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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 atrophy
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Accession:DOID:5723 term browser browse the term
Definition:Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
Synonyms:exact_synonym: atrophy of optic disc
 primary_id: MESH:D009896
 xref: ICD10CM:H47.2;   ICD9CM:377.1;   NCI:C34863;   OMIM:PS165500;   ORDO:98673
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
optic atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:26539208, PMID:29181157, PMID:32219868 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr16:79,725,629...79,817,065
Ensembl chr16:79,725,643...79,793,619
JBrowse link
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 2:187,669,051...187,693,610
Ensembl chr 2:187,668,796...187,693,610
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:10508521, PMID:15024725, PMID:20956273, PMID:22968130, PMID:23449718, PMID:24715753, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Cyria CYFIP related Rac1 interactor A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:37,555,167...37,661,196
Ensembl chr 6:37,555,182...37,665,064
JBrowse link
G Ddx1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:38,422,892...38,453,762
Ensembl chr 6:38,422,888...38,453,797
JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:27817865, PMID:32313153 NCBI chr 5:150,001,281...150,027,407
Ensembl chr 5:150,001,281...150,027,049
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:28027978 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO
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 chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29261713, PMID:29720203, PMID:30311386 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Rpl24 ribosomal protein L24 ISS OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 MouseDO NCBI chr11:47,116,885...47,122,093
Ensembl chr11:47,116,886...47,122,095
JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr14:82,356,916...82,366,368
Ensembl chr14:82,356,916...82,366,368
JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168012 NCBI chr18:24,369,104...24,397,412
Ensembl chr18:24,369,125...24,397,551
JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 3:119,640,324...119,669,651
Ensembl chr 3:119,640,298...119,669,639
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutation:cds:p.R456H (rs1801206) (human)
ClinVar Annotator: match by term: Optic atrophy
ClinVar PMID:30311386, PMID:23595122 RGD:8694404 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:258501
OMIM
ClinVar
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 chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:28965846 NCBI chr10:103,817,724...103,826,413
Ensembl chr10:103,817,704...103,826,448
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
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 chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO 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 chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam172a family with sequence similarity 172, member A ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:4,942,795...5,547,744
Ensembl chr 2:4,942,775...5,545,144
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome
ClinVar Annotator: match by OMIM:615722
OMIM
ClinVar
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 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
JBrowse link
G Pou5f2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:5,437,067...5,438,301
Ensembl chr 2:5,437,067...5,438,301
JBrowse link
G RGD1560883 similar to KIAA0825 protein ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:4,195,871...4,755,065
Ensembl chr 2:4,195,917...4,754,318
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO 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 chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5
ClinVar Annotator: match by OMIM:311070
OMIM
ClinVar
PMID:17701900, PMID:24285972, PMID:25182139, PMID:25491489, PMID:28492532 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
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 chr10:59,259,955...59,331,669
Ensembl chr10:59,259,955...59,331,669
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by OMIM:270550
OMIM
ClinVar
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 chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE OMIM
ClinVar
PMID:28097321, PMID:31855247 NCBI chr 5:70,243,643...70,424,115
Ensembl chr 5:70,245,843...70,424,112
JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
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:105,351,714...105,355,722
Ensembl chr  X:105,352,402...105,355,716
JBrowse link
dominant optic atrophy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Autosomal dominant optic atrophy plus syndrome
ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
ClinVar Annotator: match by OMIM:125250
OMIM
ClinVar
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 chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
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 5:150,001,281...150,027,407
Ensembl chr 5:150,001,281...150,027,049
JBrowse link
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdx2 ferredoxin 2 ISO OMIM NCBI chr 8:22,086,534...22,091,450
Ensembl chr 8:22,086,534...22,091,450
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:16155110, PMID:25741868, PMID:30311386 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:25741868, PMID:26541337, PMID:29327420, PMID:29923093, PMID:30237576 NCBI chr16:20,962,144...21,000,191
Ensembl chr16:20,962,227...20,985,225
JBrowse link
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO 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 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
JBrowse link
