ONTOLOGY REPORT - ANNOTATIONS


Term:cranial nerve disease
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:7240710
RGD:11554173
RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
acoustic neuroma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Artn artemin JBrowse link 5 136,759,717 136,765,036 RGD:8655552
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655552
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:8661782
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:8661792
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 JBrowse link 1 213,511,892 213,522,195 RGD:1358568
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:5688735
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11567268
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:8655552
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548833
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:8548833
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:8661792
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 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 12 19,320,269 19,328,706 RGD:8554872
RGD:7240710
anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:6483070
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11039419
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:7394764
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490236
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7775040
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:7240710
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:8554872
RGD:7240710
RGD:11553818
RGD:11554173
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:8554872
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdxr ferredoxin reductase JBrowse link 10 103,817,724 103,826,413 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 11 74,717,600 74,793,902 RGD:8554872
RGD:7240710
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:11554173
RGD:8554872
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam172a family with sequence similarity 172, member A JBrowse link 2 4,942,795 5,547,744 RGD:8554872
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 JBrowse link 2 5,569,954 5,579,894 RGD:7240710
RGD:8554872
G Pou5f2 POU domain class 5, transcription factor 2 JBrowse link 2 5,437,067 5,438,301 RGD:8554872
G RGD1560883 similar to KIAA0825 protein JBrowse link 2 4,195,871 4,755,065 RGD:8554872
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 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 3 5,608,243 5,617,689 RGD:8554872
RGD:7240710
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 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 5 4,275,728 4,495,525 RGD:11554173
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
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 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:7240710
RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
RGD:8554872
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:737726
RGD:11554173
RGD:8694204
RGD:8694183
RGD:8694170
RGD:8694163
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580622
RGD:8554872
RGD:1580620
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 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 7 132,069,962 132,200,947 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 1 166,893,734 166,898,252 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 19 56,220,759 56,229,813 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 7 132,069,962 132,200,947 RGD:8554872
RGD:11554173
Congenital Fibrosis of Extraocular Muscles, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen type XXV alpha 1 chain JBrowse link 2 235,515,364 235,705,448 RGD:8554872
RGD:7240710
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen type XXV alpha 1 chain JBrowse link 2 235,515,364 235,705,448 RGD:13592920
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
RGD:13592920
G Phox2a paired-like homeobox 2a JBrowse link 1 166,893,734 166,898,252 RGD:13592920
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 RGD:13592920
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link 6 54,963,990 55,001,806 RGD:11554173
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:8554872
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:13592920
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:11537385
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552281
Cranial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:2289006
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:4891994
Deafness, X-Linked 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
RGD:7240710
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
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 105,351,714 105,355,722 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
Distal Hereditary Motor Neuropathy, Type VIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc138 coiled-coil domain containing 138 JBrowse link 20 28,076,784 28,158,053 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Gcc2 GRIP and coiled-coil domain containing 2 JBrowse link 20 27,832,960 27,879,764 RGD:8554872
G Lims1 LIM zinc finger domain containing 1 JBrowse link 20 27,895,981 28,004,767 RGD:8554872
G LOC100910235 sulfotransferase 1C1-like JBrowse link 9 4,323,997 4,328,175 RGD:8554872
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:7240710
RGD:8554872
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a JBrowse link 9 4,152,588 4,168,355 RGD:8554872
G Sult1c3 sulfotransferase family 1C member 3 JBrowse link 9 4,931,038 4,978,847 RGD:8554872
