RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: optic atrophy
Accession: DOID:5723
browse the term
Definition: Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
Synonyms: exact_synonym: atrophy of optic disc
primary_id: MESH:D009896
xref: ICD10CM:H47.2 ; ICD9CM:377.1 ; NCI:C34863 ; OMIM:PS165500 ; ORDO:98673
For additional species annotation, visit the
Alliance of Genome Resources .
G
Abca7
ATP binding cassette subfamily A member 7
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
G
Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:25741868 PMID:28492532 PMID:30311386
NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
G
Afg3l2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:26539208 PMID:29181157 PMID:32219868
NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
G
Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr X:135,304,063...135,343,062
Ensembl chr X:135,304,066...135,343,087
G
Arhgef10
Rho guanine nucleotide exchange factor 10
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr16:79,725,629...79,817,065
Ensembl chr16:79,725,643...79,793,619
G
Cct3
chaperonin containing TCP1 subunit 3
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr 2:187,669,051...187,693,610
Ensembl chr 2:187,668,796...187,693,610
G
Cyria
CYFIP related Rac1 interactor A
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:32581362
NCBI chr 6:37,555,167...37,661,196
Ensembl chr 6:37,555,182...37,665,064
G
Ddx1
DEAD-box helicase 1
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:32581362
NCBI chr 6:38,422,892...38,453,762
Ensembl chr 6:38,422,888...38,453,797
G
Dnm1l
dynamin 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17460227
NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
G
Gba
glucosylceramidase beta
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
G
Gucy2d
guanylate cyclase 2D, retinal
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
G
Mecr
mitochondrial trans-2-enoyl-CoA reductase
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:25741868 PMID:27817865 PMID:32313153
NCBI chr 5:150,001,281...150,027,407
Ensembl chr 5:150,001,281...150,027,049
G
Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
G
Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:28027978
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
G
Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:32581362
NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
G
Myo15a
myosin XVA
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
G
Ndufs3
NADH:ubiquinone oxidoreductase core subunit S3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14729820
NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
G
Nmnat1
nicotinamide nucleotide adenylyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842229
NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
G
Oat
ornithine aminotransferase
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:25741868 PMID:30311386
NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070
G
Opa1
OPA1, mitochondrial dynamin like GTPase
ISO ISS
DNA:splice-site mutation, insertion:intron:c.579_580insTT, c.871-1G>T (human) ClinVar Annotator: match by term: Optic atrophy OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708
ClinVar MouseDO
PMID:17722006 PMID:21636302 PMID:24970096 PMID:25012220 PMID:25741868 PMID:28492532 PMID:28494813 PMID:30311386 , PMID:16735988
RGD:7800714
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
G
Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
G
Pnkp
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29261713 PMID:29720203 PMID:30311386
NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
G
Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
G
Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr X:135,348,799...135,360,204
Ensembl chr X:135,348,436...135,360,203
G
Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr20:28,027,054...28,076,664 NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664 Ensembl chr20:28,027,054...28,076,664
G
Rpl24
ribosomal protein L24
ISS
OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708
MouseDO
NCBI chr11:47,116,885...47,122,093
Ensembl chr11:47,116,886...47,122,095
G
Slbp
stem-loop binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30695021
NCBI chr14:82,356,916...82,366,368
Ensembl chr14:82,356,916...82,366,368
G
Slc25a46
solute carrier family 25, member 46
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26168012
NCBI chr18:24,369,104...24,397,412
Ensembl chr18:24,369,125...24,397,551
G
Snrnp200
small nuclear ribonucleoprotein U5 subunit 200
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr 3:119,640,324...119,669,651
Ensembl chr 3:119,640,298...119,669,639
G
Tbcd
tubulin folding cofactor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27666370
NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
G
Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386
NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
G
Wfs1
wolframin ER transmembrane glycoprotein
ISO
DNA:missense mutation:cds:p.R456H (rs1801206) (human) ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:30311386 , PMID:23595122
RGD:8694404
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
G
Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE ClinVar Annotator: match by OMIM:258501
OMIM ClinVar
PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:18985435 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 PMID:30311386
NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
G
Fdxr
ferredoxin reductase
