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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 6 51,917,956 51,967,624 RGD:7240710
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COLEC11 collectin subfamily member 11 JBrowse link 3 131,226,941 131,254,555 RGD:7240710
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 13 124,938,469 125,028,440 RGD:9068941
G SLC26A2 solute carrier family 26 member 2 JBrowse link 2 150,996,868 151,027,483 RGD:9068941
acoustic neuroma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARTN artemin JBrowse link 6 167,356,363 167,361,370 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 2 32,623,668 32,679,293 RGD:9068941
G CAV1 caveolin 1 JBrowse link 18 29,648,120 29,682,451 RGD:9068941
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 7 32,354,776 32,363,771 RGD:9068941
G CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 JBrowse link 14 141,690,737 141,703,078 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 6 51,734,318 51,757,508 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 15 48,053,895 48,106,634 RGD:9068941
G GDNF glial cell derived neurotrophic factor JBrowse link 16 22,936,602 22,965,929 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 5 81,762,027 81,909,253 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 18 50,002,921 50,009,425 RGD:9068941
G NF2 neurofibromin 2 JBrowse link 14 46,653,869 46,726,421 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 7 38,746,393 38,762,282 RGD:9068941
Alazami-Yuan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAF6 TATA-box binding protein associated factor 6 JBrowse link 3 8,017,675 8,026,982 RGD:7240710
anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BECN1 beclin 1 JBrowse link 12 20,041,914 20,054,249 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 12 22,333,445 22,335,949 RGD:9068941
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,922 4,876 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 18 6,209,218 6,228,912 RGD:9068941
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 7 98,275,973 98,322,072 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 6 414,930 439,206 RGD:9068941
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXA1 homeobox A1 JBrowse link 18 45,477,561 45,480,306 RGD:7240710
G HOXA2 homeobox A2 JBrowse link 18 45,470,079 45,473,345 RGD:9068941
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDXR ferredoxin reductase JBrowse link 12 6,372,224 6,382,769 RGD:7240710
autoimmune optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFH neurofilament heavy JBrowse link 14 46,559,698 46,568,686 RGD:9068941
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCI FA complementation group I JBrowse link 7 54,811,024 54,889,992 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:7240710
G TWNK twinkle mtDNA helicase JBrowse link 14 112,068,463 112,076,169 RGD:9068941
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 15 46,193,498 46,197,989 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 14 112,068,463 112,076,169 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 12 14,612,177 14,637,946 RGD:9068941
G POLG2 DNA polymerase gamma 2, accessory subunit JBrowse link 12 14,582,075 14,601,576 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 4 34,823,869 34,859,777 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 14 71,550,405 71,607,067 RGD:7240710
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 8 4,362,678 4,405,185 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 7 54,811,024 54,889,992 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:7240710
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 3 131,268,908 131,277,072 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 6 27,226,421 27,255,645 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 3 69,054,749 69,091,366 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 12 60,443,592 60,468,968 RGD:7240710
Behr syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 13 130,624,771 130,718,345 RGD:7240710
bilateral optic nerve hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAX6 paired box 6 JBrowse link 2 28,971,565 29,001,149 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 13 80,220,460 80,264,808 RGD:9068941
G FOXL2 forkhead box L2 JBrowse link 13 79,708,693 79,709,825 RGD:7240710
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 13 80,006,656 80,232,107 RGD:9068941
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 2 100,477,770 100,893,594 RGD:9068941
G KIAA0825 KIAA0825 JBrowse link 2 100,935,165 101,291,983 RGD:9068941
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 2 100,447,661 100,457,510 RGD:7240710
G POU5F2 POU domain class 5, transcription factor 2 JBrowse link 2 100,602,508 100,624,006 RGD:9068941
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 6 49,905,851 49,927,437 RGD:7240710
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYMK myomaker, myoblast fusion factor JBrowse link 1 273,101,674 273,111,721 RGD:7240710
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRAT carnitine O-acetyltransferase JBrowse link 1 269,387,430 269,401,334 RGD:9068941
Cayler Cardiofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EYA1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 4 63,970,939 64,328,107 RGD:9068941
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 7 54,811,024 54,889,992 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:9068941
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 4 61,577,413 61,596,106 RGD:7240710
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 1 267,964,875 268,008,833 RGD:9068941
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 88,074,861 88,101,925 RGD:7240710
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SACS sacsin molecular chaperone JBrowse link 11 2,382,406 2,455,756 RGD:7240710
G SGCG sarcoglycan gamma JBrowse link 11 2,310,280 2,380,054 RGD:9068941
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,858,826 15,096,969 RGD:9068941
G HIVEP2 HIVEP zinc finger 2 JBrowse link 1 22,240,681 22,436,945 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 15,080,972 15,099,426 RGD:9068941
