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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 optic atrophy 3 JBrowse link 7 19,228,389 19,246,817 RGD:7240710
RGD:8554872
RGD:13592920
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 12 28,594,172 28,623,458 RGD:7240710
RGD:8554872
RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 16 23,451,785 23,521,240 RGD:11554173
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 JBrowse link 18 61,196,854 61,211,596 RGD:8554872
acoustic neuroma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Artn artemin JBrowse link 4 117,925,908 117,930,795 RGD:8655552
G Bdnf brain derived neurotrophic factor JBrowse link 2 109,674,700 109,727,043 RGD:8655552
G Cav1 caveolin 1, caveolae protein JBrowse link 6 17,306,335 17,341,328 RGD:8661782
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) JBrowse link 17 29,090,979 29,100,722 RGD:8661792
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 JBrowse link 7 140,763,819 140,774,990 RGD:1358568
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,017 19,395,694 RGD:5688735
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link 8 25,518,759 25,575,718 RGD:11567268
G Gdnf glial cell line derived neurotrophic factor JBrowse link 15 7,810,048 7,837,580 RGD:8655552
G Igf1 insulin-like growth factor 1 JBrowse link 10 87,858,265 87,937,047 RGD:8548833
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 11 7,206,086 7,215,498 RGD:8548833
G Nf2 neurofibromin 2 JBrowse link 11 4,757,639 4,849,544 RGD:8661792
G Vegfa vascular endothelial growth factor A JBrowse link 17 46,016,993 46,032,377 RGD:8547959
Alazami-Yuan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 5 138,178,617 138,187,451 RGD:8554872
RGD:7240710
anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Becn1 beclin 1, autophagy related JBrowse link 11 101,288,258 101,302,286 RGD:6483070
G Csf3 colony stimulating factor 3 (granulocyte) JBrowse link 11 98,700,183 98,703,631 RGD:11039419
G mt-Nd1 NADH dehydrogenase 1, mitochondrial JBrowse link MT 2,751 3,707 RGD:5490236
G Nos3 nitric oxide synthase 3, endothelial cell JBrowse link 5 24,364,816 24,384,474 RGD:7775040
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA (never in mitosis gene a)-related expressed kinase 9 JBrowse link 12 85,299,514 85,339,362 RGD:8554872
RGD:7240710
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 6 52,155,367 52,160,007 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11554173
RGD:11553818
G Hoxa2 homeobox A2 JBrowse link 6 52,162,417 52,164,831 RGD:8554872
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdxr ferredoxin reductase JBrowse link 11 115,268,024 115,277,101 RGD:8554872
RGD:7240710
autoimmune optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nefh neurofilament, heavy polypeptide JBrowse link 11 4,938,754 4,948,064 RGD:27226805
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci Fanconi anemia, complementation group I JBrowse link 7 79,392,312 79,450,266 RGD:8554872
G Polg polymerase (DNA directed), gamma JBrowse link 7 79,446,231 79,467,911 RGD:7240710
RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 19 45,005,663 45,012,764 RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 JBrowse link 8 46,207,168 46,211,062 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 19 45,005,663 45,012,764 RGD:8554872
RGD:7240710
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Milr1 mast cell immunoglobulin like receptor 1 JBrowse link 11 106,750,646 106,768,794 RGD:8554872
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit JBrowse link 11 106,768,204 106,779,537 RGD:7240710
RGD:8554872
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) JBrowse link 15 37,923,952 37,961,119 RGD:7240710
RGD:8554872
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 62,946,983 62,974,188 RGD:7240710
RGD:8554872
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 5 36,966,104 36,988,982 RGD:7240710
RGD:8554872
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci Fanconi anemia, complementation group I JBrowse link 7 79,392,312 79,450,266 RGD:8554872
G Polg polymerase (DNA directed), gamma JBrowse link 7 79,446,231 79,467,911 RGD:7240710
RGD:8554872
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh1 ribonuclease H1 JBrowse link 12 28,649,601 28,659,592 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2, mitochondrial JBrowse link 8 104,226,691 104,248,592 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 6 83,480,214 83,506,969 RGD:8554872
RGD:7240710
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Top3a topoisomerase (DNA) III alpha JBrowse link 11 60,738,209 60,777,365 RGD:8554872
RGD:7240710
Behr syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 16 29,579,281 29,663,127 RGD:8554872
RGD:7240710
bilateral optic nerve hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 2 105,668,896 105,698,410 RGD:7240710
RGD:8554872
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex, subunit beta 2 (beta prime) JBrowse link 9 98,563,731 98,588,375 RGD:8554872
G E330023G01Rik RIKEN cDNA E330023G01 gene JBrowse link 9 98,748,599 98,820,087 RGD:13592920
G Foxl2 forkhead box L2 JBrowse link 9 98,955,607 98,958,126 RGD:1598958
RGD:8554872
RGD:11554173
RGD:13592920
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 9 98,588,730 98,601,679 RGD:8554872
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 2210408I21Rik RIKEN cDNA 2210408I21 gene JBrowse link 13 77,135,531 77,613,785 RGD:8554872
G Fam172a family with sequence similarity 172, member A JBrowse link 13 77,708,677 78,166,240 RGD:8554872
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 JBrowse link 13 78,188,971 78,198,873 RGD:7240710
RGD:8554872
G Pou5f2 POU domain class 5, transcription factor 2 JBrowse link 13 78,024,902 78,026,296 RGD:8554872
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide JBrowse link 7 24,978,167 25,006,077 RGD:11576280
RGD:8554872
RGD:7240710
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link 2 27,061,636 27,072,161 RGD:8554872
RGD:7240710
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine acetyltransferase JBrowse link 2 30,400,476 30,416,017 RGD:8554872
Cayler Cardiofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 1 14,168,953 14,311,035 RGD:11554173
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci Fanconi anemia, complementation group I JBrowse link 7 79,392,312 79,450,266 RGD:8554872
G Polg polymerase (DNA directed), gamma JBrowse link 7 79,446,231 79,467,911 RGD:8554872
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 1 17,145,373 17,164,271 RGD:7240710
RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 2 32,925,215 32,961,654 RGD:11554173
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 140,456,603 140,476,140 RGD:7240710
RGD:8554872
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankfy1 ankyrin repeat and FYVE domain containing 1 JBrowse link 11 72,690,002 72,772,146 RGD:13592920
G Sacs sacsin JBrowse link 14 61,138,421 61,240,693 RGD:7240710
RGD:8554872
RGD:13592920
G Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein) JBrowse link 14 61,219,106 61,275,062 RGD:8554872
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 160,784,308 160,994,681 RGD:8554872
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 JBrowse link 10 13,961,609 14,151,378 RGD:8554872
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) JBrowse link X 160,765,819 160,799,663 RGD:8554872
G Slc9a6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 JBrowse link X 56,609,556 56,664,230 RGD:7240710
