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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:optic nerve disease
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Accession:DOID:1891 term browser browse the term
Definition:Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.
Synonyms:exact_synonym: Neural Optical Lesion;   Neural-Optical Lesions;   Optic Disk Disorder;   Optic Disk Disorders;   Optic Neuropathies;   cranial nerve II diseases;   cranial nerve II disorder;   disorder of the second nerve;   optic nerve diseases;   optic nerve disorder;   optic neuropathy;   second cranial nerve diseases
 primary_id: MESH:D009901
 alt_id: RDO:0006240
 xref: NCI:C79698
For additional species annotation, visit the Alliance of Genome Resources.


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optic nerve disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO associated with Alzheimer Disease;protein:increased expression:optic nerve RGD PMID:19277685 RGD:8695971 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G EDN1 endothelin 1 ISO human protein in a rat model RGD PMID:18442442 RGD:8661688 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:25356970 NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:28027978 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:28027978 NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
anterior ischemic optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BECN1 beclin 1 ISO protein:decreased expression:retina RGD PMID:21490676 RGD:6483070 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:24316388 RGD:11039419 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4132G>A (human) RGD PMID:17454741 RGD:5490236 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO DNA:snp:promoter:g.-786T>C (human) RGD PMID:16633797 RGD:7775040 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDXR ferredoxin reductase ISO OMIM NCBI chr 9:5,567,411...5,577,427
Ensembl chr 9:5,567,328...5,577,277
JBrowse link
autoimmune optic neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEFH neurofilament heavy severity ISO RGD PMID:23316360 RGD:27226805 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO OMIM NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
JBrowse link
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM172A family with sequence similarity 172 member A ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 3:15,281,442...15,695,303
Ensembl chr 3:15,281,448...15,694,715
JBrowse link
G KIAA0825 KIAA0825 ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 3:14,868,609...15,251,247
Ensembl chr 3:14,893,203...15,249,730
JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 ISO OMIM NCBI chr 3:15,707,198...15,716,875
Ensembl chr 3:15,707,640...15,716,875
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO OMIM NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SACS sacsin molecular chaperone ISO OMIM NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
JBrowse link
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC44A1 solute carrier family 44 member 1 ISO OMIM NCBI chr11:61,120,858...61,313,250
Ensembl chr11:61,120,176...61,312,590
JBrowse link
cystoid macular edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191
JBrowse link
G PRPF31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 1:103,073,359...103,090,652
Ensembl chr 1:103,073,380...103,090,652
JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:1862076, PMID:30311386 NCBI chr20:5,630,735...5,638,906 JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIMM8A translocase of inner mitochondrial membrane 8A ISO OMIM NCBI chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288
JBrowse link
dominant optic atrophy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO OMIM NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
JBrowse link
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO OMIM NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187
JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina ClinVar PMID:11139241, PMID:25675413, PMID:25741868, PMID:26842753, PMID:28492532 NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175
JBrowse link
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MECR mitochondrial trans-2-enoyl-CoA reductase ISO OMIM NCBI chr 2:71,369,768...71,400,499
Ensembl chr 2:71,369,806...71,400,499
JBrowse link
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDX2 ferredoxin 2 ISO OMIM NCBI chr20:50,798,250...50,802,477 JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:16155110, PMID:25741868, PMID:30311386 NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162
JBrowse link
G SLC25A42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:25741868, PMID:26541337, PMID:29327420, PMID:29923093, PMID:30237576 NCBI chr20:44,043,672...44,074,691
Ensembl chr20:44,044,665...44,065,282
JBrowse link
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 ISO OMIM NCBI chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127
JBrowse link
Hereditary Optic Atrophies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASK calcium/calmodulin dependent serine protein kinase ISO RGD PMID:9722958 RGD:734690 NCBI chr  X:35,939,117...36,296,438
Ensembl chr  X:35,940,647...36,297,014
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8662757, PMID:11695835 NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10072046 NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
JBrowse link
G TMEM126A transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic Atrophy, Recessive ClinVar NCBI chr21:13,787,074...13,795,779
