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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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3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COLEC11 collectin subfamily member 11 JBrowse link 17 2,147,679 2,180,096 RGD:7240710
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 34 19,689,426 19,750,669 RGD:9068941
G SLC26A2 solute carrier family 26 member 2 JBrowse link 4 59,068,601 59,090,803 RGD:9068941
acoustic neuroma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G CAV1 caveolin 1 JBrowse link 14 55,458,934 55,494,563 RGD:9068941
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 12 5,746,898 5,755,103 RGD:9068941
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 JBrowse link 28 41,079,164 41,089,188 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 16 27,029,902 27,080,514 RGD:9068941
G GDNF glial cell derived neurotrophic factor JBrowse link 4 70,966,694 70,991,860 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 16 1,021,855 1,027,604 RGD:9068941
G NF2 neurofibromin 2 JBrowse link 26 22,816,869 22,896,103 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 12 12,209,032 12,224,978 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 6 9,475,132 9,488,611 RGD:7240710
anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BECN1 beclin 1 JBrowse link 9 20,204,203 20,215,081 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 9 22,529,643 22,532,326 RGD:9068941
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 2,747 3,702 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 16 15,054,196 15,072,454 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 8 48,180,203 48,218,430 RGD:7240710
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXA1 homeobox A1 JBrowse link 14 40,267,033 40,272,212 RGD:7240710
G HOXA2 homeobox A2 JBrowse link 14 40,273,992 40,276,975 RGD:9068941
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDXR ferredoxin reductase JBrowse link 9 5,567,411 5,577,427 RGD:7240710
autoimmune optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFH neurofilament heavy JBrowse link 26 22,726,523 22,735,129 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 3 52,282,955 52,357,874 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 RGD:7240710
G TWNK twinkle mtDNA helicase JBrowse link 28 13,672,772 13,680,732 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 16 45,454,660 45,458,606 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 28 13,672,772 13,680,732 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 9 12,251,085 12,266,608 RGD:9068941
G POLG2 DNA polymerase gamma 2, accessory subunit JBrowse link 9 12,258,188 12,298,376 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 13 3,774,725 3,838,576 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 4 19,626,001 19,683,819 RGD:7240710
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 13 38,451,722 38,466,481 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 3 52,282,955 52,357,874 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 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 17 2,117,446 2,127,893 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 5 82,730,514 82,758,153 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 17 49,107,085 49,139,366 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 5 41,262,820 41,290,101 RGD:7240710
Behr syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 23 52,068,123 52,154,410 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 23 35,536,520 35,604,708 RGD:9068941
G FOXL2 forkhead box L2 JBrowse link 23 35,145,856 35,147,185 RGD:7240710
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 23 35,508,478 35,536,081 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 3 15,281,442 15,695,303 RGD:9068941
G KIAA0825 KIAA0825 JBrowse link 3 14,868,609 15,251,247 RGD:9068941
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 3 15,707,198 15,716,875 RGD:7240710
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 112,325,988 112,346,056 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 49,905,580 49,919,849 RGD:7240710
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRAT carnitine O-acetyltransferase JBrowse link 9 54,566,708 54,580,301 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 29 20,176,306 20,595,131 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 3 52,282,955 52,357,874 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 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 29 22,805,468 22,835,909 RGD:7240710
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 55,855,576 55,894,915 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 81,150,537 81,171,521 RGD:7240710
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SACS sacsin molecular chaperone JBrowse link 25 15,207,959 15,297,483 RGD:7240710
G SGCG sarcoglycan gamma JBrowse link 25 15,300,303 15,429,555 RGD:9068941
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,512,226 14,725,348 RGD:9068941
G HIVEP2 HIVEP zinc finger 2 JBrowse link 1 34,367,455 34,560,277 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 14,727,016 14,749,674 RGD:9068941
G SLC9A6 solute carrier family 9 member A6 JBrowse link X 106,408,789 106,465,504 RGD:7240710
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1A interleukin 1 alpha JBrowse link 17 36,969,581 36,979,445 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G MILR1 mast cell immunoglobulin like receptor 1 JBrowse link 9 12,251,085 12,266,608 RGD:9068941
G MYF5 myogenic factor 5 JBrowse link 15 23,049,235 23,051,604 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 RGD:9068941
G POLG2 DNA polymerase gamma 2, accessory subunit JBrowse link 9 12,258,188 12,298,376 RGD:9068941
