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ONTOLOGY REPORT - ANNOTATIONS


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: Conjugate Gaze Spasms;   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;   Smooth Pursuit Deficiency;   conjugate gaze spasm;   disorder of eye movements;   spasm of conjugate gaze
 primary_id: MESH:D015835
 alt_id: RDO:0001821
 xref: GARD:7061;   GARD:7237;   ICD9CM:378.9
For additional species annotation, visit the Alliance of Genome Resources.


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3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:7240710
RGD:8554872
RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
RGD:7240710
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:7240710
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:8554872
RGD:7240710
RGD:11553818
RGD:11554173
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:8554872
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:7240710
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:7240710
RGD:8554872
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh1 ribonuclease H1 JBrowse link 6 47,916,188 47,925,582 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
RGD:7240710
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 COPI coat complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:8554872
RGD:11554173
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 RGD:8554872
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 JBrowse link 1 8,129,354 8,333,890 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
RGD:8554872
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:8554872
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:737726
RGD:11554173
RGD:8694204
RGD:8694183
RGD:8694170
RGD:8694163
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580622
RGD:8554872
RGD:1580620
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:1600544
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:1600402
RGD:8554872
RGD:7240710
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phox2a paired-like homeobox 2a JBrowse link 1 166,893,734 166,898,252 RGD:7240710
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 RGD:7240710
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
RGD:11554173
Congenital Fibrosis of Extraocular Muscles, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen type XXV alpha 1 chain JBrowse link 2 235,515,364 235,705,448 RGD:8554872
RGD:7240710
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen type XXV alpha 1 chain JBrowse link 2 235,515,364 235,705,448 RGD:13592920
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
RGD:13592920
G Phox2a paired-like homeobox 2a JBrowse link 1 166,893,734 166,898,252 RGD:13592920
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 RGD:13592920
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link 6 54,963,990 55,001,806 RGD:11554173
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:8554872
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:13592920
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:11537385
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552281
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 3 60,512,360 60,668,413 RGD:7240710
RGD:8554872
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:8554872
RGD:7240710
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556210
RGD:11554173
RGD:11532205
RGD:11556232
RGD:11556231
RGD:11556215
RGD:11556211
episodic ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:1358446
RGD:8554872
RGD:11554173
RGD:7240710
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:11554173
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:8554872
RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:7240710
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:8554872
RGD:7240710
Foveal Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:7240710
RGD:8554872
Inclusion Body Myopathy 3, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Myh2 myosin heavy chain 2 JBrowse link 10 53,711,895 53,738,164 RGD:7240710
RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:7240710
RGD:8554872
IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:7240710
RGD:8554872
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:1598905
RGD:8554872
RGD:11537395
RGD:11537390
RGD:11537388
RGD:11343130
RGD:11537387
RGD:1304518
RGD:11537346
RGD:7240710
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11537352
RGD:7246903
Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11072184
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
RGD:11537350
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:7241824
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:13592920
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sobp sine oculis binding protein homolog JBrowse link 20 47,731,713 47,910,466 RGD:7240710
RGD:8554872
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
RGD:8554872
RGD:7240710
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:7240710
RGD:8554872
Nystagmus 1, Congenital, X- Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:7240710
RGD:11554173
RGD:8554872
Nystagmus 6, Congenital, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:7240710
RGD:8554872
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
Oculomelic Amyoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
Oculomotor Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:5684341
ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:11554173
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
pathologic nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:11554173
G Rubcn rubicon autophagy regulator JBrowse link 11 71,150,506 71,199,254 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
progressive supranuclear palsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 JBrowse link 4 98,648,513 98,709,695 RGD:11554173
G Map2k6 mitogen-activated protein kinase kinase 6 JBrowse link 10 98,707,160 98,823,054 RGD:7495833
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8158100
RGD:8158099
RGD:8158095
G Mobp myelin-associated oligodendrocyte basic protein JBrowse link 8 128,824,420 128,854,492 RGD:11554173
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552652
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:8657142
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655859
G Srsf2 serine and arginine rich splicing factor 2 JBrowse link 10 105,792,779 105,795,986 RGD:11554173
G Stx6 syntaxin 6 JBrowse link 13 72,804,218 72,850,757 RGD:11554173
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:5687185
G Tra2b transformer 2 beta homolog JBrowse link 11 82,373,828 82,392,208 RGD:11554173
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:7240710
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694285
RGD:8694282
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:11554173
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kidins220 kinase D-interacting substrate 220 JBrowse link 6 44,225,142 44,322,938 RGD:8554872
RGD:7240710
strabismus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahctf1 AT hook containing transcription factor 1 JBrowse link 13 98,023,528 98,079,138 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8699500
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G Med13l mediator complex subunit 13-like JBrowse link 12 43,421,317 43,576,859 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:8554872
G Sox5 SRY-box transcription factor 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
Zonular Cataract and Nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          ocular motility disease 107
            Athabaskan brainstem dysgenesis syndrome 2
            Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 0
            Christianson syndrome 6
            Diffuse Lewy Body Disease with Gaze Palsy 0
            Duane retraction syndrome + 6
            Joubert syndrome 3 1
            Joubert syndrome 5 1
            Joubert syndrome 6 1
            Joubert syndrome 7 1
            Levator-Medial Rectus Synkinesis 0
            Miller Fisher syndrome 0
            Opsoclonus-Myoclonus Syndrome + 1
            Setting-Sun Phenomenon, Familial Benign 0
            Tolosa-Hunt syndrome + 0
            Tukel Syndrome 0
            congenital fibrosis of the extraocular muscles + 4
            glaucomatous atrophy of optic disc 0
            ophthalmoplegia + 45
            pathologic nystagmus + 32
            strabismus + 23
            third cranial nerve disease + 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              ocular motility disease 107
                Athabaskan brainstem dysgenesis syndrome 2
                Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 0
                Christianson syndrome 6
                Diffuse Lewy Body Disease with Gaze Palsy 0
                Duane retraction syndrome + 6
                Joubert syndrome 3 1
                Joubert syndrome 5 1
                Joubert syndrome 6 1
                Joubert syndrome 7 1
                Levator-Medial Rectus Synkinesis 0
                Miller Fisher syndrome 0
                Opsoclonus-Myoclonus Syndrome + 1
                Setting-Sun Phenomenon, Familial Benign 0
                Tolosa-Hunt syndrome + 0
                Tukel Syndrome 0
                congenital fibrosis of the extraocular muscles + 4
                glaucomatous atrophy of optic disc 0
                ophthalmoplegia + 45
                pathologic nystagmus + 32
                strabismus + 23
                third cranial nerve disease + 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.