Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G ATP6 ATP synthase F0 subunit 6 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:28027978 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
G EDN1 endothelin 1 ISO human protein in a rat model RGD PMID:18442442 RGD:8661688 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:25356970 NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,749
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:8,959...9,162
Ensembl chr MT:8,959...9,162
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:3,922...4,876
Ensembl chr MT:3,922...4,876
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721955 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO OMIM NCBI chr 6:51,917,956...51,967,624 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 chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:24316388 RGD:11039419 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
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:3,922...4,876
Ensembl chr MT:3,922...4,876
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO DNA:snp:promoter:g.-786T>C (human) RGD PMID:16633797 RGD:7775040 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:11222789, PMID:14985266, PMID:16534102, PMID:17661097, PMID:18200586, PMID:18799786, PMID:19841671, PMID:20186691, PMID:20981092, PMID:21623769, PMID:22554690, PMID:22571692, PMID:22964162, PMID:23065789, PMID:23269439, PMID:23733235, PMID:23812641, PMID:24033266, PMID:24727571, PMID:24731568, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25681447, PMID:25714468, PMID:25741868, PMID:25976027, PMID:26094131, PMID:26260707, PMID:26374131, PMID:26467025, PMID:26506339, PMID:26626314, PMID:26671083, PMID:26756429, PMID:27016405, PMID:27084228, PMID:27165006, PMID:27181684, PMID:27217339, PMID:27260292, PMID:27957547, PMID:28362824, PMID:28492532, PMID:28608987, PMID:28832565, PMID:29026558, PMID:29057857, PMID:30311386, PMID:32581362 NCBI chr 6:414,930...439,206
Ensembl chr 6:414,930...439,212
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 chr12:6,372,224...6,382,769
Ensembl chr12:6,372,009...6,382,769
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 chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,569,910
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 chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,678...4,385,272
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 chr13:130,624,771...130,718,345
Ensembl chr13:130,624,823...130,719,083
JBrowse link
bilateral optic nerve hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX6 paired box 6 ISO OMIM NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
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 2:100,477,770...100,893,594
Ensembl chr 2:100,477,775...100,893,580
JBrowse link
G KIAA0825 KIAA0825 ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:100,935,165...101,291,983 JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 ISO OMIM NCBI chr 2:100,447,661...100,457,510
Ensembl chr 2:100,447,847...100,457,904
JBrowse link
G POU5F2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:100,602,508...100,624,006 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 6:49,905,851...49,927,437 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:88,074,861...88,101,925
Ensembl chr  X:88,074,963...88,119,094
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 chr11:2,382,406...2,455,756
Ensembl chr11:2,379,695...2,456,664
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 chr11:2,310,280...2,380,054 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 chr 1:246,548,461...246,760,527
Ensembl chr 1:246,548,497...246,760,515
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 chr18:19,979,983...19,996,432
Ensembl chr18:19,979,955...19,996,429
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386
G PRPF31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 6:55,995,087...56,011,507
Ensembl chr 6:55,995,089...56,011,430
JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:1862076, PMID:30311386 NCBI chr13:68,908,578...68,913,651
Ensembl chr13:68,908,578...68,913,651
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:82,978,128...82,981,038
Ensembl chr  X:82,974,270...82,980,769
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 chr13:130,624,771...130,718,345
Ensembl chr13:130,624,823...130,719,083
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 chr 3:85,407,677...85,473,251
Ensembl chr 3:85,268,311...85,473,254
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 chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142
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 6:86,094,383...86,131,691
Ensembl chr 6:85,891,364...86,131,682
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 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 chr15:46,193,498...46,197,989
Ensembl chr15:46,193,699...46,200,994
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 chr 2:58,753,363...58,803,356
Ensembl chr 2:58,753,371...58,801,832
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 chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,752...73,398,345
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:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160
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:11,359...12,736
Ensembl chr MT:11,359...12,736
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:14,739...15,266
Ensembl chr MT:14,739...15,266
JBrowse link
G TMEM126A transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic Atrophy, Recessive ClinVar NCBI chr 9:19,576,241...19,585,869