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 13 3,774,725 3,838,576 RGD:9068941
G SLC25A4 solute carrier family 25 member 4 JBrowse link 16 45,454,660 45,458,606 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 48,943,472 48,955,158 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 28 13,672,772 13,680,732 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 27 14,205,980 14,328,281 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 21 25,895,628 25,900,338 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 5 63,681,765 63,690,898 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 27 14,205,980 14,328,281 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 32 29,119,875 29,567,994 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 27 14,205,980 14,328,281 RGD:9068941
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 14 31,743,704 31,793,484 RGD:9068941
G ATF6 activating transcription factor 6 JBrowse link 38 20,705,167 20,903,852 RGD:9068941
G MYO7A myosin VIIA JBrowse link 21 21,539,735 21,624,063 RGD:9068941
congenital nystagmus 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRMD7 FERM domain containing 7 JBrowse link X 103,027,980 103,055,139 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 6,438,068 6,479,731 RGD:7240710
Cranial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP4 bone morphogenetic protein 4 JBrowse link 8 29,997,563 30,254,307 RGD:9068941
G CX3CL1 C-X3-C motif chemokine ligand 1 JBrowse link 2 59,022,794 59,032,095 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 75,267,437 75,270,288 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 7 76,477,628 76,918,660 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 10 34,976,341 35,086,080 RGD:9068941
G EDAR ectodysplasin A receptor JBrowse link 10 34,873,311 34,943,140 RGD:9068941
G GCC2 GRIP and coiled-coil domain containing 2 JBrowse link 10 35,379,055 35,431,500 RGD:9068941
G LIMS1 LIM zinc finger domain containing 1 JBrowse link 10 35,192,582 35,339,100 RGD:9068941
G LOC474539 E3 SUMO-protein ligase RanBP2 JBrowse link 10 35,088,175 35,181,248 RGD:9068941
G SLC5A7 solute carrier family 5 member 7 JBrowse link 10 35,879,880 35,908,203 RGD:7240710
G SULT1C2 sulfotransferase family 1C member 2 JBrowse link 10 35,561,023 35,589,999 RGD:9068941
G SULT1C3 sulfotransferase family 1C member 3 JBrowse link 10 35,610,282 35,644,315 RGD:9068941
G SULT1C4 sulfotransferase family 1C member 4 JBrowse link 10 35,494,614 35,504,162 RGD:9068941
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCTN1 dynactin subunit 1 JBrowse link 17 48,728,096 48,759,187 RGD:7240710
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 8 69,997,021 70,064,886 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 14 43,308,274 43,351,999 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
G MPZ myelin protein zero JBrowse link 38 21,205,339 21,210,439 RGD:9068941
G NEFL neurofilament light JBrowse link 25 32,463,361 32,468,965 RGD:9068941
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 60,321,453 60,347,393 RGD:9068941
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 23 8,559,804 8,651,448 RGD:9068941
G SETX senataxin JBrowse link 9 51,900,004 51,980,694 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 4 59,801,240 59,905,759 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 26 17,293,334 17,330,156 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 23 52,068,123 52,154,410 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 10 56,632,801 56,694,872 RGD:7240710
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 36 18,785,470 18,990,409 RGD:9068941
G MAFB MAF bZIP transcription factor B JBrowse link 24 28,769,904 28,772,519 RGD:9068941
G SALL4 spalt like transcription factor 4 JBrowse link 24 37,941,498 37,959,713 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 24 28,769,904 28,772,519 RGD:9068941
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 36 18,785,470 18,990,409 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 24 28,769,904 28,772,519 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 2 71,369,768 71,400,499 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 20 48,747,087 49,036,627 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 20 50,798,250 50,802,477 RGD:7240710
G SLC25A4 solute carrier family 25 member 4 JBrowse link 16 45,454,660 45,458,606 RGD:9068941
G SLC25A42 solute carrier family 25 member 42 JBrowse link 20 44,043,672 44,074,691 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 11 23,932,038 23,971,983 RGD:7240710
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TFAP2A transcription factor AP-2 alpha JBrowse link 35 10,157,043 10,180,484 RGD:9068941
Facial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADCYAP1 adenylate cyclase activating polypeptide 1 JBrowse link 7 67,682,421 67,691,035 RGD:9068941
G ATF2 activating transcription factor 2 JBrowse link 36 19,032,376 19,103,382 RGD:9068941
G CCR3 C-C motif chemokine receptor 3 JBrowse link 20 42,382,380 42,398,449 RGD:9068941
G CD59 CD59 molecule JBrowse link 18 33,977,433 33,999,145 RGD:9068941
G CSF1 colony stimulating factor 1 JBrowse link 6 42,028,454 42,047,028 RGD:9068941
G CTSS cathepsin S JBrowse link 17 59,893,840 59,910,878 RGD:9068941
G GFRA1 GDNF family receptor alpha 1 JBrowse link 28 26,707,592 26,910,029 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 18 21,329,688 21,410,257 RGD:9068941
G NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 JBrowse link 14 11,995,862 12,008,257 RGD:9068941
G RET ret proto-oncogene JBrowse link 28 3,946,132 3,995,505 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 7 77,728,876 77,746,759 RGD:7240710
facial paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G POMC proopiomelanocortin JBrowse link 17 19,431,396 19,438,247 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 21,788,833 22,494,849 RGD:9068941
