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ONTOLOGY REPORT - ANNOTATIONS


Term:cranial nerve disease
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Accession:DOID:5656 term browser browse the term
Definition:Disorders of one or more of the twelve cranial nerves. With the exception of the optic and olfactory nerves, this includes disorders of the brain stem nuclei from which the cranial nerves originate or terminate.
Synonyms:exact_synonym: Cranial Nerve Disorder;   Cranial Nerve Disorders;   Cranial Neuropathies;   Cranial Neuropathy;   Multiple Cranial Neuropathies;   Multiple Cranial Neuropathy;   cranial nerve diseases;   disorder of cranial nerve;   nervus cranialis disorder;   nervus cranialis disorders
 primary_id: MESH:D003389
 alt_id: RDO:0004094
 xref: ICD10CM:G52.9;   ICD9CM:352.9;   NCI:C26733
For additional species annotation, visit the Alliance of Genome Resources.


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3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 45,527,427 45,584,802 RGD:8554872
RGD:7240710
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COLEC11 collectin subfamily member 11 JBrowse link 2 3,594,832 3,644,644 RGD:8554872
RGD:11554173
RGD:7240710
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 3 187,217,282 187,293,529 RGD:11554173
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 149,960,758 149,987,400 RGD:8554872
acoustic neuroma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARTN artemin JBrowse link 1 43,933,320 43,937,240 RGD:8655552
G BDNF brain derived neurotrophic factor JBrowse link 11 27,654,893 27,722,030 RGD:8655552
G CAV1 caveolin 1 JBrowse link 7 116,525,009 116,561,185 RGD:8661782
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 6 36,676,463 36,687,332 RGD:8661792
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 JBrowse link 10 133,527,363 133,539,123 RGD:1358568
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:5688735
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 38,411,138 38,468,834 RGD:11567268
G GDNF glial cell derived neurotrophic factor JBrowse link 5 37,812,677 37,840,044 RGD:8655552
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:8548833
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 45,912,245 45,921,272 RGD:8548833
G NF2 neurofibromin 2 JBrowse link 22 29,603,556 29,698,600 RGD:8661792
G VEGFA vascular endothelial growth factor A JBrowse link 6 43,770,209 43,786,487 RGD:8547959
Alazami-Yuan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAF6 TATA-box binding protein associated factor 6 JBrowse link 7 100,107,070 100,127,208 RGD:8554872
RGD:7240710
anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BECN1 beclin 1 JBrowse link 17 42,810,132 42,824,316 RGD:6483070
G CSF3 colony stimulating factor 3 JBrowse link 17 40,015,440 40,017,813 RGD:11039419
G IFNA2 interferon alpha 2 JBrowse link 9 21,384,255 21,385,398 RGD:11554173
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,307 4,262 RGD:5490236
G NOS3 nitric oxide synthase 3 JBrowse link 7 150,991,017 151,014,588 RGD:7775040
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 14 75,079,353 75,127,637 RGD:8554872
RGD:7240710
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,508,379 89,557,768 RGD:8554872
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXA1 homeobox A1 JBrowse link 7 27,092,993 27,096,000 RGD:11553818
RGD:8554872
RGD:11554173
RGD:7240710
G HOXA2 homeobox A2 JBrowse link 7 27,100,354 27,102,683 RGD:8554872
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDXR ferredoxin reductase JBrowse link 17 74,862,497 74,872,994 RGD:8554872
RGD:7240710
autoimmune optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFH neurofilament heavy JBrowse link 22 29,480,218 29,491,390 RGD:27226805
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCI FA complementation group I JBrowse link 15 89,243,973 89,317,259 RGD:8554872
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,320 89,334,824 RGD:8554872
RGD:7240710
G TWNK twinkle mtDNA helicase JBrowse link 10 100,987,543 100,994,403 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 4 185,143,266 185,150,382 RGD:8554872
RGD:7240710
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 10 100,987,543 100,994,403 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 17 64,449,006 64,496,469 RGD:8554872
G POLG2 DNA polymerase gamma 2, accessory subunit JBrowse link 17 64,477,785 64,497,054 RGD:8554872
RGD:7240710
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 8 102,204,501 102,238,961 RGD:8554872
RGD:7240710
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNA2 DNA replication helicase/nuclease 2 JBrowse link 10 68,414,064 68,472,521 RGD:8554872
RGD:7240710
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,260,368 6,303,265 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCI FA complementation group I JBrowse link 15 89,243,973 89,317,259 RGD:8554872
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,320 89,334,824 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 2 3,531,813 3,558,367 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 16 66,508,003 66,550,412 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 2 73,926,827 73,958,961 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 17 18,269,958 18,314,996 RGD:8554872
RGD:7240710
Behr syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,149 193,697,811 RGD:8554872
RGD:7240710
G OPA1-AS1 OPA1 antisense RNA 1 JBrowse link 3 193,618,599 193,627,332 RGD:8554872
bilateral optic nerve hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAX6 paired box 6 JBrowse link 11 31,789,026 31,817,961 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 3 139,355,595 139,389,680 RGD:8554872
G FOXL2 forkhead box L2 JBrowse link 3 138,944,224 138,947,137 RGD:1598958
RGD:8554872
RGD:11554173
RGD:7240710
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 3 139,343,994 139,357,140 RGD:8554872
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM172A family with sequence similarity 172 member A JBrowse link 5 93,615,130 94,111,699 RGD:8554872
G KIAA0825 KIAA0825 JBrowse link 5 94,150,856 94,618,604 RGD:8554872
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 5 93,583,222 93,594,613 RGD:8554872
RGD:7240710
G POU5F2 POU domain class 5, transcription factor 2 JBrowse link 5 93,733,220 93,741,600 RGD:8554872
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 19 41,966,582 41,994,230 RGD:11576280
RGD:8554872
RGD:7240710
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYMK myomaker, myoblast fusion factor JBrowse link 9 133,514,586 133,524,959 RGD:8554872
RGD:7240710
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRAT carnitine O-acetyltransferase JBrowse link 9 129,094,794 129,110,793 RGD:8554872
Cayler Cardiofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EYA1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 8 71,197,433 71,548,104 RGD:11554173
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCI FA complementation group I JBrowse link 15 89,243,973 89,317,259 RGD:8554872
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,320 89,334,824 RGD:8554872
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDAP1 ganglioside induced differentiation associated protein 1 JBrowse link 8 74,350,383 74,488,872 RGD:8554872
RGD:7240710
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 127,451,486 127,503,501 RGD:11554173
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 107,628,424 107,651,026 RGD:8554872
RGD:7240710