Ensembl chr 9:19,576,295...19,585,277
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 chr 5:7,014,383...7,071,023
Ensembl chr 5:7,002,124...7,070,999
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 chr 5:6,999,690...7,014,471
Ensembl chr 5:6,997,444...7,014,422
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 9:46,548,175...46,550,146 JBrowse link
G MFRP membrane frizzled-related protein ISO OMIM NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,548,175...46,556,077
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 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
JBrowse link
G ATP6 ATP synthase F0 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:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
G CYTB 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:15,342...16,481
Ensembl chr MT:15,342...16,481
JBrowse link
G EPHX1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,735,170...13,773,071
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:86,596,967...86,685,073
Ensembl chr 1:86,516,306...86,685,614
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670, PMID:17011878 NCBI chr 8:74,412,226...74,428,713
Ensembl chr 8:74,409,459...74,419,682
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:6,511...8,055
Ensembl chr MT:6,511...8,055
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:9,800...10,583
Ensembl chr MT:9,800...10,583
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
ClinVar Annotator: match by term: Leber Hereditary Optic Neuropathy
DNA:missense mutation:cds:p.L289M (m.4171C>A) (human)
DNA:transition:CDS:c.3460G>A, p.A52T
DNA:snp:cds:m.3394T>C (human)
DNA:snp:cds:m.3635G>A (human)
DNA:missense mutation:cds:m.3866T>C (p.I187T) (human)
DNA:snps:cds:m.4136A>G, m.4160T>C (human)
CTD
ClinVar
RGD
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:3,922...4,876
Ensembl chr MT:3,922...4,876
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA: mutation
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
RGD
ClinVar
PMID:12227465, PMID:17152068, PMID:17413873, PMID:19458970 RGD:5508703 NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:mutation: :m.11696G>A(human)
ClinVar Annotator: match by term: Leber's optic atrophy
DNA:mutation:exon: 11778G>A
DNA:mutation:exon:p.R340H(human)
DNA:transition:CDS:c.11778G>A (p.R340H) (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
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:11,359...12,736
Ensembl chr MT:11,359...12,736
JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Leber's optic atrophy
DNA:mutation: :m.13708G>A (human)
DNA:mutation:exon:13042G>A (A236T) (human)
DNA:mutation:: m.12338 T>C
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:p.Y159H(human)
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:12,935...14,755
Ensembl chr MT:12,935...14,755
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)
ClinVar Annotator: match by term: Leber's optic atrophy
DNA:mutation: :m.13997G>A (p.P25L) (mouse)
DNA:SNP, haplotypes: :m.14484T>C (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, haplotypes:cds:multiple
RGD
ClinVar
CTD
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:14,739...15,266
Ensembl chr MT:14,739...15,266
JBrowse link
G ND2 NADH dehydrogenase 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:5,087...6,128
Ensembl chr MT:5,087...6,128
JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
DNA:missense mutation:cds:m.10680G>A (p.A71T) (human)
DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)
CTD
ClinVar
RGD
PMID:8680405, PMID:11935318, PMID:19394449 RGD:5686339, RGD:5686341 NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:25741868 NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,261,687
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 chr13:121,758,734...121,813,679 JBrowse link
G RDH12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr 7:91,481,238...91,493,838
Ensembl chr 7:91,481,273...91,494,923
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753, PMID:17011878 NCBI chr 6:144,206,078...144,229,471
Ensembl chr 6:144,206,077...144,293,709
JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr 7:77,813,964...77,903,973
Ensembl chr 7:77,814,708...77,903,928
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:12601034, PMID:15293270 RGD:8158101, RGD:8158104 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TP53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G VCAN versican ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:30311386 NCBI chr 2:91,682,177...91,811,674
Ensembl chr 2:91,358,399...91,811,208
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:10,653...10,998
Ensembl chr MT:10,653...10,998
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 chr17:22,480,344...22,508,804
Ensembl chr17:22,480,340...22,511,180
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 chr14:124,400,330...124,401,739
Ensembl chr14:124,400,189...124,401,739
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G CAV1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CAV2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277
JBrowse link
G CRP C-reactive protein, pentraxin-related no_association ISO protein:increased expression:plasma: RGD PMID:16148587, PMID:22966842 RGD:9491770, RGD:9491771 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20858111 RGD:10402863 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G MYOC myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,374...114,098,743
JBrowse link
G OPTN optineurin susceptibility ISO DNA:SNPs:exon,introns:
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
DNA:polymorphism:exon:p.M98K(human)
RGD PMID:15226658, PMID:15557444, PMID:16148883 RGD:7771548, RGD:7775041, RGD:7775043 NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,844...48,582,910
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28703795 NCBI chr 1:217,366,493...217,441,643
Ensembl chr 1:217,366,499...217,441,674
JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:decreased expression:serum (human) RGD PMID:21421868 RGD:8655579 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G TLR4 toll like receptor 4 no_association
susceptibility
ISO DNA:polymorphisms:multiple:
DNA:polymorphism,haplotype:multiple:
RGD PMID:21921986, PMID:22831837 RGD:7794768, RGD:7794769 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TP53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
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 chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
JBrowse link
G CCL2 chemokine (C-C motif) 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 chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CLU clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G EPO erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G FGF2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
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 chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
JBrowse link
G GPR179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr12:23,730,887...23,748,272
Ensembl chr12:23,730,483...23,747,545
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 3:112,712,894...112,753,121
Ensembl chr 3:112,704,023...112,753,086
JBrowse link
G IL6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous: RGD PMID:22066978 RGD:7829760 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
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 chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G NDP norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:39,208,115...39,235,879
Ensembl chr  X:39,208,119...39,235,758
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 chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,823...130,719,083
JBrowse link
G ROM1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 2:9,125,377...9,127,615
Ensembl chr 2:9,125,381...9,127,617
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human)
associated with Diabetes Mellitus, Experimental; human protein in a rat model
RGD PMID:20714746, PMID:21139695 RGD:8554903, RGD:8655546 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,411
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:28492532, PMID:30311386 NCBI chr10:5,825,591...6,662,733 JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor
associated with retinal vein occlusion;protein:increased expression:vitreous humor
CTD
RGD
PMID:17505145, PMID:20577866, PMID:23411880 RGD:8549772, RGD:8655594 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
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 chr 8:135,431,965...135,495,124
Ensembl chr 8:135,420,884...135,495,121
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 associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD Direct Evidence: marker/mechanism
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 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G CD59 CD59 molecule severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr 2:27,186,587...27,207,303 JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,468,898
JBrowse link
G IL6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G MBP myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,568,673...147,685,288
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NEFH neurofilament heavy ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,569,910
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767
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 (peptidyl-dipeptidase A) 1 onset ISO DNA:insertion/deletion:intron RGD PMID:21633717 RGD:8548899 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (1691G>A) (human) RGD PMID:15043529 RGD:7394764 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
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 chr12:51,975,810...51,979,428
Ensembl chr12:51,975,874...51,977,757
JBrowse link
G ITGB3 integrin subunit beta 3 susceptibility ISO DNA:polymorphism: : RGD PMID:20162297 RGD:8693343 NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,505...16,752,292
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :677C>T(human) RGD PMID:20162297 RGD:8693343 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
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 chr 2:77,357,161...77,375,349
Ensembl chr 2:77,357,211...77,375,180
JBrowse link
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:7,014,383...7,071,023
Ensembl chr 5:7,002,124...7,070,999
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 6:97,200,890...97,234,577 JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,519...106,708,317
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 chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,401...37,255,811
JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr15:33,370,093...33,465,852 JBrowse link
G ATP6 ATP synthase F0 subunit 6 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 4:93,733,967...93,753,340
Ensembl chr 4:93,733,917...93,753,340
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 chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414
JBrowse link
G CYRIA CYFIP related Rac1 interactor A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 3:120,968,016...121,069,372