Ensembl chr21:13,787,123...13,795,739
JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO OMIM NCBI chr10:23,742,284...23,798,580
Ensembl chr10:23,742,333...23,798,498
JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041, PMID:25351951, PMID:25741868 NCBI chr10:23,728,697...23,742,345
Ensembl chr10:23,728,998...23,741,349
JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar PMID:1258954, PMID:12140190, PMID:15976030, PMID:17167404, PMID:18554571, PMID:18648522, PMID:19169412, PMID:19753314, PMID:20361016, PMID:21670352, PMID:22142163, PMID:22605927, PMID:22892318, PMID:23112574, PMID:23143909, PMID:23742260, PMID:24088041, PMID:24531000, PMID:25097241, PMID:25412400, PMID:25741868, PMID:26583794, PMID:26633545, PMID:28492532, PMID:29170418, PMID:29450879, PMID:30181649 NCBI chr 5:14,561,115...14,563,277
Ensembl chr 5:14,562,350...14,563,309
JBrowse link
G MFRP membrane frizzled-related protein ISO OMIM NCBI chr 5:14,555,619...14,561,577
Ensembl chr 5:14,556,065...14,561,623
JBrowse link
Leber hereditary optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18061280 RGD:5685659 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837
JBrowse link
G EPHX1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr12:40,443,759...40,527,300
Ensembl chr12:40,444,617...40,527,292
JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670, PMID:17011878 NCBI chr15:52,399,773...52,409,590
Ensembl chr15:52,399,544...52,406,176
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human)
DNA:transition:CDS:c.8668T>C, p.W48R
CTD
ClinVar
RGD
PMID:7726182, PMID:19026397, PMID:20454697 RGD:5490293, RGD:5508187 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
CTD
ClinVar
PMID:7573056, PMID:7804416, PMID:8037217, PMID:8240356, PMID:25741868, PMID:30311386 NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427
JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
CTD
ClinVar
PMID:1732158, PMID:1764087, PMID:7901141, PMID:8240104, PMID:8321540, PMID:8755941, PMID:25741868 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:missense mutation:cds:m.3866T>C (p.I187T) (human)
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar Annotator: match by term: Leber Hereditary Optic Neuropathy
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:m.3635G>A (human)
DNA:snp:cds:m.3394T>C (human)
DNA:missense mutation:cds:p.L289M (m.4171C>A) (human)
DNA:transition:CDS:c.3460G>A, p.A52T
DNA:snps:cds:m.4136A>G, m.4160T>C (human)
RGD
ClinVar
CTD
PMID:1417830, PMID:1442494, PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:2018041, PMID:8496715, PMID:11479733, PMID:11854175, PMID:12112111, PMID:12205655, PMID:15342361, PMID:15466014, PMID:15505787, PMID:15972314, PMID:16738010, PMID:16969869, PMID:17562939, PMID:17620555, PMID:18216301, PMID:19324017, PMID:19497304, PMID:19555656, PMID:20454697, PMID:22577081, PMID:22879922, PMID:24569607, PMID:24830958, PMID:24884847, PMID:25194554, PMID:27449621, PMID:29991444 RGD:5508187, RGD:5508685, RGD:5508689, RGD:5508712, RGD:8657116, RGD:8657118 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:transversion:CDS:c.4852T>A, p.L128Q
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1732158, PMID:1900003, PMID:11479733, PMID:20454697 RGD:5508187 NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA: mutation
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
ClinVar Annotator: match by term: Leber's optic atrophy
RGD
ClinVar
PMID:12227465, PMID:17152068, PMID:17413873, PMID:19458970 RGD:5508703 NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
DNA:transition:CDS:c.11778G>A (p.R340H) (human)
DNA:mutation:exon:p.R340H(human)
DNA:mutation:exon: 11778G>A
DNA:mutation: :m.11696G>A(human)
CTD
ClinVar
RGD
PMID:1346348, PMID:1352537, PMID:1469456, PMID:1734726, PMID:1763894, PMID:1770533, PMID:1770665, PMID:1866007, PMID:1900003, PMID:1937476, PMID:1959619, PMID:1959931, PMID:2039048, PMID:2222273, PMID:2286378, PMID:2346190, PMID:2346203, PMID:2390098, PMID:2566021, PMID:2566116, PMID:2575667, PMID:2817063, PMID:3201231, PMID:8101084, PMID:8240101, PMID:8240102, PMID:8448903, PMID:8449667, PMID:8457609, PMID:8474822, PMID:8489402, PMID:8489411, PMID:8644732, PMID:9150158, PMID:11169561, PMID:11854175, PMID:12402249, PMID:12436196, PMID:12560876, PMID:12707444, PMID:15342361, PMID:15576045, PMID:16120329, PMID:16364244, PMID:16431939, PMID:16477364, PMID:16532388, PMID:18771762, PMID:19022198, PMID:19026397, PMID:20454697, PMID:24569607, PMID:25741868 RGD:1581057, RGD:1581058, RGD:1581059, RGD:5491183, RGD:5507829, RGD:5508187 NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578
JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO DNA:mutation:exon:p.Y159H(human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:mutation: :m.13708G>A (human)
DNA:mutation:exon:13042G>A (A236T) (human)
DNA:mutation:: m.12338 T>C
RGD
ClinVar
CTD
PMID:1417830, PMID:1732158, PMID:1764087, PMID:1900003, PMID:8213825, PMID:12509858, PMID:12736867, PMID:15767514, PMID:16240359, PMID:16816025, PMID:17400793, PMID:18332249, PMID:19022198, PMID:21131053, PMID:27164671 RGD:1581060, RGD:5491172, RGD:5491183, RGD:5491202, RGD:5507826 NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
DNA:mutation: :m.13997G>A (p.P25L) (mouse)
DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)
DNA:missense mutations, haplotypes:cds:multiple
DNA:SNP, haplotypes: :m.14484T>C (human)
CTD
ClinVar
RGD
