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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.


show annotations for term's descendants           Sort by:
 
optic nerve disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor IEP associated with Alzheimer Disease;protein:increased expression:optic nerve RGD PMID:19277685 RGD:8695971 NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G EDN1 endothelin 1 IDA human protein in a rat model RGD PMID:18442442 RGD:8661688 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:25356970 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:28027978 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:28027978 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Optic neuropathy ClinVar NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G PAX6 paired box 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12721955 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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 IAGP ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar
OMIM
PMID:11668429, PMID:12126933, PMID:15342707, PMID:15902555, PMID:18985435, PMID:20350831, PMID:23700088, PMID:24136862, PMID:24749080, PMID:25159689, PMID:25201222, PMID:25205859, PMID:25741868, PMID:26190011, PMID:27528516, PMID:27629047, PMID:28081242, PMID:28492532, PMID:30311386 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,427...45,602,212
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 chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA RGD PMID:24316388 RGD:11039419 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15980766 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:snp:cds:m.4132G>A (human) RGD PMID:17454741 RGD:5490236 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP DNA:snp:promoter:g.-786T>C (human) RGD PMID:16633797 RGD:7775040 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:11222789, PMID:14985266, PMID:16534102, PMID:17661097, PMID:18200586, PMID:18799786, PMID:19841671, PMID:20186691, PMID:20981092, PMID:21623769, PMID:22554690, PMID:22571692, PMID:22964162, PMID:23065789, PMID:23269439, PMID:23733235, PMID:23812641, PMID:24033266, PMID:24727571, PMID:24731568, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25681447, PMID:25714468, PMID:25741868, PMID:25976027, PMID:26094131, PMID:26260707, PMID:26374131, PMID:26467025, PMID:26506339, PMID:26626314, PMID:26671083, PMID:26756429, PMID:27016405, PMID:27084228, PMID:27165006, PMID:27181684, PMID:27217339, PMID:27260292, PMID:27957547, PMID:28362824, PMID:28492532, PMID:28608987, PMID:28832565, PMID:29026558, PMID:29057857, PMID:30311386, PMID:32581362 NCBI chr16:89,508,379...89,557,768
Ensembl chr16:89,490,719...89,557,766
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 IAGP ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:28965846 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031
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 IEP RGD PMID:23316360 RGD:27226805 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
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 IAGP ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar
OMIM
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044 NCBI chr 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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 IAGP ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
ClinVar
OMIM
PMID:9490303, PMID:9917792, PMID:11017079, PMID:11440988, PMID:11440989, PMID:11810270, PMID:12036970, PMID:14961560, PMID:15505825, PMID:16513463, PMID:17722006, PMID:18222991, PMID:20157015, PMID:20659957, PMID:20952381, PMID:21636302, PMID:21646330, PMID:22042570, PMID:22857269, PMID:23250881, PMID:23401657, PMID:24907432, PMID:25012220, PMID:25146916, PMID:25564500, PMID:25641387, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28812649, PMID:30311386 NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G OPA1-AS1 OPA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES ClinVar PMID:25741868 NCBI chr 3:193,618,599...193,627,332
Ensembl chr 3:193,618,609...193,627,337
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 IAGP ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral OMIM
ClinVar
PMID:12721955, PMID:25741868, PMID:28488383, PMID:28492532 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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 IAGP ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 5:93,615,130...94,111,699
Ensembl chr 5:93,617,725...94,111,699
JBrowse link
G KIAA0825 KIAA0825 IAGP ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 5:94,150,851...94,618,604
Ensembl chr 5:94,152,966...94,618,597
JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 IAGP ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome
ClinVar
OMIM
PMID:10624948, PMID:11511537, PMID:14738874, PMID:18414213, PMID:19812316, PMID:20147377, PMID:23300014, PMID:24462372, PMID:24781210, PMID:25326637, PMID:25741868, PMID:25741869, PMID:25877686, PMID:26138355, PMID:26350515, PMID:26986877, PMID:28654857, PMID:28963436 NCBI chr 5:93,583,222...93,594,613
Ensembl chr 5:93,583,222...93,594,611
JBrowse link
G POU5F2 POU domain class 5, transcription factor 2 IAGP ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 5:93,733,220...93,741,600
Ensembl chr 5:93,733,220...93,741,600
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 IAGP DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar
OMIM
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25326637, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28708303, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362, PMID:24468074 RGD:11576280 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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 IAGP ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5 ClinVar
OMIM
PMID:17701900, PMID:24285972, PMID:25182139, PMID:25491489, PMID:28492532 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993
Ensembl chr  X:107,628,428...107,651,993
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKFY1 ankyrin repeat and FYVE domain containing 1 ISS OMIM:270550 MouseDO NCBI chr17:4,163,820...4,263,979
Ensembl chr17:4,163,821...4,263,995
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar
OMIM
PMID:8472930, PMID:9892370, PMID:10610707, PMID:10655055, PMID:11788093, PMID:12873855, PMID:14718706, PMID:14718708, PMID:15156359, PMID:15486997, PMID:15985586, PMID:16007637, PMID:16606928, PMID:16944349, PMID:16961075, PMID:17516465, PMID:17683082, PMID:17846221, PMID:18414213, PMID:18439928, PMID:18465152, PMID:18569450, PMID:18604465, PMID:19208651, PMID:19779133, PMID:19892370, PMID:20301432, PMID:20368637, PMID:20798953, PMID:20852969, PMID:20876471, PMID:21450511, PMID:21507954, PMID:21665375, PMID:21745802, PMID:21993619, PMID:22287014, PMID:22441213, PMID:22751902, PMID:22816526, PMID:22892508, PMID:23043354, PMID:23250129, PMID:23280630, PMID:23338241, PMID:23497566, PMID:23598833, PMID:24033266, PMID:24180463, PMID:24318559, PMID:24384335, PMID:24457356, PMID:25237835, PMID:25401298, PMID:25405613, PMID:25497598, PMID:25741868, PMID:25819952, PMID:25887915, PMID:26010040, PMID:26068213, PMID:26288984, PMID:26302956, PMID:26366743, PMID:26410750, PMID:26467025, PMID:26539891, PMID:27217339, PMID:27288452, PMID:27433545, PMID:27871429, PMID:27980752, PMID:28251916, PMID:28362824, PMID:28454995, PMID:28491899, PMID:28492532, PMID:28535259, PMID:28641335, PMID:28658401, PMID:28832565, PMID:29220673, PMID:29379980, PMID:29417091, PMID:29453517, PMID:29482223, PMID:29538656, PMID:29858556, PMID:29915382, PMID:29968200, PMID:30680480 NCBI chr13:23,328,827...23,433,728
Ensembl chr13:23,328,826...23,433,740
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
Ensembl chr13:23,180,979...23,325,162
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 IAGP ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE OMIM
ClinVar