Ensembl chr 3:120,968,060...121,069,242
JBrowse link
G DDX1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 3:121,818,400...121,856,667
Ensembl chr 3:121,818,406...121,853,958
JBrowse link
G DNM1L dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr 5:41,571,054...41,636,058 JBrowse link
G GBA glucosylceramidase beta ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,196...94,609,745
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,900...53,251,559
JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,358...47,601,379
JBrowse link
G LOC100523747 phospholipid-transporting ATPase IB ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr11:3,277,395...3,793,881
Ensembl chr11:3,278,071...3,793,881
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 6:86,094,383...86,131,691
Ensembl chr 6:85,891,364...86,131,682
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:6,511...8,055
Ensembl chr MT:6,511...8,055
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,542,275...121,549,491
JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr12:60,533,502...60,582,645 JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 2:15,031,147...15,036,880
Ensembl chr 2:15,031,149...15,036,880
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 6:70,271,296...70,307,403
Ensembl chr 6:70,272,030...70,310,603
JBrowse link
G OAT ornithine aminotransferase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:30311386 NCBI chr14:133,808,193...133,830,517 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 chr13:130,624,771...130,718,345
Ensembl chr13:130,624,823...130,719,083
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
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 6:54,870,359...54,880,814
Ensembl chr 6:54,870,361...54,880,807
JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 5:6,999,690...7,014,471
Ensembl chr 5:6,997,444...7,014,422
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,272...106,723,413
JBrowse link
G SLBP stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 8:802,940...818,161
Ensembl chr 8:802,940...826,192
JBrowse link
G SLC25A46 solute carrier family 25 member 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168012 NCBI chr 2:115,529,662...115,555,441 JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 3:46,929,066...46,960,420
Ensembl chr 3:46,929,194...46,960,961
JBrowse link
G TBCD tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr12:327,009...449,375
Ensembl chr12:327,013...449,557
JBrowse link
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 5:28,880,210...28,929,964
Ensembl chr 5:28,828,568...28,929,964
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 chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,678...4,385,272
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 chr13:130,624,771...130,718,345
Ensembl chr13:130,624,823...130,719,083
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chr 6:51,917,956...51,967,624 JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,678...4,385,272
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 chr 1:72,763,453...72,816,450
Ensembl chr 1:72,762,840...72,815,540
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 chr10:48,807,654...48,855,228 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 6:97,200,890...97,234,577 JBrowse link
optic atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO OMIM NCBI chr 6:51,917,956...51,967,624 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 chr 5:41,571,054...41,636,058 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 chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818
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 chr 9:19,576,241...19,585,869
Ensembl chr 9:19,576,295...19,585,277
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 chr 5:7,014,383...7,071,023
Ensembl chr 5:7,002,124...7,070,999
JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:25351951 NCBI chr 5:6,999,690...7,014,471
Ensembl chr 5:6,997,444...7,014,422
JBrowse link
Optic Nerve Aplasia, Bilateral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Optic nerve aplasia, bilateral ClinVar PMID:12721955 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
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 chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
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 chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
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 chr13:119,668,476...119,669,435 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 chr17:52,316,388...52,350,732
Ensembl chr17:52,317,669...52,350,757
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20216911 RGD:2326035 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G AQP9 aquaporin 9 ISO RGD PMID:20216911 RGD:2326035 NCBI chr 1:113,798,380...113,848,452
Ensembl chr 1:113,765,680...113,848,685
JBrowse link
G ARG2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chr 7:91,343,987...91,385,911
Ensembl chr 7:91,343,987...91,385,911
JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:10366744 RGD:10047417 NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,984,977...81,091,532
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:9520478, PMID:11050383, PMID:15140649 RGD:8655584, RGD:8655586, RGD:8655637 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G C3 complement C3 ISO mRNA:increased expression:optic nerve RGD PMID:14577867 RGD:5129542 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CDK2 cyclin dependent kinase 2 ISO mRNA:increased expression:retina RGD PMID:16723461 RGD:2293567 NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,763...21,392,726
