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ONTOLOGY REPORT - ANNOTATIONS


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


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3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 42,477,467 42,546,814 RGD:7240710
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COLEC11 collectin subfamily member 11 JBrowse link 2A 3,610,679 3,659,739 RGD:7240710
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 3 184,241,611 184,317,272 RGD:9068941
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 145,385,433 145,412,180 RGD:9068941
acoustic neuroma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARTN artemin JBrowse link 1 43,233,097 43,239,044 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 11 27,618,322 27,687,661 RGD:9068941
G CAV1 caveolin 1 JBrowse link 7 108,497,125 108,533,090 RGD:9068941
G CDKN1A cyclin dependent kinase inhibitor 1A JBrowse link 6 36,241,405 36,250,032 RGD:9068941
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 42,298,927 42,319,816 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 37,713,133 37,773,098 RGD:9068941
G GDNF glial cell derived neurotrophic factor JBrowse link 5 72,539,374 72,566,918 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 99,986,887 100,066,773 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 46,564,234 46,573,145 RGD:9068941
G NF2 neurofibromin 2 JBrowse link 22 10,648,022 10,738,167 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 43,361,053 43,377,366 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 7 92,142,646 92,154,951 RGD:7240710
anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BECN1 beclin 1 JBrowse link 17 14,493,619 14,507,809 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 17 17,271,074 17,273,493 RGD:9068941
G LOC100972354 interferon alpha-2 JBrowse link 9 21,245,017 21,246,210 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 7 142,577,334 142,600,702 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 14 55,633,667 55,678,670 RGD:7240710
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXA1 homeobox A1 JBrowse link 7 27,737,432 27,740,442 RGD:7240710
G HOXA2 homeobox A2 JBrowse link 7 27,745,138 27,747,129 RGD:9068941
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDXR ferredoxin reductase JBrowse link 17 68,808,123 68,818,642 RGD:7240710
autoimmune optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEFH neurofilament heavy JBrowse link 22 10,525,738 10,536,788 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 15 67,935,882 68,009,033 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 68,008,214 68,028,241 RGD:7240710
G TWNK twinkle mtDNA helicase JBrowse link 10 97,588,811 97,595,663 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 4 177,310,982 177,315,016 RGD:7240710
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TWNK twinkle mtDNA helicase JBrowse link 10 97,588,811 97,595,663 RGD:7240710
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MILR1 mast cell immunoglobulin like receptor 1 JBrowse link 17 58,546,046 58,570,679 RGD:9068941
G POLG2 DNA polymerase gamma 2, accessory subunit JBrowse link 17 58,574,442 58,593,915 RGD:7240710
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 8 98,854,101 98,890,365 RGD:7240710
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNA2 DNA replication helicase/nuclease 2 JBrowse link 10 64,898,024 64,956,541 RGD:7240710
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein RGD:7240710
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCI FA complementation group I JBrowse link 15 67,935,882 68,009,033 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 68,008,214 68,028,241 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 2A 3,550,303 3,578,161 RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TK2 thymidine kinase 2 JBrowse link 16 46,793,679 46,868,508 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 2A 74,000,969 74,032,993 RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TOP3A DNA topoisomerase III alpha JBrowse link 17 32,814,448 32,858,076 RGD:7240710
Behr syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 190,890,242 190,995,133 RGD:7240710
bilateral optic nerve hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAX6 paired box 6 JBrowse link 11 31,753,190 31,782,225 RGD:7240710
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COPB2 COPI coat complex subunit beta 2 JBrowse link 3 136,394,480 136,426,544 RGD:9068941
G FOXL2 forkhead box L2 JBrowse link 3 135,968,040 135,980,063 RGD:7240710
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 3 136,380,963 136,394,148 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 5 21,256,767 21,749,797 RGD:9068941
G KIAA0825 KIAA0825 ortholog JBrowse link 5 20,755,995 21,216,208 RGD:9068941
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 5 21,773,283 21,785,746 RGD:7240710
G POU5F2 POU domain class 5, transcription factor 2 JBrowse link 5 21,624,172 21,627,395 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 19 38,854,243 38,882,034 RGD:7240710
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYMK myomaker, myoblast fusion factor JBrowse link 9 104,638,011 104,668,204 RGD:7240710
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRAT carnitine O-acetyltransferase JBrowse link 9 100,220,019 100,236,061 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 8 67,728,057 68,060,069 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 15 67,935,882 68,009,033 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 68,008,214 68,028,241 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 8 70,854,665 70,900,532 RGD:7240710
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 9 98,571,796 98,623,581 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 96,720,988 96,743,594 RGD:7240710
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SACS sacsin molecular chaperone JBrowse link 13 4,642,078 4,745,453 RGD:7240710
