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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 chrNW_004955437:645,482...648,607 JBrowse link
G Edn1 endothelin 1 ISO human protein in a rat model RGD PMID:18442442 RGD:8661688 NCBI chrNW_004955465:2,287,906...2,314,945 JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:25356970 NCBI chrNW_004955484:1,924,523...1,939,777 JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721955 NCBI chrNW_004955476:10,058,979...10,074,668 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 chrNW_004955574:60,652...82,343 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 chrNW_004955451:16,616,595...16,625,731 JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:24316388 RGD:11039419 NCBI chrNW_004955451:14,688,181...14,690,126 JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snp:promoter:g.-786T>C (human) RGD PMID:16633797 RGD:7775040 NCBI chrNW_004955491:5,438,228...5,457,308 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 chrNW_004955553:1,746,759...1,755,316 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 chrNW_004955455:3,735,330...3,744,714 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 chrNW_004955514:3,902,508...3,924,281 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 chrNW_004955420:14,927,490...15,007,082 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 chrNW_004955476:10,058,979...10,074,668 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 chrNW_004955418:18,213,824...18,624,082 JBrowse link
G Kiaa0825 KIAA0825 ortholog ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chrNW_004955418:17,818,641...18,203,402 JBrowse link
G Nr2f1 nuclear receptor subfamily 2 group F member 1 ISO OMIM NCBI chrNW_004955418:18,615,548...18,622,984 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 chrNW_004955418:18,493,622...18,494,871 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 chrNW_004955555:869,508...892,510 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 chrNW_004955490:8,303,775...8,330,713 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 chrNW_004955497:3,701,515...3,752,627 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 chrNW_004955497:3,592,041...3,702,780 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 chrNW_004955419:21,092,583...21,277,294 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 chrNW_004955479:9,388,241...9,406,717 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chrNW_004955513:4,304,483...4,313,087 JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chrNW_004955604:125,489...136,209 JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:1862076, PMID:30311386 NCBI chrNW_004955429:17,787,337...17,791,982 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 chrNW_004955503:7,480,075...7,483,218 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 chrNW_004955420:14,927,490...15,007,082 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 chrNW_004955424:27,181,717...27,240,067 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 chrNW_004955437:8,784,211...8,794,789 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 chrNW_004955452:8,185,550...8,218,711 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 chrNW_004955495:1,590,493...1,594,760 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 chrNW_004955403:23,878,329...23,882,322 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 chrNW_004955524:2,674,508...2,683,304 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 chrNW_004955424:15,820,734...16,034,278 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 chrNW_004955565:879,560...1,242,727 JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic Atrophy, Recessive ClinVar NCBI chrNW_004955414:7,214,408...7,224,499 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 chrNW_004955413:27,027,341...27,065,227 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 chrNW_004955413:27,065,785...27,072,432 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 chrNW_004955412:20,419,754...20,421,541 JBrowse link
G Mfrp membrane frizzled-related protein ISO OMIM NCBI chrNW_004955412:20,421,935...20,426,760 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 chrNW_004955412:18,158,095...18,160,636 JBrowse link
G Ephx1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chrNW_004955520:116,363...142,983 JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,527,710...1,538,418 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,486,936...1,491,888 JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004955502:7,325,650...7,373,641 JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670, PMID:17011878 NCBI chrNW_004955471:2,603,395...2,610,988 JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:25741868 NCBI chrNW_004955468:12,961,873...12,971,278 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 chrNW_004955420:23,549,125...23,581,782 JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chrNW_004955466:2,473,145...2,485,779 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753, PMID:17011878 NCBI chrNW_004955423:23,184,326...23,208,206 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chrNW_004955550:2,015,319...2,073,627 JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:12601034, PMID:15293270 RGD:8158101, RGD:8158104 NCBI chrNW_004955439:21,209,101...21,223,538 JBrowse link
G Tp53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chrNW_004955467:9,241,391...9,256,716 JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955418:26,967,595...27,078,430 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 chrNW_004955415:23,221,084...23,263,548 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 chrNW_004955431:19,025,663...19,027,026 JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chrNW_004955555:1,998,170...2,002,003 JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chrNW_004955476:6,773,244...6,822,201 JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chrNW_004955432:22,258,262...22,292,403 JBrowse link