PMID:1463007, PMID:1634041, PMID:5511487, PMID:7654063, PMID:8016139, PMID:8470982, PMID:8622678, PMID:8644732, PMID:8854108, PMID:9012411, PMID:9177303, PMID:9849804, PMID:10072046, PMID:10631164, PMID:10894222, PMID:11133798, PMID:12112086, PMID:12205655, PMID:12736867, PMID:12827453, PMID:14735585, PMID:15342361, PMID:15922297, PMID:15954041, PMID:16380132, PMID:18674747, PMID:19732751, PMID:23129651, PMID:23665487, PMID:24398099, PMID:24569607, PMID:29987491 RGD:8657119, RGD:8657123, RGD:8657125, RGD:8657127 NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:m.10680G>A (p.A71T) (human)
RGD
ClinVar
CTD
PMID:8680405, PMID:11935318, PMID:19394449 RGD:5686339, RGD:5686341 NCBI chr MT:9,911...10,207
Ensembl chr MT:9,911...10,207
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:25741868 NCBI chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279
JBrowse link
G PARL presenilin associated rhomboid like no_association ISO DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) RGD PMID:20407791, PMID:20711738 RGD:12902617, RGD:12902618 NCBI chr34:16,790,049...16,837,557
Ensembl chr34:16,781,139...16,837,545
JBrowse link
G RDH12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr 8:41,685,045...41,696,120
Ensembl chr 8:41,684,996...41,695,447
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753, PMID:17011878 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131
JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:12601034, PMID:15293270 RGD:8158101, RGD:8158104 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TP53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G VCAN versican ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:30311386 NCBI chr 3:24,127,293...24,238,859
Ensembl chr 3:24,119,181...24,239,192
JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia ClinVar PMID:17152068, PMID:17413873, PMID:19458970 NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842
JBrowse link
Leber plus disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leber plus disease ClinVar PMID:25741868 NCBI chr24:8,810,682...8,873,212
Ensembl chr24:8,837,253...8,873,176
JBrowse link
low tension glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB1 adrenoceptor beta 1 susceptibility ISO DNA:polymorphism:cds:p.R389G(human) RGD PMID:16785856 RGD:8548468 NCBI chr28:24,908,224...24,909,684
Ensembl chr28:24,908,224...24,909,684
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CAV1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CAV2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chr14:55,437,622...55,445,481
Ensembl chr14:55,437,622...55,445,469
JBrowse link
G CRP C-reactive protein no_association ISO protein:increased expression:plasma: RGD PMID:16148587, PMID:22966842 RGD:9491770, RGD:9491771 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20858111 RGD:10402863 NCBI chr37:7,010,421...7,025,912 JBrowse link
G MYOC myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chr 7:27,335,314...27,346,821
Ensembl chr 7:27,335,314...27,346,820
JBrowse link
G OPTN optineurin susceptibility ISO DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
DNA:SNPs:exon,introns:
DNA:polymorphism:exon:p.M98K(human)
RGD PMID:15226658, PMID:15557444, PMID:16148883 RGD:7771548, RGD:7775041, RGD:7775043 NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28703795 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260
JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:decreased expression:serum (human) RGD PMID:21421868 RGD:8655579 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association
ISO DNA:polymorphism,haplotype:multiple:
DNA:polymorphisms:multiple:
RGD PMID:21921986, PMID:22831837 RGD:7794768, RGD:7794769 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TP53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
macular retinal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOH apolipoprotein H ISO associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: RGD PMID:16080911 RGD:2315548 NCBI chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human)
associated with Diabetic Retinopathy;protein:increased expression:vitreous humor
RGD PMID:19118698, PMID:22066978 RGD:2306981, RGD:7829760 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CLU clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G EPO erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G FGF2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: RGD PMID:24894397 RGD:10402117 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G GPR179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 9:23,810,560...23,827,684
Ensembl chr 9:23,810,474...23,826,087
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr17:20,355,778...20,399,869 JBrowse link
G IL6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous: RGD PMID:22066978 RGD:7829760 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G KDR kinase insert domain receptor ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor RGD PMID:23411880 RGD:8549772 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G NDP norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:37,949,560...37,975,573
Ensembl chr  X:37,950,489...37,975,346
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) RGD PMID:15333482 RGD:7775044 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
JBrowse link
G ROM1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr18:54,025,603...54,027,803
Ensembl chr18:54,025,606...54,027,375
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO associated with Diabetes Mellitus, Experimental; human protein in a rat model
associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human)
