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
Accession: DOID:9005850
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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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
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Gucy2e
guanylate cyclase 2E
ISO
ClinVar Annotator: match by term: Autosomal recessive optic atrophy
ClinVar
PMID:10951519 PMID:11328726 PMID:16199547 PMID:25741868 PMID:28492532
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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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 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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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 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Tmem126a
transmembrane protein 126A
ISO
ClinVar Annotator: match by term: Optic Atrophy, Recessive
ClinVar
NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628
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Cdk13
cyclin-dependent kinase 13
ISO
ClinVar Annotator: match by term: Wolfram-like disorder
ClinVar
PMID:25741868 PMID:28492532 PMID:33879837
NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:19877185 PMID:20028947 PMID:20069065 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:23373429 PMID:23429432 PMID:23981289 PMID:24033266 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25326637 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30577886 PMID:30773290 PMID:31264968 PMID:31313226 PMID:31343797 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34356170 PMID:34445196 PMID:34556497 PMID:34746052 PMID:34837038 PMID:35206658 PMID:35469785 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 PMID:37508961 PMID:37510321 More...
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Arb2a
ARB2 cotranscriptional regulator 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
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Kiaa0825
KIAA0825 homolog
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
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Nr2f1
nuclear receptor subfamily 2, group F, member 1
ISO ISS
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM:615722
OMIM ClinVar MouseDO
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:25741879 PMID:26138355 PMID:26350515 PMID:26986877 PMID:28492532 PMID:28963436 PMID:29410510 PMID:30755392 PMID:31393201 PMID:31729143 PMID:32275123 PMID:32407885 PMID:32712214 PMID:34466801 More...
NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
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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
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 PMID:32781272 PMID:33493137 More...
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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Opa1
OPA1, mitochondrial dynamin like GTPase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism 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
CTD OMIM ClinVar
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:12488262 PMID:12566046 PMID:14644237 PMID:14961560 PMID:15505825 PMID:15531309 PMID:16158427 PMID:16240368 PMID:16513463 PMID:16698014 PMID:17167772 PMID:17188070 PMID:17306754 PMID:17722006 PMID:17724190 PMID:18065439 PMID:18158317 PMID:18195150 PMID:18204809 PMID:18222991 PMID:18496845 PMID:19029523 PMID:19303950 PMID:19319978 PMID:19900585 PMID:20157015 PMID:20185555 PMID:20301426 PMID:20417568 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21112924 PMID:21636302 PMID:21646330 PMID:21745197 PMID:22042570 PMID:22433900 PMID:22779427 PMID:22857269 PMID:23250881 PMID:23388408 PMID:23401657 PMID:23916084 PMID:24798923 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25564500 PMID:25641387 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:26867657 PMID:27165006 PMID:27290639 PMID:27696015 PMID:27858935 PMID:27890673 PMID:28125838 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28848318 PMID:28926202 PMID:28981474 PMID:29111013 PMID:29389947 PMID:30293569 PMID:30972688 PMID:31500643 PMID:31521625 PMID:31589614 PMID:31609081 PMID:31673222 PMID:31781369 PMID:31782039 PMID:31816670 PMID:32025183 PMID:32040484 PMID:32141364 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32420686 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34008892 PMID:34242285 PMID:34426522 PMID:34732400 PMID:34758253 PMID:35741767 PMID:37091313 PMID:37196654 PMID:39033378 More...
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Antxr1
ANTXR cell adhesion molecule 1
ISO
DNA:missense mutations:cds:c.505C>T,c.262C>T (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GAPO syndrome
OMIM CTD ClinVar RGD
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 PMID:25741868 PMID:28492532 PMID:23602711 More...
RGD:9684854
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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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
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Ephx1
epoxide hydrolase 1
onset
ISO
DNA:missense mutation:cds:p.Y113H (human)
RGD
PMID:15838728
RGD:5688732
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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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
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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
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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
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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 optic atrophy | 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:3612192 PMID:7668837 PMID:7726182 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8554662 PMID:8602753 PMID:8644724 PMID:8739943 PMID:8750605 PMID:9199572 PMID:9221962 PMID:9270604 PMID:9329425 PMID:9501263 PMID:9556461 PMID:9568930 PMID:9631394 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11119722 PMID:11245730 PMID:11371515 PMID:11382202 PMID:11730668 PMID:11731285 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:12915481 PMID:14998933 PMID:15466014 PMID:15972314 PMID:16049925 PMID:16217706 PMID:16849371 PMID:17352390 PMID:17452590 PMID:17663470 PMID:18055910 PMID:18461509 PMID:19160410 PMID:19454486 PMID:19626676 PMID:19667215 PMID:19875463 PMID:20056103 PMID:20301353 PMID:21364701 PMID:22577227 PMID:22789932 PMID:22933740 PMID:23206802 PMID:24002810 PMID:24088041 PMID:25037980 PMID:25741868 PMID:26633545 PMID:27450679 PMID:27812026 PMID:29350304 PMID:29602698 PMID:30143805 PMID:31181185 PMID:31187502 PMID:31379041 PMID:31461494 PMID:32042921 PMID:32313153 PMID:32906214 PMID:35159298 PMID:19026397 PMID:20454697 More...