ISO
ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY
ClinVar OMIM
PMID:24033266 PMID:25741868 PMID:28965846
NCBI chr10:103,817,724...103,826,413
Ensembl chr10:103,817,704...103,826,448
G
Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION ClinVar Annotator: match by OMIM:614296
OMIM ClinVar
PMID:10679252 PMID:11295831 PMID:15605410 PMID:16648378 PMID:17492394 PMID:18544103 PMID:19877185 PMID:20069065 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21538838 PMID:21917145 PMID:22238590 PMID:24033266 PMID:24890733 PMID:25133958 PMID:25388789 PMID:25741868 PMID:26435059 PMID:26467025 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29529044
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
G
Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
ClinVar OMIM
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17722006 PMID:18222991 PMID:20157015 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146916 PMID:25564500 PMID:25641387 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28494813 PMID:28812649 PMID:30311386
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
G
Fam172a
family with sequence similarity 172, member A
ISO
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome
ClinVar
PMID:24462372
NCBI chr 2:4,942,795...5,547,744
Ensembl chr 2:4,942,775...5,545,144
G
Nr2f1
nuclear receptor subfamily 2, group F, member 1
ISO
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar Annotator: match by OMIM:615722
OMIM ClinVar
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:26138355 PMID:26350515 PMID:26986877 PMID:28963436
NCBI chr 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
G
Pou5f2
POU domain class 5, transcription factor 2
ISO
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome
ClinVar
PMID:24462372
NCBI chr 2:5,437,067...5,438,301
Ensembl chr 2:5,437,067...5,438,301
G
RGD1560883
similar to KIAA0825 protein
ISO
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome
ClinVar
PMID:24462372
NCBI chr 2:4,195,871...4,755,065
Ensembl chr 2:4,195,917...4,754,318
G
Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
DNA:missense mutation:exon:p.E818K (c.2452G>A) (human) ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS ClinVar Annotator: match by term: CAPOS syndrome ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar OMIM
PMID:8733056 PMID:15260953 PMID:19652145 PMID:20576601 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24088041 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28708303 PMID:28849312 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30311386 PMID:30657467 PMID:32581362 , PMID:24468074
RGD:11576280
NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
G
Prps1
phosphoribosyl pyrophosphate synthetase 1
ISO
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5 ClinVar Annotator: match by OMIM:311070
OMIM ClinVar
PMID:17701900 PMID:24285972 PMID:25182139 PMID:25491489 PMID:28492532
NCBI chr X:111,798,233...111,820,270
Ensembl chr X:111,798,233...111,820,266
G
Ankfy1
ankyrin repeat and FYVE domain containing 1
ISS
OMIM:270550
MouseDO
NCBI chr10:59,259,955...59,331,669
Ensembl chr10:59,259,955...59,331,669
G
Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE
ClinVar
PMID:14557557 PMID:14635118 PMID:16401742 PMID:16940310 PMID:18546365 PMID:19578034 PMID:21880868 PMID:23921535 PMID:24508722 PMID:25118206 PMID:25326637 PMID:25462018 PMID:25741868 PMID:26095671 PMID:26357557 PMID:26467025 PMID:27119776 PMID:27987238 PMID:28128857 PMID:28492532 PMID:29474836
NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
G
Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar Annotator: match by OMIM:270550
OMIM ClinVar
PMID:9892370 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18569450 PMID:18604465 PMID:19208651 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22287014 PMID:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:24033266 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24457356 PMID:25237835 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26539891 PMID:27217339 PMID:27288452 PMID:27433545 PMID:27980752 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:29220673 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29968200 PMID:30680480 PMID:32488064
NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
G
Sgcg
sarcoglycan, gamma
ISO
ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025
NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
G
Slc44a1
solute carrier family 44 member 1
ISO
ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE
OMIM ClinVar
PMID:28097321 PMID:31855247
NCBI chr 5:70,243,643...70,424,115
Ensembl chr 5:70,245,843...70,424,112
G
Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
DNA:mutation:intron:IVS1-23A>C(human) ClinVar Annotator: match by term: Deafness dystonia syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome DNA:mutation:exon:116delT(Q38fsX64)(human) DNA:deletion:cds:108delG(human)
ClinVar CTD OMIM
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17851739 PMID:17936919 PMID:24033266 , PMID:15710860 , PMID:17471106 , PMID:11601506
RGD:13209130 , RGD:13209136 , RGD:13209134
NCBI chr X:105,351,714...105,355,722
Ensembl chr X:105,352,402...105,355,716
G
Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY ClinVar Annotator: match by term: Autosomal dominant optic atrophy plus syndrome ClinVar Annotator: match by OMIM:125250
OMIM ClinVar