JBrowse link
G CFL1 cofilin 1 treatment ISO RGD PMID:27443501 RGD:11568693 NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035
JBrowse link
G CLU clusterin ISO RGD PMID:14577867 RGD:5129542 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:20144610 RGD:11039471 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CTSB cathepsin B ISO protein:increased expression:retina (rat) RGD PMID:18775855 RGD:2315508 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,034,737
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EDNRA endothelin receptor type A ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
JBrowse link
G EDNRB endothelin receptor type B ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
JBrowse link
G EP300 E1A binding protein p300 ISO human gene in rat model
protein:decreased expression:retinal ganglion cell layer (rat)
RGD PMID:21705428 RGD:7349392 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:14664816 RGD:8554854 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:15144875 RGD:6218970 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO RGD PMID:15144875 RGD:6218970 NCBI chr14:126,273,558...126,499,957
Ensembl chr14:126,277,857...126,499,465
JBrowse link
G GFRA2 GDNF family receptor alpha 2 ISO RGD PMID:15144875 RGD:6218970 NCBI chr14:5,743,583...5,837,470
Ensembl chr14:5,743,582...5,837,445
JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:21443522 RGD:8548549 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
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 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:10366744 RGD:10047417 NCBI chr 6:153,686,425...153,687,635 JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:20216911 RGD:2326035 NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,407
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO mRNA:increased expression:retina RGD PMID:12076086 RGD:8662362 NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28032230 RGD:13781885 NCBI chr 9:106,119,896...106,162,126
Ensembl chr 9:106,119,899...106,294,587
JBrowse link
G NEFM neurofilament medium ISO RGD PMID:8501527 RGD:9743936 NCBI chr14:8,955,346...8,967,211 JBrowse link
G NEO1 neogenin 1 ISO protein:increased expression:retina RGD PMID:21887516 RGD:9850142 NCBI chr 7:60,064,984...60,299,892
Ensembl chr 7:60,064,994...60,300,562
JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:20943663 RGD:5508695 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,357
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:20943663 RGD:5508695 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,237,930
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20357199 RGD:5684908 NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,379...30,429,882
JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA:increased expression:retina: RGD PMID:12836167 RGD:1299297 NCBI chr 5:101,693,145...101,797,842
Ensembl chr 5:101,692,143...101,797,835
JBrowse link
G PAX6 paired box 6 ISO protein:increased expression:retina (rat) RGD PMID:23297010 RGD:8552379 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:decreased expression:nerve fiber: RGD PMID:9893812 RGD:10449496 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:optic nerve (rat) RGD PMID:22336118 RGD:6767293 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PLAU plasminogen activator, urokinase ISO mRNA:increased expression:optic nerve (rat) RGD PMID:20798533 RGD:6483802 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 ISO protein:increased expression:retina (rat) RGD PMID:15555919 RGD:9835027 NCBI chr 2:40,458,865...40,521,470
Ensembl chr 2:40,458,903...40,523,363
JBrowse link
G RHOA ras homolog family member A ISO protein:increased expression, altered localization:retina RGD PMID:17534117 RGD:1642826 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,836...32,003,722
JBrowse link
G SNW1 SNW domain containing 1 ISO protein:increased expression:retina (rat) RGD PMID:25074585 RGD:11035254 NCBI chr 7:100,718,298...100,749,414
Ensembl chr 7:100,718,036...100,749,356
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:optic nerve RGD PMID:23103505 RGD:7794777 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:14697498, PMID:18552980 RGD:7794683, RGD:8661743 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G TRADD TNFRSF1A associated via death domain ISO protein:increased expression: retina RGD PMID:18552980 RGD:7794683 NCBI chr 6:27,797,594...27,804,654
Ensembl chr 6:27,797,607...27,804,423
JBrowse link
G YBX3 Y-box binding protein 3 ISO mRNA:increased expression:retinal ganglion cell RGD PMID:11750989 RGD:2311250 NCBI chr 5:61,337,868...61,361,269
Ensembl chr 5:61,337,863...61,361,280
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 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G CAPN1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23860028 NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,516...7,081,432
JBrowse link
G CAT catalase treatment ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:18055782 RGD:9068881 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 ISO RGD PMID:11966770 RGD:8551840 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
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 chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,337
JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO RGD PMID:22157536, PMID:23860028 RGD:9685553, RGD:9685554 NCBI chr 7:22,595,565...22,606,137