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKFY1 ankyrin repeat and FYVE domain containing 1 JBrowse link 17 4,163,818 4,263,979 RGD:13592920
G SACS sacsin molecular chaperone JBrowse link 13 23,328,827 23,433,728 RGD:8554872
RGD:7240710
G SGCG sarcoglycan gamma JBrowse link 13 23,160,508 23,325,162 RGD:8554872
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 18,425,605 18,653,629 RGD:8554872
G HIVEP2 HIVEP zinc finger 2 JBrowse link 6 142,751,469 142,945,756 RGD:8554872
G RS1 retinoschisin 1 JBrowse link X 18,639,688 18,672,108 RGD:8554872
G SLC9A6 solute carrier family 9 member A6 JBrowse link X 135,974,596 136,047,269 RGD:8554872
RGD:7240710
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1A interleukin 1 alpha JBrowse link 2 112,773,925 112,784,493 RGD:11554173
G IL1B interleukin 1 beta JBrowse link 2 112,829,751 112,836,843 RGD:11554173
G MILR1 mast cell immunoglobulin like receptor 1 JBrowse link 17 64,449,006 64,496,469 RGD:8554872
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 JBrowse link MT 3,230 3,304 RGD:8554872
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 JBrowse link MT 7,446 7,514 RGD:8554872
G MYF5 myogenic factor 5 JBrowse link 12 80,716,912 80,719,671 RGD:8554872
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,320 89,334,824 RGD:8694170
RGD:11554173
RGD:8694204
RGD:8694183
RGD:8694163
RGD:737726
G POLG2 DNA polymerase gamma 2, accessory subunit JBrowse link 17 64,477,785 64,497,054 RGD:8554872
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 8 102,204,501 102,238,961 RGD:8554872
G SLC25A4 solute carrier family 25 member 4 JBrowse link 4 185,143,266 185,150,382 RGD:1580622
RGD:8554872
RGD:1580620
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,693 31,668,931 RGD:11554173
G SOD2 superoxide dismutase 2 JBrowse link 6 159,669,069 159,762,281 RGD:11554173
G TWNK twinkle mtDNA helicase JBrowse link 10 100,987,543 100,994,403 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 12 39,293,228 39,443,147 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 11 72,239,077 72,244,176 RGD:8554872
RGD:7240710
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 16 89,921,925 89,936,097 RGD:8554872
RGD:7240710
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF21A kinesin family member 21A JBrowse link 12 39,293,228 39,443,147 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 4 108,808,725 109,302,737 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 4 108,808,725 109,302,737 RGD:13592920
G KIF21A kinesin family member 21A JBrowse link 12 39,293,228 39,443,147 RGD:8554872
RGD:13592920
G PHOX2A paired like homeobox 2A JBrowse link 11 72,239,077 72,244,176 RGD:13592920
G TUBB3 tubulin beta 3 class III JBrowse link 16 89,921,925 89,936,097 RGD:13592920
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 7 17,298,652 17,346,147 RGD:11554173
G ATF6 activating transcription factor 6 JBrowse link 1 161,766,320 161,964,070 RGD:11554173
G MYO7A myosin VIIA JBrowse link 11 77,128,192 77,215,241 RGD:11537385
G PAX6 paired box 6 JBrowse link 11 31,789,026 31,817,961 RGD:8552281
congenital nystagmus 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRMD7 FERM domain containing 7 JBrowse link X 132,074,926 132,128,020 RGD:8554872
RGD:11554173
RGD:7240710
congenital nystagmus 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,725,346 9,786,260 RGD:8554872
RGD:7240710
Cranial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP4 bone morphogenetic protein 4 JBrowse link 14 53,949,736 53,956,891 RGD:2289006
G CX3CL1 C-X3-C motif chemokine ligand 1 JBrowse link 16 57,372,490 57,385,044 RGD:4891994
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TIMM8A translocase of inner mitochondrial membrane 8A JBrowse link X 101,345,661 101,348,742 RGD:13209130
RGD:8554872
RGD:11554173
RGD:7240710
RGD:13209136
RGD:13209134
distal arthrogryposis type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIEZO2 piezo type mechanosensitive ion channel component 2 JBrowse link 18 10,670,237 11,149,585 RGD:8554872
RGD:7240710
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC138 coiled-coil domain containing 138 JBrowse link 2 108,786,733 108,885,485 RGD:8554872
G EDAR ectodysplasin A receptor JBrowse link 2 108,894,471 108,989,256 RGD:8554872
G GCC2 GRIP and coiled-coil domain containing 2 JBrowse link 2 108,448,561 108,509,415 RGD:8554872
G GCC2-AS1 GCC2 antisense RNA 1 JBrowse link 2 108,507,527 108,534,219 RGD:8554872
G LIMS1 LIM zinc finger domain containing 1 JBrowse link 2 108,533,671 108,687,246 RGD:8554872
G LIMS1-AS1 LIMS1 antisense RNA 1 JBrowse link 2 108,676,795 108,678,601 RGD:8554872
G LINC01593 long intergenic non-protein coding RNA 1593 JBrowse link 2 108,049,200 108,052,755 RGD:8554872
G LINC01594 long intergenic non-protein coding RNA 1594 JBrowse link 2 108,167,748 108,217,841 RGD:8554872
G RANBP2 RAN binding protein 2 JBrowse link 2 108,719,446 108,785,809 RGD:8554872
G SLC5A7 solute carrier family 5 member 7 JBrowse link 2 107,986,524 108,014,497 RGD:8554872
RGD:7240710
G SULT1C2 sulfotransferase family 1C member 2 JBrowse link 2 108,288,895 108,309,915 RGD:8554872
G SULT1C3 sulfotransferase family 1C member 3 JBrowse link 2 108,239,968 108,265,608 RGD:8554872
G SULT1C4 sulfotransferase family 1C member 4 JBrowse link 2 108,377,954 108,388,989 RGD:8554872
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCTN1 dynactin subunit 1 JBrowse link 2 74,361,155 74,391,866 RGD:7240710
RGD:8554872
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 101,964,573 102,056,443 RGD:8554872
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 30,594,735 30,634,033 RGD:8554872
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
G MPZ myelin protein zero JBrowse link 1 161,303,594 161,309,969 RGD:8554872
G NEFL neurofilament light JBrowse link 8 24,950,955 24,956,612 RGD:8554872
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 1 6,466,092 6,520,092 RGD:8554872
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 3 38,845,764 39,051,944 RGD:8554872
G SETX senataxin JBrowse link 9 132,261,356 132,356,726 RGD:8554872
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 5 148,982,150 149,063,062 RGD:8554872
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,398 RGD:8554872
dominant optic atrophy plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,149 193,697,811 RGD:8554872
RGD:7240710
G OPA1-AS1 OPA1 antisense RNA 1 JBrowse link 3 193,618,599 193,627,332 RGD:8554872
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 JBrowse link 2 55,865,967 55,924,163 RGD:1598888
RGD:8554872
RGD:7240710
RGD:10401794
RGD:10401791
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 2 174,798,809 175,005,381 RGD:8554872
RGD:11554173
G MAFB MAF bZIP transcription factor B JBrowse link 20 40,685,848 40,689,236 RGD:11554173
G SALL4 spalt like transcription factor 4 JBrowse link 20 51,782,331 51,802,521 RGD:11556210
RGD:11554173
RGD:11532205
RGD:11556232
RGD:11556231
RGD:11556215
RGD:11556211
Duane Retraction Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAFB MAF bZIP transcription factor B JBrowse link 20 40,685,848 40,689,236 RGD:8554872
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 2 174,798,809 175,005,381 RGD:8554872
RGD:7240710
Duane Retraction Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAFB MAF bZIP transcription factor B JBrowse link 20 40,685,848 40,689,236 RGD:8554872
RGD:7240710
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MECR mitochondrial trans-2-enoyl-CoA reductase JBrowse link 1 29,192,657 29,230,948 RGD:8554872
RGD:7240710