PMID:4058877 PMID:6493699 PMID:12566046 PMID:14644237 PMID:15531309 PMID:16158427 PMID:16240368 PMID:17188070 PMID:17722006 PMID:18065439 PMID:18158317 PMID:18195150 PMID:19029523 PMID:19303950 PMID:20157015 PMID:21112924 PMID:21636302 PMID:21646330 PMID:22857269 PMID:24970096 PMID:25012220 PMID:25564500 PMID:25741868 PMID:26467025 PMID:27890673 PMID:28492532 PMID:28494813 PMID:28812649 PMID:29389947 PMID:30311386
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
G
Mecr
mitochondrial trans-2-enoyl-CoA reductase
ISO
ClinVar Annotator: match by term: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
ClinVar OMIM
PMID:25741868 PMID:27817865 PMID:32313153
NCBI chr 5:150,001,281...150,027,407
Ensembl chr 5:150,001,281...150,027,049
G
Fdx2
ferredoxin 2
ISO
OMIM
NCBI chr 8:22,086,534...22,091,450
Ensembl chr 8:22,086,534...22,091,450
G
Slc25a4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY
ClinVar
PMID:16155110 PMID:25741868 PMID:30311386
NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
G
Slc25a42
solute carrier family 25, member 42
ISO
ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY
ClinVar
PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576
NCBI chr16:20,962,144...21,000,191
Ensembl chr16:20,962,227...20,985,225
G
Antxr1
ANTXR cell adhesion molecule 1
ISO
DNA:missense mutations:cds:c.505C>T,c.262C>T (human) ClinVar Annotator: match by term: Odontotrichomelic syndrome
ClinVar OMIM
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 , PMID:23602711
RGD:9684854
NCBI chr 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
G
Cask
calcium/calmodulin dependent serine protein kinase
ISO
RGD
PMID:9722958
RGD:734690
NCBI chr X:9,815,652...10,156,155
Ensembl chr X:9,815,652...10,156,155
G
Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8662757 PMID:11695835
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
G
Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10072046
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
G
Tmem126a
transmembrane protein 126A
ISO
ClinVar Annotator: match by term: Optic Atrophy, Recessive
ClinVar
NCBI chr 1:156,283,105...156,291,057
Ensembl chr 1:156,283,128...156,291,052
G
Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar Annotator: match by OMIM:614559
OMIM ClinVar
PMID:22405087 PMID:24088041 PMID:25351951 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30689204 PMID:31130284 PMID:32214227 PMID:32519519
NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
G
Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
ClinVar
PMID:24088041 PMID:25351951 PMID:25741868 PMID:30689204 PMID:31130284 PMID:32519519
NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
G
Apoa4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:18061280
RGD:5685659
NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
G
Ephx1
epoxide hydrolase 1
onset
ISO
DNA:missense mutation:cds:p.Y113H (human)
RGD
PMID:15838728
RGD:5688732
NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
G
Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Lca5
lebercilin LCA5
ISO
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar
PMID:28492532 PMID:30311386
NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224
G
Lrat
lecithin retinol acyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16250670 PMID:17011878
NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
G
Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
susceptibility
ISO
DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human) ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:535000 DNA:transition:CDS:c.8668T>C, p.W48R (human)
ClinVar CTD
PMID:7726182 , PMID:19026397 , PMID:20454697
RGD:5490293 , RGD:5508187
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
G
Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595 PMID:25741868
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
G
Mt-co3
mitochondrially encoded cytochrome c oxidase III
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leber's optic atrophy
CTD ClinVar
PMID:7573056 PMID:7804416 PMID:8037217 PMID:8240356 PMID:25741868 PMID:30311386
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
G
Mt-cyb
mitochondrially encoded cytochrome b
ISO
ClinVar Annotator: match by OMIM:535000 ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 PMID:8755941 PMID:25741868
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
G
Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:snp:cds:m.3635G>A (human) ClinVar Annotator: match by term: Optic atrophy, Leber type ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber DNA:missense mutation:cds:p.L289M (m.4171C>A) (human) DNA:missense mutation:cds:m.3866T>C (p.I187T) (human) DNA:snps:cds:m.4136A>G, m.4160T>C (human) DNA:snp:cds:m.3394T>C (human) DNA:transition:CDS:c.3460G>A, p.A52T (human)
ClinVar CTD
PMID:1417830 PMID:1442494 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:8496715 PMID:11479733 PMID:11854175 PMID:12112111 PMID:12205655 PMID:15342361 PMID:15466014 PMID:15505787 PMID:15972314 PMID:16738010 PMID:16969869 PMID:17562939 PMID:17620555 PMID:18216301 PMID:19497304 PMID:19555656 PMID:22879922 PMID:24569607 PMID:24830958 PMID:24884847 PMID:25194554 PMID:25741868 PMID:27449621 PMID:29991444 , PMID:11479733 , PMID:12112111 , PMID:22577081 , PMID:2018041 , PMID:19324017 , PMID:20454697
RGD:5508685 , RGD:8657118 , RGD:8657116 , RGD:5508712 , RGD:5508689 , RGD:5508187
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
G
Mt-nd2
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
ISO
DNA:transversion:CDS:c.4852T>A, p.L128Q (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:535000
CTD ClinVar
PMID:1732158 PMID:1900003 PMID:11479733 , PMID:20454697