PMID:28097321, PMID:31855247 NCBI chr 9:105,244,608...105,439,775
Ensembl chr 9:105,244,622...105,439,171
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 IAGP ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 7:128,392,277...128,409,989
Ensembl chr 7:128,392,277...128,410,252
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 9:136,428,619...136,439,861
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G PRPF31 pre-mRNA processing factor 31 IAGP ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr19:54,115,706...54,131,719
Ensembl chr19:54,115,410...54,131,719
JBrowse link
G RHO rhodopsin IAGP ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:1862076, PMID:30311386 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344
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 IAGP
EXP
DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)
ClinVar
CTD
OMIM
PMID:8841189, PMID:10878669, PMID:11405816, PMID:11601506, PMID:11803487, PMID:15037720, PMID:15710860, PMID:16411215, PMID:17851739, PMID:17936919, PMID:24033266, PMID:15710860, PMID:17471106, PMID:11601506 RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742
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 IAGP ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
ClinVar Annotator: match by term: Autosomal dominant optic atrophy plus syndrome
ClinVar
OMIM
PMID:4058877, PMID:6493699, PMID:12566046, PMID:14644237, PMID:15531309, PMID:16158427, PMID:16240368, PMID:17188070, PMID:17722006, PMID:18065439, PMID:18158317, PMID:18195150, PMID:19029523, PMID:19303950, PMID:20157015, PMID:21112924, PMID:21636302, PMID:21646330, PMID:22857269, PMID:25012220, PMID:25564500, PMID:25741868, PMID:26467025, PMID:27890673, PMID:28492532, PMID:28812649, PMID:30311386 NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G OPA1-AS1 OPA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY ClinVar PMID:25741868 NCBI chr 3:193,618,599...193,627,332
Ensembl chr 3:193,618,609...193,627,337
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 IAGP
IEP
ISO
DNA:missense mutation:cds:p.R345W (human)
ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy
ClinVar Annotator: match by term: Malattia leventinese
protein:altered expression: :
ClinVar
OMIM
PMID:10369267, PMID:11384588, PMID:11389162, PMID:12242346, PMID:17666404, PMID:22031286, PMID:25077532, PMID:25741868, PMID:28492532, PMID:30541486, PMID:10369267, PMID:12242346, PMID:17664227 RGD:1598888, RGD:10401794, RGD:10401791 NCBI chr 2:55,865,967...55,924,163
Ensembl chr 2:55,865,967...55,924,139
JBrowse link
G PRPH2 peripherin 2 IAGP ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina ClinVar PMID:11139241, PMID:25675413, PMID:25741868, PMID:26842753, PMID:28492532 NCBI chr 6:42,694,509...42,723,039
Ensembl chr 6:42,696,598...42,722,597
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 IAGP ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ClinVar
OMIM
PMID:25741868, PMID:27817865, PMID:32313153 NCBI chr 1:29,192,657...29,230,948
Ensembl chr 1:29,192,657...29,230,942
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 IAGP OMIM NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,310,045...10,316,015
JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:4114165, PMID:7726154, PMID:7726155, PMID:9353617, PMID:10392369, PMID:11437868, PMID:12393175, PMID:15048886, PMID:25741868, PMID:31965079, PMID:32313153 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP 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 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
JBrowse link
G SLC25A42 solute carrier family 25 member 42 IAGP 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 chr19:19,063,994...19,113,030
Ensembl chr19:19,063,994...19,113,030
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 IAGP DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
ClinVar Annotator: match by term: Odontotrichomelic syndrome
ClinVar
OMIM
PMID:9180938, PMID:9298746, PMID:23602711, PMID:24033266, PMID:25045128, PMID:23602711 RGD:9684854 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,178...69,249,327
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 IAGP RGD PMID:9722958 RGD:734690 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,517
Ensembl chr  X:41,514,934...41,923,517
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8662757, PMID:11695835 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10072046 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G TMEM126A transmembrane protein 126A IAGP ClinVar Annotator: match by term: Optic Atrophy, Recessive ClinVar NCBI chr11:85,647,967...85,656,542
Ensembl chr11:85,647,967...85,656,547
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 IAGP ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar
OMIM
PMID:22405087, PMID:24088041, PMID:25351951, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30689204, PMID:32214227 NCBI chr22:41,468,756...41,528,979
Ensembl chr22:41,469,117...41,528,989
JBrowse link
G POLR3H RNA polymerase III subunit H IAGP ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041, PMID:25351951, PMID:25741868 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
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 IAGP ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar Annotator: match by term: Microphthalmia, isolated 5
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 chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940
JBrowse link
G MFRP membrane frizzled-related protein IAGP DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar
OMIM
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, PMID:19753314 RGD:11553925 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
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 IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:18061280 RGD:5685659 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
JBrowse link
G EPHX1 epoxide hydrolase 1 onset IAGP DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,092...225,845,563
JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G LCA5 lebercilin LCA5 IAGP ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:79,484,991...79,537,430
Ensembl chr 6:79,484,991...79,537,458
JBrowse link
G LRAT lecithin retinol acyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16250670, PMID:17011878 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility IAGP
EXP
DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.8668T>C, p.W48R
ClinVar
CTD
PMID:7726182, PMID:19026397, PMID:20454697 RGD:5490293, RGD:5508187 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
CTD
ClinVar
PMID:7573056, PMID:7804416, PMID:8037217, PMID:8240356, PMID:25741868, PMID:30311386 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP
EXP
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1732158, PMID:1764087, PMID:7901141, PMID:8240104, PMID:8321540, PMID:8755941, PMID:25741868 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP
EXP
DNA:snp:cds:m.3635G>A (human)
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber Hereditary Optic Neuropathy
DNA:missense mutation:cds:p.L289M (m.4171C>A) (human)
DNA:missense mutation:cds:m.3866T>C (p.I187T) (human)
DNA:snps:cds:m.4136A>G, m.4160T>C (human)
DNA:snp:cds:m.3394T>C (human)
DNA:transition:CDS:c.3460G>A, p.A52T
ClinVar
CTD
PMID:1417830, PMID:1442494, PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:8496715, PMID:11479733, PMID:11854175, PMID:12112111, PMID:12205655, PMID:15342361, PMID:15466014, PMID:15505787, PMID:15972314, PMID:16738010, PMID:16969869, PMID:17562939, PMID:17620555, PMID:18216301, PMID:19497304, PMID:19555656, PMID:22879922, PMID:24569607, PMID:24830958, PMID:24884847, PMID:25194554, PMID:27449621, PMID:29991444, PMID:11479733, PMID:12112111, PMID:22577081, PMID:2018041, PMID:19324017, PMID:20454697 RGD:5508685, RGD:8657118, RGD:8657116, RGD:5508712, RGD:5508689, RGD:5508187 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP
EXP
DNA:transversion:CDS:c.4852T>A, p.L128Q
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
CTD
ClinVar
PMID:1732158, PMID:1900003, PMID:11479733, PMID:20454697 RGD:5508187 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP DNA: mutation
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar PMID:12227465, PMID:17152068, PMID:17413873, PMID:19458970, PMID:19458970 RGD:5508703 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP
EXP
IMP
DNA:mutation:exon:p.R340H(human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.11778G>A (p.R340H) (human)
DNA:mutation:exon: 11778G>A
DNA:mutation: :m.11696G>A(human)
ClinVar
CTD
PMID:1346348, PMID:1352537, PMID:1469456, PMID:1734726, PMID:1763894, PMID:1770533, PMID:1770665, PMID:1866007, PMID:1900003, PMID:1937476, PMID:1959619, PMID:1959931, PMID:2039048, PMID:2222273, PMID:2286378, PMID:2346190, PMID:2346203, PMID:2390098, PMID:2566021, PMID:2566116, PMID:2575667, PMID:2817063, PMID:3201231, PMID:8101084, PMID:8240101, PMID:8240102, PMID:8448903, PMID:8449667, PMID:8457609, PMID:8474822, PMID:8489402, PMID:8489411, PMID:8644732, PMID:9150158, PMID:11169561, PMID:11854175, PMID:12402249, PMID:12560876, PMID:12707444, PMID:15342361, PMID:15576045, PMID:16120329, PMID:16431939, PMID:16477364, PMID:16532388, PMID:18771762, PMID:19026397, PMID:24569607, PMID:25741868, PMID:3201231, PMID:20454697, PMID:18771762, PMID:19022198, PMID:16364244, PMID:12436196 RGD:1581057, RGD:5508187, RGD:5507829, RGD:5491183, RGD:1581058, RGD:1581059 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
JBrowse link
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L IAGP
EXP
DNA:missense mutation:cds:m.10680G>A (p.A71T) (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)
ClinVar
CTD
PMID:8680405, PMID:11935318, PMID:19394449, PMID:11935318 RGD:5686339, RGD:5686341 NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766
JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP
EXP
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:mutation: :m.13708G>A (human)
DNA:mutation:exon:13042G>A (A236T) (human)
DNA:mutation:exon:p.Y159H(human)
DNA:mutation:: m.12338 T>C
ClinVar
CTD
PMID:1417830, PMID:1732158, PMID:1764087, PMID:1900003, PMID:8213825, PMID:12509858, PMID:12736867, PMID:15767514, PMID:16240359, PMID:16816025, PMID:17400793, PMID:18332249, PMID:21131053, PMID:27164671, PMID:16240359, PMID:1732158, PMID:16816025, PMID:19022198, PMID:21131053 RGD:1581060, RGD:5507826, RGD:5491202, RGD:5491183, RGD:5491172 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP
EXP
ISO
DNA:SNP, haplotypes: :m.14484T>C (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:mutation: :m.13997G>A (p.P25L) (mouse)
DNA:missense mutations, haplotypes:cds:multiple
DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)
ClinVar
CTD
PMID:1463007, PMID:1634041, PMID:5511487, PMID:7654063, PMID:8016139, PMID:8470982, PMID:8622678, PMID:8644732, PMID:8854108, PMID:9012411, PMID:9177303, PMID:9849804, PMID:10072046, PMID:10631164, PMID:10894222, PMID:11133798, PMID:12112086, PMID:12205655, PMID:12736867, PMID:12827453, PMID:14735585, PMID:15342361, PMID:15922297, PMID:15954041, PMID:16380132, PMID:18674747, PMID:24569607, PMID:29987491, PMID:23665487, PMID:23129651, PMID:24398099, PMID:19732751 RGD:8657119, RGD:8657127, RGD:8657125, RGD:8657123 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Optic atrophy, Leber type ClinVar PMID:28027978, PMID:31965079 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:25741868 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,395
JBrowse link
G PARL presenilin associated rhomboid like no_association IAGP 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 3:183,826,488...183,884,901
Ensembl chr 3:183,815,568...183,884,889
Ensembl chr 3:183,815,568...183,884,889
JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP RGD PMID:15322982 RGD:1599415 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16828753, PMID:17011878 NCBI chr 1:68,428,822...68,450,322
Ensembl chr 1:68,428,822...68,449,954
JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP RGD PMID:11283794 RGD:1599580 NCBI chr14:21,280,083...21,351,316
Ensembl chr14:21,287,939...21,351,301
JBrowse link
G SOD2 superoxide dismutase 2 treatment IDA
ISO
RGD PMID:15293270, PMID:12601034 RGD:8158101, RGD:8158104 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TP53 tumor protein p53 onset IAGP DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G VCAN versican IAGP ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:30311386 NCBI chr 5:83,471,744...83,582,302
Ensembl chr 5:83,471,618...83,582,303
JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia ClinVar PMID:17152068, PMID:17413873, PMID:19458970 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404
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 IAGP ClinVar Annotator: match by term: Leber plus disease ClinVar PMID:25741868 NCBI chr20:13,785,026...13,821,580
Ensembl chr20:13,785,007...13,821,580
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 IAGP DNA:polymorphism:cds:p.R389G(human) RGD PMID:16785856 RGD:8548468 NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904
JBrowse link
G APOE apolipoprotein E susceptibility IAGP DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G BDNF brain derived neurotrophic factor IEP protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CAV1 caveolin 1 no_association IAGP DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
JBrowse link
G CAV2 caveolin 2 susceptibility IAGP DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 7:116,499,738...116,508,541
Ensembl chr 7:116,287,380...116,508,541
JBrowse link
G CRP C-reactive protein no_association IEP protein:increased expression:plasma: RGD PMID:16148587, PMID:22966842 RGD:9491770, RGD:9491771 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G EDN1 endothelin 1 IEP protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20858111 RGD:10402863 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G MYOC myocilin susceptibility IAGP DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688
JBrowse link
G OPTN optineurin susceptibility IAGP DNA:SNPs:exon,introns:
DNA:polymorphism:exon:p.M98K(human)
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
RGD PMID:16148883, PMID:15226658, PMID:15557444 RGD:7771548, RGD:7775043, RGD:7775041 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G SLC1A1 solute carrier family 1 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28703795 NCBI chr 9:4,490,466...4,587,469
Ensembl chr 9:4,490,468...4,587,469
JBrowse link
G SLC1A3 solute carrier family 1 member 3 ISS OMIM:606657 MouseDO NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,606,355...36,688,334
JBrowse link
G SOD1 superoxide dismutase 1 IEP
ISS
protein:decreased expression:serum (human)
OMIM:606657
MouseDO PMID:21421868 RGD:8655579 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,622...31,668,931
Ensembl chr21:31,659,622...31,668,931
JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association
IAGP DNA:polymorphism,haplotype:multiple:
DNA:polymorphisms:multiple:
RGD PMID:22831837, PMID:21921986 RGD:7794768, RGD:7794769 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNF tumor necrosis factor IAGP DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IEP associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: RGD PMID:16080911 RGD:2315548 NCBI chr17:66,212,033...66,229,415
Ensembl chr17:66,212,033...66,256,525
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity IEP associated with Diabetic Retinopathy;protein:increased expression:vitreous humor
associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human)