RGD:8554872
RGD:13592920
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 2 129,299,609 129,310,186 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 2 129,364,569 129,371,164 RGD:11554173
G Milr1 mast cell immunoglobulin like receptor 1 JBrowse link 11 106,750,646 106,768,794 RGD:8554872
G mt-Tl1 tRNA leucine 1, mitochondrial JBrowse link MT 2,676 2,750 RGD:8554872
G mt-Ts1 tRNA serine 1, mitochondrial JBrowse link MT 6,870 6,938 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 10 107,482,908 107,486,927 RGD:8554872
G Polg polymerase (DNA directed), gamma JBrowse link 7 79,446,231 79,467,911 RGD:737726
RGD:11554173
RGD:8694204
RGD:8694183
RGD:8694170
RGD:8694163
G Polg2 polymerase (DNA directed), gamma 2, accessory subunit JBrowse link 11 106,768,204 106,779,537 RGD:8554872
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) JBrowse link 15 37,923,952 37,961,119 RGD:8554872
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 JBrowse link 8 46,207,168 46,211,062 RGD:1580622
RGD:8554872
RGD:1580620
G Sod1 superoxide dismutase 1, soluble JBrowse link 16 90,220,762 90,226,333 RGD:11554173
G Sod2 superoxide dismutase 2, mitochondrial JBrowse link 17 13,007,839 13,018,119 RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 19 45,005,663 45,012,764 RGD:1600544
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif21a kinesin family member 21A JBrowse link 15 90,933,275 91,050,382 RGD:1600402
RGD:8554872
RGD:7240710
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phox2a paired-like homeobox 2a JBrowse link 7 101,818,313 101,822,726 RGD:7240710
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb3 tubulin, beta 3 class III JBrowse link 8 123,411,553 123,422,015 RGD:7240710
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif21a kinesin family member 21A JBrowse link 15 90,933,275 91,050,382 RGD:8554872
RGD:11554173
Congenital Fibrosis of Extraocular Muscles, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen, type XXV, alpha 1 JBrowse link 3 130,180,358 130,599,884 RGD:8554872
RGD:7240710
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen, type XXV, alpha 1 JBrowse link 3 130,180,358 130,599,884 RGD:13592920
G Kif21a kinesin family member 21A JBrowse link 15 90,933,275 91,050,382 RGD:8554872
RGD:13592920
G Phox2a paired-like homeobox 2a JBrowse link 7 101,818,313 101,822,726 RGD:13592920
G Tubb3 tubulin, beta 3 class III JBrowse link 8 123,411,553 123,422,015 RGD:13592920
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl-hydrocarbon receptor JBrowse link 12 35,497,979 35,534,989 RGD:11554173
RGD:13592920
G Atf6 activating transcription factor 6 JBrowse link 1 170,704,457 170,868,585 RGD:11554173
G Myo7a myosin VIIA JBrowse link 7 98,051,054 98,119,522 RGD:11537385
G Pax6 paired box 6 JBrowse link 2 105,668,896 105,698,410 RGD:8552281
congenital nystagmus 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd7 FERM domain containing 7 JBrowse link X 50,892,643 50,943,619 RGD:7240710
RGD:8554872
RGD:11554173
congenital nystagmus 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 152,781,921 152,808,651 RGD:7240710
RGD:8554872
Cranial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 14 46,383,525 46,390,669 RGD:2289006
G Cx3cl1 chemokine (C-X3-C motif) ligand 1 JBrowse link 8 94,772,180 94,782,427 RGD:4891994
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 134,537,256 134,541,670 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
distal arthrogryposis type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 63,010,213 63,387,716 RGD:7240710
RGD:8554872
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 58,497,699 58,576,244 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 10 58,600,780 58,675,696 RGD:8554872
G Gcc2 GRIP and coiled-coil domain containing 2 JBrowse link 10 58,255,408 58,305,599 RGD:8554872
G Lims1 LIM and senescent cell antigen-like domains 1 JBrowse link 10 58,323,342 58,424,691 RGD:8554872
G Ranbp2 RAN binding protein 2 JBrowse link 10 58,446,852 58,494,155 RGD:8554872
G Slc5a7 solute carrier family 5 (choline transporter), member 7 JBrowse link 17 54,273,590 54,299,038 RGD:7240710
RGD:8554872
G Sult1c1 sulfotransferase family, cytosolic, 1C, member 1 JBrowse link 17 53,961,615 53,990,631 RGD:8554872
G Sult1c2 sulfotransferase family, cytosolic, 1C, member 2 JBrowse link 17 53,829,637 53,845,958 RGD:8554872
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dctn1 dynactin 1 JBrowse link 6 83,165,909 83,200,118 RGD:7240710
RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 12 110,601,395 110,666,944 RGD:8554872
G Gars glycyl-tRNA synthetase JBrowse link 6 55,038,001 55,079,504 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 4 147,873,586 147,904,909 RGD:8554872
G Mpz myelin protein zero JBrowse link 1 171,150,713 171,161,130 RGD:8554872
G Nefl neurofilament, light polypeptide JBrowse link 14 68,083,863 68,089,095 RGD:8554872
G Plekhg5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 JBrowse link 4 152,072,433 152,115,404 RGD:8554872
G Scn11a sodium channel, voltage-gated, type XI, alpha JBrowse link 9 119,753,763 119,825,456 RGD:8554872
G Setx senataxin JBrowse link 2 29,123,588 29,182,471 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 61,952,928 62,015,719 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 5 114,622,152 114,658,435 RGD:8554872
dominant optic atrophy plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 16 29,579,281 29,663,127 RGD:7240710
RGD:8554872
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 JBrowse link 11 28,853,154 28,926,743 RGD:1598888
RGD:8554872
RGD:13592920
RGD:10401794
RGD:10401791
RGD:7240710
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 2 73,610,660 73,775,367 RGD:8554872
RGD:13592920
RGD:11554173
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) JBrowse link 2 160,363,677 160,367,065 RGD:13592920
RGD:11554173
G Sall4 spalt like transcription factor 4 JBrowse link 2 168,748,332 168,767,201 RGD:11556210
RGD:11554173
RGD:11532205
RGD:11556232
RGD:11556231
RGD:11556215
RGD:11556211
Duane Retraction Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) JBrowse link 2 160,363,677 160,367,065 RGD:8554872
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 2 73,610,660 73,775,367 RGD:8554872
RGD:7240710
Duane Retraction Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) JBrowse link 2 160,363,677 160,367,065 RGD:8554872
RGD:7240710
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecr mitochondrial trans-2-enoyl-CoA reductase JBrowse link 4 131,843,444 131,867,787 RGD:8554872
RGD:7240710
episodic ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit JBrowse link 8 84,338,631 84,640,251 RGD:1358446
RGD:8554872
RGD:13592920
RGD:11554173
RGD:7240710
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdx2 ferredoxin 2 JBrowse link 9 21,067,512 21,073,531 RGD:7240710
G mt-Te tRNA glutamic acid, mitochondrial JBrowse link MT 14,071 14,139 RGD:8554872
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 JBrowse link 8 46,207,168 46,211,062 RGD:8554872
G Slc25a42 solute carrier family 25, member 42 JBrowse link 8 70,184,340 70,212,281 RGD:8554872
epithelial basement membrane dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 13 56,609,586 56,639,359 RGD:7240710
RGD:8554872
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfap2a transcription factor AP-2, alpha JBrowse link 13 40,713,802 40,738,238 RGD:8554872