RGD:5490293 , RGD:5508187
NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Mt-atp8
mitochondrially encoded ATP synthase membrane subunit 8
ISO
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:15466014 PMID:15972314 PMID:16849371 PMID:17452590 PMID:19667215 PMID:19875463 PMID:21364701 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar
PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 PMID:1732158 PMID:2137962 PMID:8042671 PMID:8060346 PMID:8095070 PMID:8240356 PMID:8250532 PMID:8395787 PMID:8680405 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9742104 PMID:9883875 PMID:10577941 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:15466014 PMID:15972314 PMID:16152638 PMID:16849371 PMID:17452590 PMID:17659260 PMID:19667215 PMID:19875463 PMID:20301595 PMID:21364701 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Mt-co2
mitochondrially encoded cytochrome c oxidase II
ISO
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:15466014 PMID:15972314 PMID:16849371 PMID:17452590 PMID:19667215 PMID:19875463 PMID:21364701 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mt-co3
mitochondrially encoded cytochrome c oxidase III
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7573056 PMID:7804416 PMID:8037217 PMID:8042671 PMID:8095070 PMID:8240356 PMID:8250532 PMID:8395787 PMID:8739943 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:12915481 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:28027978 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 More...
NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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Mt-cyb
mitochondrially encoded cytochrome b
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD ClinVar
PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 PMID:8755941 PMID:11464242 PMID:11601507 PMID:20301353 PMID:23418307 PMID:25741868 PMID:30143805 PMID:32906214 More...
NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:snp:cds:m.3635G>A (human) ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's disease | 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:1436530 PMID:1442494 PMID:1539598 PMID:1550128 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:8496715 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:10976107 PMID:11076946 PMID:11371515 PMID:11479733 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11854175 PMID:11925565 PMID:12112111 PMID:14998933 PMID:15342361 PMID:15466014 PMID:15505787 PMID:15720387 PMID:15883259 PMID:15972314 PMID:16738010 PMID:16849371 PMID:16969869 PMID:17452590 PMID:17562939 PMID:17620555 PMID:18216301 PMID:19497304 PMID:19555656 PMID:19667215 PMID:19875463 PMID:20301353 PMID:21364701 PMID:22079202 PMID:22879922 PMID:24088041 PMID:24569607 PMID:24830958 PMID:24884847 PMID:25194554 PMID:25741868 PMID:26633545 PMID:27449621 PMID:27450679 PMID:29602698 PMID:29991444 PMID:30143805 PMID:32313153 PMID:32906214 PMID:35383288 PMID:11479733 PMID:12112111 PMID:22577081 PMID:2018041 PMID:19324017 PMID:20454697 More...
RGD:5508685 , RGD:8657118 , RGD:8657116 , RGD:5508712 , RGD:5508689 , RGD:5508187
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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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 optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 PMID:1900003 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11479733 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:15466014 PMID:15972314 PMID:16849371 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301353 PMID:21364701 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:20454697 More...
RGD:5508187
NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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Mt-nd3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
DNA: mutation ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:12227465 PMID:14998933 PMID:17152068 PMID:17413873 PMID:17452590 PMID:19458970 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:19458970 More...