RGD PMID:20714746, PMID:21139695 RGD:8554903, RGD:8655546 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:28492532, PMID:30311386 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism
associated with retinal vein occlusion;protein:increased expression:vitreous humor
associated with Diabetes Mellitus;protein:increased expression:aqueous humor
CTD
RGD
PMID:17505145, PMID:20577866, PMID:23411880 RGD:8549772, RGD:8655594 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEC31A SEC31 homolog A, COPII coat complex component ISO OMIM NCBI chr32:6,761,018...6,840,802
Ensembl chr32:6,761,289...6,840,709
JBrowse link
neuromyelitis optica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 disease_progression ISO DNA:polymorphism:promoter:-1003A>G(human)
CTD Direct Evidence: marker/mechanism
associated withHiccup;
RGD
CTD
PMID:16087714, PMID:18420727, PMID:18509235, PMID:20047900, PMID:22271321, PMID:23116879, PMID:23890015, PMID:23995423, PMID:24070676 RGD:5148024, RGD:5148032, RGD:8695993, RGD:8696026, RGD:8696032, RGD:8696033, RGD:8696034 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G CD59 CD59 molecule severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329
JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr 9:18,569,868...18,579,463
Ensembl chr 9:18,569,892...18,579,461
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD PMID:21748712, PMID:27049564 RGD:11530523, RGD:5147590 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD PMID:21908482, PMID:27049564 RGD:11530523, RGD:7421588 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
JBrowse link
G MBP myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NEFH neurofilament heavy ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
JBrowse link
non-arteritic anterior ischemic optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme onset ISO DNA:insertion/deletion:intron RGD PMID:21633717 RGD:8548899 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (1691G>A) (human) RGD PMID:15043529 RGD:7394764 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha susceptibility ISO ClinVar Annotator: match by term: Nonarteritic anterior ischemic optic neuropathy, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1693792, PMID:3303030, PMID:6235867, PMID:14711733 NCBI chr 5:31,681,605...31,683,261 JBrowse link
G ITGB3 integrin subunit beta 3 susceptibility ISO DNA:polymorphism: : RGD PMID:20162297 RGD:8693343 NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :677C>T(human) RGD PMID:20162297 RGD:8693343 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
optic atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr20:57,668,371...57,684,111
Ensembl chr20:57,667,706...57,677,342
JBrowse link
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:23,742,284...23,798,580
Ensembl chr10:23,742,333...23,798,498
JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:26539208, PMID:29181157, PMID:32219868 NCBI chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367
JBrowse link
G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr16:54,293,534...54,378,706
Ensembl chr16:54,293,435...54,347,555
JBrowse link
G ATP8A2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr25:13,490,550...14,066,942
Ensembl chr25:13,495,970...14,066,513
JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 7:41,566,274...41,583,903
Ensembl chr 7:41,566,292...41,584,863
JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:10508521, PMID:15024725, PMID:20956273, PMID:22968130, PMID:23449718, PMID:24715753, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470
JBrowse link
G CYRIA CYFIP related Rac1 interactor A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr17:12,208,319...12,311,775
Ensembl chr17:12,211,494...12,270,152
JBrowse link
G DDX1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr17:11,432,060...11,467,000
Ensembl chr17:11,432,136...11,466,990
JBrowse link
G DNM1L dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957
JBrowse link
G GBA glucosylceramidase beta ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687
JBrowse link
G LOC474539 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:27817865, PMID:32313153 NCBI chr 2:71,369,768...71,400,499
Ensembl chr 2:71,369,806...71,400,499
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:28027978 NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr17:11,720,857...11,724,308 JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr18:42,069,402...42,075,843
Ensembl chr18:42,069,398...42,076,921
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661
JBrowse link
G OAT ornithine aminotransferase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:30311386 NCBI chr28:33,763,661...33,788,817
Ensembl chr28:33,758,473...33,788,759
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO DNA:splice-site mutation, insertion:intron:c.579_580insTT, c.871-1G>T (human)
ClinVar Annotator: match by term: Optic atrophy
RGD
ClinVar
PMID:16735988, PMID:17722006, PMID:21636302, PMID:25012220, PMID:25741868, PMID:28492532, PMID:30311386 RGD:7800714 NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29261713, PMID:29720203, PMID:30311386 NCBI chr 1:106,695,649...106,707,229
Ensembl chr 1:106,694,589...106,702,150
JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr10:23,728,697...23,742,345
Ensembl chr10:23,728,998...23,741,349
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689
JBrowse link
G SLBP stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 3:62,386,982...62,401,541
Ensembl chr 3:62,386,977...62,400,891
JBrowse link