Hereditary Optic Atrophies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO RGD PMID:9722958 RGD:734690 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8662757, PMID:11695835 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10072046 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic Atrophy, Recessive ClinVar NCBI chr 1:156,283,105...156,291,057
Ensembl chr 1:156,283,128...156,291,052
JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
ClinVar Annotator: match by OMIM:614559
OMIM
ClinVar
PMID:22405087, PMID:24088041, PMID:25351951, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30689204, PMID:32214227 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041, PMID:25351951, PMID:25741868 NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
JBrowse link
Leber hereditary optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18061280 RGD:5685659 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Ephx1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224
JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670, PMID:17011878 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility ISO 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
ClinVar Annotator: match by OMIM:535000
DNA:transition:CDS:c.8668T>C, p.W48R (human)
ClinVar
CTD
PMID:7726182, PMID:19026397, PMID:20454697 RGD:5490293, RGD:5508187 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's optic atrophy
CTD
ClinVar
PMID:7573056, PMID:7804416, PMID:8037217, PMID:8240356, PMID:25741868, PMID:30311386 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by OMIM:535000
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:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO 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
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 (human)
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:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:transversion:CDS:c.4852T>A, p.L128Q (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000
CTD
ClinVar
PMID:1732158, PMID:1900003, PMID:11479733, PMID:20454697 RGD:5508187 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA: mutation
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar PMID:12227465, PMID:17152068, PMID:17413873, PMID:19458970, PMID:19458970 RGD:5508703 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:mutation:exon:p.R340H(human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
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:12436196, PMID:16364244 RGD:1581057, RGD:5508187, RGD:5507829, RGD:5491183, RGD:1581059, RGD:1581058 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO 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:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000
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:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:SNP, haplotypes: :m.14484T>C (human)
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
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:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:25741868 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) RGD PMID:20407791, PMID:20711738 RGD:12902617, RGD:12902618 NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753, PMID:17011878 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:15293270, PMID:12601034 RGD:8158101, RGD:8158104 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tp53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:30311386 NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842
JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia ClinVar PMID:17152068, PMID:17413873, PMID:19458970 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
Leber plus disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leber plus disease ClinVar PMID:25741868 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES ClinVar
OMIM
PMID:30464055 NCBI chr14:10,854,713...10,909,579
Ensembl chr14:10,854,682...10,909,612
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 ClinVar Annotator: match by term: Dominant hereditary optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Dominant
ClinVar Annotator: match by term: Optic Atrophy Type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:165500
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
DNA:nonsense mutation:exon:p.Q285X (mouse)
OMIM
ClinVar
CTD
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:17314202, PMID:23401657, PMID:20546606, PMID:16513463, PMID:19112530, PMID:17306754, PMID:16617242, PMID:17428816 RGD:7800716, RGD:7800715, RGD:7800709, RGD:7800708, RGD:7800706, RGD:7800704, RGD:7800699, RGD:7800686 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
optic atrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Optic atrophy 10
ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures
ClinVar
OMIM
PMID:26593267, PMID:29181510 NCBI chr20:48,881,124...48,924,921
Ensembl chr20:48,881,194...48,925,081
JBrowse link
optic atrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: OPTIC ATROPHY 11 ClinVar
OMIM
PMID:27495975 NCBI chr17:89,701,899...89,741,919
Ensembl chr17:89,704,102...89,741,321
JBrowse link
Optic Atrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 12 OMIM
ClinVar
PMID:26539208, PMID:29181157, PMID:32219868, PMID:32600459 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
optic atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic atrophy and cataract, autosomal dominant
ClinVar Annotator: match by OMIM:165300
OMIM
ClinVar
PMID:15342707, PMID:24136862, PMID:25159689, PMID:25205859, PMID:25741868, PMID:28081242, PMID:28492532 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
optic atrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO 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 chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Optic atrophy 5 ClinVar PMID:15364948, PMID:17460227, PMID:20696759, PMID:25741868, PMID:26604000, PMID:26825290, PMID:26931468, PMID:26992161, PMID:27145208, PMID:27328748, PMID:28492532, PMID:29877124, PMID:30850373 NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377