RGD:5508703
NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
DNA:mutation:exon:p.R340H(human) ClinVar Annotator: match by term: Leber optic atrophy | 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:1436530 PMID:1469456 PMID:1539598 PMID:1550128 PMID:1734726 PMID:1763894 PMID:1770533 PMID:1770665 PMID:1866007 PMID:1900003 PMID:1937476 PMID:1959619 PMID:1959931 PMID:2039048 PMID:2137962 PMID:2286378 PMID:2346190 PMID:2346203 PMID:2390098 PMID:2566021 PMID:2566116 PMID:2575667 PMID:2817063 PMID:3201231 PMID:7763260 PMID:8042671 PMID:8095070 PMID:8101084 PMID:8240101 PMID:8240102 PMID:8250532 PMID:8395787 PMID:8448903 PMID:8449667 PMID:8457609 PMID:8474822 PMID:8489402 PMID:8489411 PMID:8644732 PMID:9150158 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:10976107 PMID:11076946 PMID:11169561 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11854175 PMID:11925565 PMID:12402249 PMID:12560876 PMID:12707444 PMID:14998933 PMID:15342361 PMID:16120329 PMID:16431939 PMID:16477364 PMID:16532388 PMID:17452590 PMID:18771762 PMID:19026397 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:24569607 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:3201231 PMID:20454697 PMID:18771762 PMID:19022198 PMID:12436196 PMID:16364244 More...
RGD:1581057 , RGD:5508187 , RGD:5507829 , RGD:5491183 , RGD:1581059 , RGD:1581058
NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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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 optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)
ClinVar CTD RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:8680405 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:11935318 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:19394449 PMID:11935318 More...
RGD:5686339 , RGD:5686341
NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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Mt-nd5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
ISO
ClinVar Annotator: match by term: Leber optic atrophy | 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:mutation: :m.13708G>A (human) DNA:mutation:exon:13042G>A (A236T) (human) DNA:mutation:exon:p.Y159H(human) DNA:mutation:: m.12338 T>C
ClinVar CTD RGD
PMID:1417830 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 PMID:1764087 PMID:1900003 PMID:2137962 PMID:7654063 PMID:8016139 PMID:8042671 PMID:8095070 PMID:8213825 PMID:8250532 PMID:8395787 PMID:8622678 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:10894222 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:11938446 PMID:12509858 PMID:12736867 PMID:14735585 PMID:14998933 PMID:15767514 PMID:16240359 PMID:16380132 PMID:16816025 PMID:17317336 PMID:17400793 PMID:17452590 PMID:17535832 PMID:18332249 PMID:18977334 PMID:19667215 PMID:19875463 PMID:20018511 PMID:20301353 PMID:21131053 PMID:22022272 PMID:22249460 PMID:22577219 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27164671 PMID:27450679 PMID:29602698 PMID:30143805 PMID:31669237 PMID:32313153 PMID:32906214 PMID:16240359 PMID:1732158 PMID:16816025 PMID:19022198 PMID:21131053 More...
RGD:1581060 , RGD:5507826 , RGD:5491202 , RGD:5491183 , RGD:5491172
NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO ISS
DNA:SNP, haplotypes: :m.14484T>C (human) OMIM:535000 ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia CTD Direct Evidence: marker/mechanism DNA:mutation: :m.13997G>A (p.P25L) (mouse) DNA:missense mutations, haplotypes:cds:multiple DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)
MouseDO ClinVar CTD RGD
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 PMID:8470982 PMID:8622678 PMID:8644732 PMID:8854108 PMID:9012411 PMID:9177303 PMID:9849804 PMID:10072046 PMID:10631164 PMID:10894222 PMID:11133798 PMID:12112086 PMID:12205655 PMID:12736867 PMID:12827453 PMID:14520668 PMID:14595656 PMID:14735585 PMID:15342361 PMID:15922297 PMID:15954041 PMID:16337195 PMID:16380132 PMID:18674747 PMID:20301353 PMID:24569607 PMID:25741868 PMID:29987491 PMID:30143805 PMID:31669237 PMID:32906214 PMID:35715829 PMID:23665487 PMID:23129651 PMID:24398099 PMID:19732751 More...
RGD:8657119 , RGD:8657127 , RGD:8657125 , RGD:8657123
NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Ndufs2
NADH:ubiquinone oxidoreductase core subunit S2
ISO
ClinVar Annotator: match by term: Leber optic atrophy
ClinVar
PMID:25741868
NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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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
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Prickle3
prickle planar cell polarity protein 3
ISO
ClinVar Annotator: match by term: Leber optic atrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:32516135
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
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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
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Rp1
RP1, axonemal microtubule associated
ISO
ClinVar Annotator: match by term: Leber optic atrophy
ClinVar
PMID:28492532
NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363
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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
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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
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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
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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
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Mt-nd3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies
ClinVar
PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868
NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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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 chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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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 PMID:37579815 More...
NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
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Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to
ClinVar
PMID:1346348 PMID:1352537 PMID:1417830 PMID:1734726 PMID:1763894 PMID:1770533 PMID:1770665 PMID:1866007 PMID:1900003 PMID:1937476 PMID:1959619 PMID:1959931 PMID:2039048 PMID:2286378 PMID:2346190 PMID:2346203 PMID:2390098 PMID:2566021 PMID:2566116 PMID:2575667 PMID:2817063 PMID:3201231 PMID:7763260 PMID:8101084 PMID:8240101 PMID:8240102 PMID:8448903 PMID:8449667 PMID:8457609 PMID:8474822 PMID:8489402 PMID:8489411 PMID:9150158 PMID:10976107 PMID:11169561 PMID:11854175 PMID:12402249 PMID:12560876 PMID:16431939 PMID:16477364 PMID:16532388 PMID:18771762 PMID:19026397 PMID:20301353 PMID:25741868 PMID:30143805 More...
NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Prickle3
prickle planar cell polarity protein 3
ISO
OMIM
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
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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
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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
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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 PMID:29040572 PMID:30250212 PMID:33348459 PMID:37046037 More...
NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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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 PMID:37579815 More...
NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
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Opa1
OPA1, mitochondrial dynamin like GTPase
susceptibility
ISO
DNA:nonsense mutation:exon:p.Q285X (mouse) 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 CTD Direct Evidence: marker/mechanism DNA:splice-site mutation:intron:c.1065+5G>A (mouse) DNA:mutations:multiple DNA:duplication:exons, introns:g.194832822_194840568dup (human) DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human) DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple DNA:SNPs, deletions:exons:multiple
OMIM ClinVar CTD RGD
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11735024 PMID:11810270 PMID:12036970 PMID:12488262 PMID:12566046 PMID:12842213 PMID:14644237 PMID:14961560 PMID:15505825 PMID:15531309 PMID:15948788 PMID:16158427 PMID:16199547 PMID:16240368 PMID:16513463 PMID:16617242 PMID:16785854 PMID:17167772 PMID:17188070 PMID:17251483 PMID:17306754 PMID:17576681 PMID:17722006 PMID:17724190 PMID:18065439 PMID:18158317 PMID:18222991 PMID:18360822 PMID:18496845 PMID:19029523 PMID:19319978 PMID:19581274 PMID:19900585 PMID:20157015 PMID:20185555 PMID:20301426 PMID:20417568 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21203403 PMID:21538838 PMID:21636302 PMID:21646330 PMID:21745197 PMID:21828197 PMID:22042570 PMID:22433900 PMID:22779427 PMID:22857269 PMID:22865259 PMID:23250881 PMID:23384603 PMID:23387428 PMID:23401657 PMID:23409176 PMID:23916084 PMID:24798923 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25137924 PMID:25146915 PMID:25146916 PMID:25205859 PMID:25326637 PMID:25564500 PMID:25641387 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:26624494 PMID:26867657 PMID:27290639 PMID:27656661 PMID:27696015 PMID:27858935 PMID:28005958 PMID:28081242 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:29111013 PMID:29261183 PMID:29389947 PMID:30293569 PMID:30919572 PMID:30972688 PMID:31500643 PMID:31589614 PMID:31609081 PMID:31673222 PMID:31782039 PMID:31816670 PMID:32025183 PMID:32040484 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32855858 PMID:33084218 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34008892 PMID:34242285 PMID:34426522 PMID:34732400 PMID:35741767 PMID:37091313 PMID:37510321 PMID:17428816 PMID:17314202 PMID:23401657 PMID:20546606 PMID:16513463 PMID:19112530 PMID:17306754 PMID:16617242 More...
RGD:7800686 , RGD:7800716 , RGD:7800715 , RGD:7800709 , RGD:7800708 , RGD:7800706 , RGD:7800704 , RGD:7800699
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Optic Atrophy, Dominant
ClinVar
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
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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
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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 PMID:31077085 More...
NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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Yme1l1
YME1-like 1 ATPase
ISO
ClinVar Annotator: match by term: Optic atrophy 11
OMIM ClinVar
PMID:25741868 PMID:27495975 PMID:28492532
NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335
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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 PMID:28454995 PMID:28492532 PMID:29181157 PMID:31327635 PMID:32219868 PMID:32600459 More...
NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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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
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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 chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135
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Mief1
mitochondrial elongation factor 1
ISO
ClinVar Annotator: match by term: Optic atrophy 14
OMIM ClinVar
PMID:33632269
NCBI chr 7:111,786,630...111,802,220
Ensembl chr 7:111,786,709...111,802,220
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Mcat
malonyl-CoA-acyl carrier protein transacylase
ISO
ClinVar Annotator: match by term: Optic atrophy 15
OMIM ClinVar
PMID:33918393
NCBI chr 7:114,693,612...114,705,677
Ensembl chr 7:114,693,612...114,704,542
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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 PMID:37653044 PMID:37734847 More...
NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863
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Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Optic atrophy 2
ClinVar
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 PMID:25205859 PMID:25741868 PMID:28081242 PMID:28492532 PMID:32855858 PMID:32883240 More...
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
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Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Optic atrophy 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15635063 PMID:16199547 PMID:20696759 PMID:25741868 PMID:26604000 PMID:26825290 PMID:27145208 PMID:27328748 PMID:28492532 PMID:28969390 PMID:29110115 PMID:30850373 PMID:33644862 PMID:34356170 More...
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Yars2
tyrosyl-tRNA synthetase 2
ISO
ClinVar Annotator: match by term: Optic atrophy 5
ClinVar
PMID:25741868
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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Tmem126a
transmembrane protein 126A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7
OMIM CTD ClinVar
PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 PMID:30369941 More...
NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628
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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 PMID:28492532 PMID:30689204 PMID:32449285 PMID:32483926 PMID:32519519 PMID:34056600 PMID:34234304 More...
NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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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 PMID:32449285 PMID:34056600 More...
NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
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Sgsh
N-sulfoglucosamine sulfohydrolase
ISO
ClinVar Annotator: match by term: Optic atrophy 9
ClinVar
PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 PMID:22976768 PMID:25741868 PMID:26787381 PMID:28492532 PMID:29023963 PMID:31536183 PMID:32581362 More...
NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
ClinVar
PMID:25741868
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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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 PMID:26336027 PMID:27666369 PMID:28492532 PMID:30080992 PMID:30638765 PMID:34134906 PMID:34356170 More...
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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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
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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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 PMID:21866095 PMID:21901789 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23847139 PMID:24033266 PMID:24625443 PMID:25741868 PMID:28041643 PMID:28492532 PMID:33535056 More...
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Nphp1
nephrocystin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
CTD ClinVar
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17576681 PMID:17855640 PMID:23559409 PMID:23661369 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26499951 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:30108342 PMID:31523374 PMID:32483926 PMID:33193692 More...
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Rlig1
RNA 5'-phosphate and 3'-OH ligase 1
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
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Sdccag8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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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
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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 PMID:28492532 PMID:29127259 PMID:33532864 More...
NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Wdr19
WD repeat domain 19
ISO
DNA:missense mutations, frameshift mutations, snp:multiple (human) ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome
ClinVar RGD
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 PMID:33517396 PMID:34529350 PMID:36909829 PMID:23683095 More...
RGD:11552600
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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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 PMID:10712196 PMID:10839884 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17576681 PMID:17855640 PMID:23559409 PMID:23661369 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26499951 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:30108342 PMID:31523374 PMID:32483926 PMID:33193692 More...
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 PMID:12244321 PMID:15776426 PMID:16339905 PMID:17558407 PMID:17576681 PMID:17855640 PMID:21068128 PMID:21546380 PMID:21866095 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25445212 PMID:25472526 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:27491411 PMID:28492532 PMID:28700940 PMID:29127258 PMID:32865313 PMID:34295353 PMID:36474027 More...
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 5 CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutations:exon:multiple
OMIM ClinVar CTD RGD
PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 PMID:19430481 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:21901789 PMID:22183348 PMID:22261762 PMID:22773737 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24066033 PMID:24625443 PMID:24674142 PMID:25741868 PMID:25851290 PMID:26274329 PMID:26673778 PMID:26766544 PMID:27506978 PMID:27624628 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28832562 PMID:29053603 PMID:29068479 PMID:30718709 PMID:32531858 PMID:33535056 PMID:15723066 More...
RGD:11537383
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Cep290
centrosomal protein 290
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Senior-Loken syndrome 6
OMIM CTD ClinVar
PMID:9536098 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17576681 PMID:18414213 PMID:20079931 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23188109 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26673778 PMID:27353947 PMID:27375279 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:29398085 PMID:29482223 PMID:29844330 PMID:30718709 PMID:30776697 PMID:31091803 PMID:31624253 PMID:31734136 PMID:31970223 PMID:32036094 PMID:32208788 PMID:32856788 PMID:32865313 PMID:33308271 PMID:33502066 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33970760 PMID:34196655 PMID:34795310 PMID:34906470 More...