G ROBO3 roundabout guidance receptor 3 JBrowse link 5 9,563,353 9,579,111 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 5 9,563,353 9,579,111 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 21,788,833 22,494,849 RGD:7240710
Foveal Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATOH7 atonal bHLH transcription factor 7 JBrowse link 4 19,466,476 19,479,279 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 8 4,086,487 4,090,373 RGD:9068941
G SLC38A8 solute carrier family 38 member 8 JBrowse link 5 68,289,864 68,308,381 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 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 5 68,289,864 68,308,381 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 10 67,829,573 68,021,368 RGD:7240710
Hereditary Congenital Facial Paresis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXB1 homeobox B1 JBrowse link 9 24,791,848 24,795,443 RGD:9068941
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXB1 homeobox B1 JBrowse link 9 24,791,848 24,795,443 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 35,939,117 36,296,438 RGD:9068941
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,201 11,578 RGD:9068941
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,582 14,109 RGD:9068941
G TMEM126A transmembrane protein 126A JBrowse link 21 13,787,074 13,795,779 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 31 22,169,821 22,178,879 RGD:9068941
G AIF1 allograft inflammatory factor 1 JBrowse link 12 1,104,350 1,106,179 RGD:9068941
G CSNK2B casein kinase 2 beta JBrowse link 12 1,149,467 1,154,417 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 19 17,403,288 17,463,143 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 16 27,029,902 27,080,514 RGD:9068941
G GFRA1 GDNF family receptor alpha 1 JBrowse link 28 26,707,592 26,910,029 RGD:9068941
G IL1R1 interleukin 1 receptor type 1 JBrowse link 10 40,825,986 40,897,898 RGD:9068941
G MCAM melanoma cell adhesion molecule JBrowse link 5 14,590,252 14,598,901 RGD:9068941
G MME membrane metalloendopeptidase JBrowse link 23 48,966,222 49,059,919 RGD:9068941
G PRKACA protein kinase cAMP-activated catalytic subunit alpha JBrowse link 20 48,416,730 48,425,237 RGD:9068941
G PRKACB protein kinase cAMP-activated catalytic subunit beta JBrowse link 6 63,615,445 63,729,386 RGD:9068941
G RET ret proto-oncogene JBrowse link 28 3,946,132 3,995,505 RGD:9068941
G SMAD1 SMAD family member 1 JBrowse link 15 44,093,491 44,171,177 RGD:9068941
G SMAD2 SMAD family member 2 JBrowse link 7 43,696,883 43,778,063 RGD:9068941
G SMAD3 SMAD family member 3 JBrowse link 30 31,246,313 31,360,098 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 1 23,875,989 23,930,027 RGD:9068941
G SMAD7 SMAD family member 7 JBrowse link 7 79,706,485 79,734,673 RGD:9068941
G SMAD9 SMAD family member 9 JBrowse link 25 3,768,851 3,844,645 RGD:9068941
G TXNRD1 thioredoxin reductase 1 JBrowse link 10 33,904,065 34,021,549 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 11 51,652,939 51,659,766 RGD:9068941
G GAS7 growth arrest specific 7 JBrowse link 5 34,334,477 34,457,189 RGD:9068941
G GLP2R glucagon like peptide 2 receptor JBrowse link 5 34,267,270 34,317,525 RGD:9068941
G MYH1 myosin heavy chain 1 JBrowse link 5 34,781,364 34,808,277 RGD:9068941
G MYH13 myosin heavy chain 13 JBrowse link 5 34,617,987 34,669,349 RGD:9068941
G MYH2 myosin heavy chain 2 JBrowse link 5 34,810,791 34,838,177 RGD:7240710
G MYH4 myosin heavy chain 4 JBrowse link 5 34,743,454 34,767,076 RGD:9068941
G MYH8 myosin heavy chain 8 JBrowse link 5 34,696,377 34,725,515 RGD:9068941
G RCVRN recoverin JBrowse link 5 34,323,580 34,330,667 RGD:9068941
G VCP valosin containing protein JBrowse link 11 51,636,986 51,651,749 RGD:9068941
infantile cerebellar-retinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACO2 aconitase 2 JBrowse link 10 23,742,284 23,798,580 RGD:7240710
G POLR3H RNA polymerase III subunit H JBrowse link 10 23,728,697 23,742,345 RGD:9068941
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 5 14,561,115 14,563,277 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 5 14,555,619 14,561,577 RGD:7240710
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 8 35,565,838 35,568,423 RGD:9068941
IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SALL4 spalt like transcription factor 4 JBrowse link 24 37,941,498 37,959,713 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 27,966,101 28,199,163 RGD:7240710
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C15H12orf29 chromosome 15 C12orf29 homolog JBrowse link 15 29,182,975 29,241,884 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 15 29,194,449 29,281,351 RGD:7240710
Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM67 transmembrane protein 67 JBrowse link 29 38,655,531 38,715,774 RGD:7240710
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPGRIP1 RPGR interacting protein 1 JBrowse link 15 18,316,887 18,388,724 RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 2 62,080,159 62,179,694 RGD:7240710
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1A interleukin 1 alpha JBrowse link 17 36,969,581 36,979,445 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,964 8,644 RGD:9068941
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 7,803 8,006 RGD:9068941
G MT-CO3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,644 9,427 RGD:9068941
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 9,496 9,841 RGD:9068941
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,201 11,578 RGD:9068941
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 11,778 13,598 RGD:9068941
G ND4L NADH dehydrogenase subunit 4L JBrowse link MT 9,911 10,207 RGD:9068941