G SGCG sarcoglycan gamma JBrowse link 13 4,471,680 4,638,419 RGD:9068941
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 11,047,357 11,261,172 RGD:9068941
G HIVEP2 HIVEP zinc finger 2 JBrowse link 6 140,518,954 140,712,849 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 11,259,222 11,282,289 RGD:9068941
G SLC9A6 solute carrier family 9 member A6 JBrowse link X 125,099,378 125,171,161 RGD:7240710
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1A interleukin 1 alpha JBrowse link 2A 89,273,482 89,284,421 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 89,216,313 89,223,358 RGD:9068941
G MILR1 mast cell immunoglobulin like receptor 1 JBrowse link 17 58,546,046 58,570,679 RGD:9068941
G MYF5 myogenic factor 5 JBrowse link 12 78,236,945 78,239,701 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 68,008,214 68,028,241 RGD:9068941
G POLG2 DNA polymerase gamma 2, accessory subunit JBrowse link 17 58,574,442 58,593,915 RGD:9068941
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 8 98,854,101 98,890,365 RGD:9068941
G SLC25A4 solute carrier family 25 member 4 JBrowse link 4 177,310,982 177,315,016 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 18,029,831 18,037,526 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 157,562,814 157,610,155 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 10 97,588,811 97,595,663 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 12 49,260,728 49,410,599 RGD:7240710
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHOX2A paired like homeobox 2A JBrowse link 11 67,317,747 67,322,850 RGD:7240710
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF21A kinesin family member 21A JBrowse link 12 49,260,728 49,410,599 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 4 101,311,291 101,808,618 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 12 49,260,728 49,410,599 RGD:9068941
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 7 17,949,254 17,998,737 RGD:9068941
G ATF6 activating transcription factor 6 JBrowse link 1 137,178,629 137,382,256 RGD:9068941
G MYO7A myosin VIIA JBrowse link 11 72,187,024 72,265,931 RGD:9068941
G PAX6 paired box 6 JBrowse link 11 31,753,190 31,782,225 RGD:9068941
congenital nystagmus 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRMD7 FERM domain containing 7 JBrowse link X 121,208,961 121,259,708 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 2,357,835 2,398,389 RGD:7240710
Cranial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP4 bone morphogenetic protein 4 JBrowse link 14 34,542,132 34,549,286 RGD:9068941
G CX3CL1 C-X3-C motif chemokine ligand 1 JBrowse link 16 37,646,447 37,659,078 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 90,548,212 90,551,534 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 18 3,141,285 3,619,885 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 2A 95,030,440 95,126,627 RGD:9068941
G EDAR ectodysplasin A receptor JBrowse link 2A 95,132,396 95,172,218 RGD:9068941
G GCC2 GRIP and coiled-coil domain containing 2 JBrowse link 2A 94,659,117 94,721,491 RGD:9068941
G LIMS1 LIM zinc finger domain containing 1 JBrowse link 2A 94,739,338 94,928,835 RGD:9068941
G LOC100989340 E3 SUMO-protein ligase RanBP2 JBrowse link 2A 94,961,024 95,029,437 RGD:9068941
G SLC5A7 solute carrier family 5 member 7 JBrowse link 2A 93,917,086 93,944,308 RGD:7240710
G SULT1C2 sulfotransferase family 1C member 2 JBrowse link 2A 94,468,094 94,489,191 RGD:9068941
G SULT1C4 sulfotransferase family 1C member 4 JBrowse link 2A 94,508,492 94,519,963 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 2A 74,428,060 74,458,574 RGD:7240710
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 14 82,584,876 82,670,750 RGD:9068941
G GARS1 glycyl-tRNA synthetase 1 JBrowse link 7 31,208,351 31,247,841 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 1 10,729,933 10,764,865 RGD:9068941
G MPZ myelin protein zero JBrowse link 1 136,691,245 136,720,958 RGD:9068941
G NEFL neurofilament light JBrowse link 8 24,218,510 24,224,627 RGD:9068941
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 1 5,228,681 5,259,554 RGD:9068941
G SCN11A sodium voltage-gated channel alpha subunit 11 JBrowse link 3 38,741,485 38,948,400 RGD:9068941
G SETX senataxin JBrowse link 9 103,381,356 103,474,902 RGD:9068941
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 5 144,412,449 144,490,183 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 107,359,005 107,409,359 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 3 190,890,242 190,995,133 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 2A 56,017,678 56,076,059 RGD:7240710
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 2B 62,074,405 62,283,013 RGD:9068941
G MAFB MAF bZIP transcription factor B JBrowse link 20 37,023,988 37,027,446 RGD:9068941
G SALL4 spalt like transcription factor 4 JBrowse link 20 48,130,387 48,150,569 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 20 37,023,988 37,027,446 RGD:9068941
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 2B 62,074,405 62,283,013 RGD:7240710
Duane Retraction Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAFB MAF bZIP transcription factor B JBrowse link 20 37,023,988 37,027,446 RGD:7240710
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MECR mitochondrial trans-2-enoyl-CoA reductase JBrowse link 1 28,463,466 28,501,518 RGD:7240710
episodic ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 19 12,769,586 13,189,022 RGD:7240710
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FDX2 ferredoxin 2 JBrowse link 19 9,860,316 9,866,442 RGD:7240710
G SLC25A4 solute carrier family 25 member 4 JBrowse link 4 177,310,982 177,315,016 RGD:9068941
G SLC25A42 solute carrier family 25 member 42 JBrowse link 19 18,501,567 18,550,368 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 5 131,420,403 131,455,265 RGD:7240710