JBrowse link
optic atrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic atrophy 7
ClinVar Annotator: match by OMIM:612989
OMIM
ClinVar
PMID:19327736, PMID:20405026, PMID:22815638, PMID:25741868, PMID:28492532 NCBI chr 1:156,283,105...156,291,057
Ensembl chr 1:156,283,128...156,291,052
JBrowse link
optic atrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Optic atrophy 9
ClinVar Annotator: match by term: OPTIC ATROPHY 9
OMIM
ClinVar
PMID:25351951, PMID:25741868, PMID:28492532 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: OPTIC ATROPHY 9 ClinVar PMID:25351951 NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: Peho-like syndrome ClinVar PMID:26917597 NCBI chr14:113,771,093...113,936,376
Ensembl chr14:113,867,209...113,932,263
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300, PMID:25253658, PMID:25265257, PMID:25741868, PMID:26125038, PMID:26486474, PMID:28492532, PMID:31805580 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO ClinVar Annotator: match by term: PEHO syndrome OMIM
ClinVar
PMID:25741868, PMID:28335020, PMID:31048081 NCBI chr10:72,227,710...72,235,932
Ensembl chr10:72,228,222...72,235,888
JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
ClinVar
OMIM
PMID:25741868, PMID:27666369 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
Senior-Loken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Cep290 centrosomal protein 290 ISO
ISS
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 chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Iqcb1 IQ motif containing B1 ISO
ISS
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 chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
JBrowse link
G Nphp1 nephrocystin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loken-Senior syndrome
CTD
ClinVar
PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Nphp4 nephrocystin 4 ISO
ISS
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 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO
ISS
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 chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
JBrowse link
G Tmem218 transmembrane protein 218 ISS OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Senior Loken syndrome ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
Senior-Loken Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp1 nephrocystin 1 ISO 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 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
Senior-Loken Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO OMIM NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 4
ClinVar Annotator: match by OMIM:606996
OMIM
ClinVar
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 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
Senior-Loken Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 5
DNA:frameshift mutations, nonsense mutations:exon:multiple
ClinVar Annotator: match by OMIM:609254
OMIM
ClinVar
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 chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6
ClinVar Annotator: match by OMIM:610189
OMIM
ClinVar
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 chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
Senior-Loken Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:94,807,090...94,887,448
Ensembl chr13:94,807,756...94,859,436
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:94,025,696...94,355,219
Ensembl chr13:94,025,369...94,355,219
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar Annotator: match by OMIM:613615
OMIM
ClinVar
PMID:20835237, PMID:21866095, PMID:22190896, PMID:22626039, PMID:23188109, PMID:25741868, PMID:28492532 NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
JBrowse link
Senior-Loken Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 8
ClinVar Annotator: match by term: Senior-loken syndrome 8
OMIM
ClinVar
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 chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
Senior-Loken Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Senior-loken syndrome 9 OMIM
ClinVar
PMID:26487268 NCBI chr 9:98,621,499...98,658,223
Ensembl chr 9:98,621,506...98,656,901
JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) RGD PMID:22022284 RGD:11532672 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868, PMID:26467025 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:17564970, PMID:19177532, PMID:19201763, PMID:21990111, PMID:25439737, PMID:28492532, PMID:30311386 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant ClinVar PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant OMIM
ClinVar
PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,291,192...57,309,638
Ensembl chr10:57,291,192...57,309,298
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,278,271...57,283,661
Ensembl chr10:57,278,307...57,283,653
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:28492532, PMID:28832565 NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar Annotator: match by OMIM:611302
OMIM
ClinVar
PMID:17273843, PMID:24088041, PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:26633545, PMID:28492532, PMID:28687974, PMID:28832565 NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,268,331...57,272,667
Ensembl chr10:57,268,375...57,272,660
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:57,284,989...57,291,146
Ensembl chr10:57,284,989...57,291,146
JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive
ClinVar Annotator: match by OMIM:611390
OMIM
ClinVar
PMID:22448145, PMID:25741868 NCBI chr 9:64,434,814...64,437,730
Ensembl chr 9:64,434,904...64,436,664
Ensembl chr 9:64,434,904...64,436,664