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efemp1 EGF containing fibulin extracellular matrix protein 1 JBrowse link 14 113,202,382 113,294,993 RGD:1598888
RGD:8554872
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 3 60,512,360 60,668,413 RGD:7240710
RGD:8554872
G Mafb MAF bZIP transcription factor B JBrowse link 3 156,338,993 156,340,913 RGD:8554872
RGD:7240710
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556210
RGD:11554173
RGD:11532205
RGD:11556232
RGD:11556231
RGD:11556215
RGD:11556211
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 5 150,001,281 150,027,407 RGD:8554872
RGD:7240710
episodic ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:1358446
RGD:8554872
RGD:11554173
RGD:7240710
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdx2 ferredoxin 2 JBrowse link 8 22,086,534 22,091,450 RGD:7240710
epithelial basement membrane dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
Facial Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcyap1 adenylate cyclase activating polypeptide 1 JBrowse link 9 121,705,897 121,725,736 RGD:2325258
G Atf2 activating transcription factor 2 JBrowse link 3 60,721,137 60,795,951 RGD:10047413
G Ccr3 C-C motif chemokine receptor 3 JBrowse link 8 133,026,539 133,040,999 RGD:6892922
G Cd59 CD59 molecule JBrowse link 3 94,010,481 94,028,660 RGD:1600495
G Csf1 colony stimulating factor 1 JBrowse link 2 210,522,370 210,550,546 RGD:5131509
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:5686912
G Gfra1 GDNF family receptor alpha 1 JBrowse link 1 279,203,046 279,572,789 RGD:6218984
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548634
G Mt3 metallothionein 3 JBrowse link 19 11,324,708 11,326,112 RGD:9685806
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 JBrowse link 4 51,590,413 51,598,771 RGD:2302319
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 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 63,130,542 63,140,181 RGD:8554872
RGD:7240710
facial paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547852
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:11554173
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:8554872
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 8 39,892,792 39,923,735 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 66,518,213 67,629,801 RGD:8554872
RGD:7240710
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Antxr1 ANTXR cell adhesion molecule 1 JBrowse link 4 118,946,267 119,131,202 RGD:9684854
RGD:8554872
RGD:7240710
Hereditary Congenital Facial Paresis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxb1 homeo box B1 JBrowse link 10 84,214,358 84,215,812 RGD:11554173
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxb1 homeo box B1 JBrowse link 10 84,214,358 84,215,812 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 JBrowse link X 9,815,652 10,156,155 RGD:734690
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:11554173
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:11554173
G Tmem126a transmembrane protein 126A JBrowse link 1 156,283,105 156,291,057 RGD:8554872
Hypoglossal Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 JBrowse link 11 25,342,119 25,350,938 RGD:5037239
G Aif1 allograft inflammatory factor 1 JBrowse link 20 5,161,350 5,167,176 RGD:704401
G Csnk2b casein kinase 2 beta JBrowse link 20 5,108,692 5,113,675 RGD:11565824
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8655640
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8655640
G Gfra1 GDNF family receptor alpha 1 JBrowse link 1 279,203,046 279,572,789 RGD:6218979
G Il1r1 interleukin 1 receptor type 1 JBrowse link 9 46,962,291 47,038,139 RGD:5037239
G Mcam melanoma cell adhesion molecule JBrowse link 8 48,472,824 48,481,005 RGD:7364787
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:13801045
G Prkaca protein kinase cAMP-activated catalytic subunit alpha JBrowse link 19 25,095,089 25,118,869 RGD:7327191
G Prkacb protein kinase cAMP-activated catalytic subunit beta JBrowse link 2 252,602,197 252,691,886 RGD:7327191
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:6218979
G Smad1 SMAD family member 1 JBrowse link 19 32,182,942 32,248,694 RGD:1643227
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:1643227
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:1643227
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:1643227
G Smad7 SMAD family member 7 JBrowse link 18 71,395,830 71,424,164 RGD:1643227
G Smad9 SMAD family member 9 JBrowse link 2 143,951,725 144,002,025 RGD:1643227
G Txnrd1 thioredoxin reductase 1 JBrowse link 7 26,946,124 26,984,400 RGD:5133729
Inclusion Body Myopathy 3, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Myh2 myosin heavy chain 2 JBrowse link 10 53,711,895 53,738,164 RGD:7240710
RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
infantile cerebellar-retinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:7240710
RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:7240710
RGD:8554872
RGD:11553925
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 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 1 16,478,127 16,601,769 RGD:1598905
RGD:8554872
RGD:11537395
RGD:11537390
RGD:11537388
RGD:11343130
RGD:11537387
RGD:1304518
RGD:11537346
RGD:7240710
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11537352
RGD:7246903
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11072184
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
RGD:11537350
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:7241824
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:13592920
Leber hereditary optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa4 apolipoprotein A4 JBrowse link 8 50,536,983 50,539,371 RGD:5685659