G SLC25A46 solute carrier family 25 member 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168012 NCBI chr 3:1,700,310...1,715,841
Ensembl chr 3:1,702,905...1,756,025
JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr17:34,472,638...34,505,332
Ensembl chr17:34,472,767...34,505,333
JBrowse link
G TBCD tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr10:7,169,664...7,208,890
Ensembl chr10:7,168,007...7,208,899
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutation:cds:p.R456H (rs1801206) (human)
ClinVar Annotator: match by term: Optic atrophy
RGD
ClinVar
PMID:23595122, PMID:30311386 RGD:8694404 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
optic atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO OMIM NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
optic atrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTN4IP1 reticulon 4 interacting protein 1 ISO OMIM NCBI chr12:63,926,803...63,972,417
Ensembl chr12:63,926,799...63,972,369
JBrowse link
optic atrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YME1L1 YME1 like 1 ATPase ISO OMIM NCBI chr 2:6,785,472...6,829,188
Ensembl chr 2:6,737,487...6,829,089
JBrowse link
Optic Atrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO OMIM NCBI chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472
JBrowse link
optic atrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO OMIM NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Optic atrophy 5 ClinVar PMID:15364948, PMID:17460227, PMID:20696759, PMID:25741868, PMID:26604000, PMID:26825290, PMID:26931468, PMID:26992161, PMID:27145208, PMID:27328748, PMID:28492532, PMID:29877124, PMID:30850373 NCBI chr27:16,139,462...16,162,701
Ensembl chr27:16,139,499...16,161,147
JBrowse link
optic atrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM126A transmembrane protein 126A ISO OMIM NCBI chr21:13,787,074...13,795,779
Ensembl chr21:13,787,123...13,795,739
JBrowse link
optic atrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO OMIM NCBI chr10:23,742,284...23,798,580
Ensembl chr10:23,742,333...23,798,498
JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:25351951 NCBI chr10:23,728,697...23,742,345
Ensembl chr10:23,728,998...23,741,349
JBrowse link
optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CX3CR1 C-X3-C motif chemokine receptor 1 onset ISO associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
JBrowse link
G NF1 neurofibromin 1 susceptibility ISO associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma
RGD
ClinVar
PMID:21278392, PMID:25741868, PMID:28492532, PMID:29483232 RGD:12789442 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system ClinVar PMID:15578584, PMID:15812812, PMID:16145681, PMID:16932809, PMID:17219395, PMID:19921648, PMID:20803647, PMID:27427475 NCBI chr34:14,853,000...14,855,153 JBrowse link
Optic Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox ISO RGD PMID:18414890 RGD:2312783 NCBI chr24:37,211,776...37,245,938
Ensembl chr24:37,213,942...37,243,702
JBrowse link
G AMIGO3 adhesion molecule with Ig like domain 3 treatment ISO RGD PMID:23613963 RGD:14390159 NCBI chr20:39,554,028...39,557,129
Ensembl chr20:39,554,629...39,556,155
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20216911 RGD:2326035 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G AQP9 aquaporin 9 ISO RGD PMID:20216911 RGD:2326035 NCBI chr30:23,223,413...23,271,893
Ensembl chr30:23,225,331...23,269,076
JBrowse link
G ARG2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chr 8:41,588,051...41,619,406
Ensembl chr 8:41,588,150...41,619,402
JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:10366744 RGD:10047417 NCBI chr36:19,032,376...19,103,382
Ensembl chr36:19,010,717...19,103,292
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:9520478, PMID:11050383, PMID:15140649 RGD:8655584, RGD:8655586, RGD:8655637 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G C3 complement C3 ISO mRNA:increased expression:optic nerve RGD PMID:14577867 RGD:5129542 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CDK2 cyclin dependent kinase 2 ISO mRNA:increased expression:retina RGD PMID:16723461 RGD:2293567 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438
JBrowse link
G CFL1 cofilin 1 treatment ISO RGD PMID:27443501 RGD:11568693 NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212
JBrowse link
G CLU clusterin ISO RGD PMID:14577867 RGD:5129542 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:20144610 RGD:11039471 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G CTSB cathepsin B ISO protein:increased expression:retina (rat) RGD PMID:18775855 RGD:2315508 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G EDNRA endothelin receptor type A ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463
JBrowse link
G EDNRB endothelin receptor type B ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
JBrowse link
G EP300 E1A binding protein p300 ISO human gene in rat model RGD PMID:21705428 RGD:7349392 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:14664816 RGD:8554854 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:15144875 RGD:6218970 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO RGD PMID:15144875 RGD:6218970 NCBI chr28:26,707,592...26,910,029
Ensembl chr28:26,709,645...26,909,992
JBrowse link
G GFRA2 GDNF family receptor alpha 2 ISO RGD PMID:15144875 RGD:6218970 NCBI chr25:35,436,790...35,521,661
Ensembl chr25:35,436,317...35,520,365
JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:21443522 RGD:8548549 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:increased expression:retina:
protein: altered activity: eye
RGD PMID:19484445, PMID:23648097 RGD:10046025, RGD:5686431 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:10366744 RGD:10047417 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:20216911 RGD:2326035 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO mRNA:increased expression:retina RGD PMID:12076086 RGD:8662362 NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28032230 RGD:13781885 NCBI chr18:14,110,045...14,211,268
Ensembl chr18:13,993,022...14,208,657
JBrowse link
G NEFM neurofilament medium ISO RGD PMID:8501527 RGD:9743936 NCBI chr25:32,493,517...32,498,615
Ensembl chr25:32,493,675...32,498,570
JBrowse link
G NEO1 neogenin 1 ISO protein:increased expression:retina RGD PMID:21887516 RGD:9850142 NCBI chr30:36,387,425...36,622,491
Ensembl chr30:36,387,259...36,622,154
JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:20943663 RGD:5508695 NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:20943663 RGD:5508695 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20357199 RGD:5684908 NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032
JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA:increased expression:retina: RGD PMID:12836167 RGD:1299297 NCBI chr15:22,114,014...22,159,287 JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:decreased expression:nerve fiber: RGD PMID:9893812 RGD:10449496 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:optic nerve (rat) RGD PMID:22336118 RGD:6767293 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
JBrowse link
G PLAU plasminogen activator, urokinase ISO mRNA:increased expression:optic nerve (rat) RGD PMID:20798533 RGD:6483802 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 ISO protein:increased expression:retina (rat) RGD PMID:15555919 RGD:9835027 NCBI chr21:41,097,563...41,154,247
Ensembl chr21:41,097,569...41,136,706
JBrowse link
G RHOA ras homolog family member A ISO protein:increased expression, altered localization:retina RGD PMID:17534117 RGD:1642826 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
G SNW1 SNW domain containing 1 ISO protein:increased expression:retina (rat) RGD PMID:25074585 RGD:11035254 NCBI chr 8:50,478,924...50,512,360
Ensembl chr 8:50,479,338...50,512,243
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:optic nerve RGD PMID:23103505 RGD:7794777 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:14697498, PMID:18552980 RGD:7794683, RGD:8661743 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TRADD TNFRSF1A associated via death domain ISO protein:increased expression: retina RGD PMID:18552980 RGD:7794683 NCBI chr 5:82,200,430...82,211,430
Ensembl chr 5:82,206,111...82,210,963
JBrowse link
G YBX3 Y-box binding protein 3 ISO mRNA:increased expression:retinal ganglion cell RGD PMID:11750989 RGD:2311250 NCBI chr27:35,043,756...35,066,230
Ensembl chr27:35,043,699...35,066,227
JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO protein:decreased expression:retinal ganglion cell layer (rat) RGD PMID:21705428 RGD:7349392 NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131
JBrowse link
optic neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 disease_progression ISO RGD PMID:22157536, PMID:23024849 RGD:8696036, RGD:9685553 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G CAPN1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23860028 NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757
JBrowse link
G CAT catalase treatment ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:18055782 RGD:9068881 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:11966770 RGD:8551840 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve RGD PMID:20151287 RGD:5686855 NCBI chr30:38,465,486...38,498,365
Ensembl chr30:38,465,241...38,497,971
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:22167100 RGD:7365050 NCBI chr12:2,151,409...2,164,564 JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:9006417 RGD:7483596 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO RGD PMID:22157536, PMID:23860028 RGD:9685553, RGD:9685554 NCBI chr35:26,256,311...26,267,357
Ensembl chr35:26,256,489...26,266,832
JBrowse link
G NEFH neurofilament heavy severity ISO protein:increased expression:serum: RGD PMID:15258226, PMID:29085182 RGD:27226813, RGD:27226814 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G SOD2 superoxide dismutase 2 ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:17251466 RGD:8158052 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC88A coiled-coil domain containing 88A ISO ClinVar Annotator: match by term: Peho-like syndrome ClinVar PMID:26917597 NCBI chr10:56,167,907...56,300,974
Ensembl chr10:56,170,479...56,300,908
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300, PMID:25253658, PMID:25265257, PMID:25741868, PMID:26125038, PMID:26486474, PMID:28492532, PMID:31805580 NCBI chr25:50,855,703...50,945,014
Ensembl chr25:50,858,698...50,944,964
JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 ISO OMIM NCBI chr 9:36,378,226...36,383,906
Ensembl chr 9:36,378,211...36,383,966
JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBCE tubulin folding cofactor E ISO OMIM NCBI chr 4:4,490,892...4,569,401
Ensembl chr 4:4,490,994...4,569,357
JBrowse link
Senior-Loken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112
JBrowse link
G C15H12orf29 chromosome 15 C12orf29 homolog ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868, PMID:28492532 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar Annotator: match by term: Senior Loken syndrome
