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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 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:26539208 PMID:29181157 PMID:32219868 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Cyria CYFIP related Rac1 interactor A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:35,045,208...35,150,669
Ensembl chr 6:35,045,208...35,150,668 		JBrowse link
G Ddx1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365 		JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		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 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863 		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 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		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
RGD		 PMID:25741868 PMID:16735988 RGD:7800714 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Rpl24 ribosomal protein L24 ISS OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 MouseDO NCBI chr11:44,653,937...44,659,346
Ensembl chr11:44,653,937...44,659,370 		JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168012 NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutation:cds:p.R456H (rs1801206) (human) RGD PMID:23595122 RGD:8694404 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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 More... NCBI chr 1:78,881,392...78,899,549
Ensembl chr 1:78,880,114...78,901,469 		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 Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		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 chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658 		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: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by OMIM:614296		 OMIM
ClinVar		 PMID:10679252 PMID:11295831 PMID:15605410 PMID:16648378 PMID:17492394 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		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 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162 		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:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More... NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123 		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 2:7,907,504...7,908,738 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 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521 		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
RGD		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:20576601 More... RGD:11576280 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		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:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		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 chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964 		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:9892370 PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia		 ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148 		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 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909 		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
RGD		 PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:97,717,932...97,721,918
Ensembl chr  X:97,717,920...97,721,960 		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: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
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 Annotator: match by OMIM:125250		 OMIM
ClinVar		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		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 PMID:33401012 NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863 		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 ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849 		JBrowse link
GAPO syndrome 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
RGD		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... RGD:9684854 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232 		JBrowse link
Halperin-Birk Syndrome 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 Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies		 ClinVar
OMIM		 PMID:25741868 PMID:30464055 NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273 		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:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694 		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 1:144,422,698...144,430,730
Ensembl chr 1:144,422,703...144,430,628 		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 More... NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		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 PMID:28492532 PMID:28545339 More... NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778 		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 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Ephx1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670 PMID:17011878 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619 		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 hereditary optic neuropathy
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.8668T>C, p.W48R (human)		 ClinVar
CTD
RGD		 PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7668837 More... 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 More... 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 hereditary optic neuropathy
ClinVar Annotator: match by term: Leber's optic atrophy		 CTD
ClinVar		 PMID:7573056 PMID:7804416 PMID:8037217 PMID:8240356 PMID:20301353 More... 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 hereditary optic neuropathy
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 More... 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 hereditary optic neuropathy
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
ClinVar Annotator: match by term: Optic atrophy, Leber type
ClinVar Annotator: match by term: Leber's optic atrophy
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
RGD		 PMID:1417830 PMID:1442494 PMID:1550131 PMID:1674640 PMID:1732158 More... 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)
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000		 ClinVar
CTD
RGD		 PMID:1732158 PMID:1900003 PMID:11479733 PMID:20301353 PMID:30143805 More... 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 hereditary optic neuropathy
ClinVar Annotator: match by term: Leber optic atrophy and dystonia		 ClinVar
RGD		 PMID:12227465 PMID:17152068 PMID:17413873 PMID:19458970 PMID:20301353 More... 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 hereditary optic neuropathy
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
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
RGD		 PMID:1346348 PMID:1352537 PMID:1417830 PMID:1469456 PMID:1734726 More... 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 hereditary optic neuropathy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)		 ClinVar
CTD
RGD		 PMID:8680405 PMID:11935318 PMID:20301353 PMID:30143805 PMID:19394449 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
ClinVar Annotator: match by term: Leber's optic atrophy
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		 CTD
ClinVar
RGD		 PMID:1417830 PMID:1732158 PMID:1764087 PMID:1900003 PMID:8213825 More... 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 hereditary optic neuropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
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
RGD		 PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 More... 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 chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420 		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 chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Leber's optic atrophy OMIM
ClinVar		 PMID:32516135 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy ClinVar PMID:28492532 NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753 PMID:17011878 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:15293270 PMID:12601034 RGD:8158101, RGD:8158104 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tp53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISS MouseDO NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
MITOCHONDRIAL DNA DEPLETION SYNDROME 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) ClinVar NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) ClinVar
OMIM		 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy
ClinVar Annotator: match by term: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY		 OMIM
ClinVar		 PMID:8967754 PMID:10976639 PMID:24033266 PMID:25741868 PMID:27683074 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE ClinVar
OMIM		 PMID:25741868 PMID:33465056 NCBI chr12:21,628,323...21,629,389
Ensembl chr12:21,626,450...21,629,408 		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: Kjer-type optic atrophy
ClinVar Annotator: match by term: Optic atrophy, juvenile
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
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
RGD		 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 More... RGD:7800716, RGD:7800715, RGD:7800709, RGD:7800708, RGD:7800706, RGD:7800704, RGD:7800699, RGD:7800686 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chr 1:78,881,392...78,899,549
Ensembl chr 1:78,880,114...78,901,469 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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 with or without ataxia, mental retardation, and seizures OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338 		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 Annotator: match by term: Optic atrophy 11		 ClinVar
OMIM		 PMID:25741868 PMID:27495975 NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335 		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
ClinVar Annotator: match by term: OPTIC ATROPHY 12		 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:26539208 PMID:29181157 PMID:32219868 More... NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Optic atrophy 12 ClinVar PMID:25741868 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418 		JBrowse link
Optic Atrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ssbp1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: Optic atrophy with negative electroretinograms OMIM
ClinVar		 PMID:25741868 PMID:31298765 PMID:31550237 PMID:31550240 NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135 		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 3
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 More... NCBI chr 1:78,881,392...78,899,549