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 13,206,442 13,506,479 RGD:1358446
RGD:8554872
RGD:11554173
RGD:7240710
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDX2 ferredoxin 2 JBrowse link 19 10,310,045 10,316,015 RGD:7240710
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) JBrowse link MT 14,674 14,742 RGD:8554872
G SLC25A4 solute carrier family 25 member 4 JBrowse link 4 185,143,266 185,150,382 RGD:8554872
G SLC25A42 solute carrier family 25 member 42 JBrowse link 19 19,063,994 19,113,030 RGD:8554872
epithelial basement membrane dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGFBI transforming growth factor beta induced JBrowse link 5 136,028,988 136,063,818 RGD:8554872
RGD:7240710
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TFAP2A transcription factor AP-2 alpha JBrowse link 6 10,396,677 10,420,060 RGD:8554872
Facial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADCYAP1 adenylate cyclase activating polypeptide 1 JBrowse link 18 904,384 912,172 RGD:2325258
G ATF2 activating transcription factor 2 JBrowse link 2 175,072,250 175,168,206 RGD:10047413
G CCR3 C-C motif chemokine receptor 3 JBrowse link 3 46,210,699 46,266,706 RGD:6892922
G CD59 CD59 molecule (CD59 blood group) JBrowse link 11 33,703,010 33,736,479 RGD:1600495
G CSF1 colony stimulating factor 1 JBrowse link 1 109,910,506 109,930,992 RGD:5131509
G CTSS cathepsin S JBrowse link 1 150,730,188 150,765,778 RGD:5686912
G GFRA1 GDNF family receptor alpha 1 JBrowse link 10 116,056,925 116,274,705 RGD:6218984
G HGF hepatocyte growth factor JBrowse link 7 81,699,006 81,770,438 RGD:8548634
G MT3 metallothionein 3 JBrowse link 16 56,589,528 56,591,085 RGD:9685806
G NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 JBrowse link 7 123,536,997 123,601,651 RGD:2302319
G RET ret proto-oncogene JBrowse link 10 43,077,027 43,130,351 RGD:6218984
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TUBB6 tubulin beta 6 class V JBrowse link 18 12,307,669 12,329,826 RGD:8554872
RGD:7240710
facial paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:8547852
G POMC proopiomelanocortin JBrowse link 2 25,160,853 25,168,851 RGD:11554173
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 52,340,172 53,535,899 RGD:11554173
G ROBO3 roundabout guidance receptor 3 JBrowse link 11 124,865,432 124,881,471 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 11 124,865,432 124,881,471 RGD:7240710
RGD:8554872
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 52,340,172 53,535,899 RGD:8554872
RGD:7240710
Foveal Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATOH7 atonal bHLH transcription factor 7 JBrowse link 10 68,230,595 68,232,113 RGD:8554872
G NRL neural retina leucine zipper JBrowse link 14 24,078,662 24,114,949 RGD:8554872
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 45,527,427 45,584,802 RGD:8554872
G SLC38A8 solute carrier family 38 member 8 JBrowse link 16 84,009,667 84,043,372 RGD:8554872
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 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 16 84,009,667 84,043,372 RGD:8554872
RGD:7240710
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANTXR1 ANTXR cell adhesion molecule 1 JBrowse link 2 69,013,144 69,249,327 RGD:9684854
RGD:8554872
RGD:7240710
Hereditary Congenital Facial Paresis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXB1 homeobox B1 JBrowse link 17 48,528,526 48,531,011 RGD:11554173
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXB1 homeobox B1 JBrowse link 17 48,528,526 48,531,011 RGD:8554872
RGD:7240710
Hereditary Optic Atrophies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CASK calcium/calmodulin dependent serine protein kinase JBrowse link X 41,514,934 41,923,554 RGD:734690
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,760 12,137 RGD:11554173
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 14,149 14,673 RGD:11554173
G TMEM126A transmembrane protein 126A JBrowse link 11 85,647,919 85,656,553 RGD:8554872
Hypoglossal Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 JBrowse link 21 26,835,755 26,845,409 RGD:5037239
G AIF1 allograft inflammatory factor 1 JBrowse link 6 31,615,212 31,617,015 RGD:704401
G CSNK2B casein kinase 2 beta JBrowse link 6 31,665,880 31,670,070 RGD:11565824
G FGF2 fibroblast growth factor 2 JBrowse link 4 122,826,708 122,898,236 RGD:8655640
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 38,411,138 38,468,834 RGD:8655640
G GFRA1 GDNF family receptor alpha 1 JBrowse link 10 116,056,925 116,274,705 RGD:6218979
G IL1R1 interleukin 1 receptor type 1 JBrowse link 2 102,069,638 102,179,874 RGD:5037239
G MCAM melanoma cell adhesion molecule JBrowse link 11 119,305,759 119,317,130 RGD:7364787
G MME membrane metalloendopeptidase JBrowse link 3 155,024,124 155,183,729 RGD:13801045
G PRKACA protein kinase cAMP-activated catalytic subunit alpha JBrowse link 19 14,091,688 14,117,762 RGD:7327191
G PRKACB protein kinase cAMP-activated catalytic subunit beta JBrowse link 1 84,077,975 84,238,498 RGD:7327191
G RET ret proto-oncogene JBrowse link 10 43,077,027 43,130,351 RGD:6218979
G SMAD1 SMAD family member 1 JBrowse link 4 145,481,306 145,559,176 RGD:1643227
G SMAD2 SMAD family member 2 JBrowse link 18 47,808,957 47,931,188 RGD:1643227
G SMAD3 SMAD family member 3 JBrowse link 15 67,065,602 67,195,195 RGD:1643227
G SMAD4 SMAD family member 4 JBrowse link 18 51,030,213 51,085,042 RGD:1643227
G SMAD7 SMAD family member 7 JBrowse link 18 48,919,853 48,950,711 RGD:1643227
G SMAD9 SMAD family member 9 JBrowse link 13 36,844,831 36,920,721 RGD:1643227
G TXNRD1 thioredoxin reductase 1 JBrowse link 12 104,215,779 104,350,307 RGD:5133729
Inclusion Body Myopathy 3, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCG FA complementation group G JBrowse link 9 35,073,839 35,079,942 RGD:8554872
G GAS7 growth arrest specific 7 JBrowse link 17 9,910,606 10,198,606 RGD:8554872
G GLP2R glucagon like peptide 2 receptor JBrowse link 17 9,825,508 9,894,163 RGD:8554872
G MYH1 myosin heavy chain 1 JBrowse link 17 10,492,307 10,518,719 RGD:8554872
G MYH13 myosin heavy chain 13 JBrowse link 17 10,300,865 10,373,006 RGD:8554872
G MYH2 myosin heavy chain 2 JBrowse link 17 10,521,148 10,549,658 RGD:8554872
RGD:7240710
G MYH4 myosin heavy chain 4 JBrowse link 17 10,443,058 10,469,559 RGD:8554872
G MYH8 myosin heavy chain 8 JBrowse link 17 10,390,322 10,421,950 RGD:8554872
G MYHAS myosin heavy chain gene cluster antisense RNA JBrowse link 17 10,383,132 10,625,540 RGD:8554872
G RCVRN recoverin JBrowse link 17 9,896,320 9,905,271 RGD:8554872
G VCP valosin containing protein JBrowse link 9 35,056,064 35,072,668 RGD:8554872
infantile cerebellar-retinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACO2 aconitase 2 JBrowse link 22 41,468,756 41,528,979 RGD:8554872
RGD:7240710
G POLR3H RNA polymerase III subunit H JBrowse link 22 41,525,799 41,544,606 RGD:8554872
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 11 119,338,942 119,346,705 RGD:8554872
G MFRP membrane frizzled-related protein JBrowse link 11 119,338,942 119,346,705 RGD:11553925
RGD:8554872
RGD:7240710
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 14 60,509,146 60,512,850 RGD:8554872
RGD:11554173
IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SALL4 spalt like transcription factor 4 JBrowse link 20 51,782,331 51,802,521 RGD:8554872
RGD:7240710
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHI1 Abelson helper integration site 1 JBrowse link 6 135,283,532 135,497,771 RGD:1598905
RGD:8554872
RGD:7240710
RGD:11537395
RGD:11537390
RGD:11537388
RGD:11343130
RGD:11537387