Facial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcyap1 adenylate cyclase activating polypeptide 1 JBrowse link 17 93,198,245 93,206,541 RGD:2325258
G Atf2 activating transcription factor 2 JBrowse link 2 73,816,509 73,892,677 RGD:10047413
G Ccr3 chemokine (C-C motif) receptor 3 JBrowse link 9 124,017,825 124,031,692 RGD:6892922
G Cd59a CD59a antigen JBrowse link 2 104,095,753 104,115,410 RGD:1600495
G Cd59b CD59b antigen JBrowse link 2 104,069,781 104,085,790 RGD:9068941
G Csf1 colony stimulating factor 1 (macrophage) JBrowse link 3 107,741,048 107,760,469 RGD:5131509
G Ctss cathepsin S JBrowse link 3 95,526,786 95,556,405 RGD:5686912
G Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 JBrowse link 19 58,235,581 58,455,946 RGD:6218984
G Hgf hepatocyte growth factor JBrowse link 5 16,553,495 16,619,439 RGD:8548634
G Mt3 metallothionein 3 JBrowse link 8 94,152,607 94,154,148 RGD:9685806
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 JBrowse link 6 24,518,662 24,527,690 RGD:2302319
G Ret ret proto-oncogene JBrowse link 6 118,151,748 118,197,744 RGD:6218984
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb6 tubulin, beta 6 class V JBrowse link 18 67,390,731 67,402,749 RGD:8554872
RGD:7240710
facial paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp9 matrix metallopeptidase 9 JBrowse link 2 164,940,326 164,955,850 RGD:8547852
G Pomc pro-opiomelanocortin-alpha JBrowse link 12 3,954,945 3,960,643 RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc deleted in colorectal carcinoma JBrowse link 18 71,253,613 72,351,228 RGD:11554173
G Robo3 roundabout guidance receptor 3 JBrowse link 9 37,416,045 37,433,436 RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Robo3 roundabout guidance receptor 3 JBrowse link 9 37,416,045 37,433,436 RGD:7240710
RGD:8554872
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc deleted in colorectal carcinoma JBrowse link 18 71,253,613 72,351,228 RGD:8554872
RGD:7240710
Foveal Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atoh7 atonal bHLH transcription factor 7 JBrowse link 10 63,099,785 63,101,280 RGD:8554872
G Nrl neural retina leucine zipper gene JBrowse link 14 55,518,978 55,524,981 RGD:8554872
G Opa3 optic atrophy 3 JBrowse link 7 19,228,389 19,246,817 RGD:8554872
G Slc38a8 solute carrier family 38, member 8 JBrowse link 8 119,479,574 119,501,698 RGD:8554872
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:8554872
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc38a8 solute carrier family 38, member 8 JBrowse link 8 119,479,574 119,501,698 RGD:7240710
RGD:8554872
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Antxr1 anthrax toxin receptor 1 JBrowse link 6 87,133,853 87,335,809 RGD:9684854
RGD:8554872
RGD:7240710
Hereditary Congenital Facial Paresis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxb1 homeobox B1 JBrowse link 11 96,365,746 96,368,254 RGD:11554173
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxb1 homeobox B1 JBrowse link 11 96,365,746 96,368,254 RGD:7240710
RGD:8554872
Hereditary Optic Atrophies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin-dependent serine protein kinase (MAGUK family) JBrowse link X 13,517,080 13,846,783 RGD:734690
G mt-Nd4 NADH dehydrogenase 4, mitochondrial JBrowse link MT 10,167 11,544 RGD:11554173
G mt-Nd6 NADH dehydrogenase 6, mitochondrial JBrowse link MT 13,552 14,070 RGD:11554173
G Tmem126a transmembrane protein 126A JBrowse link 7 90,450,700 90,457,203 RGD:8554872
Hypoglossal Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts1 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 1 JBrowse link 16 85,793,827 85,803,113 RGD:5037239
G Aif1 allograft inflammatory factor 1 JBrowse link 17 35,170,986 35,176,083 RGD:704401
G Csnk2b casein kinase 2, beta polypeptide JBrowse link 17 35,116,195 35,122,053 RGD:11565824
G Fgf2 fibroblast growth factor 2 JBrowse link 3 37,348,477 37,410,106 RGD:8655640
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link 8 25,518,759 25,575,718 RGD:8655640
G Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 JBrowse link 19 58,235,581 58,455,946 RGD:6218979
G Il1r1 interleukin 1 receptor, type I JBrowse link 1 40,222,480 40,316,201 RGD:5037239
G Mcam melanoma cell adhesion molecule JBrowse link 9 44,134,658 44,142,727 RGD:7364787
G Mme membrane metallo endopeptidase JBrowse link 3 63,295,211 63,383,713 RGD:13801045
G Prkaca protein kinase, cAMP dependent, catalytic, alpha JBrowse link 8 83,972,978 83,996,444 RGD:7327191
G Prkacb protein kinase, cAMP dependent, catalytic, beta JBrowse link 3 146,729,579 146,812,946 RGD:7327191
G Ret ret proto-oncogene JBrowse link 6 118,151,748 118,197,744 RGD:6218979
G Smad1 SMAD family member 1 JBrowse link 8 79,338,395 79,399,428 RGD:1643227
G Smad2 SMAD family member 2 JBrowse link 18 76,241,090 76,311,748 RGD:1643227
G Smad3 SMAD family member 3 JBrowse link 9 63,646,766 63,757,994 RGD:1643227
G Smad4 SMAD family member 4 JBrowse link 18 73,634,790 73,703,791 RGD:1643227
G Smad7 SMAD family member 7 JBrowse link 18 75,367,365 75,395,935 RGD:1643227
G Smad9 SMAD family member 9 JBrowse link 3 54,755,455 54,801,662 RGD:1643227
G Txnrd1 thioredoxin reductase 1 JBrowse link 10 82,833,951 82,897,724 RGD:5133729
Inclusion Body Myopathy 3, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancg Fanconi anemia, complementation group G JBrowse link 4 43,002,337 43,010,567 RGD:8554872
G Gas7 growth arrest specific 7 JBrowse link 11 67,453,257 67,688,992 RGD:8554872
G Glp2r glucagon-like peptide 2 receptor JBrowse link 11 67,664,156 67,771,184 RGD:8554872
G Myh1 myosin, heavy polypeptide 1, skeletal muscle, adult JBrowse link 11 67,200,102 67,224,577 RGD:8554872
G Myh13 myosin, heavy polypeptide 13, skeletal muscle JBrowse link 11 67,327,103 67,371,587 RGD:8554872
G Myh2 myosin, heavy polypeptide 2, skeletal muscle, adult JBrowse link 11 67,171,027 67,197,517 RGD:7240710
RGD:8554872
G Myh4 myosin, heavy polypeptide 4, skeletal muscle JBrowse link 11 67,237,812 67,260,447 RGD:8554872
G Myh8 myosin, heavy polypeptide 8, skeletal muscle, perinatal JBrowse link 11 67,277,124 67,308,634 RGD:8554872
G Myhas myosin heavy chain gene antisense RNA JBrowse link 11 67,224,196 67,237,281 RGD:8554872
G Rcvrn recoverin JBrowse link 11 67,695,326 67,703,355 RGD:8554872
G Vcp valosin containing protein JBrowse link 4 42,979,964 43,000,507 RGD:8554872
infantile cerebellar-retinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2, mitochondrial JBrowse link 15 81,872,463 81,915,137 RGD:7240710
RGD:8554872
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H JBrowse link 15 81,915,030 81,926,247 RGD:8554872
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and tumor necrosis factor related protein 5 JBrowse link 9 44,101,770 44,109,187 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 9 44,101,770 44,109,187 RGD:7240710
RGD:8554872
RGD:11553925
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 sine oculis-related homeobox 6 JBrowse link 12 72,939,882 72,944,899 RGD:8554872
RGD:11554173
IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt like transcription factor 4 JBrowse link 2 168,748,332 168,767,201 RGD:7240710
RGD:8554872
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 10 20,952,232 21,080,429 RGD:1598905
RGD:8554872
RGD:13592920
RGD:11537395
RGD:11537390
RGD:11537388
RGD:11343130
RGD:11537387
RGD:1304518
RGD:11537346
RGD:7240710
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 4930430F08Rik RIKEN cDNA 4930430F08 gene JBrowse link 10 100,572,274 100,589,390 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 10 100,487,548 100,575,671 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11537352