RGD:5508187
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
G
Mt-nd3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
DNA: mutation ClinVar Annotator: match by term: Leber optic atrophy and dystonia ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar
PMID:12227465 PMID:17152068 PMID:17413873 PMID:19458970 , PMID:19458970
RGD:5508703
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
G
Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
DNA:mutation:exon:p.R340H(human) ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber DNA:transition:CDS:c.11778G>A (p.R340H) (human) DNA:mutation:exon: 11778G>A DNA:mutation: :m.11696G>A(human)
ClinVar CTD
PMID:1346348 PMID:1352537 PMID:1469456 PMID:1734726 PMID:1763894 PMID:1770533 PMID:1770665 PMID:1866007 PMID:1900003 PMID:1937476 PMID:1959619 PMID:1959931 PMID:2039048 PMID:2222273 PMID:2286378 PMID:2346190 PMID:2346203 PMID:2390098 PMID:2566021 PMID:2566116 PMID:2575667 PMID:2817063 PMID:3201231 PMID:8101084 PMID:8240101 PMID:8240102 PMID:8448903 PMID:8449667 PMID:8457609 PMID:8474822 PMID:8489402 PMID:8489411 PMID:8644732 PMID:9150158 PMID:11169561 PMID:11854175 PMID:12402249 PMID:12560876 PMID:12707444 PMID:15342361 PMID:15576045 PMID:16120329 PMID:16431939 PMID:16477364 PMID:16532388 PMID:18771762 PMID:19026397 PMID:24569607 PMID:25741868 , PMID:3201231 , PMID:20454697 , PMID:18771762 , PMID:19022198 , PMID:12436196 , PMID:16364244
RGD:1581057 , RGD:5508187 , RGD:5507829 , RGD:5491183 , RGD:1581059 , RGD:1581058
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
G
Mt-nd4l
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
ISO
DNA:missense mutation:cds:m.10680G>A (p.A71T) (human) ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)
ClinVar CTD
PMID:8680405 PMID:11935318 , PMID:19394449 , PMID:11935318
RGD:5686339 , RGD:5686341
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
G
Mt-nd5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
ISO
ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:535000 DNA:mutation: :m.13708G>A (human) DNA:mutation:exon:13042G>A (A236T) (human) DNA:mutation:exon:p.Y159H(human) DNA:mutation:: m.12338 T>C
ClinVar CTD
PMID:1417830 PMID:1732158 PMID:1764087 PMID:1900003 PMID:8213825 PMID:12509858 PMID:12736867 PMID:15767514 PMID:16240359 PMID:16816025 PMID:17400793 PMID:18332249 PMID:21131053 PMID:27164671 , PMID:16240359 , PMID:1732158 , PMID:16816025 , PMID:19022198 , PMID:21131053
RGD:1581060 , RGD:5507826 , RGD:5491202 , RGD:5491183 , RGD:5491172
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
G
Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
DNA:SNP, haplotypes: :m.14484T>C (human) ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber DNA:mutation: :m.13997G>A (p.P25L) (mouse) DNA:missense mutations, haplotypes:cds:multiple DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)
ClinVar CTD
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 PMID:8470982 PMID:8622678 PMID:8644732 PMID:8854108 PMID:9012411 PMID:9177303 PMID:9849804 PMID:10072046 PMID:10631164 PMID:10894222 PMID:11133798 PMID:12112086 PMID:12205655 PMID:12736867 PMID:12827453 PMID:14735585 PMID:15342361 PMID:15922297 PMID:15954041 PMID:16380132 PMID:18674747 PMID:24569607 PMID:29987491 , PMID:23665487 , PMID:23129651 , PMID:24398099 , PMID:19732751
RGD:8657119 , RGD:8657127 , RGD:8657125 , RGD:8657123
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
G
Ndufs2
NADH:ubiquinone oxidoreductase core subunit S2
ISO
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar
PMID:25741868
NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
G
Parl
presenilin associated, rhomboid-like
no_association
ISO
DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human)
RGD
PMID:20407791 , PMID:20711738
RGD:12902617 , RGD:12902618
NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
G
Rdh12
retinol dehydrogenase 12
ISO
RGD
PMID:15322982
RGD:1599415
NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
G
Rpe65
retinoid isomerohydrolase RPE65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16828753 PMID:17011878
NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
G
Rpgrip1
RPGR interacting protein 1
ISO
RGD
PMID:11283794
RGD:1599580
NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
G
Sod2
superoxide dismutase 2
treatment
ISO
RGD
PMID:15293270 , PMID:12601034
RGD:8158101 , RGD:8158104
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
G
Tp53
tumor protein p53
onset
ISO
DNA:polymorphism:cds:p.R72P(human)
RGD
PMID:15838728
RGD:5688732
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
G
Vcan
versican
ISO
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar
PMID:30311386
NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842
G
Mt-nd3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia
ClinVar
PMID:17152068 PMID:17413873 PMID:19458970
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
G
Ndufaf5
NADH:ubiquinone oxidoreductase complex assembly factor 5
ISO
ClinVar Annotator: match by term: Leber plus disease
ClinVar
PMID:25741868
NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
G
Sec31a
SEC31 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
ClinVar OMIM
PMID:30464055
NCBI chr14:10,854,713...10,909,579
Ensembl chr14:10,854,682...10,909,612
G
Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Dominant hereditary optic atrophy ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar Annotator: match by term: Optic Atrophy Type 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:165500 DNA:splice-site mutation:intron:c.1065+5G>A (mouse) DNA:mutations:multiple DNA:duplication:exons, introns:g.194832822_194840568dup (human) DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human) DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple DNA:SNPs, deletions:exons:multiple DNA:nonsense mutation:exon:p.Q285X (mouse)
OMIM ClinVar CTD
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11735024 PMID:11810270 PMID:12036970 PMID:12842213 PMID:14961560 PMID:15505825 PMID:15948788 PMID:16513463 PMID:16617242 PMID:16785854 PMID:17188070 PMID:17722006 PMID:18222991 PMID:18496845 PMID:19029523 PMID:19319978 PMID:19581274 PMID:19900585 PMID:20157015 PMID:20417568 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21203403 PMID:21538838 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23384603 PMID:23401657 PMID:23409176 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25326637 PMID:25564500 PMID:25641387 PMID:25699009 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26467025 PMID:27656661 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:29389947 PMID:30311386 , PMID:17314202 , PMID:23401657 , PMID:20546606 , PMID:16513463 , PMID:19112530 , PMID:17306754 , PMID:16617242 , PMID:17428816
RGD:7800716 , RGD:7800715 , RGD:7800709 , RGD:7800708 , RGD:7800706 , RGD:7800704 , RGD:7800699 , RGD:7800686
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
G
Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Optic Atrophy, Dominant
ClinVar
NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
G
Wfs1
wolframin ER transmembrane glycoprotein
ISO
DNA:missense mutations, deletion:multiple
RGD
PMID:21538838
RGD:7800683
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
G
Rtn4ip1
reticulon 4 interacting protein 1
ISO
ClinVar Annotator: match by term: Optic atrophy 10 ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures
ClinVar OMIM
PMID:26593267 PMID:29181510
NCBI chr20:48,881,124...48,924,921
Ensembl chr20:48,881,194...48,925,081
G
Yme1l1
YME1-like 1 ATPase
ISO
ClinVar Annotator: match by term: OPTIC ATROPHY 11
ClinVar OMIM
PMID:27495975
NCBI chr17:89,701,899...89,741,919
Ensembl chr17:89,704,102...89,741,321
G
Afg3l2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: OPTIC ATROPHY 12
OMIM ClinVar
PMID:26539208 PMID:29181157 PMID:32219868 PMID:32600459
NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
G
Ssbp1
single stranded DNA binding protein 1
ISO
ClinVar Annotator: match by term: Optic atrophy with negative electroretinograms
OMIM ClinVar
PMID:25741868 PMID:31298765 PMID:31550237 PMID:31550240
NCBI chr 4:68,634,844...68,645,112
Ensembl chr 4:68,634,929...68,645,172
G
Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Optic atrophy and cataract, autosomal dominant ClinVar Annotator: match by OMIM:165300
OMIM ClinVar
PMID:15342707 PMID:24136862 PMID:25159689 PMID:25205859 PMID:25741868 PMID:28081242 PMID:28492532
NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
G
Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Optic atrophy 5
ClinVar OMIM
PMID:15635063 PMID:20696759 PMID:25741868 PMID:26604000 PMID:27145208 PMID:28492532 PMID:28969390 PMID:29877124 PMID:30850373
NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
G
Yars2
tyrosyl-tRNA synthetase 2
ISO
ClinVar Annotator: match by term: Optic atrophy 5
ClinVar
PMID:20696759 PMID:25741868 PMID:26604000 PMID:27145208 PMID:28492532 PMID:29877124 PMID:30850373
NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377
G
Tmem126a
transmembrane protein 126A
ISO
ClinVar Annotator: match by term: Optic atrophy 7 ClinVar Annotator: match by OMIM:612989
OMIM ClinVar
PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532
NCBI chr 1:156,283,105...156,291,057
Ensembl chr 1:156,283,128...156,291,052
G
Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: Optic atrophy 9 ClinVar Annotator: match by term: OPTIC ATROPHY 9
OMIM ClinVar
PMID:25351951 PMID:25741868 PMID:28492532
NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
G
Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: OPTIC ATROPHY 9
ClinVar
PMID:25351951
NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
G
Fdxr
ferredoxin reductase
ISO
ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
ClinVar
PMID:25741868
NCBI chr10:103,817,724...103,826,413
Ensembl chr10:103,817,704...103,826,448
G
Ccdc88a
coiled coil domain containing 88A
ISO
ClinVar Annotator: match by term: Peho-like syndrome
ClinVar
PMID:26917597
NCBI chr14:113,771,093...113,936,376
Ensembl chr14:113,867,209...113,932,263
G
Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:cerebrospinal fluid:
RGD
PMID:11701291
RGD:8548849
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
G
Kif1a
kinesin family member 1A
ISO
ClinVar Annotator: match by term: PEHO syndrome
ClinVar
PMID:21376300 PMID:25253658 PMID:25265257 PMID:25741868 PMID:26125038 PMID:26486474 PMID:28492532 PMID:31805580
NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
G
Znhit3
zinc finger, HIT-type containing 3
ISO
ClinVar Annotator: match by term: PEHO syndrome
OMIM ClinVar
PMID:25741868 PMID:28335020 PMID:31048081
NCBI chr10:72,227,710...72,235,932
Ensembl chr10:72,228,222...72,235,888
G
Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
ClinVar OMIM
PMID:25741868 PMID:27666369
NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
G
Akt3
AKT serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar
NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
G
Cep290
centrosomal protein 290
ISO ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar MouseDO
PMID:25741868 PMID:28492532
