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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 chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G EDN1 endothelin 1 ISO human protein in a rat model RGD PMID:18442442 RGD:8661688 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:25356970 NCBI chr16:56,196,867...56,216,909
Ensembl chr16:75,545,002...75,565,043
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721955 NCBI chr11:31,753,190...31,782,225 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 chr19:42,477,467...42,546,814
Ensembl chr19:51,073,322...51,130,555
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 chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:24316388 RGD:11039419 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15980766 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO DNA:snp:promoter:g.-786T>C (human) RGD PMID:16633797 RGD:7775040 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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 chr17:68,808,123...68,818,642
Ensembl chr17:74,364,343...74,374,852
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 chr22:10,525,738...10,536,788 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 Ensembl chr 4:6,345,864...6,379,287 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 chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
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 chr11:31,753,190...31,782,225 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 5:21,256,767...21,749,797
Ensembl chr 5:21,431,125...21,761,210
JBrowse link
G KIAA0825 KIAA0825 ortholog ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 5:20,755,995...21,216,208 JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 ISO OMIM NCBI chr 5:21,773,283...21,785,746
Ensembl chr 5:21,910,463...21,918,776
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 5:21,624,172...21,627,395
Ensembl chr 5:21,763,211...21,764,197
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 chr19:38,854,243...38,882,034 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:96,720,988...96,743,594
Ensembl chr  X:107,094,898...107,117,117
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 chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
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 chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350
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 9:76,417,869...76,612,233
Ensembl chr 9:104,597,755...104,737,620
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 chr 7:120,382,719...120,400,417
Ensembl chr 7:133,036,328...133,053,580
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731
JBrowse link
G PRPF31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr19:51,048,133...51,064,394
Ensembl chr19:59,891,070...59,907,159
JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:1862076, PMID:30311386 NCBI chr 3:126,586,510...126,593,028
Ensembl chr 3:133,938,419...133,944,928
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:90,548,212...90,551,534
Ensembl chr  X:100,680,224...100,683,544
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 chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
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 chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500
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 6:42,284,818...42,316,150
Ensembl chr 6:43,582,317...43,608,011
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 1:28,463,466...28,501,518
Ensembl chr 1:29,490,318...29,527,704
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 chr19:9,860,316...9,866,442 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 chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549
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 chr19:18,501,567...18,550,368
Ensembl chr19:19,504,325...19,553,158
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 chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454
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:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570
JBrowse link
G TMEM126A transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic Atrophy, Recessive ClinVar NCBI chr11:80,703,855...80,712,459
Ensembl chr11:84,312,434...84,321,037
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 chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200
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 chr22:22,419,887...22,438,539
Ensembl chr22:40,507,026...40,525,927
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 chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774
JBrowse link
G MFRP membrane frizzled-related protein ISO OMIM NCBI chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050
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 chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
JBrowse link
G EPHX1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:77,366,248...77,418,718
Ensembl chr 6:80,636,181...80,688,609
JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670, PMID:17011878 NCBI chr 4:147,110,568...147,119,706
Ensembl chr 4:158,928,607...158,937,747
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 1:136,609,822...136,626,851
Ensembl chr 1:140,526,690...140,538,705
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 chr 3:180,862,434...180,921,197
Ensembl chr 3:189,032,816...189,088,036
JBrowse link
G RDH12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr14:48,297,854...48,314,502
Ensembl chr14:67,180,696...67,192,345
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753, PMID:17011878 NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904
JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:12601034, PMID:15293270 RGD:8158101, RGD:8158104 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TP53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G VCAN versican ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:30311386 NCBI chr 5:31,699,278...31,810,169
Ensembl chr 5:32,019,709...32,130,351
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 chr20:13,751,315...13,788,024
Ensembl chr20:13,735,798...13,768,671
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 chr10:110,642,491...110,646,595 JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G CAV1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CAV2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 7:108,254,074...108,480,716