RGD:1304518
RGD:11537346
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C12orf29 chromosome 12 open reading frame 29 JBrowse link 12 88,035,536 88,050,160 RGD:8554872
G CEP290 centrosomal protein 290 JBrowse link 12 88,049,013 88,142,216 RGD:7246903
RGD:8554872
RGD:7240710
RGD:11537352
Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM67 transmembrane protein 67 JBrowse link 8 93,754,844 93,832,653 RGD:11072184
RGD:8554872
RGD:7240710
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPGRIP1 RPGR interacting protein 1 JBrowse link 14 21,287,977 21,351,316 RGD:8554872
G RPGRIP1L RPGRIP1 like JBrowse link 16 53,598,153 53,703,938 RGD:11537350
RGD:8554872
RGD:7240710
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1A interleukin 1 alpha JBrowse link 2 112,773,925 112,784,493 RGD:11554173
G IL1B interleukin 1 beta JBrowse link 2 112,829,751 112,836,843 RGD:11554173
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 8,527 9,207 RGD:8554872
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 8,366 8,572 RGD:8554872
G MT-CO3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 9,207 9,990 RGD:8554872
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 10,059 10,404 RGD:8554872
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,760 12,137 RGD:8554872
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L JBrowse link MT 10,470 10,766 RGD:8554872
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 12,337 14,148 RGD:8554872
G MT-TG mitochondrially encoded tRNA-Gly (GGN) JBrowse link MT 9,991 10,058 RGD:8554872
G MT-TH mitochondrially encoded tRNA-His (CAU/C) JBrowse link MT 12,138 12,206 RGD:8554872
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 JBrowse link MT 3,230 3,304 RGD:8554872
G MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 JBrowse link MT 12,266 12,336 RGD:8554872
G MT-TR mitochondrially encoded tRNA-Arg (CGN) JBrowse link MT 10,405 10,469 RGD:8554872
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 JBrowse link MT 12,207 12,265 RGD:8554872
G MT-TY mitochondrially encoded tRNA-Tyr (UAU/C) JBrowse link MT 5,826 5,891 RGD:8554872
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 4 23,792,021 24,472,905 RGD:7241824
G TFAM transcription factor A, mitochondrial JBrowse link 10 58,385,143 58,399,230 RGD:13592920
Leber hereditary optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOA4 apolipoprotein A4 JBrowse link 11 116,820,700 116,823,304 RGD:5685659
G EPHX1 epoxide hydrolase 1 JBrowse link 1 225,810,124 225,845,563 RGD:5688732
G IL1A interleukin 1 alpha JBrowse link 2 112,773,925 112,784,493 RGD:11554173
G IL1B interleukin 1 beta JBrowse link 2 112,829,751 112,836,843 RGD:11554173
G LRAT lecithin retinol acyltransferase JBrowse link 4 154,740,841 154,753,120 RGD:11554173
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 8,527 9,207 RGD:5490293
RGD:8554872
RGD:11554173
RGD:5508187
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,904 7,445 RGD:8554872
G MT-CO3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 9,207 9,990 RGD:11554173
RGD:8554872
G MT-CYB mitochondrially encoded cytochrome b JBrowse link MT 14,747 15,887 RGD:8554872
RGD:11554173
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,307 4,262 RGD:5508685
RGD:8554872
RGD:11554173
RGD:8657118
RGD:8657116
RGD:5508712
RGD:5508689
RGD:5508187
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 JBrowse link MT 4,470 5,511 RGD:5508187
RGD:11554173
RGD:8554872
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 10,059 10,404 RGD:5508703
RGD:8554872
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,760 12,137 RGD:1581057
RGD:8554872
RGD:11554173
RGD:5508187
RGD:5507829
RGD:5491183
RGD:1581058
RGD:1581059
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L JBrowse link MT 10,470 10,766 RGD:5686339
RGD:8554872
RGD:11554173
RGD:5686341
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 12,337 14,148 RGD:1581060
RGD:8554872
RGD:11554173
RGD:5507826
RGD:5491202
RGD:5491183
RGD:5491172
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 14,149 14,673 RGD:8657119
RGD:8554872
RGD:11554173
RGD:8657127
RGD:8657125
RGD:8657123
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 JBrowse link MT 3,230 3,304 RGD:8554872
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 JBrowse link MT 7,446 7,514 RGD:8554872
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 1 161,197,417 161,214,395 RGD:8554872
G PARL presenilin associated rhomboid like JBrowse link 3 183,826,488 183,884,901 RGD:12902617
RGD:12902618
G RDH12 retinol dehydrogenase 12 JBrowse link 14 67,701,886 67,734,451 RGD:1599415
G RPE65 retinoid isomerohydrolase RPE65 JBrowse link 1 68,428,822 68,450,322 RGD:11554173
G RPGRIP1 RPGR interacting protein 1 JBrowse link 14 21,287,977 21,351,316 RGD:1599580
G SOD2 superoxide dismutase 2 JBrowse link 6 159,669,069 159,762,281 RGD:8158101
RGD:8158104
G TP53 tumor protein p53 JBrowse link 17 7,668,402 7,687,550 RGD:5688732
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 10,059 10,404 RGD:8554872
Leber plus disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 20 13,785,026 13,821,580 RGD:8554872
low tension glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB1 adrenoceptor beta 1 JBrowse link 10 114,043,866 114,046,904 RGD:8548468
G APOE apolipoprotein E JBrowse link 19 44,905,796 44,909,395 RGD:7495800
G BDNF brain derived neurotrophic factor JBrowse link 11 27,654,893 27,722,030 RGD:8655604
G CAV1 caveolin 1 JBrowse link 7 116,525,009 116,561,185 RGD:8661774
G CAV2 caveolin 2 JBrowse link 7 116,499,738 116,508,541 RGD:8661774
G CRP C-reactive protein JBrowse link 1 159,712,289 159,714,589 RGD:9491770
RGD:9491771
G EDN1 endothelin 1 JBrowse link 6 12,256,463 12,297,194 RGD:8661736
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 2 197,486,584 197,500,274 RGD:10402863
G MYOC myocilin JBrowse link 1 171,635,417 171,652,688 RGD:7771548
G OPTN optineurin JBrowse link 10 13,100,082 13,138,308 RGD:7771548
RGD:7775043
RGD:7775041
G SLC1A1 solute carrier family 1 member 1 JBrowse link 9 4,490,466 4,587,469 RGD:11554173
G SLC1A3 solute carrier family 1 member 3 JBrowse link 5 36,606,355 36,688,334 RGD:13592920
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,693 31,668,931 RGD:8655579
RGD:13592920
G TLR4 toll like receptor 4 JBrowse link 9 117,704,403 117,724,735 RGD:7794768
RGD:7794769
G TNF tumor necrosis factor JBrowse link 6 31,575,565 31,578,336 RGD:7775041
G TP53 tumor protein p53 JBrowse link 17 7,668,402 7,687,550 RGD:7387247
macular retinal edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOH apolipoprotein H JBrowse link 17 66,212,033 66,229,415 RGD:2315548
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 34,255,285 34,257,203 RGD:2306981
RGD:7829760
G CLU clusterin JBrowse link 8 27,596,917 27,614,700 RGD:9068396
G EPO erythropoietin JBrowse link 7 100,720,468 100,723,700 RGD:10400883
G FGF2 fibroblast growth factor 2 JBrowse link 4 122,826,708 122,898,236 RGD:8655594
G FLT1 fms related receptor tyrosine kinase 1 JBrowse link 13 28,300,346 28,495,128 RGD:10402117
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:7829760
G KDR kinase insert domain receptor JBrowse link 4 55,078,481 55,125,595 RGD:8549772
G NDP norrin cystine knot growth factor NDP JBrowse link X 43,948,776 43,973,390 RGD:11554173
G NOS3 nitric oxide synthase 3 JBrowse link 7 150,991,017 151,014,588 RGD:7775044
G SERPINF1 serpin family F member 1 JBrowse link 17 1,761,925 1,777,574 RGD:8554903
RGD:8655546
G VEGFA vascular endothelial growth factor A JBrowse link 6 43,770,209 43,786,487 RGD:8549772