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 3 85,645,942 86,284,570 RGD:9068941
Leber hereditary optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOA4 apolipoprotein A4 JBrowse link 5 16,751,588 16,754,215 RGD:9068941
G EPHX1 epoxide hydrolase 1 JBrowse link 7 38,964,319 39,004,902 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 17 36,969,581 36,979,445 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G LRAT lecithin retinol acyltransferase JBrowse link 15 52,399,773 52,409,590 RGD:9068941
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,964 8,644 RGD:9068941
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,349 6,893 RGD:9068941
G MT-CO3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,644 9,427 RGD:9068941
G MT-CYB mitochondrially encoded cytochrome b JBrowse link MT 14,183 15,322 RGD:9068941
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 2,747 3,702 RGD:9068941
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 JBrowse link MT 3,914 4,955 RGD:9068941
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 9,496 9,841 RGD:9068941
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,201 11,578 RGD:9068941
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 11,778 13,598 RGD:9068941
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,582 14,109 RGD:9068941
G ND4L NADH dehydrogenase subunit 4L JBrowse link MT 9,911 10,207 RGD:9068941
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 38 21,271,603 21,281,140 RGD:9068941
G PARL presenilin associated rhomboid like JBrowse link 34 16,790,049 16,837,557 RGD:9068941
G RDH12 retinol dehydrogenase 12 JBrowse link 8 41,685,045 41,696,120 RGD:9068941
G RPE65 retinoid isomerohydrolase RPE65 JBrowse link 6 76,887,399 76,911,133 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 15 18,316,887 18,388,724 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 48,943,472 48,955,158 RGD:9068941
G TP53 tumor protein p53 JBrowse link 5 32,561,406 32,565,149 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 9,496 9,841 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 24 8,810,682 8,873,212 RGD:9068941
low tension glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB1 adrenoceptor beta 1 JBrowse link 28 24,908,224 24,909,684 RGD:9068941
G APOE apolipoprotein E JBrowse link 1 110,525,717 110,528,534 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G CAV1 caveolin 1 JBrowse link 14 55,458,934 55,494,563 RGD:9068941
G CAV2 caveolin 2 JBrowse link 14 55,437,622 55,445,481 RGD:9068941
G CRP C-reactive protein JBrowse link 38 22,396,787 22,398,180 RGD:9068941
G EDN1 endothelin 1 JBrowse link 35 11,808,892 11,815,383 RGD:9068941
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 37 7,010,421 7,025,912 RGD:9068941
G MYOC myocilin JBrowse link 7 27,335,314 27,346,821 RGD:9068941
G OPTN optineurin JBrowse link 2 23,356,471 23,390,569 RGD:9068941
G SLC1A1 solute carrier family 1 member 1 JBrowse link 1 92,898,274 92,978,260 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 11 71,356,390 71,367,166 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
G TP53 tumor protein p53 JBrowse link 5 32,561,406 32,565,149 RGD:9068941
macular retinal edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOH apolipoprotein H JBrowse link 9 14,082,648 14,095,186 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 9 39,008,187 39,009,932 RGD:9068941
G CLU clusterin JBrowse link 25 29,982,811 29,999,565 RGD:9068941
G EPO erythropoietin JBrowse link 6 8,994,211 8,995,954 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 19 17,403,288 17,463,143 RGD:9068941
G FLT1 fms related receptor tyrosine kinase 1 JBrowse link 25 11,231,958 11,410,379 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 13 47,442,861 47,484,574 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 37,949,560 37,975,573 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 16 15,054,196 15,072,454 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 9 45,891,368 45,902,768 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 12 12,209,032 12,224,978 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 12 64,653,814 64,794,144 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 49,783,962 49,852,098 RGD:7240710
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RYR1 ryanodine receptor 1 JBrowse link 1 114,461,350 114,579,577 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 24 5,068,147 5,083,941 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 5 4,479,874 4,517,211 RGD:9068941
G AMH anti-Mullerian hormone JBrowse link 20 56,785,960 56,788,815 RGD:9068941
G BCDIN3D BCDIN3 domain containing RNA methyltransferase JBrowse link 27 4,851,156 4,860,322 RGD:9068941
G CDH11 cadherin 11 JBrowse link 5 83,977,267 84,122,712 RGD:9068941
G EBF3 EBF transcription factor 3 JBrowse link 28 38,489,635 38,601,800 RGD:9068941
G FAM71A family with sequence similarity 71 member A JBrowse link 7 10,799,790 10,801,939 RGD:9068941
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 37 5,850,518 6,213,353 RGD:9068941
G HSPB7 heat shock protein family B (small) member 7 JBrowse link 2 81,628,051 81,631,939 RGD:9068941
G INTS6L integrator complex subunit 6 like JBrowse link X 105,996,058 106,052,347 RGD:9068941
G KBTBD7 kelch repeat and BTB domain containing 7 JBrowse link 22 9,388,467 9,391,099 RGD:9068941
G MRPL28 mitochondrial ribosomal protein L28 JBrowse link 6 40,146,050 40,148,024 RGD:9068941
G PLCB2 phospholipase C beta 2 JBrowse link 30 7,472,208 7,493,106 RGD:9068941
G PTCH2 patched 2 JBrowse link 15 15,488,357 15,503,748 RGD:9068941
G SIM1 SIM bHLH transcription factor 1 JBrowse link 12 58,480,744 58,552,126 RGD:9068941
G ZNF787 zinc finger protein 787 JBrowse link 1 101,773,860 101,798,593 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 11 61,120,858 61,313,250 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 32 6,761,018 6,840,802 RGD:7240710
neurofibromatosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NF2 neurofibromin 2 JBrowse link 26 22,816,869 22,896,103 RGD:7240710
G VEGFA vascular endothelial growth factor A JBrowse link 12 12,209,032 12,224,978 RGD:9068941
neuromyelitis optica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP4 aquaporin 4 JBrowse link 7 61,855,617 61,868,953 RGD:9068941
G CD59 CD59 molecule JBrowse link 18 33,977,433 33,999,145 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 9 18,569,868 18,579,463 RGD:9068941
G HLA-DRB1 MHC class II DLA DRB1 beta chain JBrowse link 12 2,151,409 2,164,564 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain JBrowse link 12 2,244,820 2,250,822 RGD:9068941
G MBP myelin basic protein JBrowse link 1 2,841,801 2,952,553 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G NEFH neurofilament heavy JBrowse link 26 22,726,523 22,735,129 RGD:9068941
G S100B S100 calcium binding protein B JBrowse link 31 39,783,990 39,788,289 RGD:9068941
non-arteritic anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACE angiotensin I converting enzyme JBrowse link 9 11,497,182 11,516,362 RGD:9068941
G CRP C-reactive protein JBrowse link 38 22,396,787 22,398,180 RGD:9068941
G F5 coagulation factor V JBrowse link 7 28,999,481 29,069,603 RGD:9068941
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 5 31,681,605 31,683,261 RGD:7240710
RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 9 9,179,667 9,231,061 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 2 84,445,526 84,457,435 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 18 35,638,606 35,880,194 RGD:9068941
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGM6 transglutaminase 6 JBrowse link 24 18,698,016 18,721,975 RGD:9068941
Oculomotor Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 1 74,447,927 74,777,910 RGD:9068941
olfactory neuroblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 8 36,614,045 36,656,692 RGD:9068941
ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGME1 mitochondrial genome maintenance exonuclease 1 JBrowse link 24 5,068,147 5,083,941 RGD:9068941
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,349 6,893 RGD:9068941
G MYF5 myogenic factor 5 JBrowse link 15 23,049,235 23,051,604 RGD:9068941
G NPC1 NPC intracellular cholesterol transporter 1 JBrowse link 7 64,764,941 64,802,507 RGD:9068941
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POMC proopiomelanocortin JBrowse link 17 19,431,396 19,438,247 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 7 77,749,029 77,787,466 RGD:9068941
G CYRIA CYFIP related Rac1 interactor A JBrowse link 17 12,208,319 12,311,775 RGD:9068941
G DDX1 DEAD-box helicase 1 JBrowse link 17 11,432,060 11,467,000 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 27 16,161,855 16,211,983 RGD:9068941
G MECR mitochondrial trans-2-enoyl-CoA reductase JBrowse link 2 71,369,768 71,400,499 RGD:9068941
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,349 6,893 RGD:9068941
G MYCN MYCN proto-oncogene, bHLH transcription factor JBrowse link 17 11,720,857 11,724,308 RGD:9068941
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 18 42,069,402 42,075,843 RGD:9068941
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 63,122,379 63,152,078 RGD:9068941
G OAT ornithine aminotransferase JBrowse link 28 33,763,661 33,788,817 RGD:9068941
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 23 52,068,123 52,154,410 RGD:9068941
G SLBP stem-loop binding protein JBrowse link 3 62,386,982 62,401,541 RGD:9068941
G SLC25A46 solute carrier family 25 member 46 JBrowse link 3 1,700,310 1,715,841 RGD:9068941
G TBCD tubulin folding cofactor D RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 13 38,451,722 38,466,481 RGD:9068941
optic atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 23 52,068,123 52,154,410 RGD:7240710
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 13 38,451,722 38,466,481 RGD:9068941
optic atrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RTN4IP1 reticulon 4 interacting protein 1 JBrowse link 12 63,926,803 63,972,417 RGD:7240710
optic atrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G YME1L1 YME1 like 1 ATPase JBrowse link 2 6,785,472 6,829,188 RGD:7240710
optic atrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM1L dynamin 1 like JBrowse link 27 16,161,855 16,211,983 RGD:7240710
G YARS2 tyrosyl-tRNA synthetase 2 JBrowse link 27 16,139,462 16,162,701 RGD:9068941
optic atrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM126A transmembrane protein 126A JBrowse link 21 13,787,074 13,795,779 RGD:7240710
optic atrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACO2 aconitase 2 JBrowse link 10 23,742,284 23,798,580 RGD:7240710
G GREB1L GREB1 like retinoic acid receptor coactivator JBrowse link 7 66,489,124 66,758,207 RGD:9068941
G POLR3H RNA polymerase III subunit H JBrowse link 10 23,728,697 23,742,345 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 12 1,574,251 1,577,410 RGD:9068941
G EDN1 endothelin 1 JBrowse link 35 11,808,892 11,815,383 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 5 75,172,976 75,188,197 RGD:9068941
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,964 8,644 RGD:9068941
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 7,803 8,006 RGD:9068941
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 2,747 3,702 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 23 8,937,069 8,954,738 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 9 41,467,460 41,679,388 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 34 14,853,000 14,855,153 RGD:9068941
Optic Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP activity dependent neuroprotector homeobox JBrowse link 24 37,211,776 37,245,938 RGD:9068941