Ensembl chr 7:121,168,579...121,177,415
JBrowse link
G CRP C-reactive protein no_association ISO protein:increased expression:plasma: RGD PMID:16148587, PMID:22966842 RGD:9491770, RGD:9491771 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20858111 RGD:10402863 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
JBrowse link
G MYOC myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chr 1:147,128,541...147,146,227
Ensembl chr 1:150,841,630...150,858,628
JBrowse link
G OPTN optineurin susceptibility ISO DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
DNA:polymorphism:exon:p.M98K(human)
DNA:SNPs:exon,introns:
RGD PMID:15226658, PMID:15557444, PMID:16148883 RGD:7771548, RGD:7775041, RGD:7775043 NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28703795 NCBI chr 9:4,323,124...4,420,193
Ensembl chr 9:4,511,491...4,608,337
JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:decreased expression:serum (human) RGD PMID:21421868 RGD:8655579 NCBI chr21:18,029,831...18,037,526 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 chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TP53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CLU clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G EPO erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
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 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
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 chr13:9,584,850...9,779,542 JBrowse link
G GPR179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr17:18,928,680...18,949,014
Ensembl chr17:19,244,393...19,262,707
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
JBrowse link
G IL6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous: RGD PMID:22066978 RGD:7829760 NCBI chr 7:23,415,922...23,420,767 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 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G NDP norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:36,399,868...36,424,953
Ensembl chr  X:44,224,161...44,249,067
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 chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
JBrowse link
G ROM1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr11:57,970,290...57,972,658
Ensembl chr11:61,324,900...61,327,278
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 chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216
JBrowse link
G VEGFA vascular endothelial growth factor A ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor
associated with retinal vein occlusion;protein:increased expression:vitreous humor
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17505145, PMID:20577866, PMID:23411880 RGD:8549772, RGD:8655594 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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 4:41,312,389...41,384,924
Ensembl chr 4:47,173,348...47,235,812
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)
associated withHiccup;
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 chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G CD59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr11:33,680,580...33,708,479 JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961
JBrowse link
G IL6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 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 chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MBP myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:70,369,882...70,526,693 JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NEFH neurofilament heavy ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr22:10,525,738...10,536,788 JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr21:33,063,845...33,070,073 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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (1691G>A) (human) RGD PMID:15043529 RGD:7394764 NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
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 chr17:4,980,083...4,983,219 JBrowse link
G ITGB3 integrin subunit beta 3 susceptibility ISO DNA:polymorphism: : RGD PMID:20162297 RGD:8693343 NCBI chr17:10,134,450...10,194,596 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :677C>T(human) RGD PMID:20162297 RGD:8693343 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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 chr19:62,811...77,897
Ensembl chr19:1,018,095...1,042,104
JBrowse link
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200
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 chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
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 chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637
JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 8:5,381,357...5,541,094
Ensembl chr 8:1,724,413...1,862,917
JBrowse link
G ATP8A2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr13:6,663,888...7,319,094
Ensembl chr13:25,111,653...25,662,668
JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 1:131,652,058...131,679,802
Ensembl chr 1:135,481,427...135,508,983
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 1:172,794,523...173,076,045
Ensembl chr 1:177,174,431...177,422,867
JBrowse link
G CYRIA CYFIP related Rac1 interactor A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr2A:16,532,230...16,642,397
Ensembl chr2A:16,660,469...16,728,797
JBrowse link
G DDX1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr2A:15,582,499...15,619,751
Ensembl chr2A:15,716,044...15,753,623
JBrowse link
G DNM1L dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065
JBrowse link
G LOC100971960 unconventional myosin-XV ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr17:32,661,499...32,723,320 JBrowse link
G LOC100989340 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr2A:94,961,024...95,029,437 JBrowse link
G LOC100995589 uncharacterized LOC100995589 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr2A:15,923,366...15,926,680 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 1:28,463,466...28,501,518
Ensembl chr 1:29,490,318...29,527,704
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr2A:15,925,130...15,931,605 JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr11:47,528,680...47,534,206