Ensembl chr 7:22,595,508...22,612,761
JBrowse link
G NEFH neurofilament heavy severity ISO protein:increased expression:serum: RGD PMID:15258226, PMID:29085182 RGD:27226813, RGD:27226814 NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,569,910
JBrowse link
G SOD2 superoxide dismutase 2 ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:17251466 RGD:8158052 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
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 chr 3:85,811,043...85,971,162
Ensembl chr 3:85,811,106...85,941,868
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
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 chr15:139,610,624...139,694,841
Ensembl chr15:139,610,626...139,694,826
JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 ISO OMIM NCBI chr12:38,013,931...38,027,928
Ensembl chr12:38,013,967...38,027,923
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 chr14:55,816,663...55,901,215 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 chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,339
JBrowse link
G C5H12orf29 chromosome 5 C12orf29 homolog ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr 5:94,473,172...94,489,643
Ensembl chr 5:94,473,172...94,489,661
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
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 chr13:138,689,544...138,741,228
Ensembl chr13:138,681,740...138,741,373
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 chr 3:46,316,864...46,378,279
Ensembl chr 3:46,281,570...46,377,273
JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:28492532 NCBI chr 6:66,815,282...66,928,245
Ensembl chr 6:66,815,281...66,928,146
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr10:16,191,178...16,441,828
Ensembl chr10:16,191,156...16,441,819
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 chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491
JBrowse link
G WDR19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703
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 chr 3:46,316,864...46,378,279
Ensembl chr 3:46,281,570...46,377,273
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 chr13:73,843,770...73,901,020 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 6:66,815,282...66,928,245
Ensembl chr 6:66,815,281...66,928,146
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 chr13:138,689,544...138,741,228
Ensembl chr13:138,681,740...138,741,373
JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5H12orf29 chromosome 5 C12orf29 homolog ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr 5:94,473,172...94,489,643
Ensembl chr 5:94,473,172...94,489,661
JBrowse link
G CEP290 centrosomal protein 290 ISO OMIM NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
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 chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,339
JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr10:16,068,544...16,191,277
Ensembl chr10:16,068,539...16,191,137
JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr10:15,420,600...15,723,890
Ensembl chr10:15,419,652...15,723,241
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO OMIM NCBI chr10:16,191,178...16,441,828
Ensembl chr10:16,191,156...16,441,819
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 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703
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 chr15:137,863,612...137,912,325
Ensembl chr15:137,863,609...137,912,477
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 chr 3:121,882,734...122,242,325
Ensembl chr 3:121,882,743...122,242,327
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 6:97,200,890...97,234,577 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 chr 2:65,491,784...65,871,068 JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 1:272,763,203...272,770,259
Ensembl chr 1:272,763,226...272,770,255
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,370,184...142,401,209
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr12:51,923,764...51,931,875 JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,396...80,106,258
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr12:51,899,762...51,924,465
Ensembl chr12:51,897,763...51,924,437
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 chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,080...96,971,339
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:11222789, PMID:14985266, PMID:16534102, PMID:17661097, PMID:18200586, PMID:18799786, PMID:19841671, PMID:20186691, PMID:20981092, PMID:21623769, PMID:22554690, PMID:22571692, PMID:22964162, PMID:23065789, PMID:23269439, PMID:23733235, PMID:23812641, PMID:24033266, PMID:24727571, PMID:24731568, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25681447, PMID:25714468, PMID:25741868, PMID:25976027, PMID:26094131, PMID:26260707, PMID:26374131, PMID:26467025, PMID:26506339, PMID:26626314, PMID:26671083, PMID:26756429, PMID:27016405, PMID:27084228, PMID:27165006, PMID:27181684, PMID:27217339, PMID:27260292, PMID:27957547, PMID:28362824, PMID:28492532, PMID:28608987, PMID:28832565, PMID:29026558, PMID:29057857, PMID:30311386, PMID:32581362 NCBI chr 6:414,930...439,206
Ensembl chr 6:414,930...439,212
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 chr 5:64,188,184...64,197,033
Ensembl chr 5:64,188,187...64,202,324
JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO OMIM NCBI chr 5:64,181,496...64,188,275 JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMTA2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr12:51,931,794...51,948,703