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471, PMID:21450511, PMID:24033266, PMID:24180463 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Ataxia, spastic, 4, autosomal recessive
ClinVar Annotator: match by OMIM:613672
OMIM
ClinVar
PMID:20970105, PMID:25008111, PMID:25741868, PMID:26467025 NCBI chr17:56,046,507...56,068,185
Ensembl chr17:56,046,509...56,068,125
JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5, autosomal recessive
ClinVar Annotator: match by OMIM:614487
OMIM
ClinVar
PMID:22022284, PMID:25401298, PMID:25741868, PMID:32219868 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY OMIM
ClinVar
PMID:25741868, PMID:28575651, PMID:30285346 NCBI chr 1:211,922,389...211,923,929
Ensembl chr 1:211,922,389...211,923,929
JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chp1 calcineurin-like EF-hand protein 1 ISO OMIM NCBI chr 3:111,354,506...111,389,998
Ensembl chr 3:111,354,506...111,389,989
JBrowse link
SPOAN syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, optic atrophy, and neuropathy ClinVar
OMIM
PMID:24482476, PMID:26385635 NCBI chr 1:220,492,174...220,502,397
Ensembl chr 1:220,492,176...220,502,272
JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by OMIM:600118
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar
CTD
PMID:25741868, PMID:26467025 NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO 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 chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar PMID:15696165, PMID:25741868, PMID:26138576, PMID:26467025, PMID:28492532, PMID:29300443 NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome 2
ClinVar Annotator: match by OMIM:614225
OMIM
ClinVar
PMID:20967465, PMID:23420520, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29300443 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome 3
ClinVar Annotator: match by OMIM:614222
OMIM
ClinVar
PMID:21473985, PMID:23420520, PMID:25741868, PMID:28492532, PMID:29300443 NCBI chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: Warburg micro syndrome 4
ClinVar Annotator: match by OMIM:615663
OMIM
ClinVar
PMID:24239381, PMID:25741868 NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by OMIM:222300
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 chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO 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 chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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 ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar Annotator: match by OMIM:604928
OMIM
ClinVar
CTD
PMID:10739754, PMID:17846994, PMID:24705017, PMID:25056293, PMID:25371195, PMID:29237418, PMID:17846994, PMID:19451219 RGD:10045603, RGD:10045601 NCBI chr 2:240,586,754...240,611,560
Ensembl chr 2:240,586,754...240,611,560
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        optic nerve disease 240
          optic atrophy 131
            3-methylglutaconic aciduria type 3 1
            ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 0
            Al Gazali Khidr Prem Chandran Syndrome 0
            Al Gazali Sabrinathan Nair Syndrome 0
            Behr syndrome 1
            CAPOS Syndrome 1
            Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 1
            DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 1
            Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 3
            Hereditary Optic Atrophies + 62
            Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 0
            NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES 1
            Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 0
            PEHO syndrome 4
            Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
            SPOAN syndrome 1
            Silengo Lerone Pelizza Syndrome 0
            Treft Sanborn Carey Syndrome 0
            Warburg micro syndrome + 5
            X-Linked Mental Retardation Gustavson Type 0
            deafness-dystonia-optic neuronopathy syndrome 1
            glaucomatous atrophy of optic disc 0
            infantile cerebellar-retinal degeneration 2
            partial optic atrophy 0
            primary optic atrophy 0
            spastic ataxia + 26
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            cranial nerve disease 472
              optic nerve disease 240
                optic atrophy 131
                  3-methylglutaconic aciduria type 3 1
                  ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 0
                  Al Gazali Khidr Prem Chandran Syndrome 0
                  Al Gazali Sabrinathan Nair Syndrome 0
                  Behr syndrome 1
                  CAPOS Syndrome 1
                  Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 1
                  DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 1
                  Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 3
                  Hereditary Optic Atrophies + 62
                  Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 0
                  NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES 1
                  Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 0
                  PEHO syndrome 4
                  Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
                  SPOAN syndrome 1
                  Silengo Lerone Pelizza Syndrome 0
                  Treft Sanborn Carey Syndrome 0
                  Warburg micro syndrome + 5
                  X-Linked Mental Retardation Gustavson Type 0
                  deafness-dystonia-optic neuronopathy syndrome 1
                  glaucomatous atrophy of optic disc 0
                  infantile cerebellar-retinal degeneration 2
                  partial optic atrophy 0
                  primary optic atrophy 0
                  spastic ataxia + 26
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.