G Cav2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chrNW_004955432:22,240,041...22,242,200 JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chrNW_004955465:2,287,906...2,314,945 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20858111 RGD:10402863 NCBI chrNW_004955403:3,062,724...3,073,419 JBrowse link
G Myoc myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chrNW_004955406:12,182,115...12,194,683 JBrowse link
G Optn optineurin susceptibility ISO DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
DNA:SNPs:exon,introns:
DNA:polymorphism:exon:p.M98K(human)
RGD PMID:15226658, PMID:15557444, PMID:16148883 RGD:7771548, RGD:7775041, RGD:7775043 NCBI chrNW_004955462:1,098,118...1,150,291 JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28703795 NCBI chrNW_004955434:8,790,685...8,879,757 JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:decreased expression:serum (human) RGD PMID:21421868 RGD:8655579 NCBI chrNW_004955407:31,261,451...31,267,657 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 chrNW_004955419:10,190,937...10,201,896 JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chrNW_004955437:117,267...119,899 JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chrNW_004955467:9,241,391...9,256,716 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 chrNW_004955478:5,612,258...5,626,061 JBrowse link
G Clu clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chrNW_004955403:50,160,598...50,175,876 JBrowse link
G Epo erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chrNW_004955573:203,875...206,078 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chrNW_004955428:17,840,554...17,894,779 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 chrNW_004955497:7,653,309...7,831,737 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chrNW_004955451:13,545,994...13,560,231 JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chrNW_004955469:8,233,980...8,272,149 JBrowse link
G Il6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous: RGD PMID:22066978 RGD:7829760 NCBI chrNW_004955410:25,079,835...25,084,390 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 chrNW_004955447:15,810,816...15,851,702 JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chrNW_004955516:4,218,703...4,244,774 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 chrNW_004955491:5,438,228...5,457,308 JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chrNW_004955420:14,927,490...15,007,082 JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chrNW_004955599:578,165...580,055 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 chrNW_004955481:1,414,930...1,426,436 JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chrNW_004955414:32,303,045...32,351,401 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004955406:1,837,831...2,499,664 JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor
RGD
CTD
PMID:17505145, PMID:20577866, PMID:23411880 RGD:8549772, RGD:8655594 NCBI chrNW_004955437:9,527,445...9,541,908 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 chrNW_004955433:6,830,732...6,891,259 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 chrNW_004955772:1,160...10,709 JBrowse link
G Cd59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chrNW_004955422:12,500,572...12,528,738 JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chrNW_004955451:17,695,835...17,703,894 JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chrNW_004955402:60,324,060...60,448,926 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chrNW_004955445:11,295,500...11,303,322 JBrowse link
G Nefh neurofilament heavy ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chrNW_004955455:3,735,330...3,744,714 JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chrNW_004955407:42,972,584...42,980,510 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 F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (1691G>A) (human) RGD PMID:15043529 RGD:7394764 NCBI chrNW_004955462:7,695,004...7,757,832 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 chrNW_004955467:10,333,537...10,347,488 JBrowse link
G Itgb3 integrin subunit beta 3 susceptibility ISO DNA:polymorphism: : RGD PMID:20162297 RGD:8693343 NCBI chrNW_004955478:9,788,192...9,830,254 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :677C>T(human) RGD PMID:20162297 RGD:8693343 NCBI chrNW_004955486:2,096,379...2,112,240 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 chrNW_004955495:6,818,002...6,838,177 JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955413:27,027,341...27,065,227 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 chrNW_004955402:1,037,414...1,069,165 JBrowse link
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955473:4,891,955...4,925,705 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 chrNW_004955476:2,705,596...2,777,848 JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955403:57,820,003...57,907,324 JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955545:2,444,988...2,460,976 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 chrNW_004955406:33,817,754...34,005,937 JBrowse link
G Cyria CYFIP related Rac1 interactor A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chrNW_004955487:9,545,639...9,636,183 JBrowse link
G Ddx1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chrNW_004955487:9,085,950...9,117,599 JBrowse link
G Dnm1l dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chrNW_004955505:3,025,742...3,081,491 JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955545:1,682,097...1,689,373 JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955467:8,938,057...8,949,684 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 chrNW_004955452:8,185,550...8,218,711 JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chrNW_004955487:9,219,528...9,224,818 JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955478:11,131,908...11,186,465 JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chrNW_004955422:713,370...717,926 JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chrNW_004955486:3,637,794...3,655,744 JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004955477:2,430,146...2,450,135 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 chrNW_004955420:14,927,490...15,007,082 JBrowse link