ClinVar PMID:15723066, PMID:20881296, PMID:21220633, PMID:21245082, PMID:21866095, PMID:23188109, PMID:23446637, PMID:23847139, PMID:24033266, PMID:24625443, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr33:25,046,975...25,113,252
Ensembl chr33:25,047,172...25,112,652
JBrowse link
G NPHP1 nephrocystin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loken-Senior syndrome
CTD
ClinVar
PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425
JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:28492532 NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr 7:34,395,977...34,631,479
Ensembl chr 7:34,396,345...34,631,462
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Senior Loken syndrome ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674
JBrowse link
G WDR19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512
JBrowse link
Senior-Loken Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP1 nephrocystin 1 ISO OMIM NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425
JBrowse link
Senior-Loken Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP3 nephrocystin 3 ISO OMIM NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805
JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP4 nephrocystin 4 ISO OMIM NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386
JBrowse link
Senior-Loken Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IQCB1 IQ motif containing B1 ISO OMIM NCBI chr33:25,046,975...25,113,252
Ensembl chr33:25,047,172...25,112,652
JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C15H12orf29 chromosome 15 C12orf29 homolog ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861
JBrowse link
G CEP290 centrosomal protein 290 ISO OMIM NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
Senior-Loken Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112
JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 7:34,264,994...34,395,355
Ensembl chr 7:34,266,147...34,364,497
JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 7:33,422,964...33,836,252
Ensembl chr 7:33,429,409...33,836,258
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO OMIM NCBI chr 7:34,395,977...34,631,479
Ensembl chr 7:34,396,345...34,631,462
JBrowse link
Senior-Loken Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR19 WD repeat domain 19 ISO OMIM NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512
JBrowse link
Senior-Loken Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAF3IP1 TRAF3 interacting protein 1 ISO OMIM NCBI chr25:48,782,448...48,836,993
Ensembl chr25:48,782,463...48,834,374
JBrowse link
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NBAS NBAS subunit of NRZ tethering complex ISO OMIM NCBI chr17:11,091,536...11,410,284
Ensembl chr17:11,091,543...11,430,839
JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) RGD PMID:22022284 RGD:11532672 NCBI chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868, PMID:26467025 NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 9:51,337,205...51,345,284
Ensembl chr 9:51,337,187...51,362,422
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr 5:31,639,263...31,642,663
Ensembl chr 5:31,639,189...31,642,914
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr 5:31,613,335...31,635,313
Ensembl chr 5:31,613,398...31,633,736
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:17564970, PMID:19177532, PMID:19201763, PMID:21990111, PMID:25439737, PMID:28492532, PMID:30311386 NCBI chr19:12,905,336...13,030,901
Ensembl chr19:12,982,394...13,020,083
JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant ClinVar PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr27:38,526,968...38,534,585
Ensembl chr27:38,526,528...38,535,937
JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO OMIM NCBI chr27:38,518,978...38,526,361
Ensembl chr27:38,518,974...38,559,455
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5H17orf107 chromosome 5 C17orf107 homolog ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,705,484...31,706,675 JBrowse link
G CAMTA2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,632,064...31,657,537
Ensembl chr 5:31,631,838...31,657,792
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,696,710...31,707,639
Ensembl chr 5:31,696,993...31,708,671
JBrowse link
G ENO3 enolase 3 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,662,284...31,667,498
Ensembl chr 5:31,662,285...31,834,968
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,681,605...31,683,261 JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:28492532, PMID:28832565 NCBI chr 5:31,639,263...31,642,663
Ensembl chr 5:31,639,189...31,642,914
JBrowse link
G KIF1C kinesin family member 1C ISO OMIM NCBI chr 5:31,613,335...31,635,313
Ensembl chr 5:31,613,398...31,633,736
JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,670,483...31,671,891
Ensembl chr 5:31,670,194...31,671,895
JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,673,540...31,676,705
Ensembl chr 5:31,674,284...31,676,441
JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,676,826...31,680,138
Ensembl chr 5:31,675,740...31,679,933
JBrowse link
G SPAG7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr 5:31,657,633...31,661,635
Ensembl chr 5:31,657,699...31,661,420
JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARS2 methionyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr37:7,149,375...7,155,318
Ensembl chr37:7,149,418...7,152,418
JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471, PMID:21450511, PMID:24033266, PMID:24180463 NCBI chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTPAP mitochondrial poly(A) polymerase ISO OMIM NCBI chr 2:16,666,742...16,695,753