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:5688732
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:11554173
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:5490293
RGD:11554173
RGD:8554872
RGD:5508187
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5508685
RGD:8554872
RGD:11554173
RGD:8657118
RGD:8657116
RGD:5508712
RGD:5508689
RGD:5508187
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:5508187
RGD:11554173
RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:5508703
RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:1581057
RGD:8554872
RGD:11554173
RGD:5508187
RGD:5507829
RGD:5491183
RGD:1581059
RGD:1581058
G Mt-nd4l mitochondrially encoded NADH 4L dehydrogenase JBrowse link MT 9,870 10,166 RGD:5686339
RGD:11554173
RGD:8554872
RGD:5686341
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:1581060
RGD:11554173
RGD:8554872
RGD:5507826
RGD:5491202
RGD:5491183
RGD:5491172
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8657119
RGD:11554173
RGD:8554872
RGD:8657127
RGD:8657125
RGD:8657123
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:12902617
RGD:12902618
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:1599415
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:11554173
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:1599580
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158101
RGD:8158104
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:5688732
low tension glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenoceptor beta 1 JBrowse link 1 277,537,585 277,538,985 RGD:8548468
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7495800
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655604
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:8661774
G Cav2 caveolin 2 JBrowse link 4 44,573,264 44,580,640 RGD:8661774
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9491770
RGD:9491771
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:8661736
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:10402863
G Myoc myocilin JBrowse link 13 80,517,531 80,527,928 RGD:7771548
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:13592920
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:7771548
RGD:13592920
RGD:7775043
RGD:7775041
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:11554173
G Slc1a3 solute carrier family 1 member 3 JBrowse link 2 57,860,881 57,935,363 RGD:13592920
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655579
RGD:13592920
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7794768
RGD:7794769
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7775041
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:7387247
macular retinal edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoh apolipoprotein H JBrowse link 10 96,640,013 96,653,939 RGD:2315548
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:2306981
RGD:7829760
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:9068396
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:10400883
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8655594
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:10402117
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829760
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8549772
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7775044
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554903
RGD:8655546
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8549772
RGD:11554173
RGD:8655594
Marsden Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
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 20 47,731,713 47,910,466 RGD:7240710
RGD:8554872
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
RGD:8554872
RGD:7240710
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 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 3 138,397,925 138,406,672 RGD:7240710
RGD:8554872
Mobius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 JBrowse link 8 32,017,684 32,037,529 RGD:8554872
G Amh anti-Mullerian hormone JBrowse link 7 11,775,155 11,777,503 RGD:8554872
G Bcdin3d BCDIN3 domain containing RNA methyltransferase JBrowse link 7 141,132,106 141,136,700 RGD:8554872
G Bsn bassoon (presynaptic cytomatrix protein) JBrowse link 8 116,873,721 116,965,396 RGD:8554872
G Cdh11 cadherin 11 JBrowse link 19 2,391,181 2,551,245 RGD:8554872
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
G Fam71a family with sequence similarity 71, member A JBrowse link 13 109,768,019 109,770,199 RGD:8554872
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 9 60,451,476 60,843,160 RGD:8554872
G Hspb7 heat shock protein family B (small) member 7 JBrowse link 5 159,968,077 159,971,563 RGD:8554872
G Ints6l integrator complex subunit 6 like JBrowse link X 158,835,334 158,887,055 RGD:8554872
G Kbtbd7 kelch repeat and BTB domain containing 7 JBrowse link 15 61,692,041 61,696,506 RGD:8554872
G Kdm6b lysine demethylase 6B JBrowse link 10 56,000,494 56,009,582 RGD:8554872
G Mrpl28 mitochondrial ribosomal protein L28 JBrowse link 10 15,495,616 15,498,527 RGD:8554872
G Plcb2 phospholipase C, beta 2 JBrowse link 3 110,497,760 110,517,563 RGD:8554872
G Ptch2 patched 2 JBrowse link 5 135,962,252 135,983,816 RGD:8554872
G Sim1 SIM bHLH transcription factor 1 JBrowse link 20 55,590,810 55,674,002 RGD:8554872
G Zfp787 zinc finger protein 787 JBrowse link 1 71,416,042 71,447,195 RGD:8554872
Neurofibromatosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:7240710
RGD:8554872
RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8547955
RGD:8547957
neuromyelitis optica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148024
RGD:11554173
RGD:8696034
RGD:8696033
RGD:8696032
RGD:8696026
RGD:8695993
RGD:5148032