G SLC9A6 solute carrier family 9 member A6 JBrowse link X 111,176,461 111,233,108 RGD:7240710
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1A interleukin 1 alpha JBrowse link 3 43,718,320 43,731,668 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G MILR1 mast cell immunoglobulin like receptor 1 JBrowse link 12 14,612,177 14,637,946 RGD:9068941
G MYF5 myogenic factor 5 JBrowse link 5 100,753,440 100,755,558 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:9068941
G POLG2 DNA polymerase gamma 2, accessory subunit JBrowse link 12 14,582,075 14,601,576 RGD:9068941
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 4 34,823,869 34,859,777 RGD:9068941
G SLC25A4 solute carrier family 25 member 4 JBrowse link 15 46,193,498 46,197,989 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 13 195,326,573 195,335,273 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 7,679,352 7,689,564 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 14 112,068,463 112,076,169 RGD:9068941
Congenital Fibrosis of Extraocular Muscles, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF21A kinesin family member 21A JBrowse link 5 70,888,999 71,029,832 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 9 6,808,144 6,831,636 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 5 70,888,999 71,029,832 RGD:9068941
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 8 112,866,597 113,335,765 RGD:7240710
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF21A kinesin family member 21A JBrowse link 5 70,888,999 71,029,832 RGD:9068941
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 9 86,511,866 86,555,950 RGD:9068941
G ATF6 activating transcription factor 6 JBrowse link 4 88,591,279 88,806,156 RGD:9068941
G MYO7A myosin VIIA JBrowse link 9 11,251,187 11,337,618 RGD:9068941
G PAX6 paired box 6 JBrowse link 2 28,971,565 29,001,149 RGD:9068941
congenital nystagmus 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRMD7 FERM domain containing 7 JBrowse link X 108,241,116 108,294,188 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
Y
6,242,296
4,669,764
6,276,654
4,704,304
RGD:7240710
Cranial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP4 bone morphogenetic protein 4 JBrowse link 1 183,415,989 183,422,888 RGD:9068941
G CX3CL1 C-X3-C motif chemokine ligand 1 JBrowse link 6 19,312,351 19,324,439 RGD:9068941
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 82,978,128 82,981,038 RGD:7240710
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 6 97,644,115 97,945,693 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 3 47,470,649 47,525,606 RGD:9068941
G EDAR ectodysplasin A receptor JBrowse link 3 47,396,303 47,466,234 RGD:9068941
G GCC2 GRIP and coiled-coil domain containing 2 JBrowse link 3 47,718,251 47,759,060 RGD:9068941
G LIMS1 LIM zinc finger domain containing 1 JBrowse link 3 47,607,737 47,704,921 RGD:9068941
G LOC100511376 E3 SUMO-protein ligase RanBP2 JBrowse link 3 47,531,362 47,601,328 RGD:9068941
G LOC100623441 sulfotransferase 1C4 JBrowse link 3 47,765,022 47,777,178 RGD:9068941
G LOC100623541 sulfotransferase 1C2 JBrowse link 3 47,807,830 47,824,199 RGD:9068941
G LOC100623656 sulfotransferase 1C1 JBrowse link 3 47,838,671 47,864,646 RGD:9068941
G SLC5A7 solute carrier family 5 member 7 JBrowse link 3 47,994,116 48,020,744 RGD:7240710
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCTN1 dynactin subunit 1 JBrowse link 3 68,642,562 68,673,605 RGD:7240710
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 18 42,311,711 42,352,201 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 6 72,026,512 72,056,439 RGD:9068941
G MPZ myelin protein zero JBrowse link 4 89,174,107 89,179,556 RGD:9068941
G NEFL neurofilament light JBrowse link 14 8,991,321 8,996,900 RGD:9068941
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 6 67,316,818 67,373,787 RGD:9068941
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 13 23,602,378 23,692,281 RGD:9068941
G SETX senataxin JBrowse link 1 272,093,449 272,170,857 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 2 150,183,480 150,247,747 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 14 41,125,819 41,169,582 RGD:9068941
dominant optic atrophy plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 13 130,624,771 130,718,345 RGD:7240710
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 3 85,407,677 85,473,251 RGD:7240710
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 15 80,731,243 80,927,746 RGD:9068941
G MAFB MAF bZIP transcription factor B JBrowse link 17 43,408,390 43,411,782 RGD:9068941
G SALL4 spalt like transcription factor 4 JBrowse link 17 53,082,610 53,103,023 RGD:9068941
Duane Retraction Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAFB MAF bZIP transcription factor B JBrowse link 17 43,408,390 43,411,782 RGD:9068941
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 15 80,731,243 80,927,746 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 17 43,408,390 43,411,782 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 6 86,094,383 86,131,691 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 2 65,491,784 65,871,068 RGD:7240710
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC25A4 solute carrier family 25 member 4 JBrowse link 15 46,193,498 46,197,989 RGD:9068941
G SLC25A42 solute carrier family 25 member 42 JBrowse link 2 58,753,363 58,803,356 RGD:9068941
epithelial basement membrane dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGFBI transforming growth factor beta induced JBrowse link 2 138,191,793 138,225,373 RGD:7240710
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TFAP2A transcription factor AP-2 alpha JBrowse link 7 7,221,654 7,244,626 RGD:9068941
Facial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADCYAP1 adenylate cyclase activating polypeptide 1 JBrowse link 6 105,414,628 105,422,294 RGD:9068941
G ATF2 activating transcription factor 2 JBrowse link 15 80,984,969 81,076,573 RGD:9068941
G CCR3 C-C motif chemokine receptor 3 JBrowse link 13 29,251,950 29,286,470 RGD:9068941
G CD59 CD59 molecule JBrowse link 2 27,186,587 27,207,303 RGD:9068941
