Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 nerve disease
go back to main search page
Accession:DOID:1891 term browser browse the term
Definition:Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.
Synonyms:exact_synonym: Neural Optical Lesion;   Neural-Optical Lesions;   Optic Disk Disorder;   Optic Disk Disorders;   Optic Neuropathies;   cranial nerve II diseases;   cranial nerve II disorder;   disorder of the second nerve;   optic nerve diseases;   optic nerve disorder;   optic neuropathy;   second cranial nerve diseases
 primary_id: MESH:D009901
 alt_id: RDO:0006240
 xref: NCI:C79698
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
optic nerve disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO associated with Alzheimer Disease;protein:increased expression:optic nerve RGD PMID:19277685 RGD:8695971 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Edn1 endothelin 1 ISO human protein in a rat model RGD PMID:18442442 RGD:8661688 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:25356970 NCBI chr 8:111,993,439...112,011,354
Ensembl chr 8:111,993,443...112,011,323
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:28027978 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:28027978 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721955 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 optic atrophy 3 ISO
IEA
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
OMIM:258501
ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:258501
OMIM
ClinVar
MouseDO
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 7:19,228,389...19,246,817
Ensembl chr 7:19,228,334...19,256,543
JBrowse link
anterior ischemic optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Becn1 beclin 1, autophagy related ISO protein:decreased expression:retina RGD PMID:21490676 RGD:6483070 NCBI chr11:101,288,258...101,302,286
Ensembl chr11:101,285,952...101,302,286
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO RGD PMID:24316388 RGD:11039419 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:snp:cds:m.4132G>A (human) RGD PMID:17454741 RGD:5490236 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO DNA:snp:promoter:g.-786T>C (human) RGD PMID:16633797 RGD:7775040 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:28965846 NCBI chr11:115,268,024...115,277,101
Ensembl chr11:115,268,024...115,277,050
JBrowse link
autoimmune optic neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament, heavy polypeptide severity ISO RGD PMID:23316360 RGD:27226805 NCBI chr11:4,938,754...4,948,064
Ensembl chr11:4,938,754...4,948,064
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
ClinVar
OMIM
PMID:9490303, PMID:9917792, PMID:11017079, PMID:11440988, PMID:11440989, PMID:11810270, PMID:12036970, PMID:14961560, PMID:15505825, PMID:16513463, PMID:17722006, PMID:18222991, PMID:20157015, PMID:20659957, PMID:20952381, PMID:21636302, PMID:21646330, PMID:22042570, PMID:22857269, PMID:23250881, PMID:23401657, PMID:24907432, PMID:25012220, PMID:25146916, PMID:25564500, PMID:25641387, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28812649, PMID:30311386 NCBI chr16:29,579,281...29,663,127
Ensembl chr16:29,579,334...29,654,884
JBrowse link
bilateral optic nerve hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral OMIM
ClinVar
PMID:12721955, PMID:25741868, PMID:28488383, PMID:28492532 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2210408I21Rik RIKEN cDNA 2210408I21 gene ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr13:77,135,531...77,613,785
Ensembl chr13:77,135,540...77,613,784
JBrowse link
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 chr13:77,708,677...78,166,240
Ensembl chr13:77,702,033...78,166,235
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome
ClinVar Annotator: match by OMIM:615722
OMIM
ClinVar
PMID:10624948, PMID:11511537, PMID:14738874, PMID:18414213, PMID:19812316, PMID:20147377, PMID:23300014, PMID:24462372, PMID:24781210, PMID:25326637, PMID:25741868, PMID:25741869, PMID:25877686, PMID:26138355, PMID:26350515, PMID:26986877, PMID:28654857, PMID:28963436 NCBI chr13:78,188,971...78,198,873
Ensembl chr13:78,188,973...78,199,757
JBrowse link
G Pou5f2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr13:78,024,902...78,026,296
Ensembl chr13:78,024,902...78,026,295
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar
OMIM
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25326637, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28708303, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362, PMID:24468074 RGD:11576280 NCBI chr 7:24,978,167...25,006,077
Ensembl chr 7:24,978,167...25,005,958
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5
ClinVar Annotator: match by OMIM:311070
OMIM
ClinVar
PMID:17701900, PMID:24285972, PMID:25182139, PMID:25491489, PMID:28492532 NCBI chr  X:140,456,603...140,476,140
Ensembl chr  X:140,456,613...140,476,140
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 IEA OMIM:270550 MouseDO NCBI chr11:72,690,002...72,772,146
Ensembl chr11:72,690,006...72,772,146
JBrowse link
G Sacs sacsin ISO
IEA
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
OMIM:270550
ClinVar Annotator: match by OMIM:270550
OMIM
ClinVar
MouseDO
PMID:8472930, PMID:9892370, PMID:10610707, PMID:10655055, PMID:11788093, PMID:12873855, PMID:14718706, PMID:14718708, PMID:15156359, PMID:15486997, PMID:15985586, PMID:16007637, PMID:16606928, PMID:16944349, PMID:16961075, PMID:17516465, PMID:17683082, PMID:17846221, PMID:18414213, PMID:18439928, PMID:18465152, PMID:18569450, PMID:18604465, PMID:19208651, PMID:19779133, PMID:19892370, PMID:20301432, PMID:20368637, PMID:20798953, PMID:20852969, PMID:20876471, PMID:21450511, PMID:21507954, PMID:21665375, PMID:21745802, PMID:21993619, PMID:22287014, PMID:22441213, PMID:22751902, PMID:22816526, PMID:22892508, PMID:23043354, PMID:23250129, PMID:23280630, PMID:23338241, PMID:23497566, PMID:23598833, PMID:24033266, PMID:24180463, PMID:24318559, PMID:24384335, PMID:24457356, PMID:25237835, PMID:25401298, PMID:25405613, PMID:25497598, PMID:25741868, PMID:25819952, PMID:25887915, PMID:26010040, PMID:26068213, PMID:26288984, PMID:26302956, PMID:26366743, PMID:26410750, PMID:26467025, PMID:26539891, PMID:27217339, PMID:27288452, PMID:27433545, PMID:27871429, PMID:27980752, PMID:28251916, PMID:28362824, PMID:28454995, PMID:28491899, PMID:28492532, PMID:28535259, PMID:28641335, PMID:28658401, PMID:28832565, PMID:29220673, PMID:29379980, PMID:29417091, PMID:29453517, PMID:29482223, PMID:29538656, PMID:29858556, PMID:29915382, PMID:29968200, PMID:30680480 NCBI chr14:61,138,421...61,240,693
Ensembl chr14:61,138,457...61,240,695
JBrowse link
G Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr14:61,219,106...61,275,062
Ensembl chr14:61,219,115...61,258,490
JBrowse link
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a1 solute carrier family 44, member 1 ISO ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE OMIM
ClinVar
PMID:28097321, PMID:31855247 NCBI chr 4:53,440,387...53,622,478
Ensembl chr 4:53,440,413...53,622,478
JBrowse link