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
G
Iqcb1
IQ motif containing B1
ISO ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar Annotator: match by term: Senior Loken syndrome OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar MouseDO
PMID:15723066 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:23188109 PMID:23446637 PMID:23847139 PMID:24033266 PMID:24625443 PMID:25741868 PMID:28041643 PMID:28492532
NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
G
Nphp1
nephrocystin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Loken-Senior syndrome
CTD ClinVar
PMID:25741868 PMID:28492532 PMID:30311386
NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
G
Nphp4
nephrocystin 4
ISO ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar MouseDO
PMID:28492532
NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
G
RGD1307947
similar to RIKEN cDNA C430008C19
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar
PMID:25741868
NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
G
Sdccag8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar MouseDO
NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
G
Tmem218
transmembrane protein 218
ISS
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
MouseDO
NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
G
Ttc21b
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: Senior Loken syndrome
ClinVar
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532
NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
G
Wdr19
WD repeat domain 19
ISO
DNA:missense mutations, frameshift mutations, snp:multiple (human)
RGD
PMID:23683095
RGD:11552600
NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
G
Nphp1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 1
OMIM ClinVar
PMID:8852662 PMID:9326933 PMID:9856524 PMID:10712196 PMID:15138899 PMID:16155189 PMID:24746959 PMID:25741868 PMID:27491411 PMID:28492532 PMID:28624958 PMID:30311386
NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
G
Nphp3
nephrocystin 3
ISO
OMIM
NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
G
Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 4 ClinVar Annotator: match by OMIM:606996
OMIM ClinVar
PMID:1248184 PMID:6837691 PMID:11920287 PMID:12205563 PMID:15776426 PMID:17855640 PMID:21068128 PMID:21546380 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:24033266 PMID:25445212 PMID:25472526 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:28492532 PMID:29127258
NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
G
Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 5 DNA:frameshift mutations, nonsense mutations:exon:multiple ClinVar Annotator: match by OMIM:609254
OMIM ClinVar
PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:22183348 PMID:22261762 PMID:22773737 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23847139 PMID:24066033 PMID:24625443 PMID:25741868 PMID:26673778 PMID:28041643 PMID:28492532 PMID:28832562 PMID:29053603 PMID:30718709 , PMID:15723066
RGD:11537383
NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
G
Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar Annotator: match by OMIM:610189
OMIM ClinVar
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17964524 PMID:18414213 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23188109 PMID:23344081 PMID:23351400 PMID:23591405 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27353947 PMID:28492532 PMID:28497568 PMID:28829391 PMID:29398085 PMID:30311386 PMID:30718709
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
G
RGD1307947
similar to RIKEN cDNA C430008C19
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 6
ClinVar
PMID:28492532
NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
G
Akt3
AKT serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
G
Cep170
centrosomal protein 170
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:94,807,090...94,887,448
Ensembl chr13:94,807,756...94,859,436
G
Pld5
phospholipase D family, member 5
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:94,025,696...94,355,219
Ensembl chr13:94,025,369...94,355,219
G
Sdccag8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar Annotator: match by OMIM:613615
OMIM ClinVar
PMID:20835237 PMID:21866095 PMID:22190896 PMID:22626039 PMID:23188109 PMID:25741868 PMID:28492532
NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
G
Wdr19
WD repeat domain 19
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 8 ClinVar Annotator: match by term: Senior-loken syndrome 8
OMIM ClinVar
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:32165824
NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
G
Traf3ip1
TRAF3 interacting protein 1
ISO
ClinVar Annotator: match by term: Senior-loken syndrome 9
OMIM ClinVar
PMID:26487268
NCBI chr 9:98,621,499...98,658,223
Ensembl chr 9:98,621,506...98,656,901
G
Afg3l2
AFG3 like matrix AAA peptidase subunit 2
onset
ISO
DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
RGD
PMID:22022284
RGD:11532672
NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
G
Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025
NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
G
Cel
carboxyl ester lipase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:30311386
NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
G
Hars1
histidyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
G
Inca1
inhibitor of CDK, cyclin A1 interacting protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
G
Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
G
Kif1c