G CSF1 colony stimulating factor 1 JBrowse link 4 110,178,466 110,198,232 RGD:9068941
G CTSS cathepsin S JBrowse link 4 98,415,273 98,442,952 RGD:9068941
G GFRA1 GDNF family receptor alpha 1 JBrowse link 14 126,273,558 126,499,957 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 9 98,437,771 98,513,573 RGD:9068941
G MT3 metallothionein 3 JBrowse link 6 18,634,735 18,636,134 RGD:9068941
G NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 JBrowse link 18 23,881,872 23,896,699 RGD:9068941
G RET ret proto-oncogene JBrowse link 14 61,305,818 61,361,416 RGD:9068941
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 6 97,233,639 97,240,692 RGD:7240710
facial paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MMP9 matrix metallopeptidase 9 JBrowse link 17 48,179,690 48,186,782 RGD:9068941
G POMC proopiomelanocortin JBrowse link 3 113,661,712 113,668,558 RGD:9068941
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 1 101,518,629 103,087,021 RGD:9068941
G ROBO3 roundabout guidance receptor 3 JBrowse link 9 52,065,043 52,081,764 RGD:9068941
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 9 52,065,043 52,081,764 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 1 101,518,629 103,087,021 RGD:7240710
Foveal Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATOH7 atonal bHLH transcription factor 7 JBrowse link 14 71,398,939 71,402,479 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 7 75,199,048 75,211,655 RGD:9068941
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 6 51,917,956 51,967,624 RGD:9068941
G SLC38A8 solute carrier family 38 member 8 JBrowse link 6 4,563,967 4,593,667 RGD:9068941
G TYR tyrosinase JBrowse link 9 22,517,047 22,604,290 RGD:9068941
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 6 4,563,967 4,593,667 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 3 73,157,744 73,398,379 RGD:7240710
Hereditary Congenital Facial Paresis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXB1 homeobox B1 JBrowse link 12 24,784,953 24,786,377 RGD:9068941
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXB1 homeobox B1 JBrowse link 12 24,784,953 24,786,377 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 37,166,973 37,535,723 RGD:9068941
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 11,359 12,736 RGD:9068941
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 14,739 15,266 RGD:9068941
G TMEM126A transmembrane protein 126A JBrowse link 9 19,576,241 19,585,869 RGD:9068941
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 13 190,277,175 190,285,957 RGD:9068941
G AIF1 allograft inflammatory factor 1 JBrowse link 7 23,711,752 23,731,191 RGD:9068941
G CSNK2B casein kinase 2 beta JBrowse link 7 23,781,194 23,787,914 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 8 101,278,877 101,344,084 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 15 48,053,895 48,106,634 RGD:9068941
G GFRA1 GDNF family receptor alpha 1 JBrowse link 14 126,273,558 126,499,957 RGD:9068941
G IL1R1 interleukin 1 receptor type 1 JBrowse link 3 52,192,912 52,334,734 RGD:9068941
G MCAM melanoma cell adhesion molecule JBrowse link 9 46,506,375 46,522,091 RGD:9068941
G MME membrane metalloendopeptidase JBrowse link 13 95,018,395 95,122,977 RGD:9068941
G PRKACA protein kinase cAMP-activated catalytic subunit alpha JBrowse link 2 65,074,876 65,095,564 RGD:9068941
G PRKACB protein kinase cAMP-activated catalytic subunit beta JBrowse link 6 129,520,397 129,636,207 RGD:9068941
G RET ret proto-oncogene JBrowse link 14 61,305,818 61,361,416 RGD:9068941
G SMAD1 SMAD family member 1 JBrowse link 8 82,907,557 82,987,909 RGD:9068941
G SMAD2 SMAD family member 2 JBrowse link 1 97,415,360 97,511,388 RGD:9068941
G SMAD3 SMAD family member 3 JBrowse link 1 164,998,457 165,124,455 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 1 100,521,843 100,633,501 RGD:9068941
G SMAD7 SMAD family member 7 JBrowse link 1 98,512,800 98,543,924 RGD:9068941
G SMAD9 SMAD family member 9 JBrowse link 11 12,705,652 12,727,981 RGD:9068941
G TXNRD1 thioredoxin reductase 1 JBrowse link 5 80,170,334 80,213,889 RGD:9068941
Inclusion Body Myopathy 3, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCG FA complementation group G JBrowse link 1 235,871,073 235,879,604 RGD:9068941
G GAS7 growth arrest specific 7 JBrowse link 12 54,752,436 54,974,535 RGD:9068941
G GLP2R glucagon like peptide 2 receptor JBrowse link 12 54,680,047 54,747,338 RGD:9068941
G LOC110255887 myosin-8 JBrowse link 12 55,135,651 55,166,983 RGD:9068941
G MYH13 myosin heavy chain 13 JBrowse link 12 55,051,990 55,103,415 RGD:9068941
G MYH2 myosin, heavy chain 2, skeletal muscle, adult JBrowse link 12 55,252,974 55,278,820 RGD:7240710
G MYH4 myosin, heavy chain 4, skeletal muscle JBrowse link 12 55,190,545 55,216,294 RGD:9068941
G RCVRN recoverin JBrowse link 12 54,740,642 54,752,291 RGD:9068941
G VCP valosin containing protein JBrowse link 1 235,854,532 235,869,712 RGD:9068941
infantile cerebellar-retinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACO2 aconitase 2 JBrowse link 5 7,014,383 7,071,023 RGD:7240710
G POLR3H RNA polymerase III subunit H JBrowse link 5 6,999,690 7,014,471 RGD:9068941
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 9 46,548,175 46,550,146 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:7240710
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 1 189,497,807 189,503,189 RGD:9068941
IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SALL4 spalt like transcription factor 4 JBrowse link 17 53,082,610 53,103,023 RGD:7240710
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHI1 Abelson helper integration site 1 JBrowse link 1 28,566,279 28,760,471 RGD:7240710
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C5H12orf29 chromosome 5 C12orf29 homolog JBrowse link 5 94,473,172 94,489,643 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 5 94,384,397 94,474,337 RGD:7240710
Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM67 transmembrane protein 67 JBrowse link 4 42,878,249 42,931,106 RGD:7240710