Ensembl chr12:51,931,802...51,953,585
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr12:51,999,504...52,016,592
Ensembl chr12:52,011,250...52,016,301
JBrowse link
G ENO3 enolase 3 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr12:51,954,614...51,959,991
Ensembl chr12:51,954,614...51,963,223
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr12:51,975,810...51,979,428
Ensembl chr12:51,975,874...51,977,757
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 chr12:51,923,764...51,931,875 JBrowse link
G KIF1C kinesin family member 1C ISO OMIM NCBI chr12:51,899,762...51,924,465
Ensembl chr12:51,897,763...51,924,437
JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,696...51,973,660
JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr12:51,966,028...51,970,811 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 chr12:51,970,794...51,973,668
Ensembl chr12:51,970,805...51,975,548
JBrowse link
G SPAG7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr12:51,948,788...51,953,587 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 chr15:101,508,668...101,524,076
Ensembl chr15:101,510,594...101,524,074
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 chr11:2,382,406...2,455,756
Ensembl chr11:2,379,695...2,456,664
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 chr10:40,764,098...40,869,608
Ensembl chr10:40,764,362...40,872,854
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 6:97,200,890...97,234,577 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 chr14:140,895,622...140,899,114
Ensembl chr14:140,897,642...140,899,115
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 chr 1:130,073,919...130,112,461
Ensembl chr 1:130,073,919...130,112,753
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 chr 2:6,117,236...6,127,048
Ensembl chr 2:6,102,353...6,126,951
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 chr10:38,970,381...39,004,975
Ensembl chr10:38,970,556...39,004,971
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
CTD
ClinVar
PMID:25741868, PMID:26467025 NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,753,877...16,816,754
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 chr10:9,734,766...9,828,330
Ensembl chr10:9,734,767...9,828,345
JBrowse link
G TBC1D20 TBC1 domain family member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:34,760,379...34,778,301
Ensembl chr17:34,760,379...34,779,251
JBrowse link
G ZRANB3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr15:16,414,291...16,727,659
Ensembl chr15:16,414,757...16,727,842
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 chr15:16,756,368...16,893,148
Ensembl chr15:16,753,877...16,816,754
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 chr15:16,414,291...16,727,659
Ensembl chr15:16,414,757...16,727,842
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 chr10:9,734,766...9,828,330
Ensembl chr10:9,734,767...9,828,345
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 chr10:38,970,381...39,004,975
Ensembl chr10:38,970,556...39,004,971
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 chr17:34,760,379...34,778,301
Ensembl chr17:34,760,379...34,779,251
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:3,922...4,876
Ensembl chr MT:3,922...4,876
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 chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,678...4,385,272
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 chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,678...4,385,272
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 chr 8:118,152,580...118,164,695
Ensembl chr 8:118,151,957...118,164,643
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 chr 8:118,052,091...118,134,685
Ensembl chr 8:118,052,490...118,155,396
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12615
    sensory system disease 4728
      eye disease 2437
        optic nerve disease 228
          Leber hereditary optic neuropathy + 26
          Optic Nerve Aplasia, Bilateral 1
          Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 1
          Optic Nerve Injuries 45
          Roifman-Chitayat Syndrome 0
          Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
          anterior ischemic optic neuropathy + 10
          bilateral optic nerve hypoplasia 1
          chiasmal syndrome 0
          low tension glaucoma 15
          optic atrophy + 127
          optic disk drusen + 4
          optic nerve neoplasm + 2
          optic neuritis + 35
          papilledema + 0
          pseudopapilledema 0
Path 2
Term Annotations click to browse term
  disease 12615
    disease of anatomical entity 12148
      nervous system disease 9901
        peripheral nervous system disease 2357
          neuropathy 2202
            cranial nerve disease 457
              optic nerve disease 228
                Leber hereditary optic neuropathy + 26
                Optic Nerve Aplasia, Bilateral 1
                Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 1
                Optic Nerve Injuries 45
                Roifman-Chitayat Syndrome 0
                Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
                anterior ischemic optic neuropathy + 10
                bilateral optic nerve hypoplasia 1
                chiasmal syndrome 0
                low tension glaucoma 15
                optic atrophy + 127
                optic disk drusen + 4
                optic nerve neoplasm + 2
                optic neuritis + 35
                papilledema + 0
                pseudopapilledema 0
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.