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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:Hereditary Optic Atrophies
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Accession:DOID:9005850 term browser browse the term
Definition:Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
Synonyms:exact_synonym: Hereditary Optic Atrophy
 narrow_synonym: AUTOSOMAL RECESSIVE OPTIC ATROPHY;   OPTIC ATROPHY, RECESSIVE
 xref: MESH:D015418;   MONDO:0043878;   NCI:C34864

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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:38,704,623...39,121,309 JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive optic atrophy ClinVar PMID:10951519 PMID:11328726 PMID:16199547 PMID:25741868 PMID:28492532 NCBI chr16:7,391,260...7,407,549
Ensembl chr16:7,392,419...7,406,305 		JBrowse link
G TMEM126A transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic Atrophy, Recessive ClinVar NCBI chr 1:76,888,688...76,897,883
Ensembl chr 1:76,888,734...76,897,841 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr21:18,551,273...18,688,889
Ensembl chr21:18,553,446...18,688,525 		JBrowse link
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 OMIM
ClinVar		 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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 ARB2A ARB2 cotranscriptional regulator A ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 4:87,499,061...87,978,159 JBrowse link
G KIAA0825 KIAA0825 ortholog ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 4:88,018,026...88,499,287
Ensembl chr 4:88,238,022...88,422,215 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM
ClinVar		 PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More... NCBI chr 4:87,463,514...87,475,900
Ensembl chr 4:87,466,249...87,475,112 		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 4:87,625,754...87,629,124
Ensembl chr 4:87,626,124...87,627,110 		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 disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy OMIM
ClinVar		 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chr  X:95,452,481...95,475,933 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 susceptibility ISO ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | 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
OMIM		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102 		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 ClinVar Annotator: match by term: GAPO syndrome ClinVar
OMIM		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... NCBI chr14:37,849,911...38,116,339
Ensembl chr14:37,877,436...38,115,938 		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 1:108,186,627...108,190,508
Ensembl chr 1:108,186,921...108,189,698 		JBrowse link
G EPHX1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670 PMID:17011878 NCBI chr 7:101,297,114...101,304,675
Ensembl chr 7:101,297,691...101,302,520 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:25741868 NCBI chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704 		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 chr15:5,536,556...5,589,522
Ensembl chr15:5,536,610...5,590,825 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:32516135 NCBI chr  X:46,271,001...46,286,440
Ensembl chr  X:46,266,985...46,283,689 		JBrowse link
G RDH12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr24:44,957,854...44,971,855
Ensembl chr24:44,959,921...44,971,836 		JBrowse link
G RP1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:28492532 NCBI chr 8:50,743,699...50,837,089
Ensembl chr 8:50,627,957...50,685,911
Ensembl chr 8:50,627,957...50,685,911 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753 PMID:17011878 NCBI chr20:64,662,777...64,684,178
Ensembl chr20:64,664,358...64,683,211 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr29:21,769,366...21,822,346
Ensembl chr29:21,762,809...21,822,249 		JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:12601034 PMID:15293270 RGD:8158101 RGD:8158104 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G TP53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 OMIM
ClinVar		 PMID:25741868 PMID:28031252 PMID:28492532 NCBI chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704 		JBrowse link
Leber Optic Atrophy, Susceptibility To 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: LHON, MODIFIER OF ClinVar PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chr28:9,383,068...9,385,590
Ensembl chr28:9,383,095...9,383,775 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO OMIM NCBI chr  X:46,271,001...46,286,440
Ensembl chr  X:46,266,985...46,283,689 		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 2:42,670,613...42,706,341
Ensembl chr 2:42,670,421...42,711,024 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO MouseDO NCBI chr  X:46,271,001...46,286,440
Ensembl chr  X:46,266,985...46,283,689 		JBrowse link
Multiple mitochondrial dysfunctions syndrome 9A 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 Annotator: match by term: FDXR-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A OMIM
ClinVar		 PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More... NCBI chr16:46,785,669...46,796,154
Ensembl chr16:46,785,591...46,796,187 		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 Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 38 OMIM
ClinVar		 PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chr28:9,383,068...9,385,590
Ensembl chr28:9,383,095...9,383,775 		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 susceptibility ISO ClinVar Annotator: match by term: Dominant hereditary optic atrophy | ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile ClinVar
OMIM		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 More... NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chr 6:38,974,455...39,032,780
Ensembl chr 6:39,001,467...39,032,347 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr13:67,188,707...67,243,288
Ensembl chr13:67,189,318...67,243,925 		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 OMIM
ClinVar		 PMID:25741868 PMID:27495975 PMID:28492532 NCBI chr 9:26,703,747...26,752,274