RGD:7246903
Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 4 12,039,355 12,090,020 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11072184
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 JBrowse link 14 52,104,241 52,161,339 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 8 91,217,030 91,313,291 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11537350
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 2 129,299,609 129,310,186 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 2 129,364,569 129,371,164 RGD:11554173
G mt-Atp6 ATP synthase 6, mitochondrial JBrowse link MT 7,927 8,607 RGD:8554872
G mt-Atp8 ATP synthase 8, mitochondrial JBrowse link MT 7,766 7,969 RGD:8554872
G mt-Co3 cytochrome c oxidase III, mitochondrial JBrowse link MT 8,607 9,390 RGD:8554872
G mt-Nd3 NADH dehydrogenase 3, mitochondrial JBrowse link MT 9,459 9,806 RGD:8554872
G mt-Nd4 NADH dehydrogenase 4, mitochondrial JBrowse link MT 10,167 11,544 RGD:8554872
G mt-Nd4l NADH dehydrogenase 4L, mitochondrial JBrowse link MT 9,877 10,173 RGD:8554872
G mt-Nd5 NADH dehydrogenase 5, mitochondrial JBrowse link MT 11,742 13,565 RGD:8554872
G mt-Tg tRNA glycine, mitochondrial JBrowse link MT 9,391 9,458 RGD:8554872
G mt-Th tRNA histidine, mitochondrial JBrowse link MT 11,546 11,612 RGD:8554872
G mt-Tl1 tRNA leucine 1, mitochondrial JBrowse link MT 2,676 2,750 RGD:8554872
G mt-Tl2 tRNA leucine 2, mitochondrial JBrowse link MT 11,671 11,741 RGD:8554872
G mt-Tr tRNA arginine, mitochondrial JBrowse link MT 9,808 9,875 RGD:8554872
G mt-Ts2 tRNA serine 2, mitochondrial JBrowse link MT 11,613 11,671 RGD:8554872
G mt-Ty tRNA tyrosine, mitochondrial JBrowse link MT 5,260 5,326 RGD:8554872
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha JBrowse link 5 51,454,249 52,115,853 RGD:7241824
G Tfam transcription factor A, mitochondrial JBrowse link 10 71,225,468 71,238,328 RGD:13592920
Leber hereditary optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa4 apolipoprotein A-IV JBrowse link 9 46,240,844 46,243,458 RGD:5685659
G Ephx1 epoxide hydrolase 1, microsomal JBrowse link 1 180,989,556 181,017,569 RGD:5688732
G Il1a interleukin 1 alpha JBrowse link 2 129,299,609 129,310,186 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 2 129,364,569 129,371,164 RGD:11554173
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) JBrowse link 3 82,892,582 82,903,974 RGD:11554173
G mt-Atp6 ATP synthase 6, mitochondrial JBrowse link MT 7,927 8,607 RGD:5490293
RGD:8554872
RGD:11554173
RGD:5508187
G mt-Co1 cytochrome c oxidase I, mitochondrial JBrowse link MT 5,328 6,872 RGD:8554872
G mt-Co3 cytochrome c oxidase III, mitochondrial JBrowse link MT 8,607 9,390 RGD:11554173
RGD:8554872
G mt-Cytb cytochrome b, mitochondrial JBrowse link MT 14,145 15,288 RGD:8554872
RGD:11554173
G mt-Nd1 NADH dehydrogenase 1, mitochondrial JBrowse link MT 2,751 3,707 RGD:5508685
RGD:8554872
RGD:11554173
RGD:8657118
RGD:8657116
RGD:5508712
RGD:5508689
RGD:5508187
G mt-Nd2 NADH dehydrogenase 2, mitochondrial JBrowse link MT 3,914 4,951 RGD:5508187
RGD:11554173
RGD:8554872
G mt-Nd3 NADH dehydrogenase 3, mitochondrial JBrowse link MT 9,459 9,806 RGD:5508703
RGD:8554872
G mt-Nd4 NADH dehydrogenase 4, mitochondrial JBrowse link MT 10,167 11,544 RGD:1581057
RGD:8554872
RGD:11554173
RGD:5508187
RGD:5507829
RGD:5491183
RGD:1581058
RGD:1581059
G mt-Nd4l NADH dehydrogenase 4L, mitochondrial JBrowse link MT 9,877 10,173 RGD:5686339
RGD:8554872
RGD:11554173
RGD:5686341
G mt-Nd5 NADH dehydrogenase 5, mitochondrial JBrowse link MT 11,742 13,565 RGD:1581060
RGD:8554872
RGD:11554173
RGD:5507826
RGD:5491202
RGD:5491183
RGD:5491172
G mt-Nd6 NADH dehydrogenase 6, mitochondrial JBrowse link MT 13,552 14,070 RGD:8657119
RGD:8554872
RGD:13592920
RGD:11554173
RGD:8657127
RGD:8657125
RGD:8657123
G mt-Tl1 tRNA leucine 1, mitochondrial JBrowse link MT 2,676 2,750 RGD:8554872
G mt-Ts1 tRNA serine 1, mitochondrial JBrowse link MT 6,870 6,938 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 1 171,234,853 171,251,686 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 16 20,279,820 20,302,395 RGD:12902617
RGD:12902618
G Rdh12 retinol dehydrogenase 12 JBrowse link 12 79,208,913 79,222,664 RGD:1599415
G Rpe65 retinal pigment epithelium 65 JBrowse link 3 159,599,075 159,625,307 RGD:11554173
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 JBrowse link 14 52,104,241 52,161,339 RGD:1599580
G Sod2 superoxide dismutase 2, mitochondrial JBrowse link 17 13,007,839 13,018,119 RGD:8158101
RGD:8158104
G Trp53 transformation related protein 53 JBrowse link 11 69,580,348 69,591,873 RGD:5688732
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G mt-Nd3 NADH dehydrogenase 3, mitochondrial JBrowse link MT 9,459 9,806 RGD:8554872
Leber plus disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 2 140,170,584 140,218,965 RGD:8554872
low tension glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenergic receptor, beta 1 JBrowse link 19 56,722,117 56,725,150 RGD:8548468
G Apoe apolipoprotein E JBrowse link 7 19,696,244 19,701,310 RGD:7495800
G Bdnf brain derived neurotrophic factor JBrowse link 2 109,674,700 109,727,043 RGD:8655604
G Cav1 caveolin 1, caveolae protein JBrowse link 6 17,306,335 17,341,328 RGD:8661774
G Cav2 caveolin 2 JBrowse link 6 17,281,185 17,289,130 RGD:8661774
G Crp C-reactive protein, pentraxin-related JBrowse link 1 172,698,056 172,699,966 RGD:9491770
RGD:9491771
G Edn1 endothelin 1 JBrowse link 13 42,301,476 42,307,990 RGD:8661736
G Hspd1 heat shock protein 1 (chaperonin) JBrowse link 1 55,077,833 55,088,243 RGD:10402863
G Myoc myocilin JBrowse link 1 162,639,150 162,649,694 RGD:7771548
G Optn optineurin JBrowse link 2 5,020,521 5,064,399 RGD:7771548
RGD:7775043
RGD:7775041
G Slc1a1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 JBrowse link 19 28,835,135 28,913,960 RGD:11554173
RGD:13592920
G Slc1a3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 JBrowse link 15 8,634,124 8,710,807 RGD:13592920
G Sod1 superoxide dismutase 1, soluble JBrowse link 16 90,220,762 90,226,333 RGD:8655579
RGD:13592920
G Tlr4 toll-like receptor 4 JBrowse link 4 66,827,551 66,846,581 RGD:7794768
RGD:7794769
G Tnf tumor necrosis factor JBrowse link 17 35,199,367 35,202,007 RGD:7775041
G Trp53 transformation related protein 53 JBrowse link 11 69,580,348 69,591,873 RGD:7387247
macular retinal edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoh apolipoprotein H JBrowse link 11 108,395,297 108,414,396 RGD:2315548
G Ccl2 chemokine (C-C motif) ligand 2 JBrowse link 11 82,035,577 82,037,452 RGD:2306981
RGD:7829760
G Clu clusterin JBrowse link 14 65,968,483 65,981,548 RGD:9068396
G Epo erythropoietin JBrowse link 5 137,483,020 137,485,816 RGD:10400883
G Fgf2 fibroblast growth factor 2 JBrowse link 3 37,348,477 37,410,106 RGD:8655594
G Flt1 FMS-like tyrosine kinase 1 JBrowse link 5 147,561,604 147,726,438 RGD:10402117
G Il6 interleukin 6 JBrowse link 5 30,013,114 30,019,975 RGD:7829760
G Kdr kinase insert domain protein receptor JBrowse link 5 75,932,827 75,979,072 RGD:8549772
G Ndp Norrie disease (pseudoglioma) (human) JBrowse link X 16,885,521 16,911,774 RGD:11554173
G Nos3 nitric oxide synthase 3, endothelial cell JBrowse link 5 24,364,816 24,384,474 RGD:7775044
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 JBrowse link 11 75,410,029 75,422,623 RGD:8554903
RGD:8655546
G Vegfa vascular endothelial growth factor A JBrowse link 17 46,016,993 46,032,377 RGD:8549772