RGD:11554173
RGD:8655594
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 6 107,490,104 107,661,306 RGD:8554872
RGD:7240710
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZC4H2 zinc finger C4H2-type containing JBrowse link X 64,915,802 65,034,741 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 19 38,433,691 38,587,564 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGME1 mitochondrial genome maintenance exonuclease 1 JBrowse link 20 17,968,594 17,991,122 RGD:8554872
RGD:7240710
Mobius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 JBrowse link 11 130,404,923 130,428,609 RGD:8554872
G AL354696.2 novel transcript, antisense to KBTBD7 and MTRF1 JBrowse link 13 41,132,928 41,236,686 RGD:8554872
G AMH anti-Mullerian hormone JBrowse link 19 2,249,323 2,252,073 RGD:8554872
G BCDIN3D BCDIN3 domain containing RNA methyltransferase JBrowse link 12 49,836,043 49,843,106 RGD:8554872
G CDH11 cadherin 11 JBrowse link 16 64,943,753 65,126,112 RGD:8554872
G EBF3 EBF transcription factor 3 JBrowse link 10 129,835,233 129,964,274 RGD:8554872
G FAM71A family with sequence similarity 71 member A JBrowse link 1 212,624,474 212,626,775 RGD:8554872
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 2 196,194,072 196,593,692 RGD:8554872
G HSPB7 heat shock protein family B (small) member 7 JBrowse link 1 16,014,029 16,019,594 RGD:8554872
G INTS6L integrator complex subunit 6 like JBrowse link X 135,520,630 135,582,537 RGD:8554872
G KBTBD7 kelch repeat and BTB domain containing 7 JBrowse link 13 41,189,834 41,194,569 RGD:8554872
G MRPL28 mitochondrial ribosomal protein L28 JBrowse link 16 366,969 370,538 RGD:8554872
G NPIPA5 nuclear pore complex interacting protein family member A5 JBrowse link 16 15,363,613 15,381,467 RGD:8554872
G PLCB2 phospholipase C beta 2 JBrowse link 15 40,285,496 40,307,945 RGD:8554872
G PTCH2 patched 2 JBrowse link 1 44,819,844 44,843,253 RGD:8554872
G SIM1 SIM bHLH transcription factor 1 JBrowse link 6 100,385,009 100,464,929 RGD:8554872
G ZNF787 zinc finger protein 787 JBrowse link 19 56,087,366 56,121,295 RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SEC31A SEC31 homolog A, COPII coat complex component JBrowse link 4 82,818,509 82,900,571 RGD:8554872
RGD:7240710
neurofibromatosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NF2 neurofibromin 2 JBrowse link 22 29,603,556 29,698,600 RGD:8554872
RGD:11554173
RGD:7240710
G VEGFA vascular endothelial growth factor A JBrowse link 6 43,770,209 43,786,487 RGD:8547955
RGD:8547957
neuromyelitis optica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP4 aquaporin 4 JBrowse link 18 26,852,038 26,865,803 RGD:5148024
RGD:11554173
RGD:8696034
RGD:8696033
RGD:8696032
RGD:8696026
RGD:8695993
RGD:5148032
G CD59 CD59 molecule (CD59 blood group) JBrowse link 11 33,703,010 33,736,479 RGD:13792592
G GFAP glial fibrillary acidic protein JBrowse link 17 44,903,159 44,915,552 RGD:11554173
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 JBrowse link 6 32,659,467 32,666,657 RGD:7421588
RGD:11530523
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 JBrowse link 6 32,578,769 32,589,836 RGD:5147590
RGD:11530523
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:7829722
G MBP myelin basic protein JBrowse link 18 76,978,833 77,133,708 RGD:11554173
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:8547883
G NEFH neurofilament heavy JBrowse link 22 29,480,218 29,491,390 RGD:27226805
G S100B S100 calcium binding protein B JBrowse link 21 46,598,604 46,605,243 RGD:5508767
non-arteritic anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACE angiotensin I converting enzyme JBrowse link 17 63,477,061 63,498,373 RGD:8548899
G CRP C-reactive protein JBrowse link 1 159,712,289 159,714,589 RGD:9491785
G F5 coagulation factor V JBrowse link 1 169,511,951 169,586,630 RGD:7394764
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 17 4,932,277 4,935,023 RGD:8554872
RGD:11554173
RGD:7240710
G ITGB3 integrin subunit beta 3 JBrowse link 17 47,253,827 47,313,743 RGD:8693343
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,785,723 11,806,103 RGD:8693343
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELP4 elongator acetyltransferase complex subunit 4 JBrowse link 11 31,509,767 31,790,324 RGD:8554872
G PAX6 paired box 6 JBrowse link 11 31,789,026 31,817,961 RGD:8554872
RGD:7240710
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGM6 transglutaminase 6 JBrowse link 20 2,380,901 2,432,753 RGD:8554872
Oculomotor Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 9 84,668,458 85,027,070 RGD:5684341
olfactory neuroblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 14 61,695,513 61,748,259 RGD:8694471
ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGME1 mitochondrial genome maintenance exonuclease 1 JBrowse link 20 17,968,594 17,991,122 RGD:11554173
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,904 7,445 RGD:8554872
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) JBrowse link MT 5,657 5,729 RGD:8554872
G MYF5 myogenic factor 5 JBrowse link 12 80,716,912 80,719,671 RGD:8554872
G NPC1 NPC intracellular cholesterol transporter 1 JBrowse link 18 23,506,184 23,586,506 RGD:11554173
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POMC proopiomelanocortin JBrowse link 2 25,160,853 25,168,851 RGD:11554173
optic atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 12,328,944 12,377,309 RGD:8554872
G CYRIA CYFIP related Rac1 interactor A JBrowse link 2 16,549,459 16,665,834 RGD:8554872
G DDX1 DEAD-box helicase 1 JBrowse link 2 15,591,868 15,631,101 RGD:8554872
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:11554173
G MECR mitochondrial trans-2-enoyl-CoA reductase JBrowse link 1 29,192,657 29,230,948 RGD:8554872
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,904 7,445 RGD:8554872
G MYCN MYCN proto-oncogene, bHLH transcription factor JBrowse link 2 15,940,550 15,947,004 RGD:8554872
G MYCNOS MYCN opposite strand JBrowse link 2 15,936,265 15,942,433 RGD:8554872
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 11 47,579,074 47,584,562 RGD:11554173
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 1 9,942,923 9,996,884 RGD:11554173
G OAT ornithine aminotransferase JBrowse link 10 124,397,303 124,418,976 RGD:8554872
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,149 193,697,811 RGD:7800714
RGD:8554872
RGD:13592920
G RPL24 ribosomal protein L24 JBrowse link 3 101,681,091 101,686,718 RGD:13592920
G SLBP stem-loop binding protein JBrowse link 4 1,692,731 1,715,876 RGD:11554173
G SLC25A46 solute carrier family 25 member 46 JBrowse link 5 110,738,145 110,765,157 RGD:11554173
G TBCD tubulin folding cofactor D JBrowse link 17 82,752,048 82,945,914 RGD:11554173
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,260,368 6,303,265 RGD:8694404
optic atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,149 193,697,811 RGD:7800686
RGD:8554872
RGD:11554173
RGD:7240710
RGD:7800716
RGD:7800715
RGD:7800709
RGD:7800708
RGD:7800706
RGD:7800704
RGD:7800699
G OPA1-AS1 OPA1 antisense RNA 1 JBrowse link 3 193,618,599 193,627,332 RGD:8554872
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 45,527,427 45,584,802 RGD:8554872
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,260,368 6,303,265 RGD:7800683
optic atrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RTN4IP1 reticulon 4 interacting protein 1 JBrowse link 6 106,559,237 106,630,921 RGD:8554872
RGD:7240710
optic atrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G YME1L1 YME1 like 1 ATPase JBrowse link 10 27,110,111 27,155,051 RGD:8554872