RGD PMID:19118698, PMID:22066978 RGD:2306981, RGD:7829760 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CLU clusterin IEP associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G EPO erythropoietin severity IEP RGD PMID:20664492 RGD:10400883 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G FGF2 fibroblast growth factor 2 IEP associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: RGD PMID:24894397 RGD:10402117 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GPR179 G protein-coupled receptor 179 IAGP ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr17:38,324,571...38,343,956
Ensembl chr17:38,325,530...38,343,847
Ensembl chr17:38,325,530...38,343,847
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 2:26,244,917...26,290,465
Ensembl chr 2:26,243,170...26,290,465
JBrowse link
G IL6 interleukin 6 IEP associated with Retinal vein occlusion;protein:increased expression:vitreous: RGD PMID:22066978 RGD:7829760 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KDR kinase insert domain receptor IEP associated with retinal vein occlusion;protein:increased expression:vitreous humor RGD PMID:23411880 RGD:8549772 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G NDP norrin cystine knot growth factor NDP EXP CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP 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 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G ROM1 retinal outer segment membrane protein 1 IAGP ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116
Ensembl chr11:62,611,722...62,615,116
JBrowse link
G SERPINF1 serpin family F member 1 treatment IEP
IDA
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 chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr11:17,493,895...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Macular oedema ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G VEGFA vascular endothelial growth factor A IEP
EXP
associated with retinal vein occlusion;protein:increased expression:vitreous humor
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor
CTD PMID:20577866, PMID:23411880, PMID:17505145 RGD:8549772, RGD:8655594 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES ClinVar
OMIM
PMID:30464055 NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166
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 IDA
EXP
ISO
IAGP
CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD PMID:18509235, PMID:24070676, PMID:16087714, PMID:22271321, PMID:18420727, PMID:23116879, PMID:23890015, PMID:23995423, PMID:20047900 RGD:5148024, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G CD59 CD59 molecule (CD59 blood group) severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,491
Ensembl chr11:33,703,010...33,736,491
JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr17:44,903,159...44,915,552
Ensembl chr17:44,903,159...44,916,937
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD PMID:21908482, PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD PMID:21748712, PMID:27049564 RGD:5147590, RGD:11530523 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G IL6 interleukin 6 severity IEP protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MBP myelin basic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NEFH neurofilament heavy IEP protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G S100B S100 calcium binding protein B IEP RGD PMID:21371524 RGD:5508767 NCBI chr21:46,598,604...46,605,243
Ensembl chr21:46,598,604...46,605,208
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 IAGP DNA:insertion/deletion:intron RGD PMID:21633717 RGD:8548899 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CRP C-reactive protein IEP protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G F5 coagulation factor V IAGP DNA:missense mutation:cds:p.R506Q (1691G>A) (human) RGD PMID:15043529 RGD:7394764 NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha susceptibility IAGP
EXP
ClinVar Annotator: match by term: Nonarteritic anterior ischemic optic neuropathy, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1693792, PMID:3303030, PMID:6235867, PMID:14711733 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G ITGB3 integrin subunit beta 3 susceptibility IAGP DNA:polymorphism: : RGD PMID:20162297 RGD:8693343 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:polymorphism: :677C>T(human) RGD PMID:20162297 RGD:8693343 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
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 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
Ensembl chr19:1,039,997...1,065,572
JBrowse link
G ACO2 aconitase 2 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr22:41,468,756...41,528,979
Ensembl chr22:41,469,117...41,528,989
JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:26539208, PMID:29181157, PMID:32219868 NCBI chr18:12,328,944...12,377,309
Ensembl chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G ANO5 anoctamin 5 IAGP 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 chr11:22,192,485...22,283,357
Ensembl chr11:21,799,934...22,283,357
JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 8:1,823,926...1,958,641
Ensembl chr 8:1,823,926...1,958,641
JBrowse link
G ATP8A2 ATPase phospholipid transporting 8A2 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr13:25,371,974...26,025,851
Ensembl chr13:25,371,974...26,025,851
JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 1:156,308,968...156,338,292
Ensembl chr 1:156,308,968...156,367,873
JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP 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 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
JBrowse link
G CYRIA CYFIP related Rac1 interactor A IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 2:16,549,459...16,665,834
Ensembl chr 2:16,549,459...16,666,331
JBrowse link
G DDX1 DEAD-box helicase 1 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 2:15,591,868...15,631,101
Ensembl chr 2:15,591,178...15,631,111
JBrowse link
G DNM1L dynamin 1 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr12:32,679,296...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G GBA glucosylceramidase beta IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:27817865, PMID:32313153 NCBI chr 1:29,192,657...29,230,948
Ensembl chr 1:29,192,657...29,230,942
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:28027978 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr17:18,108,756...18,180,244
Ensembl chr17:18,108,706...18,179,802
JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 1:9,942,923...9,996,884
Ensembl chr 1:9,943,428...9,985,501
JBrowse link
G OAT ornithine aminotransferase IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:30311386 NCBI chr10:124,397,303...124,418,923
Ensembl chr10:124,397,303...124,418,976
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP
ISS
DNA:splice-site mutation, insertion:intron:c.579_580insTT, c.871-1G>T (human)
ClinVar Annotator: match by term: Optic atrophy
OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708
ClinVar
MouseDO
PMID:17722006, PMID:21636302, PMID:25012220, PMID:25741868, PMID:28492532, PMID:30311386, PMID:16735988 RGD:7800714 NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29261713, PMID:29720203, PMID:30311386 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
G POLR3H RNA polymerase III subunit H IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:130,110,633...130,184,873
Ensembl chr  X:130,171,962...130,184,870
JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 2:108,719,446...108,785,809
Ensembl chr 2:108,719,482...108,785,809
JBrowse link
G RPL24 ribosomal protein L24 ISS OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 MouseDO NCBI chr 3:101,681,091...101,686,718
Ensembl chr 3:101,681,091...101,686,718
JBrowse link
G SLBP stem-loop binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 4:1,692,731...1,715,876
Ensembl chr 4:1,692,731...1,712,344
JBrowse link
G SLC25A46 solute carrier family 25 member 46 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26168012 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161
JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271
JBrowse link
G TBCD tubulin folding cofactor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr17:82,752,048...82,945,914
Ensembl chr17:82,752,065...82,945,914
JBrowse link
G TBK1 TANK binding kinase 1 IAGP ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr12:64,452,105...64,502,114
Ensembl chr12:64,452,092...64,502,114
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP DNA:missense mutation:cds:p.R456H (rs1801206) (human)
ClinVar Annotator: match by term: Optic atrophy
ClinVar PMID:30311386, PMID:23595122 RGD:8694404 NCBI chr 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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
IAGP
EXP
DNA:nonsense mutation:exon:p.Q285X (mouse)
ClinVar Annotator: match by term: Dominant hereditary optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Autosomal Dominant
ClinVar Annotator: match by term: Optic Atrophy, Dominant
ClinVar Annotator: match by term: Optic Atrophy Type 1
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron:c.1065+5G>A (mouse)
DNA:mutations:multiple
DNA:duplication:exons, introns:g.194832822_194840568dup (human)
DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple
DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human)
DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple
DNA:SNPs, deletions:exons:multiple
ClinVar
CTD
OMIM
PMID:9490303, PMID:9917792, PMID:11017079, PMID:11017080, PMID:11440988, PMID:11440989, PMID:11735024, PMID:11810270, PMID:12036970, PMID:12842213, PMID:14961560, PMID:15505825, PMID:15948788, PMID:16513463, PMID:16617242, PMID:16785854, PMID:17188070, PMID:17722006, PMID:18222991, PMID:18496845, PMID:19029523, PMID:19319978, PMID:19581274, PMID:19900585, PMID:20157015, PMID:20417568, PMID:20659957, PMID:20801516, PMID:20952381, PMID:21203403, PMID:21538838, PMID:21636302, PMID:21646330, PMID:22042570, PMID:22857269, PMID:23250881, PMID:23384603, PMID:23401657, PMID:23409176, PMID:24907432, PMID:25012220, PMID:25326637, PMID:25564500, PMID:25641387, PMID:25699009, PMID:25741868, PMID:25794858, PMID:26206283, PMID:26385429, PMID:26467025, PMID:27656661, PMID:28492532, PMID:28812649, PMID:28926202, PMID:30311386, PMID:17428816, PMID:17314202, PMID:23401657, PMID:20546606, PMID:16513463, PMID:19112530, PMID:17306754, PMID:16617242 RGD:7800686, RGD:7800716, RGD:7800715, RGD:7800709, RGD:7800708, RGD:7800706, RGD:7800704, RGD:7800699 NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G OPA1-AS1 OPA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Optic Atrophy Type 1
ClinVar Annotator: match by term: Dominant hereditary optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Dominant
ClinVar PMID:11440988, PMID:15948788, PMID:16617242, PMID:19029523, PMID:19581274, PMID:25741868, PMID:26467025 NCBI chr 3:193,618,599...193,627,332
Ensembl chr 3:193,618,609...193,627,337
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,427...45,602,212
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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 IAGP ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures ClinVar
OMIM
PMID:26593267, PMID:29181510 NCBI chr 6:106,559,237...106,630,921
Ensembl chr 6:106,570,771...106,629,498
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 IAGP ClinVar Annotator: match by term: Optic atrophy 11 ClinVar
OMIM
PMID:27495975 NCBI chr10:27,110,111...27,155,051
Ensembl chr10:27,110,111...27,155,266
Ensembl chr10:27,110,111...27,155,266
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 IAGP ClinVar Annotator: match by term: OPTIC ATROPHY 12 OMIM
ClinVar
PMID:26539208, PMID:29181157, PMID:32219868, PMID:32600459 NCBI chr18:12,328,944...12,377,309
Ensembl chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
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 IAGP ClinVar Annotator: match by term: Optic atrophy and cataract, autosomal dominant ClinVar
OMIM
PMID:15342707, PMID:24136862, PMID:25159689, PMID:25205859, PMID:25741868, PMID:28081242, PMID:28492532 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,427...45,602,212
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 IAGP ClinVar Annotator: match by term: Optic atrophy 5 ClinVar
OMIM
PMID:15364948, PMID:15635063, PMID:17460227, PMID:20696759, PMID:25741868, PMID:26604000, PMID:26825290, PMID:26931468, PMID:26992161, PMID:27145208, PMID:27328748, PMID:28492532, PMID:28969390, PMID:29877124, PMID:30850373 NCBI chr12:32,679,296...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 IAGP 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 chr12:32,725,247...32,756,458
Ensembl chr12:32,727,490...32,755,897
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 IAGP ClinVar Annotator: match by term: Optic atrophy 7 ClinVar
OMIM
PMID:19327736, PMID:20405026, PMID:22815638, PMID:25741868, PMID:28492532 NCBI chr11:85,647,967...85,656,542
Ensembl chr11:85,647,967...85,656,547
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 IAGP ClinVar Annotator: match by term: Optic atrophy 9 ClinVar
OMIM
PMID:25351951, PMID:25741868, PMID:28492532 NCBI chr22:41,468,756...41,528,979
Ensembl chr22:41,469,117...41,528,989
JBrowse link
G POLR3H RNA polymerase III subunit H IAGP ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:25351951 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
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 IAGP ClinVar Annotator: match by term: Optic nerve aplasia, bilateral ClinVar PMID:12721955 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
JBrowse link
G NF1 neurofibromin 1 susceptibility IAGP associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma
ClinVar PMID:25741868, PMID:28492532, PMID:29483232, PMID:21278392 RGD:12789442 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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 IAGP 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 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G SOX2-OT SOX2 overlapping transcript IAGP 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 3:181,056,680...181,742,228
Ensembl chr 3:180,989,762...181,836,880
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 chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G AMIGO3 adhesion molecule with Ig like domain 3 treatment ISO RGD PMID:23613963 RGD:14390159 NCBI chr 3:49,716,829...49,719,684
Ensembl chr 3:49,716,829...49,719,684
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:20216911 RGD:2326035 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G AQP9 aquaporin 9 ISO RGD PMID:20216911 RGD:2326035 NCBI chr15:58,138,169...58,185,911
Ensembl chr15:58,138,169...58,185,911
JBrowse link
G ARG2 arginase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708
JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:10366744 RGD:10047417 NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BDNF brain derived neurotrophic factor treatment IDA
ISO
RGD PMID:15140649, PMID:9520478, PMID:11050383 RGD:8655584, RGD:8655637, RGD:8655586 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G C3 complement C3 ISO mRNA:increased expression:optic nerve RGD PMID:14577867 RGD:5129542 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CDK2 cyclin dependent kinase 2 ISO mRNA:increased expression:retina RGD PMID:16723461 RGD:2293567 NCBI chr12:55,966,830...55,972,789
Ensembl chr12:55,966,781...55,972,789
JBrowse link
G CFL1 cofilin 1 treatment ISO RGD PMID:27443501 RGD:11568693 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
JBrowse link
G CLU clusterin ISO RGD PMID:14577867 RGD:5129542 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA RGD PMID:20144610 RGD:11039471 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CTSB cathepsin B ISO protein:increased expression:retina (rat) RGD PMID:18775855 RGD:2315508 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,448
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EDNRA endothelin receptor type A ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