RGD:11554173
RGD:8655594
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sobp sine oculis binding protein JBrowse link 10 43,002,488 43,183,139 RGD:7240710
RGD:8554872
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger, C4H2 domain containing JBrowse link X 95,639,187 95,658,509 RGD:11554173
RGD:8554872
RGD:7240710
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1, skeletal muscle JBrowse link 7 29,003,340 29,125,179 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 2 144,270,904 144,281,227 RGD:7240710
RGD:8554872
Mobius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts8 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 8 JBrowse link 9 30,942,562 30,963,838 RGD:8554872
G Amh anti-Mullerian hormone JBrowse link 10 80,805,240 80,807,679 RGD:8554872
G Bcdin3d BCDIN3 domain containing JBrowse link 15 99,470,084 99,474,730 RGD:8554872
G Cdh11 cadherin 11 JBrowse link 8 102,632,095 102,785,493 RGD:8554872
G Defb10 defensin beta 10 JBrowse link 8 21,858,901 21,862,011 RGD:8554872
G Ebf3 early B cell factor 3 JBrowse link 7 137,193,671 137,322,805 RGD:8554872
G Fam71a family with sequence similarity 71, member A JBrowse link 1 191,162,584 191,164,817 RGD:8554872
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 53,806,872 54,195,034 RGD:8554872
G Hspb7 heat shock protein family, member 7 (cardiovascular) JBrowse link 4 141,420,779 141,425,310 RGD:8554872
G Ints6l integrator complex subunit 6 like JBrowse link X 56,454,825 56,507,843 RGD:8554872
G Kbtbd7 kelch repeat and BTB (POZ) domain containing 7 JBrowse link 14 79,426,511 79,431,039 RGD:8554872
G Mrpl28 mitochondrial ribosomal protein L28 JBrowse link 17 26,123,503 26,126,613 RGD:8554872
G Plcb2 phospholipase C, beta 2 JBrowse link 2 118,705,003 118,728,661 RGD:8554872
G Ptch2 patched 2 JBrowse link 4 117,096,056 117,116,101 RGD:8554872
G Sim1 single-minded family bHLH transcription factor 1 JBrowse link 10 50,894,698 50,989,156 RGD:8554872
G Zfp787 zinc finger protein 787 JBrowse link 7 6,131,489 6,159,380 RGD:8554872
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 4 53,440,387 53,622,478 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 (S. cerevisiae) JBrowse link 5 100,361,649 100,416,273 RGD:8554872
RGD:7240710
neurofibromatosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf2 neurofibromin 2 JBrowse link 11 4,757,639 4,849,544 RGD:7240710
RGD:8554872
RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 17 46,016,993 46,032,377 RGD:8547955
RGD:8547957
neuromyelitis optica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 15,389,394 15,410,982 RGD:5148024
RGD:11554173
RGD:8696034
RGD:8696033
RGD:8696032
RGD:8696026
RGD:8695993
RGD:5148032
G Cd59b CD59b antigen JBrowse link 2 104,069,781 104,085,790 RGD:13792592
G Gfap glial fibrillary acidic protein JBrowse link 11 102,887,336 102,897,200 RGD:11554173
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 JBrowse link 17 34,263,227 34,269,418 RGD:7421588
RGD:11530523
G H2-Eb1 histocompatibility 2, class II antigen E beta JBrowse link 17 34,305,867 34,316,674 RGD:5147590
RGD:11530523
G Il6 interleukin 6 JBrowse link 5 30,013,114 30,019,975 RGD:7829722
G Mbp myelin basic protein JBrowse link 18 82,475,091 82,585,637 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 2 164,940,326 164,955,850 RGD:8547883
G Nefh neurofilament, heavy polypeptide JBrowse link 11 4,938,754 4,948,064 RGD:27226805
G S100b S100 protein, beta polypeptide, neural JBrowse link 10 76,253,836 76,261,319 RGD:5508767
non-arteritic anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 JBrowse link 11 105,967,948 105,989,964 RGD:8548899
G Crp C-reactive protein, pentraxin-related JBrowse link 1 172,698,056 172,699,966 RGD:9491785
G F5 coagulation factor V JBrowse link 1 164,151,835 164,220,277 RGD:7394764
G Gp1ba glycoprotein 1b, alpha polypeptide JBrowse link 11 70,639,102 70,643,986 RGD:8554872
RGD:11554173
RGD:7240710
G Itgb3 integrin beta 3 JBrowse link 11 104,608,000 104,670,476 RGD:8693343
G Mthfr methylenetetrahydrofolate reductase JBrowse link 4 148,039,077 148,059,562 RGD:8693343
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 2 105,697,320 105,904,564 RGD:8554872
G Pax6 paired box 6 JBrowse link 2 105,668,896 105,698,410 RGD:7240710
RGD:8554872
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgm6 transglutaminase 6 JBrowse link 2 130,112,416 130,154,233 RGD:8554872
Oculomotor Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 JBrowse link 13 58,806,472 59,133,970 RGD:5684341
olfactory neuroblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hif1a hypoxia inducible factor 1, alpha subunit JBrowse link 12 73,901,324 73,947,554 RGD:8694471
ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 2 144,270,904 144,281,227 RGD:11554173
G mt-Co1 cytochrome c oxidase I, mitochondrial JBrowse link MT 5,328 6,872 RGD:8554872
G mt-Tn tRNA asparagine, mitochondrial JBrowse link MT 5,089 5,159 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 10 107,482,908 107,486,927 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 12,189,694 12,236,506 RGD:11554173
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomc pro-opiomelanocortin-alpha JBrowse link 12 3,954,945 3,960,643 RGD:11554173
optic atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3-like AAA ATPase 2 JBrowse link 18 67,404,764 67,449,192 RGD:8554872
G Cyria CYFIP related Rac1 interactor A JBrowse link 12 12,262,134 12,380,965 RGD:8554872
G Ddx1 DEAD box helicase 1 JBrowse link 12 13,219,307 13,249,174 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 16 16,312,228 16,359,038 RGD:11554173
G Mecr mitochondrial trans-2-enoyl-CoA reductase JBrowse link 4 131,843,444 131,867,787 RGD:8554872
G mt-Co1 cytochrome c oxidase I, mitochondrial JBrowse link MT 5,328 6,872 RGD:8554872
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived JBrowse link 12 12,936,093 12,941,836 RGD:8554872
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 2 90,894,627 90,904,721 RGD:11554173
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 4 149,467,569 149,485,210 RGD:11554173
G Oat ornithine aminotransferase JBrowse link 7 132,557,475 132,576,398 RGD:8554872
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 16 29,579,281 29,663,127 RGD:7800714
RGD:8554872
RGD:13592920
G Rpl24 ribosomal protein L24 JBrowse link 16 55,966,275 55,971,437 RGD:13592920
G Slbp stem-loop binding protein JBrowse link 5 33,640,055 33,652,574 RGD:11554173
G Slc25a46 solute carrier family 25, member 46 JBrowse link 18 31,580,164 31,610,532 RGD:11554173
G Tbcd tubulin-specific chaperone d JBrowse link 11 121,451,991 121,617,170 RGD:11554173
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 5 36,966,104 36,988,982 RGD:8694404
optic atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 16 29,579,281 29,663,127 RGD:7240710
RGD:8554872
RGD:11554173
RGD:7800716
RGD:7800715
RGD:7800709
RGD:7800708
RGD:7800706
RGD:7800704
RGD:7800699
RGD:7800686
G Opa3 optic atrophy 3 JBrowse link 7 19,228,389 19,246,817 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 5 36,966,104 36,988,982 RGD:7800683
optic atrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtn4ip1 reticulon 4 interacting protein 1 JBrowse link 10 43,901,807 43,947,863 RGD:8554872
RGD:7240710
optic atrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yme1l1 YME1-like 1 (S. cerevisiae) JBrowse link 2 23,155,442 23,199,260 RGD:8554872
RGD:7240710
optic atrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 optic atrophy 3 JBrowse link 7 19,228,389 19,246,817 RGD:7240710