Ensembl chr 2:16,666,749...16,695,709
JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO OMIM NCBI chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472
JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX6-2 NK6 homeobox 2 ISO OMIM NCBI chr28:40,568,948...40,570,240
Ensembl chr28:40,569,093...40,570,793
JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHP1 calcineurin like EF-hand protein 1 ISO OMIM NCBI chr30:8,304,939...8,352,833
Ensembl chr30:8,305,007...8,350,904
JBrowse link
SPOAN syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLC2 kinesin light chain 2 ISO OMIM NCBI chr18:51,035,013...51,045,629
Ensembl chr18:51,035,705...51,045,595
JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB18 RAB18, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
CTD
ClinVar
NCBI chr 2:6,071,944...6,112,064
Ensembl chr 2:6,073,534...6,111,928
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IEA Polyneuropathy, RAB3GAP1-related OMIA PMID:9240838, PMID:9549867, PMID:9684979, PMID:9862062, PMID:9928831, PMID:20638305, PMID:26596647, PMID:26607784 NCBI chr19:37,861,844...38,006,433
Ensembl chr19:37,861,804...37,963,501
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
CTD
ClinVar
NCBI chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865
JBrowse link
G TBC1D20 TBC1 domain family member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:20,400,647...20,419,652
Ensembl chr24:20,400,791...20,419,655
JBrowse link
G ZRANB3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr19:38,003,273...38,302,598
Ensembl chr19:37,957,421...38,301,888
JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO OMIM NCBI chr19:37,861,844...38,006,433
Ensembl chr19:37,861,804...37,963,501
JBrowse link
G ZRANB3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar PMID:15696165, PMID:25741868, PMID:26138576, PMID:26467025, PMID:28492532, PMID:29300443 NCBI chr19:38,003,273...38,302,598
Ensembl chr19:37,957,421...38,301,888
JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO OMIM NCBI chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865
JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB18 RAB18, member RAS oncogene family ISO OMIM NCBI chr 2:6,071,944...6,112,064
Ensembl chr 2:6,073,534...6,111,928
JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D20 TBC1 domain family member 20 ISO OMIM NCBI chr24:20,400,647...20,419,652
Ensembl chr24:20,400,791...20,419,655
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
CTD
ClinVar
RGD
PMID:9771706, PMID:9817917, PMID:9856492, PMID:10521293, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11260218, PMID:11295831, PMID:11317350, PMID:12022290, PMID:12107816, PMID:12754709, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:16151413, PMID:17492394, PMID:17517145, PMID:17568405, PMID:17603484, PMID:18040659, PMID:18414213, PMID:18806274, PMID:19042979, PMID:19344068, PMID:19877185, PMID:20738327, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21446023, PMID:21538838, PMID:21602428, PMID:22226368, PMID:22238590, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23981289, PMID:23990876, PMID:24033266, PMID:24088041, PMID:24705017, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26025012, PMID:26435059, PMID:26467025, PMID:26633545, PMID:26875006, PMID:27185633, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044, PMID:30014265, PMID:30311386 RGD:1599813 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD2 CDGSH iron sulfur domain 2 ISO OMIM NCBI chr32:24,257,909...24,274,732
Ensembl chr32:24,257,994...24,274,064
JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr32:24,292,961...24,352,795
Ensembl chr32:24,272,035...24,352,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12675
    sensory system disease 4762
      eye disease 2450
        optic nerve disease 230
          Leber hereditary optic neuropathy + 26
          Optic Nerve Aplasia, Bilateral 0
          Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 1
          Optic Nerve Injuries 46
          Roifman-Chitayat Syndrome 0
          Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
          anterior ischemic optic neuropathy + 10
          bilateral optic nerve hypoplasia 0
          chiasmal syndrome 0
          low tension glaucoma 15
          optic atrophy + 126
          optic disk drusen + 4
          optic nerve neoplasm + 2
          optic neuritis + 37
          papilledema + 0
          pseudopapilledema 0
Path 2
Term Annotations click to browse term
  disease 12675
    disease of anatomical entity 12213
      nervous system disease 9961
        peripheral nervous system disease 2367
          neuropathy 2210
            cranial nerve disease 459
              optic nerve disease 230
                Leber hereditary optic neuropathy + 26
                Optic Nerve Aplasia, Bilateral 0
                Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 1
                Optic Nerve Injuries 46
                Roifman-Chitayat Syndrome 0
                Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
                anterior ischemic optic neuropathy + 10
                bilateral optic nerve hypoplasia 0
                chiasmal syndrome 0
                low tension glaucoma 15
                optic atrophy + 126
                optic disk drusen + 4
                optic nerve neoplasm + 2
                optic neuritis + 37
                papilledema + 0
                pseudopapilledema 0
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.