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955402:1,534,619...1,873,143 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 chrNW_004955559:1,064,924...1,070,120 JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955413:27,065,785...27,072,432 JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955473:4,875,230...4,891,898 JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955470:12,180,426...12,247,737 JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chrNW_004955514:954,489...968,670 JBrowse link
G Slc25a46 solute carrier family 25 member 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168012 NCBI chrNW_004955418:4,316,790...4,342,748 JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955470:3,828,943...3,856,059 JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chrNW_004955506:273,769...434,205 JBrowse link
G Tbk1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chrNW_004955458:11,210,120...11,263,632 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 chrNW_004955514:3,902,508...3,924,281 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 chrNW_004955420:14,927,490...15,007,082 JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chrNW_004955574:60,652...82,343 JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chrNW_004955514:3,902,508...3,924,281 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 chrNW_004955411:31,902,848...31,950,645 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 chrNW_004955429:2,550,611...2,572,472 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 chrNW_004955402:1,037,414...1,069,165 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 chrNW_004955574:60,652...82,343 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 chrNW_004955505:3,025,742...3,081,491 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 chrNW_004955505:3,004,084...3,011,003 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 chrNW_004955414:7,214,408...7,224,499 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 chrNW_004955413:27,027,341...27,065,227 JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:25351951 NCBI chrNW_004955413:27,065,785...27,072,432 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 chrNW_004955476:10,058,979...10,074,668 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 chrNW_004955427:24,691,206...24,705,599 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 chrNW_004955481:6,145,855...6,404,179 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 chrNW_004955420:10,671,888...10,674,080 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 chrNW_004955445:7,498,223...7,530,828 JBrowse link
G Amigo3 adhesion molecule with Ig like domain 3 treatment ISO RGD PMID:23613963 RGD:14390159 NCBI chrNW_004955532:1,618,659...1,621,706 JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20216911 RGD:2326035 NCBI chrNW_004955772:1,160...10,709 JBrowse link
G Aqp9 aquaporin 9 ISO RGD PMID:20216911 RGD:2326035 NCBI chrNW_004955450:16,253,706...16,346,602 JBrowse link
G Arg2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chrNW_004955466:2,549,557...2,577,060 JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:10366744 RGD:10047417 NCBI chrNW_004955449:332,563...411,218 JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chrNW_004955559:1,695,960...1,700,246 JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chrNW_004955402:46,911,125...47,084,214 JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO RGD PMID:9520478, PMID:11050383, PMID:15140649 RGD:8655584, RGD:8655586, RGD:8655637 NCBI chrNW_004955476:6,773,244...6,822,201 JBrowse link
G C3 complement C3 ISO mRNA:increased expression:optic nerve RGD PMID:14577867 RGD:5129542 NCBI chrNW_004955495:2,796,601...2,824,233 JBrowse link
G Cdk2 cyclin dependent kinase 2 ISO mRNA:increased expression:retina RGD PMID:16723461 RGD:2293567 NCBI chrNW_004955458:3,555,603...3,561,063 JBrowse link
G Cfl1 cofilin 1 treatment ISO RGD PMID:27443501 RGD:11568693 NCBI chrNW_004955422:19,479,181...19,482,571 JBrowse link
G Clu clusterin ISO RGD PMID:14577867 RGD:5129542 NCBI chrNW_004955403:50,160,598...50,175,876 JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:20144610 RGD:11039471 NCBI chrNW_004955451:14,688,181...14,690,126 JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:retina (rat) RGD PMID:18775855 RGD:2315508 NCBI chrNW_004955403:53,086,236...53,100,217 JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chrNW_004955465:2,287,906...2,314,945 JBrowse link
G Ednra endothelin receptor type A ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chrNW_004955428:3,062,303...3,114,761 JBrowse link
G Ednrb endothelin receptor type B ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chrNW_004955404:29,394,253...29,425,358 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 chrNW_004955413:26,647,553...26,727,875 JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:14664816 RGD:8554854 NCBI chrNW_004955428:17,840,554...17,894,779 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:15144875 RGD:6218970 NCBI chrNW_004955426:22,386,613...22,412,324 JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:15144875 RGD:6218970 NCBI chrNW_004955431:20,859,152...21,070,886 JBrowse link
G Gfra2 GDNF family receptor alpha 2 ISO RGD PMID:15144875 RGD:6218970 NCBI chrNW_004955403:45,235,161...45,324,825 JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:21443522 RGD:8548549 NCBI chrNW_004955410:4,114,280...4,181,953 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 chrNW_004955416:26,101,090...26,382,660 JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:10366744 RGD:10047417 NCBI chrNW_004955464:1,107,598...1,110,326 JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:20216911 RGD:2326035 NCBI chrNW_004955468:11,828,525...11,860,365 JBrowse link