kinesin family member 1C
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
G
Mfsd8
major facilitator superfamily domain containing 8
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:17564970 PMID:19177532 PMID:19201763 PMID:21990111 PMID:25439737 PMID:28492532 PMID:30311386
NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
G
Tapbpl
TAP binding protein-like
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant
ClinVar
PMID:11774073 PMID:22958904 PMID:26467025 PMID:28492532
NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
G
Vamp1
vesicle-associated membrane protein 1
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant
OMIM ClinVar
PMID:11774073 PMID:22958904 PMID:26467025 PMID:28492532
NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
G
Camta2
calmodulin binding transcription activator 2
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:57,291,192...57,309,638
Ensembl chr10:57,291,192...57,309,298
G
Chrne
cholinergic receptor nicotinic epsilon subunit
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
G
Eno3
enolase 3
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:57,278,271...57,283,661
Ensembl chr10:57,278,307...57,283,653
G
Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
G
Inca1
inhibitor of CDK, cyclin A1 interacting protein 1
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar
PMID:24319291 PMID:24482476 PMID:24808017 PMID:25741868 PMID:28492532 PMID:28832565
NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
G
Kif1c
kinesin family member 1C
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar Annotator: match by OMIM:611302
OMIM ClinVar
PMID:17273843 PMID:24088041 PMID:24319291 PMID:24482476 PMID:24808017 PMID:25741868 PMID:26633545 PMID:28492532 PMID:28687974 PMID:28832565
NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
G
LOC687707
hypothetical protein LOC687707
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
G
Pfn1
profilin 1
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
G
Rnf167
ring finger protein 167
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:57,268,331...57,272,667
Ensembl chr10:57,268,375...57,272,660
G
Slc25a11
solute carrier family 25 member 11
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
G
Spag7
sperm associated antigen 7
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:57,284,989...57,291,146
Ensembl chr10:57,284,989...57,291,146
G
Mars2
methionyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive ClinVar Annotator: match by OMIM:611390
OMIM ClinVar
PMID:22448145 PMID:25741868
NCBI chr 9:64,434,814...64,437,730
Ensembl chr 9:64,434,904...64,436,664 Ensembl chr 9:64,434,904...64,436,664
G
Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Autosomal recessive spastic ataxia
ClinVar
PMID:20876471 PMID:21450511 PMID:24033266 PMID:24180463
NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
G
Mtpap
mitochondrial poly(A) polymerase
ISO
ClinVar Annotator: match by term: Ataxia, spastic, 4, autosomal recessive ClinVar Annotator: match by OMIM:613672
OMIM ClinVar
PMID:20970105 PMID:25008111 PMID:25741868 PMID:26467025
NCBI chr17:56,046,507...56,068,185
Ensembl chr17:56,046,509...56,068,125
G
Afg3l2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 5, autosomal recessive ClinVar Annotator: match by OMIM:614487
OMIM ClinVar
PMID:22022284 PMID:25401298 PMID:25741868 PMID:28492532 PMID:32219868
NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
G
Tubb6
tubulin, beta 6 class V
ISO
ClinVar Annotator: match by term: Spastic ataxia 5, autosomal recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:63,130,542...63,140,181
Ensembl chr18:63,130,542...63,140,181
G
Nkx6-2
NK6 homeobox 2
ISO
ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
OMIM ClinVar
PMID:25741868 PMID:28575651 PMID:30285346 PMID:32860008
NCBI chr 1:211,922,389...211,923,929
Ensembl chr 1:211,922,389...211,923,929
G
Chp1
calcineurin-like EF-hand protein 1
ISO
OMIM
NCBI chr 3:111,354,506...111,389,998
Ensembl chr 3:111,354,506...111,389,989
G
Klc2
kinesin light chain 2
ISO
ClinVar Annotator: match by term: Spastic paraplegia, optic atrophy, and neuropathy
ClinVar OMIM
PMID:24482476 PMID:26385635
NCBI chr 1:220,492,174...220,502,397
Ensembl chr 1:220,492,176...220,502,272
G
Rab18
RAB18, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Warburg micro syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
G
Rab3gap1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by OMIM:600118 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar CTD
PMID:25741868 PMID:26467025
NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
G
Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Warburg micro syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
G
Tbc1d20
TBC1 domain family, member 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
G
Zranb3
zinc finger RANBP2-type containing 3
ISO
ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar
NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
G
Rab3gap1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Warburg micro syndrome 1
ClinVar OMIM
PMID:8249951 PMID:8958326 PMID:10465117 PMID:15216543 PMID:15696165 PMID:17351351 PMID:18286824 PMID:18414213 PMID:20512159 PMID:20584031 PMID:23420520 PMID:25326635 PMID:25741868 PMID:26138576 PMID:26421802 PMID:26467025 PMID:26852512 PMID:28492532 PMID:29300443 PMID:31319225
NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
G
Zranb3
zinc finger RANBP2-type containing 3
ISO
ClinVar Annotator: match by term: Warburg micro syndrome 1
ClinVar