cystoid macular edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 6:29,200,436...29,216,364
Ensembl chr 6:29,200,434...29,216,364
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 2:26,396,249...26,409,244
Ensembl chr 2:26,396,249...26,409,203
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 7:3,629,985...3,642,485
Ensembl chr 7:3,629,985...3,642,486
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:1862076, PMID:30311386 NCBI chr 6:115,926,754...115,940,038
Ensembl chr 6:115,931,748...115,940,036
JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)
ClinVar
CTD
OMIM
PMID:8841189, PMID:10878669, PMID:11405816, PMID:11601506, PMID:11803487, PMID:15037720, PMID:15710860, PMID:16411215, PMID:17851739, PMID:17936919, PMID:24033266, PMID:15710860, PMID:17471106, PMID:11601506 RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:134,537,256...134,541,670
Ensembl chr  X:134,537,256...134,541,865
JBrowse link
dominant optic atrophy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Autosomal dominant optic atrophy plus syndrome
ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
ClinVar Annotator: match by OMIM:125250
OMIM
ClinVar
PMID:4058877, PMID:6493699, PMID:12566046, PMID:14644237, PMID:15531309, PMID:16158427, PMID:16240368, PMID:17188070, PMID:17722006, PMID:18065439, PMID:18158317, PMID:18195150, PMID:19029523, PMID:19303950, PMID:20157015, PMID:21112924, PMID:21636302, PMID:21646330, PMID:22857269, PMID:25012220, PMID:25564500, PMID:25741868, PMID:26467025, PMID:27890673, PMID:28492532, PMID:28812649, PMID:30311386 NCBI chr16:29,579,281...29,663,127
Ensembl chr16:29,579,334...29,654,884
JBrowse link
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 ISO
IEA
IMP
DNA:missense mutation:cds:p.R345W (human)
ClinVar Annotator: match by term: Malattia leventinese
ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy
OMIM:126600
ClinVar Annotator: match by OMIM:126600
protein:altered expression: :
ClinVar
MouseDO
OMIM
PMID:10369267, PMID:11384588, PMID:11389162, PMID:12242346, PMID:17666404, PMID:22031286, PMID:25077532, PMID:25741868, PMID:28492532, PMID:30541486, PMID:10369267, PMID:12242346, PMID:17664227 RGD:1598888, RGD:10401794, RGD:10401791 NCBI chr11:28,853,154...28,926,743
Ensembl chr11:28,853,204...28,926,743
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina ClinVar PMID:11139241, PMID:25675413, PMID:25741868, PMID:26842753, PMID:28492532 NCBI chr17:46,910,478...46,924,933
Ensembl chr17:46,910,459...46,924,933
JBrowse link
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
ClinVar
OMIM
PMID:25741868, PMID:27817865, PMID:32313153 NCBI chr 4:131,843,444...131,867,787
Ensembl chr 4:131,843,470...131,867,786
JBrowse link
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdx2 ferredoxin 2 ISO OMIM NCBI chr 9:21,067,512...21,073,531
Ensembl chr 9:21,067,520...21,073,614
JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:4114165, PMID:7726154, PMID:7726155, PMID:9353617, PMID:10392369, PMID:11437868, PMID:12393175, PMID:15048886, PMID:25741868, PMID:31965079, PMID:32313153 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139
JBrowse link
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), 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 chr 8:46,207,168...46,211,062
Ensembl chr 8:46,206,797...46,211,284
JBrowse link
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY ClinVar PMID:25741868, PMID:26541337, PMID:29327420, PMID:29923093, PMID:30237576 NCBI chr 8:70,184,340...70,212,281
Ensembl chr 8:70,184,340...70,212,305
JBrowse link
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 anthrax toxin receptor 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 6:87,133,853...87,335,809
Ensembl chr 6:87,133,853...87,335,821
JBrowse link
Hereditary Optic Atrophies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin-dependent serine protein kinase (MAGUK family) ISO RGD PMID:9722958 RGD:734690 NCBI chr  X:13,517,080...13,846,783
Ensembl chr  X:13,517,080...13,851,367
JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:8662757, PMID:11695835 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544
JBrowse link
G mt-Nd6 NADH dehydrogenase 6, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:10072046 NCBI chr MT:13,552...14,070
Ensembl chr MT:13,552...14,070
JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic Atrophy, Recessive ClinVar NCBI chr 7:90,450,700...90,457,203
Ensembl chr 7:90,450,700...90,457,229
JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2, mitochondrial ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
ClinVar Annotator: match by OMIM:614559
OMIM
ClinVar
PMID:22405087, PMID:24088041, PMID:25351951, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30689204, PMID:32214227 NCBI chr15:81,872,463...81,915,137
Ensembl chr15:81,872,309...81,915,133
JBrowse link
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041, PMID:25351951, PMID:25741868 NCBI chr15:81,915,030...81,926,247
Ensembl chr15:81,888,228...81,926,240
JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar PMID:1258954, PMID:12140190, PMID:15976030, PMID:17167404, PMID:18554571, PMID:18648522, PMID:19169412, PMID:19753314, PMID:20361016, PMID:21670352, PMID:22142163, PMID:22605927, PMID:22892318, PMID:23112574, PMID:23143909, PMID:23742260, PMID:24088041, PMID:24531000, PMID:25097241, PMID:25412400, PMID:25741868, PMID:26583794, PMID:26633545, PMID:28492532, PMID:29170418, PMID:29450879, PMID:30181649 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,107,245...44,109,187
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by OMIM:611040
OMIM
ClinVar
PMID:1258954, PMID:12140190, PMID:15976030, PMID:17167404, PMID:18554571, PMID:18648522, PMID:19169412, PMID:19753314, PMID:20361016, PMID:21670352, PMID:22142163, PMID:22605927, PMID:22892318, PMID:23112574, PMID:23143909, PMID:23742260, PMID:24088041, PMID:24531000, PMID:25097241, PMID:25412400, PMID:25741868, PMID:26583794, PMID:26633545, PMID:28492532, PMID:29170418, PMID:29450879, PMID:30181649, PMID:19753314 RGD:11553925 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,101,729...44,109,187
JBrowse link
Leber hereditary optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A-IV ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18061280 RGD:5685659 NCBI chr 9:46,240,844...46,243,458
Ensembl chr 9:46,240,696...46,243,459
JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr 1:180,989,556...181,017,569
Ensembl chr 1:180,976,210...181,020,904
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Lca5 Leber congenital amaurosis 5 (human) ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:83,391,355...83,442,994
Ensembl chr 9:83,390,293...83,441,127
JBrowse link
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670, PMID:17011878 NCBI chr 3:82,892,582...82,903,974
Ensembl chr 3:82,892,579...82,903,973
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial 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:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial 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:8,607...9,390
Ensembl chr MT:8,607...9,390
JBrowse link