G Cd59 CD59 molecule JBrowse link 3 94,010,481 94,028,660 RGD:13792592
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask RGD:13792592
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829722
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547883
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7421588
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147590
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:5508767
non-arteritic anterior ischemic optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:8548899
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9491785
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:8554872
RGD:11554173
RGD:7240710
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:8693343
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:8693343
Nystagmus 1, Congenital, X- Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:7240710
RGD:11554173
RGD:8554872
Nystagmus 6, Congenital, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:7240710
RGD:8554872
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
Oculomelic Amyoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G Tgm6 transglutaminase 6 JBrowse link 3 122,644,183 122,680,054 RGD:8554872
Oculomotor Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:5684341
Oculootoradial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:7240710
RGD:8554872
olfactory neuroblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:8694471
ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:11554173
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
optic atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:11554173
G Mecr mitochondrial trans-2-enoyl-CoA reductase JBrowse link 5 150,001,281 150,027,407 RGD:8554872
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 3 79,721,686 79,728,863 RGD:11554173
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 RGD:11554173
G Oat ornithine aminotransferase JBrowse link 1 204,562,289 204,582,070 RGD:8554872
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:7800714
RGD:8554872
RGD:13592920
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:13592920
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q JBrowse link 10 15,289,530 15,305,593 RGD:8554872
G Rpl24 ribosomal protein L24 JBrowse link 11 47,116,885 47,122,093 RGD:13592920
G Slbp stem-loop binding protein JBrowse link 14 82,356,916 82,366,368 RGD:11554173
G Slc25a46 solute carrier family 25, member 46 JBrowse link 18 24,369,104 24,397,412 RGD:11554173
G Tbcd tubulin folding cofactor D JBrowse link 10 110,643,693 110,800,493 RGD:11554173
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8694404
Optic Atrophy 1 and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:7240710
RGD:8554872
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtn4ip1 reticulon 4 interacting protein 1 JBrowse link 20 48,881,124 48,924,921 RGD:8554872
RGD:7240710
Optic Atrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yme1l1 YME1-like 1 ATPase JBrowse link 17 89,701,899 89,741,919 RGD:8554872
RGD:7240710
Optic Atrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
RGD:7240710
Optic Atrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem126a transmembrane protein 126A JBrowse link 1 156,283,105 156,291,057 RGD:7240710
RGD:8554872
Optic Atrophy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872
Optic Atrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:7240710
RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872
Optic Atrophy and Cataract, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
Optic Atrophy, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:7240710
RGD:8554872
RGD:11554173
RGD:7800716
RGD:7800715
RGD:7800709
RGD:7800708
RGD:7800706
RGD:7800704
RGD:7800699
RGD:7800686
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7800683
Optic Nerve Aplasia, Bilateral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 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 20 4,363,152 4,366,079 RGD:8695971
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:8661688
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase 8 JBrowse link MT 7,758 7,961 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
optic nerve glioma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:9491391
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:12789442
RGD:8554872
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox2 SRY box 2 JBrowse link 2 121,165,137 121,167,545 RGD:8554872
Optic Nerve Hypoplasia, Bilateral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
Optic Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp activity-dependent neuroprotector homeobox JBrowse link 3 164,937,188 164,964,819 RGD:2312783
G Amigo3 adhesion molecule with Ig like domain 3 JBrowse link 8 116,830,773 116,832,299 RGD:14390159
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:2326035
G Aqp9 aquaporin 9 JBrowse link 8 77,559,621 77,599,781 RGD:2326035
G Arg2 arginase 2 JBrowse link 6 102,311,097 102,338,406 RGD:11554173
G Atf2 activating transcription factor 2 JBrowse link 3 60,721,137 60,795,951 RGD:10047417
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:10054098
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:10054098
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655584
RGD:8655637
RGD:8655586
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:5129542
G Cdk2 cyclin dependent kinase 2 JBrowse link 7 3,124,953 3,132,533 RGD:2293567
G Cfl1 cofilin 1 JBrowse link 1 220,869,805 220,873,337 RGD:11568693
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:5129542
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11039471