G AMIGO3 adhesion molecule with Ig like domain 3 JBrowse link 20 39,554,028 39,557,129 RGD:9068941
G AQP4 aquaporin 4 JBrowse link 7 61,855,617 61,868,953 RGD:9068941
G AQP9 aquaporin 9 JBrowse link 30 23,223,413 23,271,893 RGD:9068941
G ARG2 arginase 2 JBrowse link 8 41,588,051 41,619,406 RGD:9068941
G ATF2 activating transcription factor 2 JBrowse link 36 19,032,376 19,103,382 RGD:9068941
G BAX BCL2 associated X, apoptosis regulator JBrowse link 1 107,423,388 107,426,464 RGD:9068941
G BCL2 BCL2 apoptosis regulator JBrowse link 1 13,733,849 13,900,653 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G C3 complement C3 JBrowse link 20 53,566,226 53,598,365 RGD:9068941
G CDK2 cyclin dependent kinase 2 JBrowse link 10 300,863 306,546 RGD:9068941
G CFL1 cofilin 1 JBrowse link 18 51,404,649 51,408,240 RGD:9068941
G CLU clusterin JBrowse link 25 29,982,811 29,999,565 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 9 22,529,643 22,532,326 RGD:9068941
G CTSB cathepsin B JBrowse link 25 26,048,237 26,056,570 RGD:9068941
G EDN1 endothelin 1 JBrowse link 35 11,808,892 11,815,383 RGD:9068941
G EDNRA endothelin receptor type A JBrowse link 15 45,823,472 45,878,527 RGD:9068941
G EDNRB endothelin receptor type B JBrowse link 22 31,415,324 31,438,772 RGD:9068941
G EP300 E1A binding protein p300 JBrowse link 10 24,076,538 24,156,708 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 19 17,403,288 17,463,143 RGD:9068941
G GDNF glial cell derived neurotrophic factor JBrowse link 4 70,966,694 70,991,860 RGD:9068941
G GFRA1 GDNF family receptor alpha 1 JBrowse link 28 26,707,592 26,910,029 RGD:9068941
G GFRA2 GDNF family receptor alpha 2 JBrowse link 25 35,436,790 35,521,661 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 18 21,329,688 21,410,257 RGD:9068941
G IGF1R insulin like growth factor 1 receptor JBrowse link 3 41,795,337 42,096,255 RGD:9068941
G JUN Jun proto-oncogene, AP-1 transcription factor subunit JBrowse link 5 50,966,698 50,968,939 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 38 22,114,718 22,143,625 RGD:9068941
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,349 6,893 RGD:9068941
G NAMPT nicotinamide phosphoribosyltransferase JBrowse link 18 14,110,045 14,211,268 RGD:9068941
G NEFM neurofilament medium JBrowse link 25 32,493,517 32,498,615 RGD:9068941
G NEO1 neogenin 1 JBrowse link 30 36,387,425 36,622,491 RGD:9068941
G NGFR nerve growth factor receptor JBrowse link 9 25,598,468 25,621,021 RGD:9068941
G NTRK1 neurotrophic receptor tyrosine kinase 1 JBrowse link 7 41,140,931 41,159,326 RGD:9068941
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 1 74,447,927 74,777,910 RGD:9068941
G PAWR pro-apoptotic WT1 regulator JBrowse link 15 22,114,014 22,159,287 RGD:9068941
G PDGFB platelet derived growth factor subunit B JBrowse link 10 25,798,877 25,819,422 RGD:9068941
G PECAM1 platelet and endothelial cell adhesion molecule 1 JBrowse link 9 12,166,124 12,219,553 RGD:9068941
G PLAU plasminogen activator, urokinase JBrowse link 4 24,329,139 24,333,893 RGD:9068941
G PTPN5 protein tyrosine phosphatase non-receptor type 5 JBrowse link 21 41,097,563 41,154,247 RGD:9068941
G RHOA ras homolog family member A JBrowse link 20 39,824,552 39,888,089 RGD:9068941
G SNW1 SNW domain containing 1 JBrowse link 8 50,478,924 50,512,360 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 11 71,356,390 71,367,166 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 27 38,641,837 38,654,693 RGD:9068941
G TRADD TNFRSF1A associated via death domain JBrowse link 5 82,200,430 82,211,430 RGD:9068941
G YBX3 Y-box binding protein 3 JBrowse link 27 35,043,756 35,066,230 RGD:9068941
G ZC3H7B zinc finger CCCH-type containing 7B JBrowse link 10 23,882,379 23,944,850 RGD:9068941
optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP4 aquaporin 4 JBrowse link 7 61,855,617 61,868,953 RGD:9068941
G CAPN1 calpain 1 JBrowse link 18 51,983,266 52,010,831 RGD:9068941
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G CCR5 C-C motif chemokine receptor 5 JBrowse link 20 42,293,288 42,297,952 RGD:9068941
G CSPG4 chondroitin sulfate proteoglycan 4 JBrowse link 30 38,465,486 38,498,365 RGD:9068941
G HLA-DRB1 MHC class II DLA DRB1 beta chain JBrowse link 12 2,151,409 2,164,564 RGD:9068941
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain JBrowse link 12 2,244,820 2,250,822 RGD:9068941
G MOG myelin oligodendrocyte glycoprotein JBrowse link 35 26,256,311 26,267,357 RGD:9068941
G NEFH neurofilament heavy JBrowse link 26 22,726,523 22,735,129 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 48,943,472 48,955,158 RGD:9068941
pathologic nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP290 centrosomal protein 290 JBrowse link 15 29,194,449 29,281,351 RGD:9068941
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 29 32,744,946 32,992,715 RGD:9068941
G COL18A1 collagen type XVIII alpha 1 chain JBrowse link 31 38,915,872 38,957,484 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 5 56,777,854 56,879,619 RGD:9068941
G GPR143 G protein-coupled receptor 143 JBrowse link X 6,438,068 6,479,731 RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 5 32,844,033 32,859,263 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 37,949,560 37,975,573 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 15 18,316,887 18,388,724 RGD:9068941
G SLC19A1 solute carrier family 19 member 1 JBrowse link 31 38,958,332 38,971,091 RGD:9068941
G TFAP2A transcription factor AP-2 alpha JBrowse link 35 10,157,043 10,180,484 RGD:9068941
G TMEM67 transmembrane protein 67 JBrowse link 29 38,655,531 38,715,774 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
PEHO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC88A coiled-coil domain containing 88A JBrowse link 10 56,167,907 56,300,974 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G KIF1A kinesin family member 1A JBrowse link 25 50,855,703 50,945,014 RGD:9068941