G mt-Cytb cytochrome b, mitochondrial 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:14,145...15,288
Ensembl chr MT:14,145...15,288
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:snp:cds:m.3635G>A (human)
ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.L289M (m.4171C>A) (human)
DNA:missense mutation:cds:m.3866T>C (p.I187T) (human)
DNA:snps:cds:m.4136A>G, m.4160T>C (human)
DNA:snp:cds:m.3394T>C (human)
DNA:transition:CDS:c.3460G>A, p.A52T (human)
ClinVar
CTD
PMID:1417830, PMID:1442494, PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:8496715, PMID:11479733, PMID:11854175, PMID:12112111, PMID:12205655, PMID:15342361, PMID:15466014, PMID:15505787, PMID:15972314, PMID:16738010, PMID:16969869, PMID:17562939, PMID:17620555, PMID:18216301, PMID:19497304, PMID:19555656, PMID:22879922, PMID:24569607, PMID:24830958, PMID:24884847, PMID:25194554, PMID:27449621, PMID:29991444, PMID:11479733, PMID:12112111, PMID:22577081, PMID:2018041, PMID:19324017, PMID:20454697 RGD:5508685, RGD:8657118, RGD:8657116, RGD:5508712, RGD:5508689, RGD:5508187 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G mt-Nd2 NADH dehydrogenase 2, mitochondrial 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:3,914...4,951
Ensembl chr MT:3,914...4,951
JBrowse link
G mt-Nd3 NADH dehydrogenase 3, mitochondrial 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:9,459...9,806
Ensembl chr MT:9,459...9,806
JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial 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:16364244, PMID:12436196 RGD:1581057, RGD:5508187, RGD:5507829, RGD:5491183, RGD:1581058, RGD:1581059 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544
JBrowse link
G mt-Nd4l NADH dehydrogenase 4L, mitochondrial 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:9,877...10,173
Ensembl chr MT:9,877...10,173
JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial 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:11,742...13,565
Ensembl chr MT:11,742...13,565
JBrowse link
G mt-Nd6 NADH dehydrogenase 6, mitochondrial ISO
IEA
IAGP
DNA:SNP, haplotypes: :m.14484T>C (human)
ClinVar Annotator: match by term: Leber's optic atrophy
OMIM:535000
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
MouseDO
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:13,552...14,070
Ensembl chr MT:13,552...14,070
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Optic atrophy, Leber type ClinVar PMID:28027978, PMID:31965079 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:25741868 NCBI chr 1:171,234,853...171,251,686
Ensembl chr 1:171,234,853...171,251,388
JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) RGD PMID:20407791, PMID:20711738 RGD:12902617, RGD:12902618 NCBI chr16:20,279,820...20,302,395
Ensembl chr16:20,279,818...20,302,387
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr12:79,208,913...79,222,664
Ensembl chr12:79,208,914...79,222,665
JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753, PMID:17011878 NCBI chr 3:159,599,075...159,625,307
Ensembl chr 3:159,599,175...159,625,321
JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr14:52,104,241...52,161,339
Ensembl chr14:52,110,704...52,163,546
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial treatment ISO
IMP
RGD PMID:15293270, PMID:12601034 RGD:8158101, RGD:8158104 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Trp53 transformation related protein 53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:30311386 NCBI chr13:89,655,309...89,743,027
Ensembl chr13:89,655,312...89,742,509
JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia ClinVar PMID:17152068, PMID:17413873, PMID:19458970 NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806
JBrowse link
Leber plus disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leber plus disease ClinVar PMID:25741868 NCBI chr 2:140,170,584...140,218,965
Ensembl chr 2:140,170,649...140,203,689
JBrowse link
low tension glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenergic receptor, beta 1 susceptibility ISO DNA:polymorphism:cds:p.R389G(human) RGD PMID:16785856 RGD:8548468 NCBI chr19:56,722,117...56,725,150
Ensembl chr19:56,722,199...56,733,113
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G Cav1 caveolin 1, caveolae protein no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Cav2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 6:17,281,185...17,289,130
Ensembl chr 6:17,281,185...17,289,115
JBrowse link
G Crp C-reactive protein, pentraxin-related no_association ISO protein:increased expression:plasma: RGD PMID:16148587, PMID:22966842 RGD:9491770, RGD:9491771 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO RGD PMID:20858111 RGD:10402863 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Myoc myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chr 1:162,639,150...162,649,694
Ensembl chr 1:162,639,155...162,649,693
JBrowse link
G Optn optineurin susceptibility ISO DNA:SNPs:exon,introns:
DNA:polymorphism:exon:p.M98K(human)
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
RGD PMID:16148883, PMID:15226658, PMID:15557444 RGD:7771548, RGD:7775043, RGD:7775041 NCBI chr 2:5,020,521...5,064,399
Ensembl chr 2:5,020,642...5,064,051
JBrowse link
G Slc1a1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:606657
CTD
MouseDO
PMID:28703795 NCBI chr19:28,835,135...28,913,960
Ensembl chr19:28,835,049...28,913,960
JBrowse link
G Slc1a3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 IEA OMIM:606657 MouseDO NCBI chr15:8,634,124...8,710,807
Ensembl chr15:8,634,124...8,710,764
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO
IEA
protein:decreased expression:serum (human)
OMIM:606657
MouseDO PMID:21421868 RGD:8655579 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association
ISO DNA:polymorphism,haplotype:multiple:
DNA:polymorphisms:multiple:
RGD PMID:22831837, PMID:21921986 RGD:7794768, RGD:7794769 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Trp53 transformation related protein 53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
macular retinal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H ISO associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: RGD PMID:16080911 RGD:2315548 NCBI chr11:108,395,297...108,414,396
Ensembl chr11:108,343,354...108,414,396
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 severity ISO associated with Diabetic Retinopathy;protein:increased expression:vitreous humor
associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human)
RGD PMID:19118698, PMID:22066978 RGD:2306981, RGD:7829760 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Clu clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Epo erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: RGD PMID:24894397 RGD:10402117 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr11:97,332,109...97,352,356
Ensembl chr11:97,332,109...97,352,077
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 5:30,155,253...30,184,593
Ensembl chr 5:30,155,248...30,184,593
JBrowse link