JBrowse link
G EDNRB endothelin receptor type B ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G EP300 E1A binding protein p300 ISO
IMP
protein:decreased expression:retinal ganglion cell layer (rat)
human gene in rat model
RGD PMID:21705428, PMID:21705428 RGD:7349392, RGD:7349392 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G FGF2 fibroblast growth factor 2 treatment IMP RGD PMID:14664816 RGD:8554854 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:15144875 RGD:6218970 NCBI chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO RGD PMID:15144875 RGD:6218970 NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,273,467
JBrowse link
G GFRA2 GDNF family receptor alpha 2 ISO RGD PMID:15144875 RGD:6218970 NCBI chr 8:21,690,398...21,789,296
Ensembl chr 8:21,690,398...21,812,357
JBrowse link
G HGF hepatocyte growth factor treatment IDA RGD PMID:21443522 RGD:8548549 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
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:5686431, RGD:10046025 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:10366744 RGD:10047417 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,780,791...58,784,047
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:20216911 RGD:2326035 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO mRNA:increased expression:retina RGD PMID:12076086 RGD:8662362 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28032230 RGD:13781885 NCBI chr 7:106,248,298...106,284,983
Ensembl chr 7:106,248,298...106,286,326
JBrowse link
G NEFM neurofilament medium ISO RGD PMID:8501527 RGD:9743936 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
JBrowse link
G NEO1 neogenin 1 ISO protein:increased expression:retina RGD PMID:21887516 RGD:9850142 NCBI chr15:73,051,715...73,305,206
Ensembl chr15:73,051,710...73,305,205
JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:20943663 RGD:5508695 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:20943663 RGD:5508695 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,640...156,881,850
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO RGD PMID:20357199 RGD:5684908 NCBI chr 9:84,668,458...85,027,070
Ensembl chr 9:84,668,551...85,027,070
JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA:increased expression:retina: RGD PMID:12836167 RGD:1299297 NCBI chr12:79,584,879...79,691,097
Ensembl chr12:79,574,979...79,690,964
JBrowse link
G PAX6 paired box 6 ISO protein:increased expression:retina (rat) RGD PMID:23297010 RGD:8552379 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:decreased expression:nerve fiber: RGD PMID:9893812 RGD:10449496 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:optic nerve (rat) RGD PMID:22336118 RGD:6767293 NCBI chr17:64,319,415...64,413,844
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G PLAU plasminogen activator, urokinase ISO mRNA:increased expression:optic nerve (rat) RGD PMID:20798533 RGD:6483802 NCBI chr10:73,909,182...73,917,497
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 ISO protein:increased expression:retina (rat) RGD PMID:15555919 RGD:9835027 NCBI chr11:18,727,928...18,792,721
Ensembl chr11:18,727,928...18,792,721
JBrowse link
G RHOA ras homolog family member A ISO protein:increased expression, altered localization:retina RGD PMID:17534117 RGD:1642826 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,145...49,412,998
JBrowse link
G SNW1 SNW domain containing 1 ISO protein:increased expression:retina (rat) RGD PMID:25074585 RGD:11035254 NCBI chr14:77,717,599...77,761,156
Ensembl chr14:77,717,599...77,761,207
JBrowse link
G TLR4 toll like receptor 4 ISO protein:increased expression:optic nerve RGD PMID:23103505 RGD:7794777 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:18552980, PMID:14697498 RGD:7794683, RGD:8661743 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TRADD TNFRSF1A associated via death domain ISO protein:increased expression: retina RGD PMID:18552980 RGD:7794683 NCBI chr16:67,154,185...67,159,909
Ensembl chr16:67,154,185...67,159,909
JBrowse link
G YBX3 Y-box binding protein 3 ISO mRNA:increased expression:retinal ganglion cell RGD PMID:11750989 RGD:2311250 NCBI chr12:10,699,084...10,723,442
Ensembl chr12:10,699,089...10,723,323
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 IDA RGD PMID:23024849, PMID:22157536 RGD:8696036, RGD:9685553 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G CAPN1 calpain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23860028 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006
JBrowse link
G CAT catalase treatment IDA associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:18055782 RGD:9068881 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCR5 C-C motif chemokine receptor 5 IEP RGD PMID:11966770 RGD:8551840 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,854...46,376,206
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 chr15:75,674,322...75,712,848
Ensembl chr15:75,674,322...75,712,848
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP DNA:deletion, haplotype:cds (human) RGD PMID:19286687 RGD:5148007 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion, haplotype:cds (human) RGD PMID:19286687 RGD:5148007
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:9006417 RGD:7483596 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IMP associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:22167100 RGD:7365050 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G MOG myelin oligodendrocyte glycoprotein IDA
ISO
RGD PMID:22157536, PMID:23860028 RGD:9685553, RGD:9685554 NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372
JBrowse link
G NEFH neurofilament heavy severity IEP protein:increased expression:serum: RGD PMID:29085182, PMID:15258226 RGD:27226813, RGD:27226814 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G SOD2 superoxide dismutase 2 IDA
ISO
associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:17251466, PMID:17251466 RGD:8158052, RGD:8158052 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
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 IAGP ClinVar Annotator: match by term: Peho-like syndrome ClinVar PMID:26917597 NCBI chr 2:55,287,817...55,419,856
Ensembl chr 2:55,287,842...55,419,895
JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G KIF1A kinesin family member 1A IAGP 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 chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP ClinVar Annotator: match by term: PEHO syndrome OMIM
ClinVar
PMID:25741868, PMID:28335020, PMID:31048081 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310
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 IAGP ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar
OMIM
PMID:25741868, PMID:27666369 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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 IAGP ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
JBrowse link
G C12orf29 chromosome 12 open reading frame 29 IAGP ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160
JBrowse link
G CEP290 centrosomal protein 290 IAGP
IEA
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:25741868, PMID:28492532 NCBI chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G IQCB1 IQ motif containing B1 IAGP
IEA
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar Annotator: match by term: Senior Loken syndrome
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
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 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079
JBrowse link
G NPHP1 nephrocystin 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loken-Senior syndrome
CTD
ClinVar
PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G NPHP4 nephrocystin 4 IAGP
IEA
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:28492532 NCBI chr 1:5,862,810...5,992,425