G ZNHIT3 zinc finger HIT-type containing 3 JBrowse link 9 36,378,226 36,383,906 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 4 4,490,892 4,569,401 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 3 52,282,955 52,357,874 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 28 13,672,772 13,680,732 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 17 37,886,397 37,950,671 RGD:9068941
G MAP2K6 mitogen-activated protein kinase kinase 6 JBrowse link 9 15,840,714 15,962,400 RGD:9068941
G MAPT microtubule associated protein tau JBrowse link 9 9,572,174 9,674,082 RGD:7240710
RGD:9068941
G MOBP myelin associated oligodendrocyte basic protein JBrowse link 23 9,121,277 9,176,128 RGD:9068941
G OGG1 8-oxoguanine DNA glycosylase JBrowse link 20 8,486,150 8,491,448 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G SRSF2 serine and arginine rich splicing factor 2 JBrowse link 9 4,028,414 4,032,371 RGD:9068941
G STX6 syntaxin 6 JBrowse link 7 14,452,663 14,506,120 RGD:9068941
G TARDBP TAR DNA binding protein JBrowse link 2 84,987,752 84,998,136 RGD:9068941
G TRA2B transformer 2 beta homolog JBrowse link 34 18,637,725 18,656,869 RGD:9068941
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAPT microtubule associated protein tau JBrowse link 9 9,572,174 9,674,082 RGD:7240710
Senior-Loken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT3 AKT serine/threonine kinase 3 JBrowse link 7 34,633,064 34,931,112 RGD:9068941
G C15H12orf29 chromosome 15 C12orf29 homolog JBrowse link 15 29,182,975 29,241,884 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 15 29,194,449 29,281,351 RGD:9068941
G IQCB1 IQ motif containing B1 JBrowse link 33 25,046,975 25,113,252 RGD:9068941
G NPHP1 nephrocystin 1 JBrowse link 17 35,076,527 35,136,674 RGD:9068941
G NPHP4 nephrocystin 4 JBrowse link 5 59,819,236 59,936,220 RGD:9068941
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 7 34,395,977 34,631,479 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 36 11,009,362 11,086,586 RGD:9068941
G WDR19 WD repeat domain 19 JBrowse link 3 73,115,560 73,213,823 RGD:9068941
Senior-Loken Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP1 nephrocystin 1 JBrowse link 17 35,076,527 35,136,674 RGD:7240710
Senior-Loken Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP3 nephrocystin 3 JBrowse link 23 29,662,486 29,703,629 RGD:7240710
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP4 nephrocystin 4 JBrowse link 5 59,819,236 59,936,220 RGD:7240710
Senior-Loken Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IQCB1 IQ motif containing B1 JBrowse link 33 25,046,975 25,113,252 RGD:7240710
Senior-Loken Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C15H12orf29 chromosome 15 C12orf29 homolog JBrowse link 15 29,182,975 29,241,884 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 15 29,194,449 29,281,351 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 7 34,633,064 34,931,112 RGD:9068941
G CEP170 centrosomal protein 170 JBrowse link 7 34,264,994 34,395,355 RGD:9068941
G PLD5 phospholipase D family member 5 JBrowse link 7 33,422,964 33,836,252 RGD:9068941
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 7 34,395,977 34,631,479 RGD:7240710
Senior-Loken Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR19 WD repeat domain 19 JBrowse link 3 73,115,560 73,213,823 RGD:7240710
Senior-Loken Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 25 48,782,448 48,836,993 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 48,610,906 48,630,932 RGD:9068941
G FANCI FA complementation group I JBrowse link 3 52,282,955 52,357,874 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 RGD:7240710
G PRICKLE2 prickle planar cell polarity protein 2 JBrowse link 20 26,810,167 27,131,864 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 28 13,672,772 13,680,732 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 17 11,091,536 11,410,284 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 7 77,749,029 77,787,466 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 20 48,747,087 49,036,627 RGD:9068941
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 2 35,828,243 35,843,615 RGD:9068941
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 5 31,639,263 31,642,663 RGD:9068941
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 4 26,844,250 27,338,271 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 5 31,613,335 31,635,313 RGD:9068941
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAPBPL TAP binding protein like JBrowse link 27 38,526,968 38,534,585 RGD:9068941
G VAMP1 vesicle associated membrane protein 1 JBrowse link 27 38,518,978 38,526,361 RGD:7240710
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C5H17orf107 chromosome 5 C17orf107 homolog JBrowse link 5 31,705,484 31,706,675 RGD:9068941
G CAMTA2 calmodulin binding transcription activator 2 JBrowse link 5 31,632,064 31,657,537 RGD:9068941
G CHRNE cholinergic receptor nicotinic epsilon subunit JBrowse link 5 31,696,710 31,707,639 RGD:9068941
G ENO3 enolase 3 JBrowse link 5 31,662,284 31,667,498 RGD:9068941
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 5 31,681,605 31,683,261 RGD:9068941
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 5 31,639,263 31,642,663 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 5 31,613,335 31,635,313 RGD:7240710
G PFN1 profilin 1 JBrowse link 5 31,670,483 31,671,891 RGD:9068941
G RNF167 ring finger protein 167 JBrowse link 5 31,673,540 31,676,705 RGD:9068941
G SLC25A11 solute carrier family 25 member 11 JBrowse link 5 31,676,826 31,680,138 RGD:9068941
G SPAG7 sperm associated antigen 7 JBrowse link 5 31,657,633 31,661,635 RGD:9068941