G Il6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous: RGD PMID:22066978 RGD:7829760 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Kdr kinase insert domain protein receptor ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor RGD PMID:23411880 RGD:8549772 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Ndp Norrie disease (pseudoglioma) (human) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:16,885,521...16,911,774
Ensembl chr  X:16,885,521...16,911,774
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) RGD PMID:15333482 RGD:7775044 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr16:29,579,281...29,663,127
Ensembl chr16:29,579,334...29,654,884
JBrowse link
G Rom1 rod outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr19:8,927,382...8,929,356
Ensembl chr19:8,927,391...8,929,356
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 treatment ISO associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human)
associated with Diabetes Mellitus, Experimental; human protein in a rat model
RGD PMID:20714746, PMID:21139695 RGD:8554903, RGD:8655546 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:30311386 NCBI chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Macular oedema ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor
CTD PMID:20577866, PMID:23411880, PMID:17505145 RGD:8549772, RGD:8655594 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec31a Sec31 homolog A (S. cerevisiae) ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES ClinVar
OMIM
PMID:30464055 NCBI chr 5:100,361,649...100,416,273
Ensembl chr 5:100,361,649...100,416,234
JBrowse link
neuromyelitis optica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 disease_progression ISO
IDA
IMP
IEP
CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD PMID:18509235, PMID:24070676, PMID:16087714, PMID:22271321, PMID:22271321, PMID:22271321, PMID:18420727, PMID:23116879, PMID:23890015, PMID:23995423, PMID:20047900 RGD:5148024, RGD:8696034, RGD:8696034, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Cd59b CD59b antigen severity ISO RGD PMID:28212662 RGD:13792592 NCBI chr 2:104,069,781...104,085,790
Ensembl chr 2:104,069,849...104,091,187
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr11:102,887,336...102,897,200
Ensembl chr11:102,887,336...102,900,912
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD PMID:21908482, PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD PMID:21748712, PMID:27049564 RGD:5147590, RGD:11530523 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:82,475,091...82,585,637
Ensembl chr18:82,475,146...82,585,637
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Nefh neurofilament, heavy polypeptide ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr11:4,938,754...4,948,064
Ensembl chr11:4,938,754...4,948,064
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO RGD PMID:21371524 RGD:5508767 NCBI chr10:76,253,836...76,261,319
Ensembl chr10:76,253,853...76,261,159
JBrowse link
non-arteritic anterior ischemic optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 onset ISO DNA:insertion/deletion:intron RGD PMID:21633717 RGD:8548899 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (1691G>A) (human) RGD PMID:15043529 RGD:7394764 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide susceptibility ISO ClinVar Annotator: match by term: Nonarteritic anterior ischemic optic neuropathy, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1693792, PMID:3303030, PMID:6235867, PMID:14711733 NCBI chr11:70,639,102...70,643,986
Ensembl chr11:70,639,122...70,642,036
JBrowse link
G Itgb3 integrin beta 3 susceptibility ISO DNA:polymorphism: : RGD PMID:20162297 RGD:8693343 NCBI chr11:104,608,000...104,670,476
Ensembl chr11:104,608,000...104,670,476
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :677C>T(human) RGD PMID:20162297 RGD:8693343 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
optic atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP-binding cassette, sub-family A (ABC1), member 7 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr10:79,996,453...80,015,572
Ensembl chr10:79,996,494...80,015,572
JBrowse link
G Aco2 aconitase 2, mitochondrial ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr15:81,872,463...81,915,137
Ensembl chr15:81,872,309...81,915,133
JBrowse link
G Afg3l2 AFG3-like AAA ATPase 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:26539208, PMID:29181157, PMID:32219868 NCBI chr18:67,404,764...67,449,192
Ensembl chr18:67,404,764...67,449,172
JBrowse link
G Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:48,474,944...48,513,563
Ensembl chr  X:48,474,944...48,513,563
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 7:51,510,007...51,598,707
Ensembl chr 7:51,511,029...51,598,709
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor (GEF) 10 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 8:14,906,412...15,001,085
Ensembl chr 8:14,911,663...15,001,085
JBrowse link
G Cct3 chaperonin containing Tcp1, subunit 3 (gamma) ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 3:88,297,135...88,321,766
Ensembl chr 3:88,297,116...88,321,767
JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:10508521, PMID:15024725, PMID:20956273, PMID:22968130, PMID:23449718, PMID:24715753, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 1:139,176,649...139,379,316
Ensembl chr 1:139,197,056...139,377,100
JBrowse link
G Cyria CYFIP related Rac1 interactor A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr12:12,262,134...12,380,965
Ensembl chr12:12,262,139...12,380,965
JBrowse link
G Ddx1 DEAD box helicase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr12:13,219,307...13,249,174
Ensembl chr12:13,216,973...13,249,213
JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr16:16,312,228...16,359,038
Ensembl chr16:16,312,230...16,358,959
JBrowse link
G Gba glucosidase, beta, acid ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 3:89,202,905...89,208,873
Ensembl chr 3:89,202,928...89,208,966
JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr11:69,218,117...69,237,279
Ensembl chr11:69,218,117...69,237,036
JBrowse link
G LOC108168164 uncharacterized LOC108168164 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr14:60,186,158...60,197,210
Ensembl chr14:59,638,540...60,197,179
JBrowse link
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:27817865, PMID:32313153 NCBI chr 4:131,843,444...131,867,787
Ensembl chr 4:131,843,470...131,867,786
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:28027978 NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr12:12,936,093...12,941,836
Ensembl chr12:12,936,093...12,941,914
JBrowse link
G Myo15 myosin XV ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr11:60,469,339...60,528,369
Ensembl chr11:60,469,339...60,528,369
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 2:90,894,627...90,904,721
Ensembl chr 2:90,894,634...90,904,827
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 4:149,467,569...149,485,210
Ensembl chr 4:149,467,572...149,485,202
JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:132,557,475...132,576,398
Ensembl chr 7:132,557,478...132,576,398
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO
IEA