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TFAP2A transcription factor AP-2 alpha JBrowse link 6 10,237,834 10,260,843 RGD:9068941
Facial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADCYAP1 adenylate cyclase activating polypeptide 1 JBrowse link 18 13,414,618 13,421,668 RGD:9068941
G ATF2 activating transcription factor 2 JBrowse link 2B 62,348,245 62,444,428 RGD:9068941
G CCR3 C-C motif chemokine receptor 3 JBrowse link 3 46,147,928 46,172,947 RGD:9068941
G CD59 CD59 molecule (CD59 blood group) JBrowse link 11 33,680,580 33,708,479 RGD:9068941
G CSF1 colony stimulating factor 1 JBrowse link 1 112,555,755 112,575,894 RGD:9068941
G CTSS cathepsin S JBrowse link 1 126,084,249 126,118,221 RGD:9068941
G GFRA1 GDNF family receptor alpha 1 JBrowse link 10 112,645,574 112,862,413 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 7 73,667,618 73,738,960 RGD:9068941
G MT3 metallothionein 3 JBrowse link 16 36,875,919 36,877,558 RGD:9068941
G NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 JBrowse link 7 115,547,062 115,563,948 RGD:9068941
G RET ret proto-oncogene JBrowse link 10 40,050,396 40,103,629 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 18 1,998,428 2,020,202 RGD:7240710
facial paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MMP9 matrix metallopeptidase 9 JBrowse link 20 42,346,305 42,354,018 RGD:9068941
G POMC proopiomelanocortin JBrowse link 2A 25,161,668 25,165,600 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 18 45,717,924 46,913,998 RGD:9068941
G ROBO3 roundabout guidance receptor 3 JBrowse link 11 119,692,232 119,708,309 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 11 119,692,232 119,708,309 RGD:7240710
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCC DCC netrin 1 receptor JBrowse link 18 45,717,924 46,913,998 RGD:7240710
Foveal Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATOH7 atonal bHLH transcription factor 7 JBrowse link 10 64,714,546 64,716,341 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 14 4,858,105 4,891,207 RGD:9068941
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 42,477,467 42,546,814 RGD:9068941
G SLC38A8 solute carrier family 38 member 8 JBrowse link 16 64,676,787 64,709,083 RGD:9068941
G TYR tyrosinase JBrowse link 11 84,188,557 84,306,686 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 16 64,676,787 64,709,083 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 2A 69,054,253 69,290,554 RGD:7240710
Hereditary Congenital Facial Paresis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXB1 homeobox B1 JBrowse link 17 9,005,745 9,008,230 RGD:9068941
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXB1 homeobox B1 JBrowse link 17 9,005,745 9,008,230 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 33,967,329 34,374,385 RGD:9068941
G TMEM126A transmembrane protein 126A JBrowse link 11 80,703,855 80,712,459 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 21 13,270,668 13,279,217 RGD:9068941
G AIF1 allograft inflammatory factor 1 JBrowse link 6 31,276,215 31,278,051 RGD:9068941
G CSNK2B casein kinase 2 beta JBrowse link 6 31,327,250 31,331,250 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 4 115,005,136 115,076,369 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 37,713,133 37,773,098 RGD:9068941
G GFRA1 GDNF family receptor alpha 1 JBrowse link 10 112,645,574 112,862,413 RGD:9068941
G IL1R1 interleukin 1 receptor type 1 RGD:9068941
G LOC100977237 thioredoxin reductase 1, cytoplasmic JBrowse link 12 101,862,703 101,925,104 RGD:9068941
G MCAM melanoma cell adhesion molecule JBrowse link 11 114,149,583 114,158,234 RGD:9068941
G MME membrane metalloendopeptidase JBrowse link 3 152,085,694 152,240,148 RGD:9068941
G PRKACA protein kinase cAMP-activated catalytic subunit alpha JBrowse link 19 13,657,344 13,683,864 RGD:9068941
G PRKACB protein kinase cAMP-activated catalytic subunit beta JBrowse link 1 116,625,640 116,786,396 RGD:9068941
G RET ret proto-oncogene JBrowse link 10 40,050,396 40,103,629 RGD:9068941
G SMAD1 SMAD family member 1 JBrowse link 4 137,822,269 137,899,700 RGD:9068941
G SMAD2 SMAD family member 2 JBrowse link 18 41,213,001 41,309,902 RGD:9068941
G SMAD3 SMAD family member 3 JBrowse link 15 46,013,764 46,143,126 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 18 44,402,112 44,456,779 RGD:9068941
G SMAD7 SMAD family member 7 JBrowse link 18 42,306,324 42,337,214 RGD:9068941
G SMAD9 SMAD family member 9 JBrowse link 13 18,055,427 18,130,571 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 9 34,924,399 34,931,077 RGD:9068941
G GAS7 growth arrest specific 7 JBrowse link 17 41,454,100 41,743,777 RGD:9068941
G GLP2R glucagon like peptide 2 receptor JBrowse link 17 41,764,686 41,830,966 RGD:9068941
G LOC103786029 myosin-4 JBrowse link 17 41,183,808 41,209,774 RGD:9068941
G MYH1 myosin heavy chain 1 JBrowse link 17 41,134,861 41,161,226 RGD:9068941
G MYH13 myosin heavy chain 13 JBrowse link 17 41,288,536 41,351,827 RGD:9068941
G MYH2 myosin heavy chain 2 JBrowse link 17 41,103,730 41,132,264 RGD:7240710
G MYH8 myosin heavy chain 8 JBrowse link 17 41,231,081 41,262,671 RGD:9068941
G RCVRN recoverin JBrowse link 17 41,747,255 41,759,074 RGD:9068941
G VCP valosin containing protein JBrowse link 9 34,907,147 34,923,227 RGD:9068941
infantile cerebellar-retinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACO2 aconitase 2 JBrowse link 22 22,363,178 22,423,041 RGD:7240710
G POLR3H RNA polymerase III subunit H JBrowse link 22 22,419,887 22,438,539 RGD:9068941
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 11 114,179,998 114,187,761 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 11 114,179,998 114,187,716 RGD:7240710
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 14 41,113,282 41,117,018 RGD:9068941
IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SALL4 spalt like transcription factor 4 JBrowse link 20 48,130,387 48,150,569 RGD:7240710