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Rlig1
RNA 5'-phosphate and 3'-OH ligase 1
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
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Adss2
adenylosuccinate synthase 2
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
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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 PMID:25741868 PMID:28492532 More...
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Catspere
catsper channel auxiliary subunit epsilon
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,799,669...89,954,723
Ensembl chr13:89,819,244...89,950,979
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Cep170
centrosomal protein 170
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:20835237 PMID:22190896 PMID:28492532
NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
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Cox20
cytochrome c oxidase assembly factor COX20
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:90,065,900...90,075,386
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Desi2
desumoylating isopeptidase 2
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,961,767...90,011,255
Ensembl chr13:89,961,934...90,016,416
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Hnrnpu
heterogeneous nuclear ribonucleoprotein U
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
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Pld5
phospholipase D family, member 5
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:20835237 PMID:28492532
NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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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 PMID:22190896 PMID:22626039 PMID:23188109 PMID:23559409 PMID:25640679 PMID:25741868 PMID:26968886 PMID:27486776 PMID:28492532 PMID:31844813 PMID:32432520 PMID:32483926 More...
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Spmip3
sperm microtubule inner protein 3
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817
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Zbtb18
zinc finger and BTB domain containing 18
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
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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 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29801666 PMID:30586318 PMID:31216405 PMID:32165824 PMID:32483926 PMID:33002628 PMID:33517396 PMID:33532864 PMID:34295353 PMID:36909829 More...
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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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 chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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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 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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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 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15277431 PMID:16806192 PMID:17568405 PMID:17603484 PMID:18060660 PMID:19344068 PMID:20301750 PMID:20738327 PMID:21446023 PMID:21602428 PMID:22226368 PMID:22238590 PMID:23429432 PMID:23596069 PMID:24033266 PMID:24705017 PMID:24890733 PMID:25133958 PMID:25741868 PMID:26435059 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29207974 PMID:30014265 PMID:30773290 PMID:30957632 PMID:31567480 PMID:32141364 PMID:33046911 PMID:33763535 PMID:33841295 PMID:33879153 PMID:34404380 PMID:35469785 PMID:37508961 PMID:37510321 PMID:9771706 More...
RGD:1599813
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Wfs1
wolframin ER transmembrane glycoprotein
ISO ISS
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 OMIM:222300
OMIM ClinVar MouseDO
PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11260218 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12565131 PMID:12754709 PMID:12782971 PMID:12913071 PMID:12955714 PMID:15008830 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:15912360 PMID:16151413 PMID:16195229 PMID:16199547 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18660851 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 PMID:19877185 PMID:20028947 PMID:20160352 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21127832 PMID:21143470 PMID:21446023 PMID:21454619 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22226368 PMID:22238590 PMID:22662265 PMID:22797899 PMID:22938506 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23596069 PMID:23845777 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24088041 PMID:24117146 PMID:24227685 PMID:24424032 PMID:24497219 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25250959 PMID:25262649 PMID:25326637 PMID:25388789 PMID:25392243 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26633545 PMID:26773575 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27434582 PMID:27468121 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28502252 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28993341 PMID:29048421 PMID:29183106 PMID:29207974 PMID:29447883 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30577886 PMID:30773290 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31604968 PMID:31759989 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32141364 PMID:32179840 PMID:32350710 PMID:32382995 PMID:32567228 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33116287 PMID:33538814 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 PMID:34445196 PMID:34556497 PMID:34737607 PMID:34746052 PMID:34789499 PMID:34803393 PMID:34837038 PMID:34970515 PMID:35206658 PMID:35452662 PMID:35469785 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 PMID:37508961 PMID:37510321 More...
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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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)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:25741868 PMID:28492532 PMID:29237418 PMID:17846994 PMID:19451219 More...
RGD:10045603 , RGD:10045601
NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
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Cisd3
CDGSH iron sulfur domain 3
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:25741868
NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550
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Pcgf2
polycomb group ring finger 2
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:25741868
NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
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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 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19102
sensory system disease
7330
eye disease
3696
Hereditary Eye Diseases
1119
Hereditary Optic Atrophies
83
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 +
29
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 +
7
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
disease
19102
disease of anatomical entity
18443
nervous system disease
14336
Neurologic Manifestations
10421
sensory system disease
7330
eye disease
3696
optic nerve disease
375
optic atrophy
193
Hereditary Optic Atrophies
83
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 +
29
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 +
7
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