DNA:splice-site mutation, insertion:intron:c.579_580insTT, c.871-1G>T (human)
ClinVar Annotator: match by term: Optic atrophy
OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708
ClinVar
MouseDO
PMID:17722006, PMID:21636302, PMID:25012220, PMID:25741868, PMID:28492532, PMID:30311386, PMID:16735988 RGD:7800714 NCBI chr16:29,579,281...29,663,127
Ensembl chr16:29,579,334...29,654,884
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr18:63,010,213...63,387,716
Ensembl chr18:63,010,213...63,387,183
JBrowse link
G Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:29261713, PMID:29720203, PMID:30311386 NCBI chr 7:44,856,479...44,865,337
Ensembl chr 7:44,857,139...44,862,992
JBrowse link
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr15:81,915,030...81,926,247
Ensembl chr15:81,888,228...81,926,240
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr  X:48,513,663...48,530,240
Ensembl chr  X:48,519,285...48,530,232
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr10:58,446,852...58,494,155
Ensembl chr10:58,446,920...58,494,356
JBrowse link
G Rpl24 ribosomal protein L24 IEA OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 MouseDO NCBI chr16:55,966,275...55,971,437
Ensembl chr16:55,966,275...55,971,435
JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 5:33,640,055...33,652,574
Ensembl chr 5:33,634,952...33,652,574
JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168012 NCBI chr18:31,580,164...31,610,532
Ensembl chr18:31,556,111...31,609,911
JBrowse link
G Snrnp200 small nuclear ribonucleoprotein 200 (U5) ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr 2:127,208,386...127,240,453
Ensembl chr 2:127,208,386...127,240,451
JBrowse link
G Tbcd tubulin-specific chaperone d ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr11:121,451,991...121,617,170
Ensembl chr11:121,451,949...121,617,164
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:30311386 NCBI chr10:121,546,455...121,586,794
Ensembl chr10:121,546,455...121,586,787
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutation:cds:p.R456H (rs1801206) (human)
ClinVar Annotator: match by term: Optic atrophy
ClinVar PMID:30311386, PMID:23595122 RGD:8694404 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
optic atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO
IAGP
ClinVar Annotator: match by term: Dominant hereditary optic atrophy
ClinVar Annotator: match by term: Optic Atrophy, Dominant
ClinVar Annotator: match by term: Optic Atrophy Type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:165500
DNA:splice-site mutation:intron:c.1065+5G>A (mouse)
DNA:mutations:multiple
DNA:duplication:exons, introns:g.194832822_194840568dup (human)
DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple
DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human)
DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple
DNA:SNPs, deletions:exons:multiple
DNA:nonsense mutation:exon:p.Q285X (mouse)
OMIM
ClinVar
CTD
PMID:9490303, PMID:9917792, PMID:11017079, PMID:11017080, PMID:11440988, PMID:11440989, PMID:11735024, PMID:11810270, PMID:12036970, PMID:12842213, PMID:14961560, PMID:15505825, PMID:15948788, PMID:16513463, PMID:16617242, PMID:16785854, PMID:17188070, PMID:17722006, PMID:18222991, PMID:18496845, PMID:19029523, PMID:19319978, PMID:19581274, PMID:19900585, PMID:20157015, PMID:20417568, PMID:20659957, PMID:20801516, PMID:20952381, PMID:21203403, PMID:21538838, PMID:21636302, PMID:21646330, PMID:22042570, PMID:22857269, PMID:23250881, PMID:23384603, PMID:23401657, PMID:23409176, PMID:24907432, PMID:25012220, PMID:25326637, PMID:25564500, PMID:25641387, PMID:25699009, PMID:25741868, PMID:25794858, PMID:26206283, PMID:26385429, PMID:26467025, PMID:27656661, PMID:28492532, PMID:28812649, PMID:28926202, PMID:30311386, PMID:17314202, PMID:23401657, PMID:20546606, PMID:16513463, PMID:19112530, PMID:17306754, PMID:16617242, PMID:17428816 RGD:7800716, RGD:7800715, RGD:7800709, RGD:7800708, RGD:7800706, RGD:7800704, RGD:7800699, RGD:7800686 NCBI chr16:29,579,281...29,663,127
Ensembl chr16:29,579,334...29,654,884
JBrowse link
G Opa3 optic atrophy 3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chr 7:19,228,389...19,246,817
Ensembl chr 7:19,228,334...19,256,543
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
optic atrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Optic atrophy 10
ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures
ClinVar
OMIM
PMID:26593267, PMID:29181510 NCBI chr10:43,901,807...43,947,863
Ensembl chr10:43,901,807...43,957,201
JBrowse link
optic atrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yme1l1 YME1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: OPTIC ATROPHY 11 ClinVar
OMIM
PMID:27495975 NCBI chr 2:23,155,442...23,199,260
Ensembl chr 2:23,156,369...23,199,260
JBrowse link
Optic Atrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3-like AAA ATPase 2 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 12 OMIM
ClinVar
PMID:26539208, PMID:29181157, PMID:32219868, PMID:32600459 NCBI chr18:67,404,764...67,449,192
Ensembl chr18:67,404,764...67,449,172
JBrowse link
optic atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 optic atrophy 3 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 7:19,228,389...19,246,817
Ensembl chr 7:19,228,334...19,256,543
JBrowse link
optic atrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Optic atrophy 5 ClinVar
OMIM
PMID:15364948, PMID:15635063, PMID:17460227, PMID:20696759, PMID:25741868, PMID:26604000, PMID:26825290, PMID:26931468, PMID:26992161, PMID:27145208, PMID:27328748, PMID:28492532, PMID:28969390, PMID:29877124, PMID:30850373 NCBI chr16:16,312,228...16,359,038
Ensembl chr16:16,312,230...16,358,959
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Optic atrophy 5 ClinVar PMID:15364948, PMID:17460227, PMID:20696759, PMID:25741868, PMID:26604000, PMID:26825290, PMID:26931468, PMID:26992161, PMID:27145208, PMID:27328748, PMID:28492532, PMID:29877124, PMID:30850373 NCBI chr16:16,302,965...16,309,640
Ensembl chr16:16,302,965...16,309,640
JBrowse link
optic atrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic atrophy 7
ClinVar Annotator: match by OMIM:612989
OMIM
ClinVar
PMID:19327736, PMID:20405026, PMID:22815638, PMID:25741868, PMID:28492532 NCBI chr 7:90,450,700...90,457,203
Ensembl chr 7:90,450,700...90,457,229
JBrowse link
optic atrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2, mitochondrial 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 chr15:81,872,463...81,915,137
Ensembl chr15:81,872,309...81,915,133
JBrowse link
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H ISO ClinVar Annotator: match by term: OPTIC ATROPHY 9 ClinVar PMID:25351951 NCBI chr15:81,915,030...81,926,247
Ensembl chr15:81,888,228...81,926,240
JBrowse link
Optic Nerve Aplasia, Bilateral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Optic nerve aplasia, bilateral ClinVar PMID:12721955 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 onset IMP associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr 9:120,048,683...120,068,296
Ensembl chr 9:119,901,616...120,069,879