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHI1 Abelson helper integration site 1 JBrowse link 6 133,055,026 133,273,591 RGD:7240710
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C12H12orf29 chromosome 12 C12orf29 homolog JBrowse link 12 85,576,750 85,591,510 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 12 85,589,911 85,683,365 RGD:7240710
Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM67 transmembrane protein 67 JBrowse link 8 90,378,623 90,442,904 RGD:7240710
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPGRIP1 RPGR interacting protein 1 JBrowse link 14 2,105,703 2,169,362 RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 16 33,836,361 33,939,265 RGD:7240710
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1A interleukin 1 alpha JBrowse link 2A 89,273,482 89,284,421 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 89,216,313 89,223,358 RGD:9068941
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 4 18,196,431 18,876,889 RGD:9068941
Leber hereditary optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOA4 apolipoprotein A4 JBrowse link 11 111,659,186 111,661,790 RGD:9068941
G EPHX1 epoxide hydrolase 1 JBrowse link 1 201,271,366 201,306,635 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 2A 89,273,482 89,284,421 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 89,216,313 89,223,358 RGD:9068941
G LRAT lecithin retinol acyltransferase JBrowse link 4 147,110,568 147,119,706 RGD:9068941
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 1 136,609,822 136,626,851 RGD:9068941
G PARL presenilin associated rhomboid like JBrowse link 3 180,862,434 180,921,197 RGD:9068941
G RDH12 retinol dehydrogenase 12 JBrowse link 14 48,297,854 48,314,502 RGD:9068941
G RPE65 retinoid isomerohydrolase RPE65 JBrowse link 1 67,666,784 67,687,891 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 14 2,105,703 2,169,362 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 157,562,814 157,610,155 RGD:9068941
G TP53 tumor protein p53 JBrowse link 17 7,699,449 7,717,812 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 20 13,751,315 13,788,024 RGD:9068941
low tension glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB1 adrenoceptor beta 1 JBrowse link 10 110,642,491 110,646,595 RGD:9068941
G APOE apolipoprotein E JBrowse link 19 41,853,669 41,857,252 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 11 27,618,322 27,687,661 RGD:9068941
G CAV1 caveolin 1 JBrowse link 7 108,497,125 108,533,090 RGD:9068941
G CAV2 caveolin 2 JBrowse link 7 108,254,074 108,480,716 RGD:9068941
G CRP C-reactive protein JBrowse link 1 135,062,102 135,064,402 RGD:9068941
G EDN1 endothelin 1 JBrowse link 6 12,076,312 12,142,861 RGD:9068941
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 2B 84,729,615 84,743,352 RGD:9068941
G MYOC myocilin JBrowse link 1 147,128,541 147,146,227 RGD:9068941
G OPTN optineurin JBrowse link 10 13,104,335 13,142,725 RGD:9068941
G SLC1A1 solute carrier family 1 member 1 JBrowse link 9 4,323,124 4,420,193 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 18,029,831 18,037,526 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 88,827,495 88,840,458 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 31,236,650 31,239,423 RGD:9068941
G TP53 tumor protein p53 JBrowse link 17 7,699,449 7,717,812 RGD:9068941
macular retinal edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APOH apolipoprotein H JBrowse link 17 60,154,389 60,171,762 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,528,154 22,530,091 RGD:9068941
G CLU clusterin JBrowse link 8 26,867,973 26,884,838 RGD:9068941
G EPO erythropoietin JBrowse link 7 92,747,671 92,750,886 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 4 115,005,136 115,076,369 RGD:9068941
G FLT1 fms related receptor tyrosine kinase 1 JBrowse link 13 9,584,850 9,779,542 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,415,922 23,420,767 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 4 68,813,894 68,861,018 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 36,399,868 36,424,953 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 7 142,577,334 142,600,702 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 17 1,745,597 1,761,399 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 43,361,053 43,377,366 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 6 105,302,531 105,472,674 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 54,043,329 54,162,351 RGD:7240710
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RYR1 ryanodine receptor 1 JBrowse link 19 35,527,466 35,685,446 RGD:7240710
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGME1 mitochondrial genome maintenance exonuclease 1 JBrowse link 20 17,928,751 17,950,907 RGD:7240710
Mobius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 JBrowse link 11 125,220,258 125,244,841 RGD:9068941
G AMH anti-Mullerian hormone JBrowse link 19 1,260,219 1,263,395 RGD:9068941
G BCDIN3D BCDIN3 domain containing RNA methyltransferase JBrowse link 12 38,907,254 38,913,958 RGD:9068941
G CDH11 cadherin 11 JBrowse link 16 45,261,269 45,436,597 RGD:9068941
G EBF3 EBF transcription factor 3 JBrowse link 10 126,432,326 126,561,328 RGD:9068941
G FAM71A family with sequence similarity 71 member A JBrowse link 1 188,192,581 188,194,867 RGD:9068941
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 2B 83,445,401 83,838,065 RGD:9068941
G HSPB7 heat shock protein family B (small) member 7 JBrowse link 1 15,151,471 15,156,234 RGD:9068941
G INTS6L integrator complex subunit 6 like JBrowse link X 124,668,300 124,730,118 RGD:9068941
G MRPL28 mitochondrial ribosomal protein L28 RGD:9068941
G PLCB2 phospholipase C beta 2 JBrowse link 15 19,218,329 19,241,977 RGD:9068941
G PTCH2 patched 2 JBrowse link 1 44,125,693 44,147,462 RGD:9068941
G SIM1 SIM bHLH transcription factor 1 JBrowse link 6 98,221,476 98,301,215 RGD:9068941