G Nampt nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28032230 RGD:13781885 NCBI chrNW_004955410:10,717,664...10,742,109 JBrowse link
G Nefm neurofilament medium ISO RGD PMID:8501527 RGD:9743936 NCBI chrNW_004955403:47,920,408...47,926,922 JBrowse link
G Neo1 neogenin 1 ISO protein:increased expression:retina RGD PMID:21887516 RGD:9850142 NCBI chrNW_004955450:4,191,168...4,324,997 JBrowse link
G Ngfr nerve growth factor receptor ISO RGD PMID:20943663 RGD:5508695 NCBI chrNW_004955451:12,030,303...12,047,305 JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:20943663 RGD:5508695 NCBI chrNW_004955545:2,929,704...2,947,579 JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20357199 RGD:5684908 NCBI chrNW_004955432:2,284,283...2,629,631 JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA:increased expression:retina: RGD PMID:12836167 RGD:1299297 NCBI chrNW_004955405:18,434,711...18,540,710 JBrowse link
G Pax6 paired box 6 ISO protein:increased expression:retina (rat) RGD PMID:23297010 RGD:8552379 NCBI chrNW_004955476:10,058,979...10,074,668 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:decreased expression:nerve fiber: RGD PMID:9893812 RGD:10449496 NCBI chrNW_004955413:25,150,702...25,166,987 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:optic nerve (rat) RGD PMID:22336118 RGD:6767293 NCBI chrNW_004955478:7,448,584...7,531,860 JBrowse link
G Plau plasminogen activator, urokinase ISO mRNA:increased expression:optic nerve (rat) RGD PMID:20798533 RGD:6483802 NCBI chrNW_004955437:17,995,726...18,000,542 JBrowse link
G Ptpn5 protein tyrosine phosphatase non-receptor type 5 ISO protein:increased expression:retina (rat) RGD PMID:15555919 RGD:9835027 NCBI chrNW_004955414:33,381,783...33,436,974 JBrowse link
G Rhoa ras homolog family member A ISO protein:increased expression, altered localization:retina RGD PMID:17534117 RGD:1642826 NCBI chrNW_004955532:1,300,821...1,347,453 JBrowse link
G Snw1 SNW domain containing 1 ISO protein:increased expression:retina (rat) RGD PMID:25074585 RGD:11035254 NCBI chrNW_004955438:1,561,562...1,601,492 JBrowse link
G Tlr4 toll like receptor 4 ISO protein:increased expression:optic nerve RGD PMID:23103505 RGD:7794777 NCBI chrNW_004955419:10,190,937...10,201,896 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:14697498, PMID:18552980 RGD:7794683, RGD:8661743 NCBI chrNW_004955413:3,982,670...3,996,320 JBrowse link
G Tradd TNFRSF1A associated via death domain ISO protein:increased expression: retina RGD PMID:18552980 RGD:7794683 NCBI chrNW_004955484:9,456,268...9,462,425 JBrowse link
G Ybx3 Y-box binding protein 3 ISO mRNA:increased expression:retinal ganglion cell RGD PMID:11750989 RGD:2311250 NCBI chrNW_004955413:7,090,085...7,111,542 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 chrNW_004955772:1,160...10,709 JBrowse link
G Capn1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23860028 NCBI chrNW_004955422:20,006,448...20,026,984 JBrowse link
G Cat catalase treatment ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:18055782 RGD:9068881 NCBI chrNW_004955422:11,783,973...11,826,970 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 chrNW_004955450:2,631,310...2,663,118 JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO RGD PMID:22157536, PMID:23860028 RGD:9685553, RGD:9685554 NCBI chrNW_004955583:136,077...150,597 JBrowse link
G Nefh neurofilament heavy severity ISO protein:increased expression:serum: RGD PMID:15258226, PMID:29085182 RGD:27226813, RGD:27226814 NCBI chrNW_004955455:3,735,330...3,744,714 JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:17251466 RGD:8158052 NCBI chrNW_004955439:21,209,101...21,223,538 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 chrNW_004955424:27,617,833...27,771,385 JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chrNW_004955405:37,505,830...37,582,152 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 chrNW_004955542:756,834...832,805 JBrowse link
G Znhit3 zinc finger HIT-type containing 3 ISO OMIM NCBI chrNW_004955451:1,436,440...1,444,484 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 chrNW_004955492:4,502,705...4,573,126 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 chrNW_004955406:6,907,876...7,163,672 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955405:25,533,037...25,607,021 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 chrNW_004955427:21,120,012...21,171,838 JBrowse link
G LOC102009679 chromosome unknown open reading frame, human C12orf29 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chrNW_004955405:25,514,644...25,533,520 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 chrNW_004955470:3,261,455...3,305,989 JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:28492532 NCBI chrNW_004955486:6,442,058...6,547,451 JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chrNW_004955406:6,694,687...6,909,555 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 chrNW_004955449:8,242,327...8,306,012 JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chrNW_004955443:8,053,847...8,122,918 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 chrNW_004955470:3,261,455...3,305,989 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 chrNW_004955501:5,799,879...5,837,022 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 chrNW_004955486:6,442,058...6,547,451 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 chrNW_004955427:21,120,012...21,171,838 JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO OMIM NCBI chrNW_004955405:25,533,037...25,607,021 JBrowse link
G LOC102009679 chromosome unknown open reading frame, human C12orf29 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chrNW_004955405:25,514,644...25,533,520 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 chrNW_004955406:6,907,876...7,163,672 JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chrNW_004955406:6,588,504...6,695,246 JBrowse link