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPGRIP1 RPGR interacting protein 1 JBrowse link 7 77,813,964 77,903,973 RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 6 31,564,937 31,660,540 RGD:7240710
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 3 43,718,320 43,731,668 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 8,959 9,162 RGD:9068941
G MT-CO3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 9,800 10,583 RGD:9068941
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 10,653 10,998 RGD:9068941
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 11,359 12,736 RGD:9068941
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 12,935 14,755 RGD:9068941
G ND4L NADH dehydrogenase subunit 4L JBrowse link MT 11,069 11,365 RGD:9068941
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 8 17,841,844 18,527,953 RGD:9068941
Leber hereditary optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOA4 apolipoprotein A4 JBrowse link 9 44,201,587 44,204,072 RGD:9068941
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941
G CYTB cytochrome b JBrowse link MT 15,342 16,481 RGD:9068941
G EPHX1 epoxide hydrolase 1 JBrowse link 10 13,757,489 13,773,071 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 3 43,718,320 43,731,668 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G LRAT lecithin retinol acyltransferase JBrowse link 8 74,412,226 74,428,713 RGD:9068941
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 6,511 8,055 RGD:9068941
G MT-CO3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 9,800 10,583 RGD:9068941
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,922 4,876 RGD:9068941
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 10,653 10,998 RGD:9068941
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 11,359 12,736 RGD:9068941
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 12,935 14,755 RGD:9068941
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 14,739 15,266 RGD:9068941
G ND2 NADH dehydrogenase subunit 2 JBrowse link MT 5,087 6,128 RGD:9068941
G ND4L NADH dehydrogenase subunit 4L JBrowse link MT 11,069 11,365 RGD:9068941
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 4 89,246,958 89,257,090 RGD:9068941
G PARL presenilin associated rhomboid like JBrowse link 13 121,758,734 121,813,679 RGD:9068941
G RDH12 retinol dehydrogenase 12 JBrowse link 7 91,481,238 91,493,838 RGD:9068941
G RPE65 retinoid isomerohydrolase RPE65 JBrowse link 6 144,206,078 144,229,471 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 7 77,813,964 77,903,973 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 7,679,352 7,689,564 RGD:9068941
G TP53 tumor protein p53 JBrowse link 12 52,939,643 52,953,786 RGD:9068941
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 10,653 10,998 RGD:9068941
Leber plus disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 17 22,480,344 22,508,804 RGD:9068941
low tension glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB1 adrenoceptor beta 1 JBrowse link 14 124,400,330 124,401,739 RGD:9068941
G APOE apolipoprotein E JBrowse link 6 51,373,113 51,375,333 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 2 32,623,668 32,679,293 RGD:9068941
G CAV1 caveolin 1 JBrowse link 18 29,648,120 29,682,451 RGD:9068941
G CAV2 caveolin 2 JBrowse link 18 29,699,012 29,707,277 RGD:9068941
G CRP C-reactive protein, pentraxin-related JBrowse link 4 90,793,361 90,801,020 RGD:9068941
G EDN1 endothelin 1 JBrowse link 7 8,752,018 8,758,354 RGD:9068941
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 15 101,360,355 101,373,498 RGD:9068941
G MYOC myocilin JBrowse link 9 114,087,370 114,098,765 RGD:9068941
G OPTN optineurin JBrowse link 10 48,532,029 48,582,952 RGD:9068941
G SLC1A1 solute carrier family 1 member 1 JBrowse link 1 217,366,493 217,441,643 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 13 195,326,573 195,335,273 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 1 258,044,610 258,054,641 RGD:9068941
G TNF tumor necrosis factor JBrowse link 7 23,699,635 23,702,393 RGD:9068941
G TP53 tumor protein p53 JBrowse link 12 52,939,643 52,953,786 RGD:9068941
macular retinal edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOH apolipoprotein H JBrowse link 12 12,827,195 12,839,172 RGD:9068941
G CCL2 chemokine (C-C motif) ligand 2 JBrowse link 12 40,798,109 40,800,013 RGD:9068941
G CLU clusterin JBrowse link 14 11,336,585 11,352,569 RGD:9068941
G EPO erythropoietin JBrowse link 3 8,620,508 8,622,936 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 8 101,278,877 101,344,084 RGD:9068941
G FLT1 fms related receptor tyrosine kinase 1 JBrowse link 11 5,620,698 5,797,095 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 8 41,809,116 41,856,379 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 39,208,115 39,235,879 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 18 6,209,218 6,228,912 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 12 47,949,004 47,959,471 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 7 38,746,393 38,762,282 RGD:9068941
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 1 73,549,778 73,722,689 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 51,157,102 51,193,993 RGD:7240710
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RYR1 ryanodine receptor 1 JBrowse link 6 47,339,759 47,458,457 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 17 26,381,561 26,395,201 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 9 57,090,313 57,113,077 RGD:9068941
G AMH anti-Mullerian hormone JBrowse link 2 76,415,564 76,418,315 RGD:9068941
G BCDIN3D BCDIN3 domain containing RNA methyltransferase JBrowse link 5 15,755,307 15,761,645 RGD:9068941
G CDH11 cadherin 11 JBrowse link 6 25,782,746 25,933,753 RGD:9068941
G EBF3 EBF transcription factor 3 JBrowse link 14 138,819,846 138,935,504 RGD:9068941
G FAM71A family with sequence similarity 71 member A JBrowse link 9 130,766,150 130,768,044 RGD:9068941
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 15 100,086,724 100,499,566 RGD:9068941
G HSPB7 heat shock protein family B (small) member 7 JBrowse link 6 75,171,507 75,174,918 RGD:9068941
G INTS6L integrator complex subunit 6 like JBrowse link X 111,011,860 111,072,939 RGD:9068941