G Ctsb cathepsin B JBrowse link 15 46,316,741 46,337,613 RGD:2315508
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4892579
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:4892579
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:4892579
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:7349392
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8554854
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:6218970
G Gfra1 GDNF family receptor alpha 1 JBrowse link 1 279,203,046 279,572,789 RGD:6218970
G Gfra2 GDNF family receptor alpha 2 JBrowse link 15 52,557,004 52,648,984 RGD:6218970
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548549
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:5686431
RGD:10046025
G Jun Jun proto-oncogene, AP-1 transcription factor subunit JBrowse link 5 114,011,184 114,014,277 RGD:10047417
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:2326035
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8662362
G Nampt nicotinamide phosphoribosyltransferase JBrowse link 6 52,122,085 52,156,473 RGD:13781885
G Nefm neurofilament medium JBrowse link 15 44,855,307 44,860,604 RGD:9743936
G Neo1 neogenin 1 JBrowse link 8 63,649,871 63,756,394 RGD:9850142
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:5508695
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:5508695
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:5684908
G Pawr pro-apoptotic WT1 regulator JBrowse link 7 51,273,764 51,353,700 RGD:1299297
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552379
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:10449496
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:6767293
G Plau plasminogen activator, urokinase JBrowse link 15 3,644,296 3,650,765 RGD:6483802
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 JBrowse link 1 103,197,918 103,258,309 RGD:9835027
G Rhoa ras homolog family member A JBrowse link 8 117,082,440 117,116,244 RGD:1642826
G Snw1 SNW domain containing 1 JBrowse link 6 111,483,698 111,507,782 RGD:11035254
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7794777
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:7794683
RGD:8661743
G Tradd TNFRSF1A-associated via death domain JBrowse link 19 37,214,461 37,221,099 RGD:7794683
G Ybx3 Y box binding protein 3 JBrowse link 4 165,606,819 165,630,041 RGD:2311250
optic neuritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:8696036
RGD:9685553
G Capn1 calpain 1 JBrowse link 1 221,346,081 221,370,965 RGD:11554173
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068881
G Ccr5 C-C motif chemokine receptor 5 JBrowse link 8 133,192,398 133,215,599 RGD:8551840
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:5686855
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:5148007
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:5148007
G Mog myelin oligodendrocyte glycoprotein JBrowse link 20 2,003,871 2,014,284 RGD:9685553
RGD:9685554
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7483596
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365050
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158052
pathologic nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cngb3 cyclic nucleotide gated channel beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:11554173
G Rubcn rubicon autophagy regulator JBrowse link 11 71,150,506 71,199,254 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
PEHO Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc88a coiled coil domain containing 88A JBrowse link 14 113,771,093 113,936,376 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548849
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Znhit3 zinc finger, HIT-type containing 3 JBrowse link 10 72,227,710 72,235,932 RGD:8554872
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 17 53,983,126 54,029,028 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh1 ribonuclease H1 JBrowse link 6 47,916,188 47,925,582 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
RGD:7240710
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 4 98,648,513 98,709,695 RGD:11554173
G Map2k6 mitogen-activated protein kinase kinase 6 JBrowse link 10 98,707,160 98,823,054 RGD:7495833
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8158100
RGD:8158099
RGD:8158095
G Mobp myelin-associated oligodendrocyte basic protein JBrowse link 8 128,824,420 128,854,492 RGD:11554173
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552652
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:8657142
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655859
G Srsf2 serine and arginine rich splicing factor 2 JBrowse link 10 105,792,779 105,795,986 RGD:11554173
G Stx6 syntaxin 6 JBrowse link 13 72,804,218 72,850,757 RGD:11554173
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:5687185
G Tra2b transformer 2 beta homolog JBrowse link 11 82,373,828 82,392,208 RGD:11554173
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:7240710
RGD:8554872
Senior-Loken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:13592920
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:8554872
RGD:13592920
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 5 169,570,327 169,658,875 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
RGD:11554173
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:8554872
RGD:13592920
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
RGD:13592920
G Tmem218 transmembrane protein 218 JBrowse link 8 39,687,280 39,702,722 RGD:13592920
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11552600
Senior-Loken Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:7240710
RGD:8554872
RGD:11537383