Ensembl chr 1:5,862,811...5,992,473
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP
IEA
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
NCBI chr 1:243,255,418...243,503,683
Ensembl chr 1:243,256,034...243,500,091
JBrowse link
G TMEM218 transmembrane protein 218 ISS OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr11:125,094,389...125,111,759
Ensembl chr11:125,096,545...125,111,763
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Senior Loken syndrome ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,816
JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Senior Loken syndrome ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
JBrowse link
G WDR19 WD repeat domain 19 IAGP DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 1 OMIM
ClinVar
PMID:8852662, PMID:9326933, PMID:9856524, PMID:10712196, PMID:15138899, PMID:16155189, PMID:24746959, PMID:25741868, PMID:27491411, PMID:28492532, PMID:28624958, PMID:30311386 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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 IAGP OMIM NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,414
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 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 4 ClinVar
OMIM
PMID:1248184, PMID:6837691, PMID:11920287, PMID:12205563, PMID:15776426, PMID:17855640, PMID:21068128, PMID:21546380, PMID:22550138, PMID:22773737, PMID:23167750, PMID:23188109, PMID:24033266, PMID:25445212, PMID:25472526, PMID:25741868, PMID:26346198, PMID:26920127, PMID:27004616, PMID:28492532, PMID:29127258 NCBI chr 1:5,862,810...5,992,425
Ensembl chr 1:5,862,811...5,992,473
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 IAGP DNA:frameshift mutations, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Senior-Loken syndrome 5
ClinVar
OMIM
PMID:15723066, PMID:18076122, PMID:20881296, PMID:21220633, PMID:21245082, PMID:21866095, PMID:22183348, PMID:22261762, PMID:22773737, PMID:23188109, PMID:23446637, PMID:23559409, PMID:23847139, PMID:24066033, PMID:24625443, PMID:25741868, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28832562, PMID:29053603, PMID:30718709, PMID:15723066 RGD:11537383 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079
JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf29 chromosome 12 open reading frame 29 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160
JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar
OMIM
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17564967, PMID:17964524, PMID:18414213, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:27353947, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386, PMID:30718709 NCBI chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
Ensembl chr12:88,049,016...88,142,099
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 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
JBrowse link
G CEP170 centrosomal protein 170 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:243,124,428...243,255,796
Ensembl chr 1:243,124,428...243,255,348
JBrowse link
G LINC01347 long intergenic non-protein coding RNA 1347 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:243,056,314...243,101,744
Ensembl chr 1:243,056,307...243,101,744
JBrowse link
G LOC110120698 VISTA enhancer hs545 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:243,713,165...243,714,591 JBrowse link
G MIR4677 microRNA 4677 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:243,346,176...243,346,255
Ensembl chr 1:243,346,176...243,346,255
JBrowse link
G PLD5 phospholipase D family member 5 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:242,082,986...242,530,546
Ensembl chr 1:242,082,986...242,524,697
Ensembl chr 1:242,082,986...242,524,697
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar
OMIM
PMID:20835237, PMID:21866095, PMID:22190896, PMID:22626039, PMID:23188109, PMID:25741868, PMID:28492532 NCBI chr 1:243,255,418...243,503,683
Ensembl chr 1:243,256,034...243,500,091
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 IAGP ClinVar Annotator: match by term: Senior-loken syndrome 8
ClinVar Annotator: match by term: Senior-Loken syndrome 8
ClinVar
OMIM
PMID:22019273, PMID:23559409, PMID:23683095, PMID:25726036, PMID:25741868, PMID:26260382, PMID:26275793, PMID:27241786, PMID:27596865, PMID:28492532, PMID:28621010, PMID:28973083, PMID:29068549 NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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 IAGP ClinVar Annotator: match by term: Senior-loken syndrome 9 ClinVar
OMIM
PMID:26487268 NCBI chr 2:238,320,489...238,400,900
Ensembl chr 2:238,320,441...238,400,897
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 IAGP ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly ClinVar
OMIM
PMID:20577004, PMID:24884844, PMID:25741868, PMID:26073778, PMID:26541327, PMID:27789416, PMID:28031453, PMID:28115293, PMID:28425089, PMID:28492532 NCBI chr 2:14,998,067...15,561,344
Ensembl chr 2:15,166,914...15,561,334
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 IAGP DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) RGD PMID:22022284 RGD:11532672 NCBI chr18:12,328,944...12,377,309
Ensembl chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868, PMID:26467025 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,978...133,071,863
Ensembl chr 9:133,061,978...133,071,863
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr17:4,988,130...5,006,093
Ensembl chr17:4,988,130...4,997,610
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:76,869,602...77,637,969
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G KIF1C kinesin family member 1C IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:17564970, PMID:19177532, PMID:19201763, PMID:21990111, PMID:25439737, PMID:28492532, PMID:30311386 NCBI chr 4:127,917,732...127,965,988
Ensembl chr 4:127,917,732...127,966,034
Ensembl chr 4:127,917,732...127,966,034
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:11222789, PMID:14985266, PMID:16534102, PMID:17661097, PMID:18200586, PMID:18799786, PMID:19841671, PMID:20186691, PMID:20981092, PMID:21623769, PMID:22554690, PMID:22571692, PMID:22964162, PMID:23065789, PMID:23269439, PMID:23733235, PMID:23812641, PMID:24033266, PMID:24727571, PMID:24731568, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25681447, PMID:25714468, PMID:25741868, PMID:25976027, PMID:26094131, PMID:26260707, PMID:26374131, PMID:26467025, PMID:26506339, PMID:26626314, PMID:26671083, PMID:26756429, PMID:27016405, PMID:27084228, PMID:27165006, PMID:27181684, PMID:27217339, PMID:27260292, PMID:27957547, PMID:28362824, PMID:28492532, PMID:28608987, PMID:28832565, PMID:29026558, PMID:29057857, PMID:30311386, PMID:32581362 NCBI chr16:89,508,379...89,557,768
Ensembl chr16:89,490,719...89,557,766
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 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant ClinVar PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr12:6,451,656...6,472,006
Ensembl chr12:6,451,690...6,466,517
JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant OMIM
ClinVar
PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,987
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17orf107 chromosome 17 open reading frame 107 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,899,536...4,902,934
Ensembl chr17:4,899,418...4,902,934
JBrowse link
G CAMTA2 calmodulin binding transcription activator 2 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,967,993...4,988,281
Ensembl chr17:4,967,992...4,987,675
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,897,771...4,905,019
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G ENO3 enolase 3 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,949,182...4,957,131
Ensembl chr17:4,948,092...4,957,131
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:28492532, PMID:28832565 NCBI chr17:4,988,130...5,006,093
Ensembl chr17:4,988,130...4,997,610
JBrowse link