G KBTBD7 kelch repeat and BTB domain containing 7 JBrowse link 11 25,643,661 25,647,662 RGD:9068941
G MRPL28 mitochondrial ribosomal protein L28 JBrowse link 3 41,330,412 41,333,520 RGD:9068941
G PLCB2 phospholipase C beta 2 JBrowse link 1 131,005,408 131,031,864 RGD:9068941
G PTCH2 patched 2 JBrowse link 6 166,491,649 166,513,137 RGD:9068941
G SIM1 SIM bHLH transcription factor 1 JBrowse link 1 67,213,685 67,294,455 RGD:9068941
G ZNF787 zinc finger protein 787 JBrowse link 6 60,422,389 60,446,122 RGD:9068941
NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC44A1 solute carrier family 44 member 1 JBrowse link 1 246,548,461 246,760,527 RGD:7240710
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 8 135,431,965 135,495,124 RGD:7240710
neurofibromatosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NF2 neurofibromin 2 JBrowse link 14 46,653,869 46,726,421 RGD:7240710
G VEGFA vascular endothelial growth factor A JBrowse link 7 38,746,393 38,762,282 RGD:9068941
neuromyelitis optica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP4 aquaporin 4 JBrowse link 6 111,407,632 111,422,169 RGD:9068941
G CD59 CD59 molecule JBrowse link 2 27,186,587 27,207,303 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 12 18,456,268 18,466,594 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G MBP myelin basic protein JBrowse link 1 147,649,516 147,685,289 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 17 48,179,690 48,186,782 RGD:9068941
G NEFH neurofilament heavy JBrowse link 14 46,559,698 46,568,686 RGD:9068941
G S100B S100 calcium binding protein B RGD:9068941
non-arteritic anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 JBrowse link 12 15,394,487 15,414,609 RGD:9068941
G CRP C-reactive protein, pentraxin-related JBrowse link 4 90,793,361 90,801,020 RGD:9068941
G F5 coagulation factor V JBrowse link 4 81,403,273 81,484,908 RGD:9068941
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 12 51,975,810 51,979,428 RGD:7240710
RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 12 16,694,466 16,752,228 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 6 71,863,637 71,882,118 RGD:9068941
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELP4 elongator acetyltransferase complex subunit 4 JBrowse link 2 29,006,456 29,230,092 RGD:9068941
G PAX6 paired box 6 JBrowse link 2 28,971,565 29,001,149 RGD:7240710
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGM6 transglutaminase 6 JBrowse link 17 33,106,974 33,142,548 RGD:9068941
Oculomotor Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 10 30,030,050 30,429,938 RGD:9068941
olfactory neuroblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 1 190,625,436 190,673,926 RGD:9068941
ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGME1 mitochondrial genome maintenance exonuclease 1 JBrowse link 17 26,381,561 26,395,201 RGD:9068941
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 6,511 8,055 RGD:9068941
G MYF5 myogenic factor 5 JBrowse link 5 100,753,440 100,755,558 RGD:9068941
G NPC1 NPC intracellular cholesterol transporter 1 JBrowse link 6 108,403,126 108,450,486 RGD:9068941
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POMC proopiomelanocortin JBrowse link 3 113,661,712 113,668,558 RGD:9068941
optic atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 6 97,200,890 97,234,577 RGD:9068941
G CYRIA CYFIP related Rac1 interactor A JBrowse link 3 120,968,016 121,069,372 RGD:9068941
G DDX1 DEAD-box helicase 1 JBrowse link 3 121,818,400 121,856,667 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 5 41,571,054 41,636,058 RGD:9068941
G MECR mitochondrial trans-2-enoyl-CoA reductase JBrowse link 6 86,094,383 86,131,691 RGD:9068941
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 6,511 8,055 RGD:9068941
G MYCN MYCN proto-oncogene, bHLH transcription factor JBrowse link 3 121,543,201 121,549,678 RGD:9068941
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 2 15,031,147 15,036,880 RGD:9068941
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 6 70,271,296 70,307,403 RGD:9068941
G OAT ornithine aminotransferase JBrowse link 14 133,808,193 133,830,517 RGD:9068941
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 13 130,624,771 130,718,345 RGD:9068941
G SLBP stem-loop binding protein JBrowse link 8 802,940 818,161 RGD:9068941
G SLC25A46 solute carrier family 25 member 46 JBrowse link 2 115,529,662 115,555,441 RGD:9068941
G TBCD tubulin folding cofactor D JBrowse link 12 327,009 449,375 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 8 4,362,678 4,405,185 RGD:9068941
optic atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 13 130,624,771 130,718,345 RGD:7240710
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 6 51,917,956 51,967,624 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 8 4,362,678 4,405,185 RGD:9068941
optic atrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RTN4IP1 reticulon 4 interacting protein 1 JBrowse link 1 72,763,453 72,816,450 RGD:7240710
optic atrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G YME1L1 YME1 like 1 ATPase JBrowse link 10 48,807,654 48,855,228 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 6 51,917,956 51,967,624 RGD:7240710
optic atrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM1L dynamin 1 like JBrowse link 5 41,571,054 41,636,058 RGD:7240710
G YARS2 tyrosyl-tRNA synthetase 2 JBrowse link 5 41,561,563 41,584,534 RGD:9068941
optic atrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM126A transmembrane protein 126A JBrowse link 9 19,576,241 19,585,869 RGD:7240710
optic atrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACO2 aconitase 2 JBrowse link 5 7,014,383 7,071,023 RGD:7240710
G GREB1L GREB1 like retinoic acid receptor coactivator JBrowse link 6 106,545,882 106,693,711 RGD:9068941
G POLR3H RNA polymerase III subunit H JBrowse link 5 6,999,690 7,014,471 RGD:9068941
Optic Nerve Aplasia, Bilateral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAX6 paired box 6 JBrowse link 2 28,971,565 29,001,149 RGD:9068941
optic nerve disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGER advanced glycosylation end-product specific receptor JBrowse link 7 24,218,116 24,221,162 RGD:9068941