RGD:7240710
optic atrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 45,527,427 45,584,802 RGD:8554872
RGD:7240710
optic atrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:8554872
RGD:7240710
G YARS2 tyrosyl-tRNA synthetase 2 JBrowse link 12 32,725,247 32,756,458 RGD:8554872
optic atrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM126A transmembrane protein 126A JBrowse link 11 85,647,919 85,656,553 RGD:8554872
RGD:7240710
optic atrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACO2 aconitase 2 JBrowse link 22 41,468,756 41,528,979 RGD:8554872
RGD:7240710
G GREB1L GREB1 like retinoic acid receptor coactivator JBrowse link 18 21,242,225 21,528,503 RGD:8554872
G POLR3H RNA polymerase III subunit H JBrowse link 22 41,525,799 41,544,606 RGD:8554872
Optic Nerve Aplasia, Bilateral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAX6 paired box 6 JBrowse link 11 31,789,026 31,817,961 RGD:8554872
optic nerve disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGER advanced glycosylation end-product specific receptor JBrowse link 6 32,180,968 32,184,380 RGD:8695971
G EDN1 endothelin 1 JBrowse link 6 12,256,463 12,297,194 RGD:8661688
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 16 75,627,724 75,647,665 RGD:8554872
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 8,527 9,207 RGD:8554872
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 8,366 8,572 RGD:8554872
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,307 4,262 RGD:8554872
G PAX6 paired box 6 JBrowse link 11 31,789,026 31,817,961 RGD:11554173
optic nerve glioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CX3CR1 C-X3-C motif chemokine receptor 1 JBrowse link 3 39,263,494 39,281,735 RGD:9491391
G NF1 neurofibromin 1 JBrowse link 17 31,094,927 31,377,677 RGD:12789442
RGD:8554872
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOX2 SRY-box transcription factor 2 JBrowse link 3 181,711,925 181,714,436 RGD:8554872
G SOX2-OT SOX2 overlapping transcript JBrowse link 3 181,056,680 181,742,228 RGD:8554872
Optic Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP activity dependent neuroprotector homeobox JBrowse link 20 50,888,918 50,931,437 RGD:2312783
G AMIGO3 adhesion molecule with Ig like domain 3 JBrowse link 3 49,716,829 49,719,684 RGD:14390159
G AQP4 aquaporin 4 JBrowse link 18 26,852,038 26,865,803 RGD:2326035
G AQP9 aquaporin 9 JBrowse link 15 58,138,169 58,185,911 RGD:2326035
G ARG2 arginase 2 JBrowse link 14 67,619,920 67,651,708 RGD:11554173
G ATF2 activating transcription factor 2 JBrowse link 2 175,072,250 175,168,206 RGD:10047417
G BAX BCL2 associated X, apoptosis regulator JBrowse link 19 48,954,825 48,961,798 RGD:10054098
G BCL2 BCL2 apoptosis regulator JBrowse link 18 63,123,346 63,320,280 RGD:10054098
G BDNF brain derived neurotrophic factor JBrowse link 11 27,654,893 27,722,030 RGD:8655584
RGD:8655637
RGD:8655586
G C3 complement C3 JBrowse link 19 6,677,704 6,720,650 RGD:5129542
G CDK2 cyclin dependent kinase 2 JBrowse link 12 55,966,830 55,972,789 RGD:9068941
G CFL1 cofilin 1 JBrowse link 11 65,854,673 65,858,180 RGD:11568693
G CLU clusterin JBrowse link 8 27,596,917 27,614,700 RGD:5129542
G CSF3 colony stimulating factor 3 JBrowse link 17 40,015,440 40,017,813 RGD:11039471
G CTSB cathepsin B JBrowse link 8 11,842,524 11,868,118 RGD:2315508
G EDN1 endothelin 1 JBrowse link 6 12,256,463 12,297,194 RGD:4892579
G EDNRA endothelin receptor type A JBrowse link 4 147,480,917 147,544,954 RGD:4892579
G EDNRB endothelin receptor type B JBrowse link 13 77,895,481 77,975,527 RGD:4892579
G EP300 E1A binding protein p300 JBrowse link 22 41,092,592 41,180,077 RGD:7349392
G FGF2 fibroblast growth factor 2 JBrowse link 4 122,826,708 122,898,236 RGD:8554854
G GDNF glial cell derived neurotrophic factor JBrowse link 5 37,812,677 37,840,044 RGD:6218970
G GFRA1 GDNF family receptor alpha 1 JBrowse link 10 116,056,925 116,274,705 RGD:6218970
G GFRA2 GDNF family receptor alpha 2 JBrowse link 8 21,690,398 21,789,296 RGD:6218970
G HGF hepatocyte growth factor JBrowse link 7 81,699,006 81,770,438 RGD:8548549
G IGF1R insulin like growth factor 1 receptor JBrowse link 15 98,648,539 98,964,530 RGD:5686431
RGD:10046025
G JUN Jun proto-oncogene, AP-1 transcription factor subunit JBrowse link 1 58,780,791 58,784,047 RGD:10047417
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 1 160,037,467 160,070,160 RGD:2326035
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,904 7,445 RGD:8662362
G NAMPT nicotinamide phosphoribosyltransferase JBrowse link 7 106,248,298 106,284,983 RGD:13781885
G NEFM neurofilament medium JBrowse link 8 24,913,761 24,919,093 RGD:9743936
G NEO1 neogenin 1 JBrowse link 15 73,051,715 73,305,206 RGD:9850142
G NGFR nerve growth factor receptor JBrowse link 17 49,495,293 49,515,008 RGD:5508695
G NTRK1 neurotrophic receptor tyrosine kinase 1 JBrowse link 1 156,815,750 156,881,850 RGD:5508695
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 9 84,668,458 85,027,070 RGD:5684908
G PAWR pro-apoptotic WT1 regulator JBrowse link 12 79,584,874 79,691,097 RGD:1299297
G PAX6 paired box 6 JBrowse link 11 31,789,026 31,817,961 RGD:8552379
G PDGFB platelet derived growth factor subunit B JBrowse link 22 39,223,359 39,244,982 RGD:10449496
G PECAM1 platelet and endothelial cell adhesion molecule 1 JBrowse link 17 64,319,415 64,413,844 RGD:6767293
G PLAU plasminogen activator, urokinase JBrowse link 10 73,909,182 73,917,497 RGD:6483802
G PTPN5 protein tyrosine phosphatase non-receptor type 5 JBrowse link 11 18,727,928 18,792,721 RGD:9835027
G RHOA ras homolog family member A JBrowse link 3 49,359,145 49,411,976 RGD:1642826
G SNW1 SNW domain containing 1 JBrowse link 14 77,717,599 77,761,156 RGD:11035254
G TLR4 toll like receptor 4 JBrowse link 9 117,704,403 117,724,735 RGD:7794777
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,328,771 6,342,076 RGD:7794683
RGD:8661743
G TRADD TNFRSF1A associated via death domain JBrowse link 16 67,154,185 67,159,909 RGD:7794683
G YBX3 Y-box binding protein 3 JBrowse link 12 10,699,084 10,723,442 RGD:2311250
optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP4 aquaporin 4 JBrowse link 18 26,852,038 26,865,803 RGD:8696036
RGD:9685553
G CAPN1 calpain 1 JBrowse link 11 65,181,373 65,212,006 RGD:11554173
G CAT catalase JBrowse link 11 34,438,934 34,472,060 RGD:9068881
G CCR5 C-C motif chemokine receptor 5 JBrowse link 3 46,370,142 46,376,206 RGD:8551840
G CSPG4 chondroitin sulfate proteoglycan 4 JBrowse link 15 75,674,322 75,712,848 RGD:5686855
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 109,687,817 109,693,745 RGD:5148007
G GSTT1 glutathione S-transferase theta 1 RGD:5148007
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 JBrowse link 6 32,659,467 32,666,657 RGD:7483596
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 JBrowse link 6 32,578,769 32,589,836 RGD:7365050
G MOG myelin oligodendrocyte glycoprotein JBrowse link 6 29,657,092 29,672,365 RGD:9685553
RGD:9685554
G NEFH neurofilament heavy JBrowse link 22 29,480,218 29,491,390 RGD:27226813
RGD:27226814
G SOD2 superoxide dismutase 2 JBrowse link 6 159,669,069 159,762,281 RGD:8158052
pathologic nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP290 centrosomal protein 290 JBrowse link 12 88,049,013 88,142,216 RGD:8554872
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 8 86,573,608 86,743,675 RGD:8554872
G COL18A1 collagen type XVIII alpha 1 chain JBrowse link 21 45,405,165 45,513,720 RGD:8554872
G GNB1 G protein subunit beta 1 JBrowse link 1 1,785,285 1,891,117 RGD:8554872