RGD:8554872
optic atrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 16 16,312,228 16,359,038 RGD:8554872
RGD:7240710
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) JBrowse link 16 16,302,965 16,309,640 RGD:8554872
optic atrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem126a transmembrane protein 126A JBrowse link 7 90,450,700 90,457,203 RGD:7240710
RGD:8554872
optic atrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2, mitochondrial JBrowse link 15 81,872,463 81,915,137 RGD:7240710
RGD:8554872
G Greb1l growth regulation by estrogen in breast cancer-like JBrowse link 18 10,324,933 10,562,945 RGD:8554872
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H JBrowse link 15 81,915,030 81,926,247 RGD:8554872
Optic Nerve Aplasia, Bilateral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 2 105,668,896 105,698,410 RGD:8554872
optic nerve disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ager advanced glycosylation end product-specific receptor JBrowse link 17 34,597,460 34,600,937 RGD:8695971
G Edn1 endothelin 1 JBrowse link 13 42,301,476 42,307,990 RGD:8661688
G Kars lysyl-tRNA synthetase JBrowse link 8 111,993,439 112,011,354 RGD:8554872
G mt-Atp6 ATP synthase 6, mitochondrial JBrowse link MT 7,927 8,607 RGD:8554872
G mt-Atp8 ATP synthase 8, mitochondrial JBrowse link MT 7,766 7,969 RGD:8554872
G mt-Nd1 NADH dehydrogenase 1, mitochondrial JBrowse link MT 2,751 3,707 RGD:8554872
G Pax6 paired box 6 JBrowse link 2 105,668,896 105,698,410 RGD:11554173
optic nerve glioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 JBrowse link 9 120,048,683 120,068,296 RGD:9491391
G Nf1 neurofibromin 1 JBrowse link 11 79,339,590 79,581,609 RGD:12789442
RGD:8554872
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox2 SRY (sex determining region Y)-box 2 JBrowse link 3 34,649,995 34,652,461 RGD:8554872
G Sox2ot SOX2 overlapping transcript (non-protein coding) JBrowse link 3 34,560,381 34,677,993 RGD:8554872
Optic Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp activity-dependent neuroprotective protein JBrowse link 2 168,180,965 168,207,112 RGD:2312783
G Amigo3 adhesion molecule with Ig like domain 3 JBrowse link 9 108,053,159 108,055,701 RGD:14390159
G Aqp4 aquaporin 4 JBrowse link 18 15,389,394 15,410,982 RGD:2326035
G Aqp9 aquaporin 9 JBrowse link 9 71,110,659 71,167,849 RGD:2326035
G Arg2 arginase type II JBrowse link 12 79,130,788 79,156,301 RGD:11554173
G Atf2 activating transcription factor 2 JBrowse link 2 73,816,509 73,892,677 RGD:10047417
G Bax BCL2-associated X protein JBrowse link 7 45,461,695 45,466,903 RGD:10054098
G Bcl2 B cell leukemia/lymphoma 2 JBrowse link 1 106,538,176 106,714,290 RGD:10054098
G Bdnf brain derived neurotrophic factor JBrowse link 2 109,674,700 109,727,043 RGD:8655584
RGD:8655637
RGD:8655586
G C3 complement component 3 JBrowse link 17 57,203,967 57,228,136 RGD:5129542
G Cdk2 cyclin-dependent kinase 2 JBrowse link 10 128,697,938 128,705,051 RGD:9068941
G Cfl1 cofilin 1, non-muscle JBrowse link 19 5,490,455 5,494,031 RGD:11568693
G Clu clusterin JBrowse link 14 65,968,483 65,981,548 RGD:5129542
G Csf3 colony stimulating factor 3 (granulocyte) JBrowse link 11 98,700,183 98,703,631 RGD:11039471
G Ctsb cathepsin B JBrowse link 14 63,122,462 63,145,923 RGD:2315508
G Edn1 endothelin 1 JBrowse link 13 42,301,476 42,307,990 RGD:4892579
G Ednra endothelin receptor type A JBrowse link 8 77,663,029 77,724,452 RGD:4892579
G Ednrb endothelin receptor type B JBrowse link 14 103,814,615 103,844,508 RGD:4892579
G Ep300 E1A binding protein p300 JBrowse link 15 81,586,209 81,652,077 RGD:7349392
G Fgf2 fibroblast growth factor 2 JBrowse link 3 37,348,477 37,410,106 RGD:8554854
G Gdnf glial cell line derived neurotrophic factor JBrowse link 15 7,810,048 7,837,580 RGD:6218970
G Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 JBrowse link 19 58,235,581 58,455,946 RGD:6218970
G Gfra2 glial cell line derived neurotrophic factor family receptor alpha 2 JBrowse link 14 70,890,107 70,979,840 RGD:6218970
G Hgf hepatocyte growth factor JBrowse link 5 16,553,495 16,619,439 RGD:8548549
G Igf1r insulin-like growth factor I receptor JBrowse link 7 67,952,257 68,233,668 RGD:5686431
RGD:10046025
G Jun jun proto-oncogene JBrowse link 4 95,049,036 95,052,222 RGD:10047417
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 JBrowse link 1 172,341,210 172,374,085 RGD:2326035
G mt-Co1 cytochrome c oxidase I, mitochondrial JBrowse link MT 5,328 6,872 RGD:8662362
G Nampt nicotinamide phosphoribosyltransferase JBrowse link 12 32,820,335 32,853,369 RGD:13781885
G Nefm neurofilament, medium polypeptide JBrowse link 14 68,119,545 68,125,004 RGD:9743936
G Neo1 neogenin JBrowse link 9 58,874,679 59,036,614 RGD:9850142
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) JBrowse link 11 95,568,818 95,587,698 RGD:5508695
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 JBrowse link 3 87,778,244 87,795,242 RGD:5508695
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 JBrowse link 13 58,806,472 59,133,970 RGD:5684908
G Pawr PRKC, apoptosis, WT1, regulator JBrowse link 10 108,332,189 108,414,391 RGD:1299297
G Pax6 paired box 6 JBrowse link 2 105,668,896 105,698,410 RGD:8552379
G Pdgfb platelet derived growth factor, B polypeptide JBrowse link 15 79,995,865 80,024,614 RGD:10449496
G Pecam1 platelet/endothelial cell adhesion molecule 1 JBrowse link 11 106,654,213 106,715,281 RGD:6767293
G Plau plasminogen activator, urokinase JBrowse link 14 20,836,662 20,843,388 RGD:6483802
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 JBrowse link 7 47,077,795 47,134,026 RGD:9835027
G Rhoa ras homolog family member A JBrowse link 9 108,306,160 108,337,943 RGD:1642826
G Snw1 SNW domain containing 1 JBrowse link 12 87,449,910 87,472,299 RGD:11035254
G Tlr4 toll-like receptor 4 JBrowse link 4 66,827,551 66,846,581 RGD:7794777
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a JBrowse link 6 125,349,723 125,362,483 RGD:7794683
RGD:8661743
G Tradd TNFRSF1A-associated via death domain JBrowse link 8 105,258,575 105,264,594 RGD:7794683
G Ybx3 Y box protein 3 JBrowse link 6 131,364,858 131,388,450 RGD:2311250
optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 15,389,394 15,410,982 RGD:8696036
RGD:9685553
G Capn1 calpain 1 JBrowse link 19 5,988,545 6,015,825 RGD:11554173
G Cat catalase JBrowse link 2 103,453,904 103,485,153 RGD:9068881
G Ccr5 chemokine (C-C motif) receptor 5 JBrowse link 9 124,121,543 124,127,183 RGD:8551840
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 9 56,865,104 56,899,870 RGD:5686855
G Gstm1 glutathione S-transferase, mu 1 JBrowse link 3 108,012,250 108,017,973 RGD:5148007
G Gstt1 glutathione S-transferase, theta 1 JBrowse link 10 75,783,813 75,798,584 RGD:5148007
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 JBrowse link 17 34,263,227 34,269,418 RGD:7483596
G H2-Eb1 histocompatibility 2, class II antigen E beta JBrowse link 17 34,305,867 34,316,674 RGD:7365050
G Mog myelin oligodendrocyte glycoprotein JBrowse link 17 37,010,740 37,023,398 RGD:9685553
RGD:9685554
G Nefh neurofilament, heavy polypeptide JBrowse link 11 4,938,754 4,948,064 RGD:27226813
RGD:27226814
G Sod2 superoxide dismutase 2, mitochondrial JBrowse link 17 13,007,839 13,018,119 RGD:8158052
pathologic nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 10 100,487,548 100,575,671 RGD:8554872
G Cngb3 cyclic nucleotide gated channel beta 3 JBrowse link 4 19,280,850 19,510,623 RGD:8554872