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941
G EDN1 endothelin 1 JBrowse link 7 8,752,018 8,758,354 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 6 12,057,475 12,073,749 RGD:9068941
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 8,959 9,162 RGD:9068941
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,922 4,876 RGD:9068941
G PAX6 paired box 6 JBrowse link 2 28,971,565 29,001,149 RGD:9068941
optic nerve glioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CX3CR1 C-X3-C motif chemokine receptor 1 JBrowse link 13 23,944,386 23,957,567 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 12 43,487,098 43,754,205 RGD:9068941
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 13 119,668,476 119,669,435 RGD:9068941
Optic Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP activity dependent neuroprotector homeobox JBrowse link 17 52,316,388 52,350,732 RGD:9068941
G AQP4 aquaporin 4 JBrowse link 6 111,407,632 111,422,169 RGD:9068941
G AQP9 aquaporin 9 JBrowse link 1 113,798,380 113,848,452 RGD:9068941
G ARG2 arginase 2 JBrowse link 7 91,343,987 91,385,911 RGD:9068941
G ATF2 activating transcription factor 2 JBrowse link 15 80,984,969 81,076,573 RGD:9068941
G BAX BCL2 associated X, apoptosis regulator JBrowse link 6 54,222,341 54,228,150 RGD:9068941
G BCL2 BCL2 apoptosis regulator JBrowse link 1 158,337,403 158,518,214 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 2 32,623,668 32,679,293 RGD:9068941
G C3 complement C3 JBrowse link 2 72,431,470 72,471,622 RGD:9068941
G CDK2 cyclin dependent kinase 2 JBrowse link 5 21,365,723 21,372,170 RGD:9068941
G CFL1 cofilin 1 JBrowse link 2 6,471,558 6,475,019 RGD:9068941
G CLU clusterin JBrowse link 14 11,336,585 11,352,569 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 12 22,333,445 22,335,949 RGD:9068941
G CTSB cathepsin B JBrowse link 14 15,014,139 15,035,081 RGD:9068941
G EDN1 endothelin 1 JBrowse link 7 8,752,018 8,758,354 RGD:9068941
G EDNRA endothelin receptor type A JBrowse link 8 81,210,750 81,279,053 RGD:9068941
G EDNRB endothelin receptor type B JBrowse link 11 50,073,300 50,102,879 RGD:9068941
G EP300 E1A binding protein p300 JBrowse link 5 7,311,165 7,394,515 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 8 101,278,877 101,344,084 RGD:9068941
G GDNF glial cell derived neurotrophic factor JBrowse link 16 22,936,602 22,965,929 RGD:9068941
G GFRA1 GDNF family receptor alpha 1 JBrowse link 14 126,273,558 126,499,957 RGD:9068941
G GFRA2 GDNF family receptor alpha 2 JBrowse link 14 5,743,583 5,837,470 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 9 98,437,771 98,513,573 RGD:9068941
G IGF1R insulin like growth factor 1 receptor JBrowse link 1 137,383,623 137,691,038 RGD:9068941
G JUN Jun proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 153,686,425 153,687,635 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 4 90,421,956 90,457,406 RGD:9068941
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 6,511 8,055 RGD:9068941
G NAMPT nicotinamide phosphoribosyltransferase JBrowse link 9 106,119,896 106,162,126 RGD:9068941
G NEFM neurofilament medium JBrowse link 14 8,955,346 8,967,211 RGD:9068941
G NEO1 neogenin 1 JBrowse link 7 60,064,984 60,299,892 RGD:9068941
G NGFR nerve growth factor receptor JBrowse link 12 25,699,410 25,720,355 RGD:9068941
G NTRK1 neurotrophic receptor tyrosine kinase 1 JBrowse link 4 93,219,509 93,237,944 RGD:9068941
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 10 30,030,050 30,429,938 RGD:9068941
G PAWR pro-apoptotic WT1 regulator JBrowse link 5 101,693,145 101,797,842 RGD:9068941
G PAX6 paired box 6 JBrowse link 2 28,971,565 29,001,149 RGD:9068941
G PDGFB platelet derived growth factor subunit B RGD:9068941
G PECAM1 platelet and endothelial cell adhesion molecule 1 JBrowse link 12 14,667,643 14,723,296 RGD:9068941
G PLAU plasminogen activator, urokinase JBrowse link 14 76,629,313 76,635,173 RGD:9068941
G PTPN5 protein tyrosine phosphatase non-receptor type 5 JBrowse link 2 40,458,865 40,521,470 RGD:9068941
G RHOA ras homolog family member A JBrowse link 13 31,918,484 31,991,207 RGD:9068941
G SNW1 SNW domain containing 1 JBrowse link 7 100,718,298 100,749,414 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 1 258,044,610 258,054,641 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 5 64,319,349 64,331,876 RGD:9068941
G TRADD TNFRSF1A associated via death domain JBrowse link 6 27,797,594 27,804,654 RGD:9068941
G YBX3 Y-box binding protein 3 JBrowse link 5 61,337,868 61,361,269 RGD:9068941
optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP4 aquaporin 4 JBrowse link 6 111,407,632 111,422,169 RGD:9068941
G CAPN1 calpain 1 JBrowse link 2 6,997,513 7,024,410 RGD:9068941
G CAT catalase JBrowse link 2 26,493,664 26,533,881 RGD:9068941
G CCR5 chemokine (C-C motif) receptor 5 JBrowse link 13 29,382,383 29,387,902 RGD:9068941
G CSPG4 chondroitin sulfate proteoglycan 4 JBrowse link 7 57,949,182 57,988,602 RGD:9068941
G MOG myelin oligodendrocyte glycoprotein JBrowse link 7 22,595,565 22,606,137 RGD:9068941
G NEFH neurofilament heavy JBrowse link 14 46,559,698 46,568,686 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 7,679,352 7,689,564 RGD:9068941
pathologic nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP290 centrosomal protein 290 JBrowse link 5 94,384,397 94,474,337 RGD:9068941
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 4 50,112,927 50,263,264 RGD:9068941
G COL18A1 collagen type XVIII alpha 1 chain JBrowse link 13 207,907,835 207,984,082 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 6 63,867,155 63,957,514 RGD:9068941
G GPR143 G protein-coupled receptor 143 JBrowse link X
Y
6,242,296
4,669,764
6,276,654
4,704,304
RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 12 53,200,570 53,250,566 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 39,208,115 39,235,879 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 7 77,813,964 77,903,973 RGD:9068941
G SLC19A1 solute carrier family 19 member 1 JBrowse link 13 207,986,094 208,007,855 RGD:9068941