Ensembl chr 1:78,880,114...78,901,469 		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:15635063 PMID:20696759 PMID:25741868 PMID:26604000 PMID:27145208 More... NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Optic atrophy 5 ClinVar PMID:20696759 PMID:25741868 PMID:26604000 PMID:27145208 PMID:28492532 More... NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125 		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 1:144,422,698...144,430,730
Ensembl chr 1:144,422,703...144,430,628 		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 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: OPTIC ATROPHY 9
ClinVar Annotator: match by term: Optic atrophy 9		 ClinVar PMID:25351951 PMID:25741868 NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778 		JBrowse link
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME 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: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ClinVar PMID:25741868 PMID:32165824 NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658 		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 Annotator: match by term: PEHO-like syndrome		 ClinVar PMID:25741868 PMID:26917597 PMID:28492532 NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		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 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		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 chr10:69,775,885...69,790,471
Ensembl chr10:69,780,210...69,790,446 		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 chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		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 chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		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 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392 		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 More... NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Nphp1 nephrocystin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		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 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706 		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 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		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 chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Tmem218 transmembrane protein 218 ISS OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Senior Loken syndrome
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia		 ClinVar PMID:18414213 PMID:20301500 PMID:21258341 PMID:24876116 PMID:25741868 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		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:9536098 PMID:9856524 PMID:10620543 More... NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		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:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706 		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
RGD		 PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... RGD:11537383 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093 		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:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		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:20835237 PMID:22190896 PMID:25640679 PMID:28492532 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226 		JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868 		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:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 More... NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		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:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027800 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		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
ClinVar Annotator: match by term: Senior-loken syndrome 9		 OMIM
ClinVar		 PMID:25741868 PMID:26487268 PMID:28492532 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		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)
ClinVar Annotator: match by term: Spastic ataxia		 ClinVar
RGD		 PMID:25741868 PMID:22022284 RGD:11532672 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More... NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More... NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		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 chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:36,906,771...37,169,191
Ensembl chr 3:36,910,427...37,168,944 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360 		JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:33704555 NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr10:2,416,259...2,448,364 JBrowse link
G Exosc8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:138,930,405...138,937,009
Ensembl chr 2:138,930,405...138,936,928 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:32576985 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr10:55,401,982...55,414,364
Ensembl chr10:55,401,982...55,414,114 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr15:302,078...1,001,198
Ensembl chr15:302,214...1,001,198 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:90,873,542...90,887,205
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:86,241,384...86,443,501 JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More... NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048 		JBrowse link
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16240363 PMID:25741868 PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:94,537,088...94,848,085 JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:15605410 PMID:24033266 PMID:25741868 PMID:30311386 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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 4:158,021,454...158,028,905 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 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349 		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 chr10:55,383,450...55,401,838
Ensembl chr10:55,383,450...55,401,558 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		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:9536098 PMID:17576681 PMID:24319291 PMID:24482476 PMID:24808017 More... NCBI chr10:55,401,982...55,414,364
Ensembl chr10:55,401,982...55,414,114 		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:9536098 PMID:17273843 PMID:17576681 PMID:24088041 PMID:24319291 More... NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927 		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 chr10:55,358,163...55,360,278
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,377,249...55,383,404
Ensembl chr10:55,377,249...55,383,404 		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 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820 		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 chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		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 chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538 		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:26467025 PMID:27165006 More... NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Spastic ataxia 5, autosomal recessive ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418 		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
ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY		 OMIM
ClinVar		 PMID:25741868 PMID:28575651 PMID:30285346 PMID:32860008 NCBI chr 1:194,380,149...194,383,533
Ensembl chr 1:194,381,975...194,383,515 		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 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251 		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:25741868 PMID:26385635 NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672 		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 chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043 		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 chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		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		 PMID:28492532 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		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:15216543 PMID:15696165 PMID:17351351 PMID:18286824 More... NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		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 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		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 chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043 		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 PMID:32740904 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		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: Wolfram syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1161832 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 More... RGD:1599813 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1		 OMIM
ClinVar		 PMID:1161832 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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
RGD		 PMID:10739754 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 More... RGD:10045603, RGD:10045601 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946 		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 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        optic nerve disease 270
          optic atrophy 165
            3-methylglutaconic aciduria type 3 1
            ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
            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 1
            Halperin-Birk Syndrome 1
            Hereditary Optic Atrophies + 64
            MITOCHONDRIAL DNA DEPLETION SYNDROME 16B 2
            Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 0
            Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 1
            OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME 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 + 4
            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 + 79
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            cranial nerve disease 484
              optic nerve disease 270
                optic atrophy 165
                  3-methylglutaconic aciduria type 3 1
                  ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
                  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 1
                  Halperin-Birk Syndrome 1
                  Hereditary Optic Atrophies + 64
                  MITOCHONDRIAL DNA DEPLETION SYNDROME 16B 2
                  Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 0
                  Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 1
                  OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME 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 + 4
                  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 + 79
paths to the root