G Pld5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chrNW_004955406:5,810,286...5,994,601 JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO OMIM NCBI chrNW_004955406:6,694,687...6,909,555 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 chrNW_004955443:8,053,847...8,122,918 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 chrNW_004955542:2,264,472...2,301,083 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 chrNW_004955487:8,894,403...9,073,535 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 chrNW_004955402:1,037,414...1,069,165 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 chrNW_004955415:32,182,536...32,457,511 JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chrNW_004955513:2,324,025...2,382,877 JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955418:19,346...30,514 JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chrNW_004955467:10,391,957...10,397,212 JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955437:14,749,808...15,457,274 JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chrNW_004955467:10,399,768...10,423,249 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 chrNW_004955428:13,519,285...13,548,007 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 chrNW_004955413:4,108,044...4,116,413 JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO OMIM NCBI chrNW_004955413:4,117,367...4,124,149 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 chrNW_004955467:10,375,017...10,391,546 JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955467:10,312,620...10,318,700 JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955467:10,363,154...10,368,261 JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955467:10,333,537...10,347,488 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 chrNW_004955467:10,391,957...10,397,212 JBrowse link
G Kif1c kinesin family member 1C ISO OMIM NCBI chrNW_004955467:10,399,768...10,423,249 JBrowse link
G LOC102020788 chromosome unknown open reading frame, human C17orf107 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955467:10,313,693...10,314,724 JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955467:10,357,838...10,360,651 JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955467:10,352,650...10,357,214 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 chrNW_004955467:10,349,378...10,352,649 JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004955467:10,369,493...10,374,540 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 chrNW_004955403:2,967,541...2,970,443 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 chrNW_004955497:3,701,515...3,752,627 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 chrNW_004955429:21,768,011...21,792,481 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 chrNW_004955402:1,037,414...1,069,165 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 chrNW_004955477:10,386,033...10,387,423 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 chrNW_004955416:8,090,034...8,131,605 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 chrNW_004955422:19,047,942...19,057,153 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 chrNW_004955462:1,380,158...1,411,804 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 chrNW_004955440:2,551,015...2,645,938 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 chrNW_004955520:3,411,504...3,483,703 JBrowse link
G Tbc1d20 TBC1 domain family member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955597:291,541...313,799 JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chrNW_004955440:2,683,041...2,907,859 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 chrNW_004955440:2,551,015...2,645,938 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 chrNW_004955440:2,683,041...2,907,859 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 chrNW_004955520:3,411,504...3,483,703 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 chrNW_004955462:1,380,158...1,411,804 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 chrNW_004955597:291,541...313,799 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 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 Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
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 chrNW_004955514:3,902,508...3,924,281 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 chrNW_004955514:3,902,508...3,924,281 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 chrNW_004955496:5,656,686...5,672,888 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 chrNW_004955496:5,586,836...5,637,550 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11810
    sensory system disease 4499
      eye disease 2320
        optic nerve disease 213
          Leber hereditary optic neuropathy + 15
          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 + 7
          bilateral optic nerve hypoplasia 1
          chiasmal syndrome 0
          low tension glaucoma 14
          optic atrophy + 116
          optic disk drusen + 4
          optic nerve neoplasm + 2
          optic neuritis + 33
          papilledema + 0
          pseudopapilledema 0
Path 2
Term Annotations click to browse term
  disease 11810
    disease of anatomical entity 11364
      nervous system disease 9290
        peripheral nervous system disease 2260
          neuropathy 2114
            cranial nerve disease 435
              optic nerve disease 213
                Leber hereditary optic neuropathy + 15
                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 + 7
                bilateral optic nerve hypoplasia 1
                chiasmal syndrome 0
                low tension glaucoma 14
                optic atrophy + 116
                optic disk drusen + 4
                optic nerve neoplasm + 2
                optic neuritis + 33
                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.