G TFAP2A transcription factor AP-2 alpha JBrowse link 7 7,221,654 7,244,626 RGD:9068941
G TMEM67 transmembrane protein 67 JBrowse link 4 42,878,249 42,931,106 RGD:9068941
G TYR tyrosinase JBrowse link 9 22,517,047 22,604,290 RGD:9068941
PEHO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC88A coiled-coil domain containing 88A JBrowse link 3 85,811,043 85,971,162 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 5 81,762,027 81,909,253 RGD:9068941
G KIF1A kinesin family member 1A JBrowse link 15 139,610,624 139,694,841 RGD:9068941
G ZNHIT3 zinc finger HIT-type containing 3 JBrowse link 12 38,013,931 38,027,928 RGD:7240710
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 14 55,816,663 55,901,215 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 7 54,811,024 54,889,992 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 14 112,068,463 112,076,169 RGD:9068941
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 3 57,423,894 57,506,247 RGD:9068941
G MAP2K6 mitogen-activated protein kinase kinase 6 JBrowse link 12 10,891,445 11,018,617 RGD:9068941
G MAPT microtubule associated protein tau JBrowse link 12 17,098,259 17,211,483 RGD:7240710
RGD:9068941
G MOBP myelin associated oligodendrocyte basic protein JBrowse link 13 24,138,078 24,186,838 RGD:9068941
G OGG1 8-oxoguanine DNA glycosylase JBrowse link 13 66,038,669 66,045,478 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 13 195,326,573 195,335,273 RGD:9068941
G SRSF2 serine and arginine rich splicing factor 2 JBrowse link 12 4,800,578 4,803,767 RGD:9068941
G STX6 syntaxin 6 JBrowse link 9 122,533,737 122,580,631 RGD:9068941
G TARDBP TAR DNA binding protein JBrowse link 6 71,213,584 71,227,707 RGD:9068941
G TRA2B transformer 2 beta homolog JBrowse link 13 123,760,008 123,780,919 RGD:9068941
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAPT microtubule associated protein tau JBrowse link 12 17,098,259 17,211,483 RGD:7240710
Senior-Loken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT3 AKT serine/threonine kinase 3 JBrowse link 10 16,441,465 16,741,745 RGD:9068941
G C5H12orf29 chromosome 5 C12orf29 homolog JBrowse link 5 94,473,172 94,489,643 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 5 94,384,397 94,474,337 RGD:9068941
G IQCB1 IQ motif containing B1 JBrowse link 13 138,689,544 138,741,228 RGD:9068941
G NPHP1 nephrocystin 1 JBrowse link 3 46,316,864 46,378,279 RGD:9068941
G NPHP4 nephrocystin 4 JBrowse link 6 66,815,282 66,928,245 RGD:9068941
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 10 16,191,178 16,441,828 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 15 72,430,250 72,512,503 RGD:9068941
G WDR19 WD repeat domain 19 JBrowse link 8 30,453,969 30,553,699 RGD:9068941
Senior-Loken Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP1 nephrocystin 1 JBrowse link 3 46,316,864 46,378,279 RGD:7240710
Senior-Loken Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP3 nephrocystin 3 JBrowse link 13 73,843,770 73,901,020 RGD:7240710
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP4 nephrocystin 4 JBrowse link 6 66,815,282 66,928,245 RGD:7240710
Senior-Loken Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IQCB1 IQ motif containing B1 JBrowse link 13 138,689,544 138,741,228 RGD:7240710
Senior-Loken Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C5H12orf29 chromosome 5 C12orf29 homolog JBrowse link 5 94,473,172 94,489,643 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 5 94,384,397 94,474,337 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 10 16,441,465 16,741,745 RGD:9068941
G CEP170 centrosomal protein 170 JBrowse link 10 16,068,544 16,191,277 RGD:9068941
G PLD5 phospholipase D family member 5 JBrowse link 10 15,420,600 15,723,890 RGD:9068941
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 10 16,191,178 16,441,828 RGD:7240710
Senior-Loken Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR19 WD repeat domain 19 JBrowse link 8 30,453,969 30,553,699 RGD:7240710
Senior-Loken Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 15 137,863,612 137,912,325 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 RGD:9068941
G FANCI FA complementation group I JBrowse link 7 54,811,024 54,889,992 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:7240710
G PRICKLE2 prickle planar cell polarity protein 2 JBrowse link 13 45,620,372 45,968,295 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 14 112,068,463 112,076,169 RGD:9068941
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 3 121,882,734 122,242,325 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 6 97,200,890 97,234,577 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 2 65,491,784 65,871,068 RGD:9068941
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 2 142,387,563 142,401,232 RGD:9068941
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 12 51,923,764 51,931,875 RGD:9068941
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 14 79,345,382 80,106,337 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 12 51,899,762 51,924,465 RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 6 414,930 439,206 RGD:9068941
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAPBPL TAP binding protein like JBrowse link 5 64,188,184 64,197,033 RGD:9068941
G VAMP1 vesicle associated membrane protein 1 JBrowse link 5 64,181,496 64,188,275 RGD:7240710
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAMTA2 calmodulin binding transcription activator 2 JBrowse link 12 51,931,794 51,948,703 RGD:9068941
G CHRNE cholinergic receptor nicotinic epsilon subunit JBrowse link 12 51,999,504 52,016,592 RGD:9068941
G ENO3 enolase 3 JBrowse link 12 51,954,614 51,959,991 RGD:9068941
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 12 51,975,810 51,979,428 RGD:9068941
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 12 51,923,764 51,931,875 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 12 51,899,762 51,924,465 RGD:7240710
G PFN1 profilin 1 JBrowse link 12 51,962,642 51,965,570 RGD:9068941
G RNF167 ring finger protein 167 JBrowse link 12 51,966,028 51,970,811 RGD:9068941
G SLC25A11 solute carrier family 25 member 11 JBrowse link 12 51,970,794 51,973,668 RGD:9068941