Ensembl chr 9:26,703,992...26,752,340 		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:25741868 PMID:26467025 PMID:26539208 PMID:26633542 PMID:28449981 More... NCBI chr18:70,890,939...70,939,504
Ensembl chr18:70,891,554...70,939,352 		JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Optic atrophy 12 ClinVar PMID:25741868 NCBI chr18:70,870,576...70,888,560
Ensembl chr18:70,870,566...70,888,099 		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 13 with retinal and foveal abnormalities OMIM
ClinVar		 PMID:25741868 PMID:31298765 PMID:31550237 PMID:31550240 PMID:36909829 NCBI chr21:110,492,340...110,504,176
Ensembl chr21:110,492,377...110,504,177 		JBrowse link
Optic Atrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIEF1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Optic atrophy 14 OMIM
ClinVar		 PMID:33632269 NCBI chr19:22,072,217...22,087,577
Ensembl chr19:22,081,838...22,085,527 		JBrowse link
Optic Atrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCAT malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Optic atrophy 15 OMIM
ClinVar		 PMID:33918393 NCBI chr19:25,647,290...25,671,239
Ensembl chr19:25,659,856...25,670,894 		JBrowse link
Optic Atrophy 16 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: Optic atrophy 16 OMIM
ClinVar		 PMID:25741868 PMID:27817865 PMID:28492532 PMID:31137067 PMID:32313153 More... NCBI chr20:103,591,944...103,630,253
Ensembl chr20:103,591,944...103,629,102 		JBrowse link
optic atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Optic atrophy 2 ClinVar NCBI chr  X:46,183,278...46,188,564
Ensembl chr  X:46,183,443...46,188,536 		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, cataract, and neurologic disorder OMIM
ClinVar		 PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 More... NCBI chr 6:38,974,455...39,032,780
Ensembl chr 6:39,001,467...39,032,347 		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 OMIM
ClinVar		 PMID:15635063 PMID:16199547 PMID:20696759 PMID:25741868 PMID:26604000 More... NCBI chr11:32,114,642...32,178,330
Ensembl chr11:32,114,675...32,177,661 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Optic atrophy 5 ClinVar PMID:25741868 NCBI chr11:32,181,214...32,192,654
Ensembl chr11:32,181,397...32,192,454 		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 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7 OMIM
ClinVar		 PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 More... NCBI chr 1:76,888,688...76,897,883
Ensembl chr 1:76,888,734...76,897,841 		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: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 OMIM
ClinVar		 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:27528516 More... NCBI chr19:24,008,602...24,068,346
Ensembl chr19:24,008,667...24,071,356 		JBrowse link
G POLR3H RNA polymerase III subunit H ISO ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 More... NCBI chr19:24,068,205...24,082,648
Ensembl chr19:24,068,826...24,082,611 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 More... NCBI chr16:72,192,559...72,203,230
Ensembl chr16:72,190,310...72,203,130 		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 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar PMID:25741868 NCBI chr25:72,614,998...72,677,383
Ensembl chr25:72,611,475...72,677,356 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar		 PMID:12389028 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 More... NCBI chr25:72,544,942...72,616,716
Ensembl chr25:72,545,012...72,612,622 		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 chr25:80,509,701...80,878,792
Ensembl chr25:80,515,168...80,816,018 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:83,420,911...83,515,466
Ensembl chr11:83,412,379...83,514,596 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chr22:59,025,265...59,097,930
Ensembl chr22:59,025,261...59,098,138 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr14:13,520,573...13,589,980
Ensembl chr14:13,520,541...13,589,146 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr20:125,739,075...125,878,088
Ensembl chr20:125,744,295...125,874,482 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr11:83,407,413...83,422,055
Ensembl chr11:83,407,474...83,422,277 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr25:80,263,691...80,510,069
Ensembl chr25:80,264,274...80,509,765 		JBrowse link
G TMEM218 transmembrane protein 218 ISO OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 1:116,257,539...116,272,815
Ensembl chr 1:116,257,158...116,272,859 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr10:51,365,156...51,449,207
Ensembl chr10:51,364,889...51,449,183 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 More... NCBI chr27:11,019,897...11,113,760
Ensembl chr27:11,018,827...11,113,666 		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 chr14:13,520,573...13,589,980
Ensembl chr14:13,520,541...13,589,146 		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 OMIM
ClinVar		 PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr20:125,739,075...125,878,088
Ensembl chr20:125,744,295...125,874,482 		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 OMIM
ClinVar		 PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More... NCBI chr22:59,025,265...59,097,930
Ensembl chr22:59,025,261...59,098,138 		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 OMIM
ClinVar		 PMID:9536098 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 More... NCBI chr11:83,420,911...83,515,466
Ensembl chr11:83,412,379...83,514,596 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr11:83,407,413...83,422,055
Ensembl chr11:83,407,474...83,422,277 		JBrowse link
Senior-Loken Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS2 adenylosuccinate synthase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr25:81,441,792...81,485,344
Ensembl chr25:81,442,787...81,485,292 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 More... NCBI chr25:80,509,701...80,878,792
Ensembl chr25:80,515,168...80,816,018 		JBrowse link
G CATSPERE catsper channel auxiliary subunit epsilon ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr25:81,495,617...81,656,357