G Col18a1 collagen, type XVIII, alpha 1 JBrowse link 10 77,052,178 77,166,530 RGD:8554872
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 JBrowse link 4 155,491,300 155,559,269 RGD:8554872
G Gpr143 G protein-coupled receptor 143 JBrowse link X 152,781,921 152,808,651 RGD:8554872
G Gucy2e guanylate cyclase 2e JBrowse link 11 69,218,117 69,237,279 RGD:8554872
G Ndp Norrie disease (pseudoglioma) (human) JBrowse link X 16,885,521 16,911,774 RGD:8554872
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 JBrowse link 14 52,104,241 52,161,339 RGD:11554173
G Slc19a1 solute carrier family 19 (folate transporter), member 1 JBrowse link 10 77,032,269 77,050,432 RGD:8554872
G Tfap2a transcription factor AP-2, alpha JBrowse link 13 40,713,802 40,738,238 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 4 12,039,355 12,090,020 RGD:8554872
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:8554872
PEHO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc88a coiled coil domain containing 88A JBrowse link 11 29,373,405 29,510,808 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 10 87,858,265 87,937,047 RGD:8548849
G Kif1a kinesin family member 1A JBrowse link 1 93,015,455 93,102,039 RGD:8554872
G Znhit3 zinc finger, HIT type 3 JBrowse link 11 84,910,950 84,916,366 RGD:7240710
RGD:8554872
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin-specific chaperone E JBrowse link 13 13,997,947 14,039,650 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci Fanconi anemia, complementation group I JBrowse link 7 79,392,312 79,450,266 RGD:8554872
G Polg polymerase (DNA directed), gamma JBrowse link 7 79,446,231 79,467,911 RGD:8554872
RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 19 45,005,663 45,012,764 RGD:8554872
Progressive External Ophthalmoplegia with Myoclonus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G mt-Tk tRNA lysine, mitochondrial JBrowse link MT 7,700 7,764 RGD:8554872
progressive supranuclear palsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 JBrowse link 6 70,844,484 70,905,241 RGD:11554173
G Map2k6 mitogen-activated protein kinase kinase 6 JBrowse link 11 110,399,102 110,525,522 RGD:7495833
G Mapt microtubule-associated protein tau JBrowse link 11 104,229,409 104,332,090 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8158100
RGD:8158099
RGD:8158095
G Mobp myelin-associated oligodendrocytic basic protein JBrowse link 9 120,149,742 120,181,488 RGD:11554173
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) JBrowse link 8 67,494,875 67,502,644 RGD:8552652
G Ogg1 8-oxoguanine DNA-glycosylase 1 JBrowse link 6 113,326,972 113,334,877 RGD:8657142
G Sod1 superoxide dismutase 1, soluble JBrowse link 16 90,220,762 90,226,333 RGD:8655859
G Srsf2 serine and arginine-rich splicing factor 2 JBrowse link 11 116,849,897 116,853,675 RGD:11554173
G Stx6 syntaxin 6 JBrowse link 1 155,158,628 155,207,567 RGD:11554173
G Tardbp TAR DNA binding protein JBrowse link 4 148,612,382 148,627,084 RGD:5687185
G Tra2b transformer 2 beta JBrowse link 16 22,244,552 22,266,005 RGD:11554173
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapt microtubule-associated protein tau JBrowse link 11 104,229,409 104,332,090 RGD:7240710
Senior-Loken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 4930430F08Rik RIKEN cDNA 4930430F08 gene JBrowse link 10 100,572,274 100,589,390 RGD:8554872
G Akt3 thymoma viral proto-oncogene 3 JBrowse link 1 177,020,076 177,261,781 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 10 100,487,548 100,575,671 RGD:8554872
RGD:13592920
G Iqcb1 IQ calmodulin-binding motif containing 1 JBrowse link 16 36,828,360 36,872,719 RGD:8554872
RGD:13592920
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) JBrowse link 2 127,740,732 127,788,913 RGD:11554173
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) JBrowse link 4 152,476,706 152,563,184 RGD:8554872
RGD:13592920
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 1 176,814,660 177,020,438 RGD:8554872
RGD:13592920
G Tmem218 transmembrane protein 218 JBrowse link 9 37,208,223 37,223,228 RGD:13592920
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 2 66,183,787 66,256,674 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 5 65,199,696 65,260,415 RGD:11552600
Senior-Loken Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) JBrowse link 2 127,740,732 127,788,913 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephronophthisis 3 (adolescent) JBrowse link 9 104,002,544 104,043,811 RGD:7240710
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) JBrowse link 4 152,476,706 152,563,184 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqcb1 IQ calmodulin-binding motif containing 1 JBrowse link 16 36,828,360 36,872,719 RGD:7240710
RGD:8554872
RGD:11537383
Senior-Loken Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 4930430F08Rik RIKEN cDNA 4930430F08 gene JBrowse link 10 100,572,274 100,589,390 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 10 100,487,548 100,575,671 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 thymoma viral proto-oncogene 3 JBrowse link 1 177,020,076 177,261,781 RGD:8554872
G Cep170 centrosomal protein 170 JBrowse link 1 176,729,072 176,813,979 RGD:8554872
G Pld5 phospholipase D family, member 5 JBrowse link 1 175,962,301 176,281,512 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 1 176,814,660 177,020,438 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 5 65,199,696 65,260,415 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 1 91,494,590 91,529,307 RGD:7240710
RGD:8554872
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca2 ATP-binding cassette, sub-family A (ABC1), member 2 JBrowse link 2 25,428,599 25,448,544 RGD:8554872
G Fanci Fanconi anemia, complementation group I JBrowse link 7 79,392,312 79,450,266 RGD:8554872
G Polg polymerase (DNA directed), gamma JBrowse link 7 79,446,231 79,467,911 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694285
RGD:8694282
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 6 92,370,891 92,706,334 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 19 45,005,663 45,012,764 RGD:8554872
RGD:11554173
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nbas neuroblastoma amplified sequence JBrowse link 12 13,269,101 13,637,380 RGD:7240710
RGD:8554872
spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3-like AAA ATPase 2 JBrowse link 18 67,404,764 67,449,192 RGD:11532672
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit JBrowse link 8 84,338,631 84,640,251 RGD:8554872
G Hars histidyl-tRNA synthetase JBrowse link 18 36,766,528 36,783,205 RGD:8554872
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 11 70,688,361 70,700,285 RGD:8554872
G Kcnma1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 JBrowse link 14 23,292,288 24,005,110 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 11 70,700,396 70,731,970 RGD:8554872
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tapbpl TAP binding protein-like JBrowse link 6 125,223,927 125,231,860 RGD:8554872
G Vamp1 vesicle-associated membrane protein 1 JBrowse link 6 125,215,581 125,222,306 RGD:7240710
RGD:8554872
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 4930544D05Rik RIKEN cDNA 4930544D05 gene JBrowse link 11 70,615,589 70,616,892 RGD:8554872
G Camta2 calmodulin binding transcription activator 2 JBrowse link 11 70,669,463 70,688,145 RGD:8554872
G Chrne cholinergic receptor, nicotinic, epsilon polypeptide JBrowse link 11 70,614,883 70,619,213 RGD:8554872
G Eno3 enolase 3, beta muscle JBrowse link 11 70,653,125 70,662,513 RGD:8554872