G KIF1C kinesin family member 1C IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar
OMIM
PMID:17273843, PMID:24088041, PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:26633545, PMID:28492532, PMID:28687974, PMID:28832565 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
JBrowse link
G PFN1 profilin 1 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
JBrowse link
G RNF167 ring finger protein 167 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,940,092...4,945,222
Ensembl chr17:4,940,008...4,945,222
JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,937,130...4,940,251
Ensembl chr17:4,937,130...4,940,053
JBrowse link
G SPAG7 sperm associated antigen 7 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,959,226...4,967,817
Ensembl chr17:4,959,226...4,967,817
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 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive ClinVar
OMIM
PMID:22448145, PMID:25741868 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471, PMID:21450511, PMID:24033266, PMID:24180463 NCBI chr13:23,328,827...23,433,728
Ensembl chr13:23,328,826...23,433,740
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 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 4, autosomal recessive ClinVar
OMIM
PMID:20970105, PMID:25008111, PMID:25741868, PMID:26467025 NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448
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 IAGP ClinVar Annotator: match by term: Spastic ataxia 5, autosomal recessive ClinVar
OMIM
PMID:22022284, PMID:25401298, PMID:25741868, PMID:32219868 NCBI chr18:12,328,944...12,377,309
Ensembl chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
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 IAGP ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY OMIM
ClinVar
PMID:25741868, PMID:28575651, PMID:30285346 NCBI chr10:132,782,229...132,786,147
Ensembl chr10:132,783,179...132,786,147
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 IAGP OMIM NCBI chr15:41,231,156...41,281,887
Ensembl chr15:41,230,839...41,281,887
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 IAGP ClinVar Annotator: match by term: Spastic paraplegia, optic atrophy, and neuropathy ClinVar
OMIM
PMID:24482476, PMID:26385635 NCBI chr11:66,257,288...66,267,860
Ensembl chr11:66,257,294...66,267,860
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 IAGP
EXP
ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,542,237
Ensembl chr10:27,504,174...27,542,237
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP
EXP
ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:26467025 NCBI chr 2:135,052,281...135,176,667
Ensembl chr 2:135,052,265...135,176,394
Ensembl chr 2:135,052,265...135,176,394
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP
EXP
ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,453
JBrowse link
G TBC1D20 TBC1 domain family member 20 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:435,480...462,543
Ensembl chr20:435,480...462,543
JBrowse link
G ZRANB3 zinc finger RANBP2-type containing 3 IAGP ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr 2:135,164,218...135,531,218
Ensembl chr 2:135,136,916...135,531,218
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 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar
OMIM
PMID:8249951, PMID:8958326, PMID:10465117, PMID:15216543, PMID:15696165, PMID:17351351, PMID:18286824, PMID:18414213, PMID:20512159, PMID:20584031, PMID:23420520, PMID:25326635, PMID:25741868, PMID:26138576, PMID:26421802, PMID:26467025, PMID:26852512, PMID:28492532, PMID:29300443, PMID:31319225 NCBI chr 2:135,052,281...135,176,667
Ensembl chr 2:135,052,265...135,176,394
Ensembl chr 2:135,052,265...135,176,394
JBrowse link
G ZRANB3 zinc finger RANBP2-type containing 3 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar PMID:15696165, PMID:25741868, PMID:26138576, PMID:26467025, PMID:28492532, PMID:29300443 NCBI chr 2:135,164,218...135,531,218
Ensembl chr 2:135,136,916...135,531,218
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 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 2 ClinVar
OMIM
PMID:20967465, PMID:23420520, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29300443 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,453
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 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 3 ClinVar
OMIM
PMID:21473985, PMID:23420520, PMID:25741868, PMID:28492532, PMID:29300443 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,542,237
Ensembl chr10:27,504,174...27,542,237
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 IAGP ClinVar Annotator: match by term: Warburg micro syndrome 4 ClinVar
OMIM
PMID:24239381, PMID:25741868 NCBI chr20:435,480...462,543
Ensembl chr20:435,480...462,543
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP
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
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, PMID:9771706 RGD:1599813 NCBI chr 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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 IAGP ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 OMIM
ClinVar
PMID:10679252, PMID:10760554, PMID:11161832, PMID:11317350, PMID:12107816, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:17492394, PMID:17517145, PMID:18414213, PMID:20738327, PMID:21446023, PMID:21602428, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23990876, PMID:24033266, PMID:25133958, PMID:25388789, PMID:25741868, PMID:27185633, PMID:28492532, PMID:28590052 NCBI chr 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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
IAGP
EXP
ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar
CTD
OMIM
PMID:10739754, PMID:17846994, PMID:24705017, PMID:25056293, PMID:25371195, PMID:29237418, PMID:19451219, PMID:17846994 RGD:10045601, RGD:10045603 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
JBrowse link
G SLC9B1 solute carrier family 9 member B1 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr 4:102,885,049...103,019,705
Ensembl chr 4:102,885,048...103,019,719
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18830
    sensory system disease 5661
      eye disease 2928
        optic nerve disease 250
          Leber hereditary optic neuropathy + 28
          Optic Nerve Aplasia, Bilateral 1
          Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 2
          Optic Nerve Injuries 46
          Roifman-Chitayat Syndrome 0
          Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
          anterior ischemic optic neuropathy + 11
          bilateral optic nerve hypoplasia 1
          chiasmal syndrome 0
          low tension glaucoma 16
          optic atrophy + 141
          optic disk drusen + 4
          optic nerve neoplasm + 2
          optic neuritis + 39
          papilledema + 0
          pseudopapilledema 0
Path 2
Term Annotations click to browse term
  disease 18830
    disease of anatomical entity 17318
      nervous system disease 13394
        peripheral nervous system disease 2673
          neuropathy 2491
            cranial nerve disease 516
              optic nerve disease 250
                Leber hereditary optic neuropathy + 28
                Optic Nerve Aplasia, Bilateral 1
                Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 2
                Optic Nerve Injuries 46
                Roifman-Chitayat Syndrome 0
                Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
                anterior ischemic optic neuropathy + 11
                bilateral optic nerve hypoplasia 1
                chiasmal syndrome 0
                low tension glaucoma 16
                optic atrophy + 141
                optic disk drusen + 4
                optic nerve neoplasm + 2
                optic neuritis + 39
                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.