JBrowse link
G Nf1 neurofibromin 1 susceptibility ISO associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma
ClinVar PMID:25741868, PMID:28492532, PMID:29483232, PMID:21278392 RGD:12789442 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox2 SRY (sex determining region Y)-box 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system
ClinVar PMID:15578584, PMID:15812812, PMID:16145681, PMID:16932809, PMID:17219395, PMID:19921648, PMID:20803647, PMID:27427475 NCBI chr 3:34,649,995...34,652,461
Ensembl chr 3:34,650,405...34,652,461
JBrowse link
G Sox2ot SOX2 overlapping transcript (non-protein coding) ISO ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system ClinVar PMID:15578584, PMID:15812812, PMID:16145681, PMID:16932809, PMID:17219395, PMID:19921648, PMID:20803647, PMID:27427475 NCBI chr 3:34,560,381...34,677,993
Ensembl chr 3:34,104,270...34,682,619
JBrowse link
Optic Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotective protein ISO RGD PMID:18414890 RGD:2312783 NCBI chr 2:168,180,965...168,207,112
Ensembl chr 2:168,180,986...168,207,112
JBrowse link
G Amigo3 adhesion molecule with Ig like domain 3 treatment ISO RGD PMID:23613963 RGD:14390159 NCBI chr 9:108,053,159...108,055,701
Ensembl chr 9:108,053,159...108,055,701
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20216911 RGD:2326035 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Aqp9 aquaporin 9 ISO RGD PMID:20216911 RGD:2326035 NCBI chr 9:71,110,659...71,167,849
Ensembl chr 9:71,110,659...71,168,682
JBrowse link
G Arg2 arginase type II ISO CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chr12:79,130,788...79,156,301
Ensembl chr12:79,130,777...79,156,301
JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:10366744 RGD:10047417 NCBI chr 2:73,816,509...73,892,677
Ensembl chr 2:73,816,509...73,892,639
JBrowse link
G Bax BCL2-associated X protein ISO mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO
IDA
RGD PMID:15140649, PMID:9520478, PMID:11050383 RGD:8655584, RGD:8655637, RGD:8655586 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G C3 complement component 3 ISO mRNA:increased expression:optic nerve RGD PMID:14577867 RGD:5129542 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Cdk2 cyclin-dependent kinase 2 ISO mRNA:increased expression:retina RGD PMID:16723461 RGD:2293567 NCBI chr10:128,697,938...128,705,051
Ensembl chr10:128,697,939...128,705,031
JBrowse link
G Cfl1 cofilin 1, non-muscle treatment ISO RGD PMID:27443501 RGD:11568693 NCBI chr19:5,490,455...5,494,031
Ensembl chr19:5,490,455...5,495,201
JBrowse link
G Clu clusterin ISO RGD PMID:14577867 RGD:5129542 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO RGD PMID:20144610 RGD:11039471 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:retina (rat) RGD PMID:18775855 RGD:2315508 NCBI chr14:63,122,462...63,145,923
Ensembl chr14:63,122,462...63,145,923
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Ednra endothelin receptor type A ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr 8:77,663,029...77,724,452
Ensembl chr 8:77,663,031...77,724,464
JBrowse link
G Ednrb endothelin receptor type B ISO mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr14:103,814,615...103,844,508
Ensembl chr14:103,814,625...103,844,402
JBrowse link
G Ep300 E1A binding protein p300 ISO protein:decreased expression:retinal ganglion cell layer (rat)
human gene in rat model
RGD PMID:21705428, PMID:21705428 RGD:7349392, RGD:7349392 NCBI chr15:81,586,209...81,652,077
Ensembl chr15:81,585,351...81,652,077
JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:14664816 RGD:8554854 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO RGD PMID:15144875 RGD:6218970 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 ISO RGD PMID:15144875 RGD:6218970 NCBI chr19:58,235,581...58,455,946
Ensembl chr19:58,235,604...58,455,909
JBrowse link
G Gfra2 glial cell line derived neurotrophic factor family receptor alpha 2 ISO RGD PMID:15144875 RGD:6218970 NCBI chr14:70,890,107...70,979,840
Ensembl chr14:70,890,120...70,979,838
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:21443522 RGD:8548549 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO protein: altered activity: eye
protein:increased expression:retina:
RGD PMID:19484445, PMID:23648097 RGD:5686431, RGD:10046025 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Jun jun proto-oncogene ISO RGD PMID:10366744 RGD:10047417 NCBI chr 4:95,049,036...95,052,222
Ensembl chr 4:95,049,034...95,052,222
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO RGD PMID:20216911 RGD:2326035 NCBI chr 1:172,341,210...172,374,085
Ensembl chr 1:172,341,210...172,374,085
JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial IEP mRNA:increased expression:retina RGD PMID:12076086 RGD:8662362 NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28032230 RGD:13781885 NCBI chr12:32,820,335...32,853,369
Ensembl chr12:32,819,545...32,853,349
JBrowse link
G Nefm neurofilament, medium polypeptide ISO RGD PMID:8501527 RGD:9743936 NCBI chr14:68,119,545...68,125,004
Ensembl chr14:68,082,590...68,124,846
JBrowse link
G Neo1 neogenin ISO protein:increased expression:retina RGD PMID:21887516 RGD:9850142 NCBI chr 9:58,874,679...59,036,614
Ensembl chr 9:58,874,687...59,036,441
JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) ISO RGD PMID:20943663 RGD:5508695 NCBI chr11:95,568,818...95,587,698
Ensembl chr11:95,568,818...95,587,735
JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO RGD PMID:20943663 RGD:5508695 NCBI chr 3:87,778,244...87,795,242
Ensembl chr 3:87,778,244...87,795,162
JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO RGD PMID:20357199 RGD:5684908 NCBI chr13:58,806,472...59,133,970
Ensembl chr13:58,806,569...59,133,970
JBrowse link
G Pawr PRKC, apoptosis, WT1, regulator ISO mRNA:increased expression:retina: RGD PMID:12836167 RGD:1299297 NCBI chr10:108,332,189...108,414,391
Ensembl chr10:108,332,121...108,414,240
JBrowse link
G Pax6 paired box 6 ISO protein:increased expression:retina (rat) RGD PMID:23297010 RGD:8552379 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO protein:decreased expression:nerve fiber: RGD PMID:9893812 RGD:10449496 NCBI chr15:79,995,865...80,024,614
Ensembl chr15:79,995,874...80,014,977
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO protein:increased expression:optic nerve (rat) RGD PMID:22336118 RGD:6767293 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
JBrowse link
G Plau plasminogen activator, urokinase ISO mRNA:increased expression:optic nerve (rat) RGD PMID:20798533 RGD:6483802 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 ISO protein:increased expression:retina (rat) RGD PMID:15555919 RGD:9835027 NCBI chr 7:47,077,795...47,134,026
Ensembl chr 7:47,077,795...47,133,684
JBrowse link
G Rhoa ras homolog family member A ISO protein:increased expression, altered localization:retina RGD PMID:17534117 RGD:1642826 NCBI chr 9:108,306,160...108,337,943
Ensembl chr 9:108,306,129...108,337,934
JBrowse link
G Snw1 SNW domain containing 1 ISO protein:increased expression:retina (rat) RGD PMID:25074585 RGD:11035254 NCBI chr12:87,449,910...87,472,299