Ensembl chr25:81,495,613...81,655,934 		JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:22190896 PMID:28492532 NCBI chr25:80,135,967...80,263,764
Ensembl chr25:80,134,657...80,214,464 		JBrowse link
G COX20 COX20, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr25:81,861,673...81,869,597
Ensembl chr25:81,862,035...81,869,506 		JBrowse link
G DESI2 desumoylating isopeptidase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr25:81,670,135...81,733,696
Ensembl chr25:81,670,170...81,733,812 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr25:81,879,532...81,890,684
Ensembl chr25:81,878,111...81,890,701 		JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:28492532 NCBI chr25:79,164,501...79,584,632
Ensembl chr25:79,171,369...79,519,763 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 More... NCBI chr25:80,263,691...80,510,069
Ensembl chr25:80,264,274...80,509,765 		JBrowse link
G SPMIP3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr25:81,382,374...81,422,483
Ensembl chr25:81,393,609...81,422,366 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr25:81,077,011...81,085,049 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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 More... NCBI chr27:11,019,897...11,113,760
Ensembl chr27:11,018,827...11,113,666 		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:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chr10:124,348,763...124,428,522
Ensembl chr10:124,348,916...124,429,716 		JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome ClinVar PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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 OMIM
ClinVar		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chr 7:50,968,061...50,988,725
Ensembl chr 7:50,968,111...50,988,714 		JBrowse link
G CISD3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr16:67,462,038...67,465,843
Ensembl chr16:67,458,472...67,465,572 		JBrowse link
G PCGF2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr16:67,447,181...67,461,829
Ensembl chr16:67,455,292...67,460,509 		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 PMID:25741868 PMID:28492532 NCBI chr 7:51,011,569...51,125,675 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    sensory system disease 6897
      eye disease 3549
        Hereditary Eye Diseases 1088
          Hereditary Optic Atrophies 70
            Berk-Tabatznik Syndrome 0
            Bosch-Boonstra-Schaaf optic atrophy syndrome 4
            Charcot-Marie-Tooth disease X-linked recessive 5 1
            Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 0
            GAPO syndrome 1
            Hagemoser Weinstein Bresnick Syndrome 0
            Konigsmark Knox Hussels Syndrome 0
            Leber hereditary optic neuropathy + 16
            Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 0
            Multiple mitochondrial dysfunctions syndrome 9A 1
            Optic Atrophy 13 1
            Optic Atrophy 14 1
            Optic Atrophy 15 1
            Optic Atrophy 16 1
            Optic Atrophy Spastic Paraplegia Syndrome 0
            Optic Atrophy with Demyelinating Disease of CNS 0
            Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 0
            Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
            Senior-Loken syndrome + 20
            Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
            Spastic Paraplegia, Optic Atrophy, and Dementia 0
            Subacute Necrotizing Encephalomyelopathy of Leigh, Adult 0
            Wolfram syndrome + 6
            dominant optic atrophy plus syndrome 1
            optic atrophy 1 3
            optic atrophy 10 1
            optic atrophy 11 1
            optic atrophy 12 2
            optic atrophy 2 1
            optic atrophy 3 1
            optic atrophy 4 0
            optic atrophy 5 2
            optic atrophy 6 0
            optic atrophy 7 1
            optic atrophy 8 0
            optic atrophy 9 3
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13212
        Neurologic Manifestations 9795
          sensory system disease 6897
            eye disease 3549
              optic nerve disease 354
                optic atrophy 179
                  Hereditary Optic Atrophies 70
                    Berk-Tabatznik Syndrome 0
                    Bosch-Boonstra-Schaaf optic atrophy syndrome 4
                    Charcot-Marie-Tooth disease X-linked recessive 5 1
                    Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 0
                    GAPO syndrome 1
                    Hagemoser Weinstein Bresnick Syndrome 0
                    Konigsmark Knox Hussels Syndrome 0
                    Leber hereditary optic neuropathy + 16
                    Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 0
                    Multiple mitochondrial dysfunctions syndrome 9A 1
                    Optic Atrophy 13 1
                    Optic Atrophy 14 1
                    Optic Atrophy 15 1
                    Optic Atrophy 16 1
                    Optic Atrophy Spastic Paraplegia Syndrome 0
                    Optic Atrophy with Demyelinating Disease of CNS 0
                    Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 0
                    Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
                    Senior-Loken syndrome + 20
                    Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                    Spastic Paraplegia, Optic Atrophy, and Dementia 0
                    Subacute Necrotizing Encephalomyelopathy of Leigh, Adult 0
                    Wolfram syndrome + 6
                    dominant optic atrophy plus syndrome 1
                    optic atrophy 1 3
                    optic atrophy 10 1
                    optic atrophy 11 1
                    optic atrophy 12 2
                    optic atrophy 2 1
                    optic atrophy 3 1
                    optic atrophy 4 0
                    optic atrophy 5 2
                    optic atrophy 6 0
                    optic atrophy 7 1
                    optic atrophy 8 0
                    optic atrophy 9 3
paths to the root