PMID:15696165 PMID:25741868 PMID:26138576 PMID:26467025 PMID:28492532 PMID:29300443
NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
G
Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Warburg micro syndrome 2 ClinVar Annotator: match by OMIM:614225
OMIM ClinVar
PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29300443
NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
G
Rab18
RAB18, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Warburg micro syndrome 3 ClinVar Annotator: match by OMIM:614222
OMIM ClinVar
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443
NCBI chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
G
Tbc1d20
TBC1 domain family, member 20
ISO
ClinVar Annotator: match by term: Warburg micro syndrome 4 ClinVar Annotator: match by OMIM:615663
OMIM ClinVar
PMID:24239381 PMID:25741868
NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
G
Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:snp:cds:m.4216T>C (human)
RGD
PMID:9309689
RGD:5490247
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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: DIDMOAD syndrome ClinVar Annotator: match by term: Wolfram syndrome ClinVar Annotator: match by OMIM:222300 CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11260218 PMID:11295831 PMID:11317350 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15605410 PMID:16151413 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17603484 PMID:18040659 PMID:18414213 PMID:18544103 PMID:18806274 PMID:19042979 PMID:19344068 PMID:19877185 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:22226368 PMID:22238590 PMID:22938506 PMID:23429432 PMID:23535966 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24088041 PMID:24705017 PMID:24890733 PMID:25133958 PMID:25388789 PMID:25741868 PMID:26025012 PMID:26435059 PMID:26467025 PMID:26633545 PMID:26875006 PMID:27185633 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29529044 PMID:30014265 PMID:30311386 , PMID:9771706
RGD:1599813
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
G
Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1
OMIM ClinVar
PMID:10679252 PMID:10760554 PMID:11161832 PMID:11317350 PMID:12107816 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15605410 PMID:17492394 PMID:17517145 PMID:18414213 PMID:18544103 PMID:20738327 PMID:21446023 PMID:21602428 PMID:22938506 PMID:23429432 PMID:23535966 PMID:23856252 PMID:23990876 PMID:24033266 PMID:25133958 PMID:25388789 PMID:25741868 PMID:27185633 PMID:28492532
NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
G
Cisd2
CDGSH iron sulfur domain 2
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation: :109G>C (p.E37Q) (human) ClinVar Annotator: match by OMIM:604928
OMIM ClinVar CTD
PMID:10739754 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:29237418 , PMID:17846994 , PMID:19451219
RGD:10045603 , RGD:10045601
NCBI chr 2:240,586,754...240,611,560
Ensembl chr 2:240,586,754...240,611,560
G
Slc9b1
solute carrier family 9 member B1
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:10739754 PMID:17846994 PMID:25056293
NCBI chr 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16085
sensory system disease
5285
eye disease
2714
optic nerve disease
240
optic atrophy
131
3-methylglutaconic aciduria type 3
1
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
0
Al Gazali Khidr Prem Chandran Syndrome
0
Al Gazali Sabrinathan Nair Syndrome
0
Behr syndrome
1
CAPOS Syndrome
1
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
1
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
1
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
3
Hereditary Optic Atrophies +
63
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
0
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
1
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
1
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
0
PEHO syndrome
4
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
1
SPOAN syndrome
1
Silengo Lerone Pelizza Syndrome
0
Treft Sanborn Carey Syndrome
0
Warburg micro syndrome +
5
X-Linked Mental Retardation Gustavson Type
0
deafness-dystonia-optic neuronopathy syndrome
1
glaucomatous atrophy of optic disc
0
infantile cerebellar-retinal degeneration
2
partial optic atrophy
0
primary optic atrophy
0
spastic ataxia +
28
Path 2
disease
16085
disease of anatomical entity
15340
nervous system disease
10967
peripheral nervous system disease
2498
neuropathy
2319
cranial nerve disease
469
optic nerve disease
240
optic atrophy
131
3-methylglutaconic aciduria type 3
1
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
0
Al Gazali Khidr Prem Chandran Syndrome
0
Al Gazali Sabrinathan Nair Syndrome
0
Behr syndrome
1
CAPOS Syndrome
1
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
1
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
1
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
3
Hereditary Optic Atrophies +
63
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
0
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
1
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
1
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
0
PEHO syndrome
4
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
1
SPOAN syndrome
1
Silengo Lerone Pelizza Syndrome
0
Treft Sanborn Carey Syndrome
0
Warburg micro syndrome +
5
X-Linked Mental Retardation Gustavson Type
0
deafness-dystonia-optic neuronopathy syndrome
1
glaucomatous atrophy of optic disc
0
infantile cerebellar-retinal degeneration
2
partial optic atrophy
0
primary optic atrophy
0
spastic ataxia +
28