Ensembl chr12:87,449,075...87,472,274
JBrowse link
G Tlr4 toll-like receptor 4 IEP protein:increased expression:optic nerve RGD PMID:23103505 RGD:7794777 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO
IMP
RGD PMID:18552980, PMID:14697498 RGD:7794683, RGD:8661743 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Tradd TNFRSF1A-associated via death domain ISO protein:increased expression: retina RGD PMID:18552980 RGD:7794683 NCBI chr 8:105,258,575...105,264,594
Ensembl chr 8:105,258,286...105,264,609
JBrowse link
G Ybx3 Y box protein 3 ISO mRNA:increased expression:retinal ganglion cell RGD PMID:11750989 RGD:2311250 NCBI chr 6:131,364,858...131,388,450
Ensembl chr 6:131,364,855...131,388,476
JBrowse link
optic neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 disease_progression ISO RGD PMID:23024849, PMID:22157536 RGD:8696036, RGD:9685553 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Capn1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23860028 NCBI chr19:5,988,545...6,015,825
Ensembl chr19:5,988,545...6,015,897
JBrowse link
G Cat catalase treatment ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:18055782 RGD:9068881 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 ISO RGD PMID:11966770 RGD:8551840 NCBI chr 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 IEP associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve RGD PMID:20151287 RGD:5686855 NCBI chr 9:56,865,104...56,899,870
Ensembl chr 9:56,865,033...56,899,870
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO DNA:deletion, haplotype:cds (human) RGD PMID:19286687 RGD:5148007 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion, haplotype:cds (human) RGD PMID:19286687 RGD:5148007 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:9006417 RGD:7483596 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:22167100 RGD:7365050 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO RGD PMID:22157536, PMID:23860028 RGD:9685553, RGD:9685554 NCBI chr17:37,010,740...37,023,398
Ensembl chr17:37,010,743...37,023,398
JBrowse link
G Nefh neurofilament, heavy polypeptide severity ISO protein:increased expression:serum: RGD PMID:29085182, PMID:15258226 RGD:27226813, RGD:27226814 NCBI chr11:4,938,754...4,948,064
Ensembl chr11:4,938,754...4,948,064
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO
IMP
associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:17251466, PMID:17251466 RGD:8158052, RGD:8158052 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: Peho-like syndrome ClinVar PMID:26917597 NCBI chr11:29,373,405...29,510,808
Ensembl chr11:29,373,658...29,510,808
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300, PMID:25253658, PMID:25265257, PMID:25741868, PMID:26125038, PMID:26486474, PMID:28492532, PMID:31805580 NCBI chr 1:93,015,455...93,102,039
Ensembl chr 1:93,015,464...93,101,951
JBrowse link
G Znhit3 zinc finger, HIT type 3 ISO ClinVar Annotator: match by term: PEHO syndrome OMIM
ClinVar
PMID:25741868, PMID:28335020, PMID:31048081 NCBI chr11:84,910,950...84,916,366
Ensembl chr11:84,910,950...84,916,366
JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbce tubulin-specific chaperone 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 chr13:13,997,947...14,039,650
Ensembl chr13:13,997,949...14,039,638
JBrowse link
Senior-Loken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930430F08Rik RIKEN cDNA 4930430F08 gene ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr10:100,572,274...100,589,390
Ensembl chr10:100,572,265...100,590,423
JBrowse link
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr 1:177,020,076...177,261,781
Ensembl chr 1:177,020,073...177,258,203
JBrowse link
G Cep290 centrosomal protein 290 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:25741868, PMID:28492532 NCBI chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
G Iqcb1 IQ calmodulin-binding motif containing 1 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 chr16:36,828,360...36,872,719
Ensembl chr16:36,828,385...36,872,721
JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loken-Senior syndrome
CTD
ClinVar
PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:127,740,732...127,788,913
Ensembl chr 2:127,740,732...127,788,897
JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) 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 4:152,476,706...152,563,184
Ensembl chr 4:152,476,706...152,563,183
JBrowse link
G Sdccag8 serologically defined colon cancer antigen 8 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 chr 1:176,814,660...177,020,438
Ensembl chr 1:176,814,660...177,020,437
JBrowse link
G Tmem218 transmembrane protein 218 IEA OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 9:37,208,223...37,223,228
Ensembl chr 9:37,208,223...37,224,700
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Senior Loken syndrome ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr 2:66,183,787...66,256,674
Ensembl chr 2:66,184,327...66,256,617
JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr 5:65,199,696...65,260,415
Ensembl chr 5:65,199,696...65,260,415
JBrowse link
Senior-Loken Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) 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 2:127,740,732...127,788,913
Ensembl chr 2:127,740,732...127,788,897
JBrowse link
Senior-Loken Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephronophthisis 3 (adolescent) ISO OMIM NCBI chr 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) 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 4:152,476,706...152,563,184
Ensembl chr 4:152,476,706...152,563,183
JBrowse link
Senior-Loken Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcb1 IQ calmodulin-binding motif containing 1 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 chr16:36,828,360...36,872,719
Ensembl chr16:36,828,385...36,872,721
JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930430F08Rik RIKEN cDNA 4930430F08 gene ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr10:100,572,274...100,589,390
Ensembl chr10:100,572,265...100,590,423
JBrowse link
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 chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
Senior-Loken Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:177,020,076...177,261,781
Ensembl chr 1:177,020,073...177,258,203
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:176,729,072...176,813,979
Ensembl chr 1:176,733,653...176,814,067
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:175,962,301...176,281,512
Ensembl chr 1:175,962,306...176,275,312
JBrowse link
G Sdccag8 serologically defined colon cancer antigen 8 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 chr 1:176,814,660...177,020,438
Ensembl chr 1:176,814,660...177,020,437
JBrowse link
Senior-Loken Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 8
ClinVar Annotator: match by term: Senior-loken syndrome 8
OMIM
ClinVar
PMID:22019273, PMID:23559409, PMID:23683095, PMID:25726036, PMID:25741868, PMID:26260382, PMID:26275793, PMID:27241786, PMID:27596865, PMID:28492532, PMID:28621010, PMID:28973083, PMID:29068549 NCBI chr 5:65,199,696...65,260,415