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,725,346 9,786,260 RGD:8554872
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 17 8,002,615 8,020,342 RGD:8554872
G NDP norrin cystine knot growth factor NDP JBrowse link X 43,948,776 43,973,390 RGD:8554872
G NDP-AS1 NDP antisense RNA 1 JBrowse link X 43,949,732 43,971,552 RGD:8554872
G RPGRIP1 RPGR interacting protein 1 JBrowse link 14 21,287,977 21,351,316 RGD:11554173
G SLC19A1 solute carrier family 19 member 1 JBrowse link 21 45,502,517 45,563,140 RGD:8554872
G TFAP2A transcription factor AP-2 alpha JBrowse link 6 10,396,677 10,420,060 RGD:8554872
G TMEM67 transmembrane protein 67 JBrowse link 8 93,754,844 93,832,653 RGD:8554872
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8554872
PEHO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC88A coiled-coil domain containing 88A JBrowse link 2 55,287,817 55,419,856 RGD:8554872
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:8548849
G KIF1A kinesin family member 1A JBrowse link 2 240,713,767 240,821,403 RGD:8554872
G ZNHIT3 zinc finger HIT-type containing 3 JBrowse link 17 36,486,627 36,499,312 RGD:7240710
RGD:8554872
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBCE tubulin folding cofactor E JBrowse link 1 235,367,360 235,452,443 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCI FA complementation group I JBrowse link 15 89,243,973 89,317,259 RGD:8554872
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,320 89,334,824 RGD:8554872
RGD:11554173
G TWNK twinkle mtDNA helicase JBrowse link 10 100,987,543 100,994,403 RGD:8554872
Progressive External Ophthalmoplegia with Myoclonus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) JBrowse link MT 8,295 8,364 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 2 88,556,740 88,627,464 RGD:11554173
G MAP2K6 mitogen-activated protein kinase kinase 6 JBrowse link 17 69,414,697 69,553,865 RGD:7495833
G MAPT microtubule associated protein tau JBrowse link 17 45,894,382 46,028,334 RGD:8158095
RGD:8554872
RGD:11554173
RGD:7240710
RGD:8158100
RGD:8158099
G MOBP myelin associated oligodendrocyte basic protein JBrowse link 3 39,467,680 39,529,497 RGD:11554173
G NAT2 N-acetyltransferase 2 JBrowse link 8 18,386,585 18,401,219 RGD:8552652
G OGG1 8-oxoguanine DNA glycosylase JBrowse link 3 9,749,944 9,788,246 RGD:8657142
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,693 31,668,931 RGD:8655859
G SRSF2 serine and arginine rich splicing factor 2 JBrowse link 17 76,734,115 76,737,411 RGD:11554173
G STX6 syntaxin 6 JBrowse link 1 180,972,712 181,023,121 RGD:11554173
G TARDBP TAR DNA binding protein JBrowse link 1 11,012,654 11,030,528 RGD:5687185
G TRA2B transformer 2 beta homolog JBrowse link 3 185,914,558 185,938,027 RGD:11554173
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAPT microtubule associated protein tau JBrowse link 17 45,894,382 46,028,334 RGD:7240710
Senior-Loken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT3 AKT serine/threonine kinase 3 JBrowse link 1 243,488,233 243,851,079 RGD:8554872
G C12orf29 chromosome 12 open reading frame 29 JBrowse link 12 88,035,536 88,050,160 RGD:8554872
G CEP290 centrosomal protein 290 JBrowse link 12 88,049,013 88,142,216 RGD:8554872
RGD:13592920
G IQCB1 IQ motif containing B1 JBrowse link 3 121,769,761 121,835,079 RGD:8554872
RGD:13592920
G NPHP1 nephrocystin 1 JBrowse link 2 110,123,348 110,205,013 RGD:11554173
G NPHP4 nephrocystin 4 JBrowse link 1 5,862,810 5,992,425 RGD:8554872
RGD:13592920
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 1 243,255,418 243,503,683 RGD:8554872
RGD:13592920
G TMEM218 transmembrane protein 218 JBrowse link 11 125,094,389 125,111,759 RGD:13592920
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2 165,873,362 165,953,781 RGD:8554872
G TTC21B-AS1 TTC21B antisense RNA 1 JBrowse link 2 165,933,857 165,948,321 RGD:8554872
G WDR19 WD repeat domain 19 JBrowse link 4 39,182,473 39,285,810 RGD:11552600
Senior-Loken Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP1 nephrocystin 1 JBrowse link 2 110,123,348 110,205,013 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP3 nephrocystin 3 JBrowse link 3 132,680,609 132,722,409 RGD:7240710
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP4 nephrocystin 4 JBrowse link 1 5,862,810 5,992,425 RGD:8554872
RGD:7240710
Senior-Loken Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IQCB1 IQ motif containing B1 JBrowse link 3 121,769,761 121,835,079 RGD:11537383
RGD:8554872
RGD:7240710
Senior-Loken Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C12orf29 chromosome 12 open reading frame 29 JBrowse link 12 88,035,536 88,050,160 RGD:8554872
G CEP290 centrosomal protein 290 JBrowse link 12 88,049,013 88,142,216 RGD:8554872
RGD:7240710
Senior-Loken Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT3 AKT serine/threonine kinase 3 JBrowse link 1 243,488,233 243,851,079 RGD:8554872
G CEP170 centrosomal protein 170 JBrowse link 1 243,124,428 243,255,796 RGD:8554872
G LINC01347 long intergenic non-protein coding RNA 1347 JBrowse link 1 243,056,314 243,101,744 RGD:8554872
G MIR4677 microRNA 4677 JBrowse link 1 243,346,176 243,346,255 RGD:8554872
G PLD5 phospholipase D family member 5 JBrowse link 1 242,082,986 242,530,546 RGD:8554872
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 1 243,255,418 243,503,683 RGD:8554872
RGD:7240710
Senior-Loken Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR19 WD repeat domain 19 JBrowse link 4 39,182,473 39,285,810 RGD:8554872
RGD:7240710
Senior-Loken Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 2 238,320,489 238,400,900 RGD:8554872
RGD:7240710
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA2 ATP binding cassette subfamily A member 2 JBrowse link 9 137,007,234 137,028,922 RGD:8554872
G FANCI FA complementation group I JBrowse link 15 89,243,973 89,317,259 RGD:8554872
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,320 89,334,824 RGD:8694282
RGD:8554872
RGD:11554173
RGD:7240710
RGD:8694285
G PRICKLE2 prickle planar cell polarity protein 2 JBrowse link 3 64,092,236 64,445,476 RGD:8554872
G PRICKLE2-AS1 PRICKLE2 antisense RNA 1 JBrowse link 3 64,067,964 64,103,131 RGD:8554872
G PRICKLE2-AS3 PRICKLE2 antisense RNA 3 JBrowse link 3 64,187,544 64,201,561 RGD:8554872
G TWNK twinkle mtDNA helicase JBrowse link 10 100,987,543 100,994,403 RGD:8554872
RGD:11554173
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NBAS NBAS subunit of NRZ tethering complex JBrowse link 2 14,998,067 15,561,344 RGD:8554872
RGD:7240710
spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 12,328,944 12,377,309 RGD:11532672
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 19 13,206,442 13,506,479 RGD:8554872
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 5 140,673,904 140,691,727 RGD:8554872
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 17 4,988,130 5,006,093 RGD:8554872
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 10 76,869,601 77,637,969 RGD:8554872
G KIF1C kinesin family member 1C JBrowse link 17 4,997,950 5,028,401 RGD:8554872
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,508,379 89,557,768 RGD:8554872
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAPBPL TAP binding protein like JBrowse link 12 6,451,656 6,472,006 RGD:8554872
G VAMP1 vesicle associated membrane protein 1 JBrowse link 12 6,462,237 6,470,677 RGD:7240710
RGD:8554872
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C17orf107 chromosome 17 open reading frame 107 JBrowse link 17 4,899,536 4,902,934 RGD:8554872