G ZNF787 zinc finger protein 787 JBrowse link 19 53,108,545 53,143,475 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 9 76,417,869 76,612,233 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 4 41,312,389 41,384,924 RGD:7240710
neurofibromatosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NF2 neurofibromin 2 JBrowse link 22 10,648,022 10,738,167 RGD:7240710
G VEGFA vascular endothelial growth factor A JBrowse link 6 43,361,053 43,377,366 RGD:9068941
neuromyelitis optica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP4 aquaporin 4 JBrowse link 18 20,108,607 20,122,381 RGD:9068941
G CD59 CD59 molecule (CD59 blood group) JBrowse link 11 33,680,580 33,708,479 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 17 12,407,211 12,417,072 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,415,922 23,420,767 RGD:9068941
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain JBrowse link 6 32,237,395 32,244,201 RGD:9068941
G MBP myelin basic protein JBrowse link 18 70,369,882 70,526,693 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 42,346,305 42,354,018 RGD:9068941
G NEFH neurofilament heavy JBrowse link 22 10,525,738 10,536,788 RGD:9068941
G S100B S100 calcium binding protein B JBrowse link 21 33,063,845 33,070,073 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 17 57,556,294 57,577,294 RGD:9068941
G CRP C-reactive protein JBrowse link 1 135,062,102 135,064,402 RGD:9068941
G F5 coagulation factor V JBrowse link 1 144,996,757 145,070,046 RGD:9068941
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 17 4,980,083 4,983,219 RGD:7240710
RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,134,450 10,194,596 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 10,548,196 10,568,174 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 11 31,473,439 31,754,446 RGD:9068941
G PAX6 paired box 6 JBrowse link 11 31,753,190 31,782,225 RGD:7240710
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGM6 transglutaminase 6 JBrowse link 20 2,509,000 2,543,650 RGD:9068941
Oculomotor Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 9 39,663,986 40,208,770 RGD:9068941
olfactory neuroblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 14 42,295,691 42,348,478 RGD:9068941
ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGME1 mitochondrial genome maintenance exonuclease 1 JBrowse link 20 17,928,751 17,950,907 RGD:9068941
G MYF5 myogenic factor 5 JBrowse link 12 78,236,945 78,239,701 RGD:9068941
G NPC1 NPC intracellular cholesterol transporter 1 JBrowse link 18 16,783,096 16,838,301 RGD:9068941
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POMC proopiomelanocortin JBrowse link 2A 25,161,668 25,165,600 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 18 1,951,279 1,999,313 RGD:9068941
G CYRIA CYFIP related Rac1 interactor A JBrowse link 2A 16,532,230 16,642,397 RGD:9068941
G DDX1 DEAD-box helicase 1 JBrowse link 2A 15,582,499 15,619,751 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 12 53,476,553 53,541,421 RGD:9068941
G LOC100995589 uncharacterized LOC100995589 JBrowse link 2A 15,923,366 15,926,680 RGD:9068941
G MECR mitochondrial trans-2-enoyl-CoA reductase JBrowse link 1 28,463,466 28,501,518 RGD:9068941
G MYCN MYCN proto-oncogene, bHLH transcription factor JBrowse link 2A 15,925,130 15,931,605 RGD:9068941
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 11 47,528,680 47,534,206 RGD:9068941
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 1 8,712,798 8,753,027 RGD:9068941
G OAT ornithine aminotransferase JBrowse link 10 120,955,805 120,977,484 RGD:9068941
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 190,890,242 190,995,133 RGD:9068941
G SLBP stem-loop binding protein JBrowse link 4 1,830,247 1,849,890 RGD:9068941
G SLC25A46 solute carrier family 25 member 46 JBrowse link 5 106,106,112 106,132,355 RGD:9068941
G TBCD tubulin folding cofactor D JBrowse link 17 77,170,966 77,371,078 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein RGD:9068941
optic atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 190,890,242 190,995,133 RGD:7240710
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 42,477,467 42,546,814 RGD:9068941
G WFS1 wolframin ER transmembrane glycoprotein RGD:9068941
optic atrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RTN4IP1 reticulon 4 interacting protein 1 JBrowse link 6 104,368,222 104,444,583 RGD:7240710
optic atrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G YME1L1 YME1 like 1 ATPase JBrowse link 10 27,220,951 27,263,841 RGD:7240710
optic atrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 42,477,467 42,546,814 RGD:7240710
optic atrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM1L dynamin 1 like JBrowse link 12 53,476,553 53,541,421 RGD:7240710
G YARS2 tyrosyl-tRNA synthetase 2 JBrowse link 12 53,463,086 53,493,352 RGD:9068941
optic atrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM126A transmembrane protein 126A JBrowse link 11 80,703,855 80,712,459 RGD:7240710
optic atrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACO2 aconitase 2 JBrowse link 22 22,363,178 22,423,041 RGD:7240710
G GREB1L GREB1 like retinoic acid receptor coactivator JBrowse link 18 14,482,493 14,763,789 RGD:9068941
G POLR3H RNA polymerase III subunit H JBrowse link 22 22,419,887 22,438,539 RGD:9068941
Optic Nerve Aplasia, Bilateral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAX6 paired box 6 JBrowse link 11 31,753,190 31,782,225 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 6 31,828,363 31,831,981 RGD:9068941
G EDN1 endothelin 1 JBrowse link 6 12,076,312 12,142,861 RGD:9068941
G KARS1 lysyl-tRNA synthetase 1 JBrowse link 16 56,196,867 56,216,909 RGD:9068941
G PAX6 paired box 6 JBrowse link 11 31,753,190 31,782,225 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 3 39,158,346 39,176,604 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 17 25,425,081 25,703,689 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 3 178,744,881 178,747,392 RGD:9068941
