:47,327,963...47,339,622 		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 chr24:5,068,147...5,083,941 JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: External ophthalmoplegia ClinVar NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr 7:64,764,941...64,802,507
Ensembl chr 7:64,760,121...64,802,902 		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 chr15:23,049,235...23,051,604
Ensembl chr15:23,048,585...23,051,970 		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 chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar NCBI chr 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349 		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 chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189 		JBrowse link
pathologic nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8H14orf39 chromosome 8 C14orf39 homolog ISO ClinVar Annotator: match by term: Nystagmus ClinVar NCBI chr 8:35,486,476...35,542,214
Ensembl chr 8:35,487,228...35,542,218 		JBrowse link
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 chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976 		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 chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25558065 PMID:25741868 NCBI chr 7:38,085,441...38,123,037
Ensembl chr 7:38,085,885...38,122,974 		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 chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		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:6,438,068...6,479,731
Ensembl chr  X:6,437,660...6,474,447 		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 chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687 		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 chr 1:91,338,401...91,350,537
Ensembl chr 1:91,338,401...91,349,967 		JBrowse link
G MIP major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr10:701,385...707,005
Ensembl chr10:701,387...706,151 		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 chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11283794 NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735 		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 chr 9:1,540,933...1,547,029
Ensembl chr 9:1,540,932...1,547,029 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Nystagmus ClinVar NCBI chr 8:35,565,838...35,568,423
Ensembl chr 8:35,566,018...35,567,838 		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 chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680 		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 6:38,531,547...38,557,472 JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270 		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 chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559 		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 chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 More... NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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 chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		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 chr17:37,886,397...37,950,671
Ensembl chr17:37,886,601...37,949,812 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr 9:15,840,714...15,962,400
Ensembl chr 9:15,840,983...15,952,026 		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 chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr23:9,121,277...9,176,128
Ensembl chr23:9,121,319...9,161,972 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264 		JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr 9:4,028,414...4,032,371
Ensembl chr 9:4,028,482...4,030,793 		JBrowse link
G STX6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 7:14,452,663...14,506,120
Ensembl chr 7:14,458,404...14,556,917 		JBrowse link
G TARDBP TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593 		JBrowse link
G TRA2B transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr34:18,637,725...18,656,869
Ensembl chr34:18,638,325...18,657,862 		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 chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		JBrowse link
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Ataxia with Dysarthria ClinVar PMID:31047799 NCBI chr 9:48,610,906...48,630,932
Ensembl chr 9:48,613,996...48,629,857 		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 chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		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 chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis OMIM
ClinVar		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		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 chr20:26,810,167...27,131,864
Ensembl chr20:26,809,958...27,220,057 		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 chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		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 chr17:5,983,208...6,077,609
Ensembl chr17:5,982,938...6,071,165 		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 chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849 		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 chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849 		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 chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849 		JBrowse link
G ITGBL1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:25741868 NCBI chr22:51,157,789...51,377,441
Ensembl chr22:51,158,169...51,380,430 		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 chr 7:37,550,045...37,627,428
Ensembl chr 7:37,543,496...37,627,131 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397 		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 chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512 		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 chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382 		JBrowse link
G OLFM3 olfactomedin 3 ISO ClinVar Annotator: match by term: Strabismus, susceptibility to ClinVar NCBI chr 6:48,259,403...48,453,110
Ensembl chr 6:48,259,545...48,446,363 		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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		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 chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099 		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 chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		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:110,361,354...110,363,458
Ensembl chr  X:110,362,124...110,363,458 		JBrowse link
G SOX5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr27:22,857,661...23,855,709
Ensembl chr27:23,452,985...23,851,380 		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 chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680 		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 chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283 		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:50,295,906...50,507,290
Ensembl chr  X:50,296,114...50,503,019 		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:49,783,962...49,852,098
Ensembl chr  X:49,785,291...49,852,006 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15615
    sensory system disease 6673
      eye disease 3382
        ocular motility disease 243
          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 + 14
          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 + 15
          glaucomatous atrophy of optic disc 0
          ophthalmoplegia + 81
          pathologic nystagmus + 100
          strabismus + 37
          third cranial nerve disease + 2
Path 2
Term Annotations click to browse term
  disease 15615
    Pathological Conditions, Signs and Symptoms 12068
      Signs and Symptoms 9958
        Neurologic Manifestations 9636
          sensory system disease 6673
            eye disease 3382
              ocular motility disease 243
                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 + 14
                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 + 15
                glaucomatous atrophy of optic disc 0
                ophthalmoplegia + 81
                pathologic nystagmus + 100
                strabismus + 37
                third cranial nerve disease + 2
paths to the root