Senior-Loken Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 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 14 44,705,012 44,767,120 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 9 98,621,499 98,658,223 RGD:7240710
RGD:8554872
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694285
RGD:8694282
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:11554173
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
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 6 38,474,773 38,777,146 RGD:7240710
RGD:8554872
spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:11532672
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:8554872
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Vamp1 vesicle-associated membrane protein 1 JBrowse link 4 157,726,941 157,733,644 RGD:7240710
RGD:8554872
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:7240710
RGD:8554872
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 9 64,434,814 64,437,730 RGD:7240710
RGD:8554872
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtpap mitochondrial poly(A) polymerase JBrowse link 17 56,046,507 56,068,185 RGD:7240710
RGD:8554872
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 63,141,418 63,185,510 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 1 211,922,389 211,923,929 RGD:8554872
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 6 44,225,142 44,322,938 RGD:8554872
RGD:7240710
SPOAN syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klc2 kinesin light chain 2 JBrowse link 1 220,492,174 220,502,397 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 13 98,023,528 98,079,138 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:8699500
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G Med13l mediator complex subunit 13-like JBrowse link 12 43,421,317 43,576,859 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:8554872
G Sox5 SRY box 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
Trigeminal Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8547771
trigeminal neuralgia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aif1 allograft inflammatory factor 1 JBrowse link 20 5,161,350 5,167,176 RGD:11554173
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:11554173
G Cdk5 cyclin-dependent kinase 5 JBrowse link 4 7,282,945 7,287,427 RGD:13782378
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 JBrowse link 10 67,862,054 67,863,255 RGD:13782378
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:11554173
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:11554173
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:11554173
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:11554173
G Mapk8 mitogen-activated protein kinase 8 JBrowse link 16 9,620,854 9,709,342 RGD:11554173
G Mapk9 mitogen-activated protein kinase 9 JBrowse link 10 35,333,859 35,374,364 RGD:11554173
G Prkcg protein kinase C, gamma JBrowse link 1 64,407,098 64,433,698 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
vestibular neuronitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9491594
Vestibulocochlear Nerve Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb2 adrenoceptor beta 2 JBrowse link 18 57,513,792 57,515,834 RGD:8548530
Warburg micro syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 17 59,844,781 59,876,170 RGD:8554872
RGD:11554173
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:11554173
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
RGD:11554173
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 3 147,772,006 147,790,946 RGD:11554173
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872
Warburg micro syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:7240710
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872
Warburg micro syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 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 17 59,844,781 59,876,170 RGD:7240710
RGD:8554872
Warburg micro syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 3 147,772,006 147,790,946 RGD:7240710
RGD:8554872
Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490247
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 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 14 78,640,707 78,665,224 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 2 240,586,754 240,611,560 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10045603
RGD:10045601
G Slc9b1 solute carrier family 9 member B1 JBrowse link 2 240,527,120 240,581,616 RGD:8554872
Wolfram-Like Syndrome, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
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 34,312,102 34,675,912 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        peripheral nervous system disease 2017
          neuropathy 1838
            cranial nerve disease 360
              Cranial Nerve Injuries + 74
              Cranial Nerves, Congenital Paresis of 0
              Cranial Nerves, Recurrent Paresis of 0
              Ophthalmoplegic Migraine 0
              Vagus nerve disease + 14
              accessory nerve disease + 0
              cranial nerve neoplasm + 15
              cranial nerve palsy + 0
              facial nerve disease + 49
              glossopharyngeal nerve disease + 34
              hypoglossal nerve disease + 19
              jaw-winking syndrome 0
              ocular motility disease + 104
              olfactory nerve disease + 1
              optic nerve disease + 189
              third cranial nerve disease + 2
              trigeminal nerve disease + 15
              trochlear nerve disease + 0
              vestibulocochlear nerve disease + 19
paths to the root

NHLBI Logo

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