G Gp1ba glycoprotein 1b, alpha polypeptide JBrowse link 11 70,639,102 70,643,986 RGD:8554872
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 11 70,688,361 70,700,285 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 11 70,700,396 70,731,970 RGD:7240710
RGD:8554872
G Pfn1 profilin 1 JBrowse link 11 70,651,844 70,656,799 RGD:8554872
G Rnf167 ring finger protein 167 JBrowse link 11 70,647,230 70,651,421 RGD:8554872
G Slc25a11 solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11 JBrowse link 11 70,644,019 70,647,531 RGD:8554872
G Spag7 sperm associated antigen 7 JBrowse link 11 70,663,769 70,669,416 RGD:8554872
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionine-tRNA synthetase 2 (mitochondrial) JBrowse link 1 55,237,177 55,240,058 RGD:7240710
RGD:8554872
G Sacs sacsin JBrowse link 14 61,138,421 61,240,693 RGD:8554872
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtpap mitochondrial poly(A) polymerase JBrowse link 18 4,375,589 4,399,888 RGD:7240710
RGD:8554872
spastic ataxia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3-like AAA ATPase 2 JBrowse link 18 67,404,764 67,449,192 RGD:7240710
RGD:8554872
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx6-2 NK6 homeobox 2 JBrowse link 7 139,579,376 139,582,797 RGD:7240710
RGD:8554872
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chp1 calcineurin-like EF hand protein 1 JBrowse link 2 119,547,707 119,587,024 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 12 24,974,903 25,063,152 RGD:8554872
RGD:7240710
SPOAN syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klc2 kinesin light chain 2 JBrowse link 19 5,107,746 5,118,298 RGD:8554872
RGD:7240710
strabismus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahctf1 AT hook containing transcription factor 1 JBrowse link 1 179,744,904 179,804,015 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 14 46,383,525 46,390,669 RGD:8699500
G Foxp1 forkhead box P1 JBrowse link 6 98,925,342 99,522,746 RGD:8554872
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 JBrowse link 4 155,491,300 155,559,269 RGD:8554872
G Med13l mediator complex subunit 13-like JBrowse link 5 118,560,330 118,765,438 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 11 79,339,590 79,581,609 RGD:8554872
G Sil1 endoplasmic reticulum chaperone SIL1 homolog (S. cerevisiae) JBrowse link 18 35,266,396 35,499,390 RGD:8554872
G Sox5 SRY (sex determining region Y)-box 5 JBrowse link 6 143,828,425 144,782,287 RGD:8554872
Trigeminal Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trp53 transformation related protein 53 JBrowse link 11 69,580,348 69,591,873 RGD:8547771
trigeminal neuralgia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aif1 allograft inflammatory factor 1 JBrowse link 17 35,170,986 35,176,083 RGD:11554173
G Calca calcitonin/calcitonin-related polypeptide, alpha JBrowse link 7 114,625,981 114,636,910 RGD:11554173
G Cdk5 cyclin-dependent kinase 5 JBrowse link 5 24,407,597 24,423,587 RGD:13782378
G Cdk5r1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) JBrowse link 11 80,477,023 80,481,184 RGD:13782378
G Fos FBJ osteosarcoma oncogene JBrowse link 12 85,473,890 85,477,274 RGD:11554173
G Gfap glial fibrillary acidic protein JBrowse link 11 102,887,336 102,897,200 RGD:11554173
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) JBrowse link 2 25,291,177 25,319,187 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 2 129,364,569 129,371,164 RGD:11554173
G Mapk1 mitogen-activated protein kinase 1 JBrowse link 16 16,983,382 17,047,453 RGD:11554173
G Mapk3 mitogen-activated protein kinase 3 JBrowse link 7 126,759,626 126,765,816 RGD:11554173
G Mapk8 mitogen-activated protein kinase 8 JBrowse link 14 33,377,898 33,447,353 RGD:11554173
G Mapk9 mitogen-activated protein kinase 9 JBrowse link 11 49,846,728 49,886,421 RGD:11554173
G Mir125a microRNA 125a JBrowse link 17 17,830,812 17,830,879 RGD:26884456
G Prkcg protein kinase C, gamma JBrowse link 7 3,303,532 3,331,099 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 17 35,199,367 35,202,007 RGD:11554173
vestibular neuronitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crp C-reactive protein, pentraxin-related JBrowse link 1 172,698,056 172,699,966 RGD:9491594
Vestibulocochlear Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb2 adrenergic receptor, beta 2 JBrowse link 18 62,177,713 62,179,981 RGD:8548530
Warburg micro syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 18 6,765,167 6,791,606 RGD:8554872
RGD:11554173
G Rab3gap1 RAB3 GTPase activating protein subunit 1 JBrowse link 1 127,868,755 127,943,876 RGD:8554872
RGD:11554173
G Rab3gap2 RAB3 GTPase activating protein subunit 2 JBrowse link 1 185,204,088 185,286,756 RGD:8554872
RGD:11554173
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 2 152,293,826 152,313,994 RGD:11554173
G Zranb3 zinc finger, RAN-binding domain containing 3 JBrowse link 1 127,954,179 128,103,053 RGD:8554872
Warburg micro syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein subunit 1 JBrowse link 1 127,868,755 127,943,876 RGD:8554872
RGD:7240710
G Zranb3 zinc finger, RAN-binding domain containing 3 JBrowse link 1 127,954,179 128,103,053 RGD:8554872
Warburg micro syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap2 RAB3 GTPase activating protein subunit 2 JBrowse link 1 185,204,088 185,286,756 RGD:7240710
RGD:8554872
Warburg micro syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 18 6,765,167 6,791,606 RGD:7240710
RGD:8554872
RGD:13592920
Warburg micro syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 2 152,293,826 152,313,994 RGD:7240710
RGD:13592920
RGD:8554872
Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G mt-Nd1 NADH dehydrogenase 1, mitochondrial JBrowse link MT 2,751 3,707 RGD:5490247
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 5 36,966,104 36,988,982 RGD:1599813
RGD:8554872
RGD:11554173
Wolfram syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 5 36,966,104 36,988,982 RGD:13592920
RGD:8554872
RGD:7240710
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cisd2 CDGSH iron sulfur domain 2 JBrowse link 3 135,406,412 135,424,039 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11554173
RGD:10045603
RGD:10045601
G Slc9b1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 JBrowse link 3 135,347,993 135,397,827 RGD:8554872
X-linked deafness 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 JBrowse link X 48,474,944 48,513,563 RGD:8554872
RGD:7240710
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 48,513,663 48,530,240 RGD:8554872
Zonular Cataract and Nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 161,833,290 162,159,441 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13271
    disease of anatomical entity 12755
      nervous system disease 10288
        peripheral nervous system disease 2366
          neuropathy 2194
            cranial nerve disease 407
              Cranial Nerve Injuries + 75
              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 + 50
              glossopharyngeal nerve disease + 41
              hypoglossal nerve disease + 19
              jaw-winking syndrome 0
              ocular motility disease + 129
              olfactory nerve disease + 1
              optic nerve disease + 213
              third cranial nerve disease + 2
              trigeminal nerve disease + 16
              trochlear nerve disease + 0
              vestibulocochlear nerve disease + 18
paths to the root

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