G CAMTA2 calmodulin binding transcription activator 2 JBrowse link 17 4,967,993 4,988,281 RGD:8554872
G CHRNE cholinergic receptor nicotinic epsilon subunit JBrowse link 17 4,897,771 4,905,019 RGD:8554872
G ENO3 enolase 3 JBrowse link 17 4,949,182 4,957,131 RGD:8554872
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 17 4,932,277 4,935,023 RGD:8554872
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 17 4,988,130 5,006,093 RGD:8554872
G KIF1C kinesin family member 1C JBrowse link 17 4,997,950 5,028,401 RGD:8554872
RGD:7240710
G PFN1 profilin 1 JBrowse link 17 4,945,652 4,948,530 RGD:8554872
G RNF167 ring finger protein 167 JBrowse link 17 4,940,092 4,945,222 RGD:8554872
G SLC25A11 solute carrier family 25 member 11 JBrowse link 17 4,937,130 4,940,251 RGD:8554872
G SPAG7 sperm associated antigen 7 JBrowse link 17 4,959,226 4,967,817 RGD:8554872
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARS2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 2 197,705,369 197,708,395 RGD:8554872
RGD:7240710
G SACS sacsin molecular chaperone JBrowse link 13 23,328,827 23,433,728 RGD:8554872
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTPAP mitochondrial poly(A) polymerase JBrowse link 10 30,309,801 30,349,278 RGD:8554872
RGD:7240710
spastic ataxia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 12,328,944 12,377,309 RGD:8554872
RGD:7240710
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX6-2 NK6 homeobox 2 JBrowse link 10 132,782,229 132,786,147 RGD:7240710
RGD:8554872
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHP1 calcineurin like EF-hand protein 1 JBrowse link 15 41,231,156 41,281,887 RGD:7240710
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 2 8,721,081 8,837,613 RGD:8554872
RGD:7240710
SPOAN syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLC2 kinesin light chain 2 JBrowse link 11 66,257,294 66,267,861 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 1 246,839,098 246,931,948 RGD:8554872
G BMP4 bone morphogenetic protein 4 JBrowse link 14 53,949,736 53,956,891 RGD:8699500
G FOXP1 forkhead box P1 JBrowse link 3 70,954,708 71,583,983 RGD:8554872
G GNB1 G protein subunit beta 1 JBrowse link 1 1,785,285 1,891,117 RGD:8554872
G MED13L mediator complex subunit 13L JBrowse link 12 115,958,576 116,277,693 RGD:8554872
G NF1 neurofibromin 1 JBrowse link 17 31,094,927 31,377,677 RGD:8554872
G SIL1 SIL1 nucleotide exchange factor JBrowse link 5 138,946,724 139,198,368 RGD:8554872
G SOX5 SRY-box transcription factor 5 JBrowse link 12 23,529,499 24,562,701 RGD:8554872
Trigeminal Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP53 tumor protein p53 JBrowse link 17 7,668,402 7,687,550 RGD:8547771
trigeminal neuralgia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIF1 allograft inflammatory factor 1 JBrowse link 6 31,615,212 31,617,015 RGD:11554173
G CALCA calcitonin related polypeptide alpha JBrowse link 11 14,966,668 14,972,361 RGD:11554173
G CDK5 cyclin dependent kinase 5 JBrowse link 7 151,053,815 151,057,897 RGD:13782378
G CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 JBrowse link 17 32,485,028 32,491,256 RGD:13782378
G FOS Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 14 75,278,828 75,282,230 RGD:11554173
G GFAP glial fibrillary acidic protein JBrowse link 17 44,903,159 44,915,552 RGD:11554173
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 9 137,139,092 137,168,759 RGD:11554173
G IL1B interleukin 1 beta JBrowse link 2 112,829,751 112,836,843 RGD:11554173
G MAPK1 mitogen-activated protein kinase 1 JBrowse link 22 21,759,657 21,867,680 RGD:11554173
G MAPK3 mitogen-activated protein kinase 3 JBrowse link 16 30,114,105 30,123,309 RGD:11554173
G MAPK8 mitogen-activated protein kinase 8 JBrowse link 10 48,306,639 48,439,360 RGD:11554173
G MAPK9 mitogen-activated protein kinase 9 JBrowse link 5 180,233,143 180,292,083 RGD:11554173
G MIR125A microRNA 125a JBrowse link 19 51,693,254 51,693,339 RGD:26884456
G PRKCG protein kinase C gamma JBrowse link 19 53,882,197 53,907,652 RGD:11554173
G TNF tumor necrosis factor JBrowse link 6 31,575,565 31,578,336 RGD:11554173
vestibular neuronitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRP C-reactive protein JBrowse link 1 159,712,289 159,714,589 RGD:9491594
Vestibulocochlear Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB2 adrenoceptor beta 2 JBrowse link 5 148,826,611 148,828,623 RGD:8548530
Warburg micro syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB18 RAB18, member RAS oncogene family JBrowse link 10 27,504,304 27,542,239 RGD:8554872
RGD:11554173
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 2 135,052,281 135,176,667 RGD:8554872
RGD:11554173
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 1 220,148,293 220,272,453 RGD:8554872
RGD:11554173
G TBC1D20 TBC1 domain family member 20 JBrowse link 20 435,480 462,543 RGD:11554173
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 2 135,164,218 135,531,218 RGD:8554872
Warburg micro syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 2 135,052,281 135,176,667 RGD:8554872
RGD:7240710
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 2 135,164,218 135,531,218 RGD:8554872
Warburg micro syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 1 220,148,293 220,272,453 RGD:8554872
RGD:7240710
Warburg micro syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB18 RAB18, member RAS oncogene family JBrowse link 10 27,504,304 27,542,239 RGD:8554872
RGD:7240710
Warburg micro syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBC1D20 TBC1 domain family member 20 JBrowse link 20 435,480 462,543 RGD:8554872
RGD:7240710
Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,307 4,262 RGD:5490247
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,260,368 6,303,265 RGD:1599813
RGD:8554872
RGD:11554173
Wolfram syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,260,368 6,303,265 RGD:7240710
RGD:8554872
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CISD2 CDGSH iron sulfur domain 2 JBrowse link 4 102,868,992 102,892,807 RGD:10045601
RGD:8554872
RGD:11554173
RGD:7240710
RGD:10045603
G SLC9B1 solute carrier family 9 member B1 JBrowse link 4 102,885,049 103,019,705 RGD:8554872
X-linked deafness 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 130,129,362 130,165,887 RGD:8554872
RGD:7240710
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 130,110,633 130,184,873 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 17,375,200 17,735,994 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17649
    disease of anatomical entity 16248
      nervous system disease 12510
        peripheral nervous system disease 2500
          neuropathy 2324
            cranial nerve disease 420
              Cranial Nerve Injuries + 74
              Cranial Nerves, Congenital Paresis of 0
              Cranial Nerves, Recurrent Paresis of 0
              Ophthalmoplegic Migraine 0
              Vagus nerve disease + 26
              accessory nerve disease + 0
              cranial nerve neoplasm + 15
              cranial nerve palsy + 0
              facial nerve disease + 50
              glossopharyngeal nerve disease + 46
              hypoglossal nerve disease + 19
              jaw-winking syndrome 0
              ocular motility disease + 131
              olfactory nerve disease + 1
              optic nerve disease + 219
              third cranial nerve disease + 2
              trigeminal nerve disease + 16
              trochlear nerve disease + 0
              vestibulocochlear nerve disease + 18
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.