Ensembl chr11:48,078,332...48,083,863
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 1:8,712,798...8,753,027
Ensembl chr 1:9,942,491...9,982,364
JBrowse link
G OAT ornithine aminotransferase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:30311386 NCBI chr10:120,955,805...120,977,484
Ensembl chr10:125,224,032...125,245,504
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 chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928
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 chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr22:22,419,887...22,438,539
Ensembl chr22:40,507,026...40,525,927
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214
JBrowse link
G SLBP stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 4:1,830,247...1,849,890
Ensembl chr 4:1,744,616...1,763,796
JBrowse link
G SLC25A46 solute carrier family 25 member 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168012 NCBI chr 5:106,106,112...106,132,355
Ensembl chr 5:111,908,842...111,935,029
JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr2A:103,010,083...103,040,958
Ensembl chr2A:97,197,137...97,228,511
JBrowse link
G TBCD tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr17:77,170,966...77,371,078
Ensembl chr17:82,971,613...83,158,223
JBrowse link
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr12:24,419,271...24,469,164
Ensembl chr12:24,917,246...24,968,587
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 Ensembl chr 4:6,345,864...6,379,287 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 chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chr19:42,477,467...42,546,814
Ensembl chr19:51,073,322...51,130,555
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 Ensembl chr 4:6,345,864...6,379,287 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 6:104,368,222...104,444,583
Ensembl chr 6:108,258,745...108,315,214
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 chr10:27,220,951...27,263,841
Ensembl chr10:27,584,099...27,626,453
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 chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
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 chr19:42,477,467...42,546,814
Ensembl chr19:51,073,322...51,130,555
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 chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
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 chr12:53,463,086...53,493,352
Ensembl chr12:56,065,505...56,076,026
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 chr11:80,703,855...80,712,459
Ensembl chr11:84,312,434...84,321,037
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 chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200
JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:25351951 NCBI chr22:22,419,887...22,438,539
Ensembl chr22:40,507,026...40,525,927
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 chr11:31,753,190...31,782,225 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 chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
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 chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
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 chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
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 chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387
JBrowse link
G AMIGO3 adhesion molecule with Ig like domain 3 treatment ISO RGD PMID:23613963 RGD:14390159 NCBI chr 3:49,648,967...49,652,285
Ensembl chr 3:50,885,925...50,887,439
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20216911 RGD:2326035 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G AQP9 aquaporin 9 ISO RGD PMID:20216911 RGD:2326035 NCBI chr15:37,107,061...37,154,887
Ensembl chr15:55,418,767...55,466,541
JBrowse link
G ARG2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chr14:48,197,831...48,231,829
Ensembl chr14:67,075,941...67,109,962
JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:10366744 RGD:10047417 NCBI chr2B:62,348,245...62,444,428
Ensembl chr2B:179,799,365...179,895,007
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:9520478, PMID:11050383, PMID:15140649 RGD:8655584, RGD:8655586, RGD:8655637 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G C3 complement C3 ISO mRNA:increased expression:optic nerve RGD PMID:14577867 RGD:5129542 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CDK2 cyclin dependent kinase 2 ISO mRNA:increased expression:retina RGD PMID:16723461 RGD:2293567 NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945
JBrowse link
G CFL1 cofilin 1 treatment ISO RGD PMID:27443501 RGD:11568693 NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806
JBrowse link
G CLU clusterin ISO RGD PMID:14577867 RGD:5129542 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:20144610 RGD:11039471 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G CTSB cathepsin B ISO protein:increased expression:retina (rat) RGD PMID:18775855 RGD:2315508 NCBI chr 8:7,333,498...7,359,264 JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G EDNRA endothelin receptor type A ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497
JBrowse link
G EDNRB endothelin receptor type B ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286
JBrowse link
G EP300 E1A binding protein p300 ISO protein:decreased expression:retinal ganglion cell layer (rat)
human gene in rat model
RGD PMID:21705428 RGD:7349392 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:14664816 RGD:8554854 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:15144875 RGD:6218970 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO RGD PMID:15144875 RGD:6218970 NCBI chr10:112,645,574...112,862,413
Ensembl chr10:116,079,063...116,295,164
JBrowse link
G GFRA2 GDNF family receptor alpha 2 ISO RGD PMID:15144875 RGD:6218970 NCBI chr 8:20,935,512...21,033,571
Ensembl chr 8:17,878,102...17,974,457
JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:21443522 RGD:8548549 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein: altered activity: eye
protein:increased expression:retina:
RGD PMID:19484445, PMID:23648097 RGD:10046025, RGD:5686431 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:10366744 RGD:10047417 NCBI chr 1:58,042,794...58,045,536 JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:20216911 RGD:2326035 NCBI chr 1:135,391,321...135,424,100 JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28032230 RGD:13781885 NCBI chr 7:98,227,071...98,262,254 JBrowse link
G NEFM neurofilament medium ISO RGD PMID:8501527 RGD:9743936 NCBI chr 8:24,181,335...24,186,701
Ensembl chr 8:21,098,005...21,107,468
JBrowse link
G NEO1 neogenin 1 ISO protein:increased expression:retina RGD PMID:21887516 RGD:9850142 NCBI chr15:51,968,238...52,221,116
Ensembl chr15:70,789,035...70,977,178
JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:20943663 RGD:5508695 NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20357199 RGD:5684908 NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678
JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA:increased expression:retina: RGD PMID:12836167 RGD:1299297 NCBI chr12:77,114,282...77,224,116
Ensembl chr12:79,969,517...80,070,796
JBrowse link
G PAX6 paired box 6 ISO protein:increased expression:retina (rat) RGD PMID:23297010 RGD:8552379 NCBI chr11:31,753,190...31,782,225 JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:decreased expression:nerve fiber: RGD PMID:9893812 RGD:10449496 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:optic nerve (rat) RGD PMID:22336118 RGD:6767293 NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
JBrowse link
G PLAU plasminogen activator, urokinase ISO mRNA:increased expression:optic nerve (rat) RGD PMID:20798533 RGD:6483802 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 ISO protein:increased expression:retina (rat) RGD PMID:15555919 RGD:9835027 NCBI chr11:18,758,285...18,822,845
Ensembl chr11:18,673,366...18,711,885
JBrowse link
G RHOA ras homolog family member A ISO protein:increased expression, altered localization:retina RGD PMID:17534117 RGD:1642826 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G SNW1 SNW domain containing 1 ISO protein:increased expression:retina (rat) RGD PMID:25074585 RGD:11035254 NCBI chr14:58,271,830...58,315,773
Ensembl chr14:77,472,387...77,517,315
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:optic nerve RGD PMID:23103505 RGD:7794777 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:14697498, PMID:18552980 RGD:7794683, RGD:8661743 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TRADD TNFRSF1A associated via death domain ISO protein:increased expression: retina RGD PMID:18552980 RGD:7794683 NCBI chr16:47,499,881...47,506,220
Ensembl chr16:66,889,006...66,891,016
JBrowse link
G YBX3 Y-box binding protein 3 ISO mRNA:increased expression:retinal ganglion cell RGD PMID:11750989 RGD:2311250 NCBI chr12:10,728,049...10,752,267
Ensembl chr12:10,996,380...11,018,172
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 chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G CAPN1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23860028 NCBI chr11:60,545,837...60,576,631
Ensembl chr11:63,886,015...63,916,021
JBrowse link
G CAT catalase treatment ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:18055782 RGD:9068881 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:11966770 RGD:8551840 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
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 chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO DNA:deletion, haplotype:cds (human) RGD PMID:19286687 RGD:5148007 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:9006417 RGD:7483596 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO RGD PMID:22157536, PMID:23860028 RGD:9685553, RGD:9685554 NCBI chr 6:29,461,174...29,476,362
Ensembl chr 6:30,119,599...30,134,152
JBrowse link
G NEFH neurofilament heavy severity ISO protein:increased expression:serum: RGD PMID:15258226, PMID:29085182 RGD:27226813, RGD:27226814 NCBI chr22:10,525,738...10,536,788 JBrowse link
G SOD2 superoxide dismutase 2 ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:17251466 RGD:8158052 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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 chr2A:55,445,060...55,576,479
Ensembl chr2A:56,589,221...56,715,362
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr12:99,986,887...100,066,773 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 chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326
JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 ISO OMIM NCBI chr17:20,583,614...20,595,332
Ensembl chr17:20,878,333...20,889,078
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 1:210,881,078...211,008,686 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 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
JBrowse link
G C12H12orf29 chromosome 12 C12orf29 homolog ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868, PMID:28492532 NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
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 chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242
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 chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205
JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:28492532 NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132
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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
JBrowse link
G WDR19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903
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 chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205
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 chr 3:129,753,399...129,795,300 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 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864
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 chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242
JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12H12orf29 chromosome 12 C12orf29 homolog ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291
JBrowse link
G CEP290 centrosomal protein 290 ISO OMIM NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
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 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:218,726,142...218,856,585
Ensembl chr 1:224,107,145...224,238,813
JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:217,640,005...218,081,158 JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO OMIM NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132
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 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903
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 chr2B:125,558,537...125,637,733
Ensembl chr2B:244,405,992...244,481,785
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 chr2A:15,159,193...15,552,121
Ensembl chr2A:15,293,512...15,685,820
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 chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
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 chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 9:104,180,310...104,191,434 JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr17:5,036,659...5,046,146
Ensembl chr17:5,024,740...5,034,216
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:73,391,297...74,158,488
Ensembl chr10:76,062,047...76,820,644
JBrowse link
G KIF1C kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
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 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
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 chr12:6,582,266...6,592,762
Ensembl chr12:6,499,429...6,509,844
JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO OMIM NCBI chr12:6,592,688...6,601,317
Ensembl chr12:6,509,762...6,518,459
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17H17orf107 chromosome 17 C17orf107 homolog ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,945,885...4,947,235
Ensembl chr17:4,934,173...4,935,528
JBrowse link
G CAMTA2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:5,016,065...5,036,216
Ensembl chr17:5,004,607...5,024,238
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,944,046...4,950,288
Ensembl chr17:4,932,862...4,937,963
JBrowse link
G ENO3 enolase 3 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,997,052...5,005,221
Ensembl chr17:4,986,116...4,992,876
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,980,083...4,983,219 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 chr17:5,036,659...5,046,146
Ensembl chr17:5,024,740...5,034,216
JBrowse link
G KIF1C kinesin family member 1C ISO OMIM NCBI chr17:5,046,488...5,073,220
Ensembl chr17:5,035,014...5,061,957
JBrowse link
G PFN1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,993,853...4,996,811 JBrowse link
G RNF167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,988,275...4,993,423
Ensembl chr17:4,975,849...4,981,335
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 chr17:4,985,477...4,988,348
Ensembl chr17:4,973,000...4,975,878
JBrowse link
G SPAG7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:5,007,303...5,016,018
Ensembl chr17:4,994,957...5,003,894
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 chr2B:84,954,833...84,957,871
Ensembl chr2B:202,847,478...202,849,259
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 chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
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 chr10:30,463,414...30,500,245
Ensembl chr10:30,818,599...30,854,542
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 chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
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 Ensembl chr10:133,682,456...133,683,445 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 chr15:20,172,874...20,223,382
Ensembl chr15:38,418,815...38,467,681
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 chr10:27,639,726...27,676,555
Ensembl chr10:28,001,249...28,037,527
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 chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721
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 chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819
JBrowse link
G TBC1D20 TBC1 domain family member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:644,646...670,860
Ensembl chr20:414,066...431,032
JBrowse link
G ZRANB3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr2B:24,331,731...24,665,652
Ensembl chr2B:139,234,909...139,577,193
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 chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721
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 chr2B:24,331,731...24,665,652
Ensembl chr2B:139,234,909...139,577,193
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 chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819
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 chr10:27,639,726...27,676,555
Ensembl chr10:28,001,249...28,037,527
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 chr20:644,646...670,860
Ensembl chr20:414,066...431,032
JBrowse link
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 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 Ensembl chr 4:6,345,864...6,379,287 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 Ensembl chr 4:6,345,864...6,379,287 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 4:95,251,920...95,313,404 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 4:95,324,597...95,475,599
Ensembl chr 4:105,971,131...106,071,773
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12749
    sensory system disease 4755
      eye disease 2437
        optic nerve disease 219
          Leber hereditary optic neuropathy + 15
          Optic Nerve Aplasia, Bilateral 1
          Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 1
          Optic Nerve Injuries 44
          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 + 116
          optic disk drusen + 4
          optic nerve neoplasm + 2
          optic neuritis + 37
          papilledema + 0
          pseudopapilledema 0
Path 2
Term Annotations click to browse term
  disease 12749
    disease of anatomical entity 12279
      nervous system disease 10025
        peripheral nervous system disease 2340
          neuropathy 2185
            cranial nerve disease 447
              optic nerve disease 219
                Leber hereditary optic neuropathy + 15
                Optic Nerve Aplasia, Bilateral 1
                Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 1
                Optic Nerve Injuries 44
                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 + 116
                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.