G SPAG7 sperm associated antigen 7 JBrowse link 12 51,948,788 51,953,587 RGD:9068941
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARS2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 15 101,508,668 101,524,076 RGD:7240710
G SACS sacsin molecular chaperone JBrowse link 11 2,382,406 2,455,756 RGD:9068941
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTPAP mitochondrial poly(A) polymerase JBrowse link 10 40,764,098 40,869,608 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 6 97,200,890 97,234,577 RGD:7240710
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX6-2 NK6 homeobox 2 JBrowse link 14 140,895,622 140,899,114 RGD:7240710
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 1 130,073,919 130,112,461 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 3 127,382,587 127,477,753 RGD:7240710
SPOAN syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLC2 kinesin light chain 2 JBrowse link 2 6,117,236 6,127,048 RGD:7240710
strabismus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHCTF1 AT-hook containing transcription factor 1 JBrowse link 10 15,042,168 15,121,885 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 1 183,415,989 183,422,888 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 13 52,346,844 52,974,358 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 6 63,867,155 63,957,514 RGD:9068941
G MED13L mediator complex subunit 13L JBrowse link 14 36,061,834 36,384,567 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 12 43,487,098 43,754,205 RGD:9068941
G SIL1 SIL1 nucleotide exchange factor JBrowse link 2 140,884,170 141,118,201 RGD:9068941
G SOX5 SRY-box transcription factor 5 JBrowse link 5 49,159,950 50,166,463 RGD:9068941
Trigeminal Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP53 tumor protein p53 JBrowse link 12 52,939,643 52,953,786 RGD:9068941
trigeminal neuralgia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIF1 allograft inflammatory factor 1 JBrowse link 7 23,711,752 23,731,191 RGD:9068941
G CALCB calcitonin-related polypeptide beta JBrowse link 2 44,043,135 44,048,651 RGD:9068941
G CDK5 cyclin dependent kinase 5 JBrowse link 18 6,166,914 6,171,157 RGD:9068941
G CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 JBrowse link 12 42,456,063 42,494,494 RGD:9068941
G FOS Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 7 98,449,508 98,451,971 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 12 18,456,268 18,466,594 RGD:9068941
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G MAPK1 mitogen-activated protein kinase 1 JBrowse link 14 50,083,079 50,165,528 RGD:9068941
G MAPK3 mitogen-activated protein kinase 3 JBrowse link 3 18,291,444 18,299,410 RGD:9068941
G MAPK8 mitogen-activated protein kinase 8 JBrowse link 14 88,988,914 89,108,875 RGD:9068941
G MAPK9 mitogen-activated protein kinase 9 JBrowse link 2 78,338,466 78,399,108 RGD:9068941
G MIR125A microRNA mir-125a JBrowse link 6 58,331,566 58,331,645 RGD:9068941
G PRKCG protein kinase C gamma JBrowse link 6 56,213,479 56,235,683 RGD:9068941
G TNF tumor necrosis factor JBrowse link 7 23,699,635 23,702,393 RGD:9068941
vestibular neuronitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRP C-reactive protein, pentraxin-related JBrowse link 4 90,793,361 90,801,020 RGD:9068941
Vestibulocochlear Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB2 adrenoceptor beta 2 JBrowse link 2 150,032,649 150,035,591 RGD:9068941
Warburg micro syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB18 RAB18, member RAS oncogene family JBrowse link 10 38,970,381 39,004,975 RGD:9068941
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 15 16,756,368 16,893,148 RGD:9068941
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 10 9,734,766 9,828,330 RGD:9068941
G TBC1D20 TBC1 domain family member 20 JBrowse link 17 34,760,379 34,778,301 RGD:9068941
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 15 16,414,291 16,727,659 RGD:9068941
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 15 16,756,368 16,893,148 RGD:7240710
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 15 16,414,291 16,727,659 RGD:9068941
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 10 9,734,766 9,828,330 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 38,970,381 39,004,975 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 17 34,760,379 34,778,301 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 3,922 4,876 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 8 4,362,678 4,405,185 RGD:9068941
Wolfram syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 8 4,362,678 4,405,185 RGD:7240710
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CISD2 CDGSH iron sulfur domain 2 JBrowse link 8 118,152,580 118,164,695 RGD:7240710
G SLC9B1 solute carrier family 9 member B1 JBrowse link 8 118,052,091 118,134,685 RGD:9068941
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 106,676,596 106,708,290 RGD:7240710
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 106,708,402 106,723,803 RGD:9068941
Zonular Cataract and Nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHS NHS actin remodeling regulator JBrowse link X 13,854,950 14,209,085 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12552
    disease of anatomical entity 12087
      nervous system disease 9811
        peripheral nervous system disease 2253
          neuropathy 2093
            cranial nerve disease 378
              Cranial Nerve Injuries + 73
              Cranial Nerves, Congenital Paresis of 0
              Cranial Nerves, Recurrent Paresis of 0
              Ophthalmoplegic Migraine 0
              Vagus nerve disease + 22
              accessory nerve disease + 0
              cranial nerve neoplasm + 15
              cranial nerve palsy + 0
              facial nerve disease + 48
              glossopharyngeal nerve disease + 42
              hypoglossal nerve disease + 19
              jaw-winking syndrome 0
              ocular motility disease + 113
              olfactory nerve disease + 1
              optic nerve disease + 199
              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.