Optic Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP activity dependent neuroprotector homeobox JBrowse link 20 47,233,696 47,276,075 RGD:9068941
G AMIGO3 adhesion molecule with Ig like domain 3 JBrowse link 3 49,648,967 49,652,285 RGD:9068941
G AQP4 aquaporin 4 JBrowse link 18 20,108,607 20,122,381 RGD:9068941
G AQP9 aquaporin 9 JBrowse link 15 37,107,061 37,154,887 RGD:9068941
G ARG2 arginase 2 JBrowse link 14 48,197,831 48,231,829 RGD:9068941
G ATF2 activating transcription factor 2 JBrowse link 2B 62,348,245 62,444,428 RGD:9068941
G BAX BCL2 associated X, apoptosis regulator JBrowse link 19 45,955,926 45,962,870 RGD:9068941
G BCL2 BCL2 apoptosis regulator JBrowse link 18 56,481,212 56,679,012 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 11 27,618,322 27,687,661 RGD:9068941
G C3 complement C3 JBrowse link 19 5,708,211 5,753,178 RGD:9068941
G CDK2 cyclin dependent kinase 2 JBrowse link 12 32,940,225 32,946,236 RGD:9068941
G CFL1 cofilin 1 JBrowse link 11 61,215,092 61,218,628 RGD:9068941
G CLU clusterin JBrowse link 8 26,867,973 26,884,838 RGD:9068941
G CSF3 colony stimulating factor 3 JBrowse link 17 17,271,074 17,273,493 RGD:9068941
G CTSB cathepsin B JBrowse link 8 7,333,498 7,359,264 RGD:9068941
G EDN1 endothelin 1 JBrowse link 6 12,076,312 12,142,861 RGD:9068941
G EDNRA endothelin receptor type A JBrowse link 4 139,815,336 139,879,600 RGD:9068941
G EDNRB endothelin receptor type B JBrowse link 13 59,112,349 59,136,615 RGD:9068941
G EP300 E1A binding protein p300 JBrowse link 22 21,986,467 22,076,921 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 4 115,005,136 115,076,369 RGD:9068941
G GDNF glial cell derived neurotrophic factor JBrowse link 5 72,539,374 72,566,918 RGD:9068941
G GFRA1 GDNF family receptor alpha 1 JBrowse link 10 112,645,574 112,862,413 RGD:9068941
G GFRA2 GDNF family receptor alpha 2 JBrowse link 8 20,935,512 21,033,571 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 7 73,667,618 73,738,960 RGD:9068941
G IGF1R insulin like growth factor 1 receptor JBrowse link 15 77,332,926 77,648,474 RGD:9068941
G JUN Jun proto-oncogene, AP-1 transcription factor subunit JBrowse link 1 58,042,794 58,045,536 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 1 135,391,321 135,424,100 RGD:9068941
G NAMPT nicotinamide phosphoribosyltransferase JBrowse link 7 98,227,071 98,262,254 RGD:9068941
G NEFM neurofilament medium JBrowse link 8 24,181,335 24,186,701 RGD:9068941
G NEO1 neogenin 1 JBrowse link 15 51,968,238 52,221,116 RGD:9068941
G NGFR nerve growth factor receptor JBrowse link 17 8,089,600 8,109,361 RGD:9068941
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 9 39,663,986 40,208,770 RGD:9068941
G PAWR pro-apoptotic WT1 regulator JBrowse link 12 77,114,282 77,224,116 RGD:9068941
G PAX6 paired box 6 JBrowse link 11 31,753,190 31,782,225 RGD:9068941
G PDGFB platelet derived growth factor subunit B JBrowse link 22 20,127,223 20,148,407 RGD:9068941
G PECAM1 platelet and endothelial cell adhesion molecule 1 JBrowse link 17 58,417,134 58,526,409 RGD:9068941
G PLAU plasminogen activator, urokinase JBrowse link 10 70,433,340 70,441,569 RGD:9068941
G PTPN5 protein tyrosine phosphatase non-receptor type 5 JBrowse link 11 18,758,285 18,822,845 RGD:9068941
G RHOA ras homolog family member A JBrowse link 3 49,282,009 49,339,887 RGD:9068941
G SNW1 SNW domain containing 1 JBrowse link 14 58,271,830 58,315,773 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 88,827,495 88,840,458 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,457,617 6,470,969 RGD:9068941
G TRADD TNFRSF1A associated via death domain JBrowse link 16 47,499,881 47,506,220 RGD:9068941
G YBX3 Y-box binding protein 3 JBrowse link 12 10,728,049 10,752,267 RGD:9068941
optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP4 aquaporin 4 JBrowse link 18 20,108,607 20,122,381 RGD:9068941
G CAPN1 calpain 1 JBrowse link 11 60,545,837 60,576,631 RGD:9068941
G CAT catalase JBrowse link 11 34,413,253 34,446,831 RGD:9068941
G CCR5 C-C motif chemokine receptor 5 JBrowse link 3 46,273,096 46,278,471 RGD:9068941
G CSPG4 chondroitin sulfate proteoglycan 4 JBrowse link 15 54,583,010 54,621,240 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 RGD:9068941
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain JBrowse link 6 32,237,395 32,244,201 RGD:9068941
G MOG myelin oligodendrocyte glycoprotein JBrowse link 6 29,461,174 29,476,362 RGD:9068941
G NEFH neurofilament heavy JBrowse link 22 10,525,738 10,536,788 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 157,562,814 157,610,155 RGD:9068941
pathologic nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP290 centrosomal protein 290 JBrowse link 12 85,589,911 85,683,365 RGD:9068941
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 8 83,269,589 83,439,999 RGD:9068941
G COL18A1 collagen type XVIII alpha 1 chain JBrowse link 21 31,720,358 31,834,470 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 1 490,415 596,826 RGD:9068941
G GPR143 G protein-coupled receptor 143 JBrowse link X 2,357,835 2,398,389 RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 17 8,037,301 8,051,478 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 36,399,868 36,424,953 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 14 2,105,703 2,169,362 RGD:9068941
G SLC19A1 solute carrier family 19 member 1 JBrowse link 21 31,836,774 31,883,829 RGD:9068941
G TFAP2A transcription factor AP-2 alpha JBrowse link 6 10,237,834 10,260,843 RGD:9068941
G TMEM67 transmembrane protein 67 JBrowse link 8 90,378,623 90,442,904 RGD:9068941
G TYR tyrosinase JBrowse link 11 84,188,557 84,306,686 RGD:9068941
PEHO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC88A coiled-coil domain containing 88A JBrowse link 2A 55,445,060 55,576,479 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 99,986,887 100,066,773 RGD:9068941