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARS2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 37 7,149,375 7,155,318 RGD:7240710
G SACS sacsin molecular chaperone JBrowse link 25 15,207,959 15,297,483 RGD:9068941
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTPAP mitochondrial poly(A) polymerase JBrowse link 2 16,666,742 16,695,753 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 7 77,749,029 77,787,466 RGD:7240710
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX6-2 NK6 homeobox 2 JBrowse link 28 40,568,948 40,570,240 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 30 8,304,939 8,352,833 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 17 5,983,208 6,077,609 RGD:7240710
SPOAN syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLC2 kinesin light chain 2 JBrowse link 18 51,035,013 51,045,629 RGD:7240710
strabismus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHCTF1 AT-hook containing transcription factor 1 JBrowse link 7 37,550,045 37,627,428 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 8 29,997,563 30,254,307 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 20 20,438,631 21,020,516 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 5 56,777,854 56,879,619 RGD:9068941
G MED13L mediator complex subunit 13L JBrowse link 26 12,768,762 13,031,251 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 9 41,467,460 41,679,388 RGD:9068941
G SIL1 SIL1 nucleotide exchange factor JBrowse link 11 26,470,439 26,689,198 RGD:9068941
G SOX5 SRY-box transcription factor 5 JBrowse link 27 22,857,661 23,855,709 RGD:9068941
Trigeminal Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP53 tumor protein p53 JBrowse link 5 32,561,406 32,565,149 RGD:9068941
trigeminal neuralgia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIF1 allograft inflammatory factor 1 JBrowse link 12 1,104,350 1,106,179 RGD:9068941
G CDK5 cyclin dependent kinase 5 JBrowse link 16 15,105,177 15,113,085 RGD:9068941
G CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 JBrowse link 9 40,481,111 40,502,689 RGD:9068941
G CRSP-3 calcitonin receptor-stimulating peptide 3 JBrowse link 21 37,676,841 37,680,643 RGD:9068941
G FOS Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 8 48,330,856 48,334,273 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 9 18,569,868 18,579,463 RGD:9068941
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 9 48,492,967 48,513,981 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G MAPK1 mitogen-activated protein kinase 1 JBrowse link 26 31,013,607 31,132,998 RGD:9068941
G MAPK3 mitogen-activated protein kinase 3 JBrowse link 6 18,109,184 18,115,728 RGD:9068941
G MAPK8 mitogen-activated protein kinase 8 JBrowse link 28 323,361 410,367 RGD:9068941
G MAPK9 mitogen-activated protein kinase 9 JBrowse link 11 1,443,528 1,480,501 RGD:9068941
G MIR125A microRNA mir-125a JBrowse link 1 105,400,273 105,400,332 RGD:9068941
G PRKCG protein kinase C gamma JBrowse link 1 103,295,110 103,312,562 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
vestibular neuronitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRP C-reactive protein JBrowse link 38 22,396,787 22,398,180 RGD:9068941
Vestibulocochlear Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB2 adrenoceptor beta 2 JBrowse link 4 60,048,502 60,050,447 RGD:9068941
Warburg micro syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB18 RAB18, member RAS oncogene family JBrowse link 2 6,071,944 6,112,064 RGD:9068941
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 19 37,861,844 38,006,433 RGD:12801476
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 38 14,927,670 15,025,554 RGD:9068941
G TBC1D20 TBC1 domain family member 20 JBrowse link 24 20,400,647 20,419,652 RGD:9068941
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 19 38,003,273 38,302,598 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 19 37,861,844 38,006,433 RGD:7240710
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 19 38,003,273 38,302,598 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 38 14,927,670 15,025,554 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 2 6,071,944 6,112,064 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 24 20,400,647 20,419,652 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 2,747 3,702 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 13 38,451,722 38,466,481 RGD:9068941
Wolfram syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 13 38,451,722 38,466,481 RGD:7240710
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CISD2 CDGSH iron sulfur domain 2 JBrowse link 32 24,257,909 24,274,732 RGD:7240710
G SLC9B1 solute carrier family 9 member B1 JBrowse link 32 24,292,961 24,352,795 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 101,275,027 101,307,551 RGD:7240710
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 101,311,752 101,322,825 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 13,487,919 13,834,869 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12604
    disease of anatomical entity 12146
      nervous system disease 9870
        peripheral nervous system disease 2264
          neuropathy 2102
            cranial nerve disease 380
              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 + 14
              cranial nerve palsy + 0
              facial nerve disease + 47
              glossopharyngeal nerve disease + 42
              hypoglossal nerve disease + 19
              jaw-winking syndrome 0
              ocular motility disease + 113
              olfactory nerve disease + 1
              optic nerve disease + 201
              third cranial nerve disease + 2
              trigeminal nerve disease + 16
              trochlear nerve disease + 0
              vestibulocochlear nerve disease + 17
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.