G KIF1A kinesin family member 1A JBrowse link 2B 127,969,494 128,078,282 RGD:9068941
G ZNHIT3 zinc finger HIT-type containing 3 JBrowse link 17 20,583,614 20,595,332 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 1 210,881,078 211,008,686 RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FANCI FA complementation group I JBrowse link 15 67,935,882 68,009,033 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 68,008,214 68,028,241 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 10 97,588,811 97,595,663 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 2A 87,688,732 87,759,580 RGD:9068941
G MAP2K6 mitogen-activated protein kinase kinase 6 JBrowse link 17 63,342,720 63,483,926 RGD:9068941
G MAPT microtubule associated protein tau JBrowse link 17 11,373,220 11,506,669 RGD:7240710
RGD:9068941
G MOBP myelin associated oligodendrocyte basic protein JBrowse link 3 39,372,102 39,450,066 RGD:9068941
G NAT2 N-acetyltransferase 2 JBrowse link 8 17,606,445 17,623,397 RGD:9068941
G OGG1 8-oxoguanine DNA glycosylase JBrowse link 3 9,702,311 9,742,283 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 18,029,831 18,037,526 RGD:9068941
G SRSF2 serine and arginine rich splicing factor 2 JBrowse link 17 70,809,931 70,813,191 RGD:9068941
G STX6 syntaxin 6 JBrowse link 1 156,450,202 156,500,143 RGD:9068941
G TARDBP TAR DNA binding protein JBrowse link 1 9,775,084 9,786,710 RGD:9068941
G TRA2B transformer 2 beta homolog JBrowse link 3 182,942,623 182,963,938 RGD:9068941
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAPT microtubule associated protein tau JBrowse link 17 11,373,220 11,506,669 RGD:7240710
Senior-Loken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT3 AKT serine/threonine kinase 3 JBrowse link 1 219,107,482 219,463,140 RGD:9068941
G C12H12orf29 chromosome 12 C12orf29 homolog JBrowse link 12 85,576,750 85,591,510 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 12 85,589,911 85,683,365 RGD:9068941
G IQCB1 IQ motif containing B1 JBrowse link 3 118,871,589 118,936,591 RGD:9068941
G NPHP1 nephrocystin 1 JBrowse link 2A 91,520,612 91,602,187 RGD:9068941
G NPHP4 nephrocystin 4 JBrowse link 1 4,620,593 4,756,363 RGD:9068941
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 1 218,856,571 219,107,855 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2B 53,140,199 53,220,535 RGD:9068941
G WDR19 WD repeat domain 19 JBrowse link 4 33,511,283 33,616,946 RGD:9068941
Senior-Loken Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP1 nephrocystin 1 JBrowse link 2A 91,520,612 91,602,187 RGD:7240710
Senior-Loken Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP3 nephrocystin 3 JBrowse link 3 129,753,399 129,795,300 RGD:7240710
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP4 nephrocystin 4 JBrowse link 1 4,620,593 4,756,363 RGD:7240710
Senior-Loken Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IQCB1 IQ motif containing B1 JBrowse link 3 118,871,589 118,936,591 RGD:7240710
Senior-Loken Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C12H12orf29 chromosome 12 C12orf29 homolog JBrowse link 12 85,576,750 85,591,510 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 12 85,589,911 85,683,365 RGD:7240710
Senior-Loken Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT3 AKT serine/threonine kinase 3 JBrowse link 1 219,107,482 219,463,140 RGD:9068941
G CEP170 centrosomal protein 170 JBrowse link 1 218,726,142 218,856,585 RGD:9068941
G PLD5 phospholipase D family member 5 JBrowse link 1 217,640,005 218,081,158 RGD:9068941
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 JBrowse link 1 218,856,571 219,107,855 RGD:7240710
Senior-Loken Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR19 WD repeat domain 19 JBrowse link 4 33,511,283 33,616,946 RGD:7240710
Senior-Loken Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 2B 125,558,537 125,637,733 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 9 108,067,633 108,089,742 RGD:9068941
G FANCI FA complementation group I JBrowse link 15 67,935,882 68,009,033 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 68,008,214 68,028,241 RGD:7240710
G PRICKLE2 prickle planar cell polarity protein 2 JBrowse link 3 63,995,566 64,347,679 RGD:9068941
G TWNK twinkle mtDNA helicase JBrowse link 10 97,588,811 97,595,663 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 2A 15,159,193 15,552,121 RGD:7240710
spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 1,951,279 1,999,313 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 19 12,769,586 13,189,022 RGD:9068941
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 5 136,038,575 136,056,400 RGD:9068941
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 17 5,036,659 5,046,146 RGD:9068941
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 10 73,391,297 74,158,488 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 17 5,046,488 5,073,220 RGD:9068941
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAPBPL TAP binding protein like JBrowse link 12 6,582,266 6,592,762 RGD:9068941
G VAMP1 vesicle associated membrane protein 1 JBrowse link 12 6,592,688 6,601,317 RGD:7240710
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C17H17orf107 chromosome 17 C17orf107 homolog JBrowse link 17 4,945,885 4,947,235 RGD:9068941
G CAMTA2 calmodulin binding transcription activator 2 JBrowse link 17 5,016,065 5,036,216 RGD:9068941
G CHRNE cholinergic receptor nicotinic epsilon subunit JBrowse link 17 4,944,046 4,950,288 RGD:9068941
G ENO3 enolase 3 JBrowse link 17 4,997,052 5,005,221 RGD:9068941
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 17 4,980,083 4,983,219 RGD:9068941
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 17 5,036,659 5,046,146 RGD:9068941
G KIF1C kinesin family member 1C JBrowse link 17 5,046,488 5,073,220 RGD:7240710
G PFN1 profilin 1 JBrowse link 17 4,993,853 4,996,811 RGD:9068941
G RNF167 ring finger protein 167 JBrowse link 17 4,988,275 4,993,423 RGD:9068941
G SLC25A11 solute carrier family 25 member 11 JBrowse link 17 4,985,477 4,988,348 RGD:9068941
G SPAG7 sperm associated antigen 7 JBrowse link 17 5,007,303 5,016,018 RGD:9068941
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARS2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 2B 84,954,833 84,957,871 RGD:7240710
G SACS sacsin molecular chaperone JBrowse link 13 4,642,078 4,745,453 RGD:9068941
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTPAP mitochondrial poly(A) polymerase JBrowse link 10 30,463,414 30,500,245 RGD:7240710
spastic ataxia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 1,951,279 1,999,313 RGD:7240710
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX6-2 NK6 homeobox 2 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 15 20,172,874 20,223,382 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 2A 8,720,780 8,837,136 RGD:7240710
strabismus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHCTF1 AT-hook containing transcription factor 1 JBrowse link 1 222,469,006 222,563,635 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 14 34,542,132 34,549,286 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 3 70,893,933 71,523,892 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 1 490,415 596,826 RGD:9068941
G MED13L mediator complex subunit 13L JBrowse link 12 113,531,181 113,850,854 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 17 25,425,081 25,703,689 RGD:9068941
G SIL1 SIL1 nucleotide exchange factor JBrowse link 5 134,325,451 134,573,398 RGD:9068941
G SOX5 SRY-box transcription factor 5 JBrowse link 12 62,361,631 62,780,805 RGD:9068941
Trigeminal Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP53 tumor protein p53 JBrowse link 17 7,699,449 7,717,812 RGD:9068941
trigeminal neuralgia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIF1 allograft inflammatory factor 1 JBrowse link 6 31,276,215 31,278,051 RGD:9068941
G CALCA calcitonin related polypeptide alpha JBrowse link 11 15,055,897 15,061,539 RGD:9068941
G CDK5 cyclin dependent kinase 5 JBrowse link 7 142,640,630 142,644,785 RGD:9068941
G CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 JBrowse link 17 24,285,069 24,289,311 RGD:9068941
G FOS Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 14 55,832,570 55,835,984 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 17 12,407,211 12,417,072 RGD:9068941
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 9 108,198,350 108,228,887 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 89,216,313 89,223,358 RGD:9068941
G MAPK1 mitogen-activated protein kinase 1 JBrowse link 22 3,883,119 3,990,368 RGD:9068941
G MAPK3 mitogen-activated protein kinase 3 RGD:9068941
G MAPK8 mitogen-activated protein kinase 8 JBrowse link 10 45,806,748 45,936,362 RGD:9068941
G MAPK9 mitogen-activated protein kinase 9 JBrowse link 5 175,437,167 175,495,469 RGD:9068941
G PRKCG protein kinase C gamma JBrowse link 19 50,823,372 50,849,003 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 31,236,650 31,239,423 RGD:9068941
vestibular neuronitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRP C-reactive protein JBrowse link 1 135,062,102 135,064,402 RGD:9068941
Vestibulocochlear Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB2 adrenoceptor beta 2 JBrowse link 5 144,259,756 144,398,421 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 27,639,726 27,676,555 RGD:9068941
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 2B 24,692,363 24,810,685 RGD:9068941
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 1 195,720,895 195,842,619 RGD:9068941
G TBC1D20 TBC1 domain family member 20 JBrowse link 20 644,646 670,860 RGD:9068941
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 2B 24,331,731 24,665,652 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 2B 24,692,363 24,810,685 RGD:7240710
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 2B 24,331,731 24,665,652 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 1 195,720,895 195,842,619 RGD:7240710
Warburg micro syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB18 RAB18, member RAS oncogene family JBrowse link 10 27,639,726 27,676,555 RGD:7240710
Warburg micro syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBC1D20 TBC1 domain family member 20 JBrowse link 20 644,646 670,860 RGD:7240710
Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein RGD:9068941
Wolfram syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein RGD:7240710
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CISD2 CDGSH iron sulfur domain 2 JBrowse link 4 95,251,920 95,313,404 RGD:7240710
G SLC9B1 solute carrier family 9 member B1 JBrowse link 4 95,324,597 95,475,599 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 119,256,425 119,292,612 RGD:7240710
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 119,298,428 119,311,625 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 9,988,584 10,359,110 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12214
      nervous system disease 9933
        peripheral nervous system disease 2237
          neuropathy 2077
            cranial nerve disease 369
              Cranial Nerve Injuries + 72
              Cranial Nerves, Congenital Paresis of 0
              Cranial Nerves, Recurrent Paresis of 0
              Ophthalmoplegic Migraine 0
              Vagus nerve disease + 21
              accessory nerve disease + 0
              cranial nerve neoplasm + 15
              cranial nerve palsy + 0
              facial nerve disease + 46
              glossopharyngeal nerve disease + 41
              hypoglossal nerve disease + 19
              jaw-winking syndrome 0
              ocular motility disease + 107
              olfactory nerve disease + 1
              optic nerve disease + 191
              third cranial nerve disease + 2
              trigeminal nerve disease + 15
              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.