Ensembl chr 5:65,199,696...65,260,415
JBrowse link
Senior-Loken Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Senior-loken syndrome 9 OMIM
ClinVar
PMID:26487268 NCBI chr 1:91,494,590...91,529,307
Ensembl chr 1:91,494,647...91,529,307
JBrowse link
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas neuroblastoma amplified sequence ISO ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly OMIM
ClinVar
PMID:20577004, PMID:24884844, PMID:25741868, PMID:26073778, PMID:26541327, PMID:27789416, PMID:28031453, PMID:28115293, PMID:28425089, PMID:28492532 NCBI chr12:13,269,101...13,637,380
Ensembl chr12:13,269,133...13,583,811
JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3-like AAA ATPase 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) RGD PMID:22022284 RGD:11532672 NCBI chr18:67,404,764...67,449,192
Ensembl chr18:67,404,764...67,449,172
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868, PMID:26467025 NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:30311386 NCBI chr 2:28,555,819...28,563,403
Ensembl chr 2:28,555,795...28,563,403
JBrowse link
G Hars histidyl-tRNA synthetase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr18:36,766,528...36,783,205
Ensembl chr18:36,766,528...36,783,205
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr11:70,688,361...70,700,285
Ensembl chr11:70,688,361...70,700,155
JBrowse link
G Kcnma1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr14:23,292,288...24,005,110
Ensembl chr14:23,289,431...24,014,491
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr11:70,700,396...70,731,970
Ensembl chr11:70,700,548...70,731,964
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:17564970, PMID:19177532, PMID:19201763, PMID:21990111, PMID:25439737, PMID:28492532, PMID:30311386 NCBI chr 3:40,818,065...40,846,880
Ensembl chr 3:40,818,103...40,846,886
JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant ClinVar PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 6:125,223,927...125,231,860
Ensembl chr 6:125,223,933...125,231,860
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant OMIM
ClinVar
PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 6:125,215,581...125,222,306
Ensembl chr 6:125,215,551...125,245,964
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930544D05Rik RIKEN cDNA 4930544D05 gene ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,615,589...70,616,892
Ensembl chr11:70,615,848...70,616,890
JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,669,463...70,688,145
Ensembl chr11:70,669,463...70,688,105
JBrowse link
G Chrne cholinergic receptor, nicotinic, epsilon polypeptide ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,614,883...70,619,213
Ensembl chr11:70,614,883...70,619,216
JBrowse link
G Eno3 enolase 3, beta muscle ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,653,125...70,662,513
Ensembl chr11:70,657,202...70,662,513
JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,639,102...70,643,986
Ensembl chr11:70,639,122...70,642,036
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:28492532, PMID:28832565 NCBI chr11:70,688,361...70,700,285
Ensembl chr11:70,688,361...70,700,155
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar Annotator: match by OMIM:611302
OMIM
ClinVar
PMID:17273843, PMID:24088041, PMID:24319291, PMID:24482476, PMID:24808017, PMID:25741868, PMID:26633545, PMID:28492532, PMID:28687974, PMID:28832565 NCBI chr11:70,700,396...70,731,970
Ensembl chr11:70,700,548...70,731,964
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,651,844...70,656,799
Ensembl chr11:70,651,850...70,654,644
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,647,230...70,651,421
Ensembl chr11:70,647,235...70,651,421
JBrowse link
G Slc25a11 solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,644,019...70,647,531
Ensembl chr11:70,644,196...70,647,479
JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr11:70,663,769...70,669,416
Ensembl chr11:70,663,771...70,669,416
JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionine-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 1:55,237,177...55,240,058
Ensembl chr 1:55,237,177...55,248,470
JBrowse link
G Sacs sacsin ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471, PMID:21450511, PMID:24033266, PMID:24180463 NCBI chr14:61,138,421...61,240,693
Ensembl chr14:61,138,457...61,240,695
JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Ataxia, spastic, 4, autosomal recessive
ClinVar Annotator: match by OMIM:613672
OMIM
ClinVar
PMID:20970105, PMID:25008111, PMID:25741868, PMID:26467025 NCBI chr18:4,375,589...4,399,888
Ensembl chr18:4,375,592...4,397,330
JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3-like AAA ATPase 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5, autosomal recessive
ClinVar Annotator: match by OMIM:614487
OMIM
ClinVar
PMID:22022284, PMID:25401298, PMID:25741868, PMID:32219868 NCBI chr18:67,404,764...67,449,192
Ensembl chr18:67,404,764...67,449,172
JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY OMIM
ClinVar
PMID:25741868, PMID:28575651, PMID:30285346 NCBI chr 7:139,579,376...139,582,797
Ensembl chr 7:139,579,376...139,582,797
JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chp1 calcineurin-like EF hand protein 1 ISO OMIM NCBI chr 2:119,547,707...119,587,024
Ensembl chr 2:119,547,697...119,587,027
JBrowse link
SPOAN syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, optic atrophy, and neuropathy ClinVar
OMIM
PMID:24482476, PMID:26385635 NCBI chr19:5,107,746...5,118,298
Ensembl chr19:5,107,746...5,118,560
JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr18:6,765,167...6,791,606
Ensembl chr18:6,733,905...6,794,429
JBrowse link
G Rab3gap1 RAB3 GTPase activating protein 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 chr 1:127,868,755...127,943,876
Ensembl chr 1:127,868,773...127,943,868
JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 1:185,204,088...185,286,756
Ensembl chr 1:185,204,117...185,286,759
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:152,293,826...152,313,994
Ensembl chr 2:152,293,828...152,313,996
JBrowse link
G Zranb3 zinc finger, RAN-binding domain containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr 1:127,954,179...128,103,053
Ensembl chr 1:127,954,184...128,103,047
JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein 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 chr 1:127,868,755...127,943,876
Ensembl chr 1:127,868,773...127,943,868
JBrowse link
G Zranb3 zinc finger, RAN-binding domain 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 chr 1:127,954,179...128,103,053
Ensembl chr 1:127,954,184...128,103,047
JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating 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 chr 1:185,204,088...185,286,756
Ensembl chr 1:185,204,117...185,286,759
JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO
IEA
ClinVar Annotator: match by term: Warburg micro syndrome 3
OMIM:614222
ClinVar Annotator: match by OMIM:614222
OMIM
ClinVar
MouseDO
PMID:21473985, PMID:23420520, PMID:25741868, PMID:28492532, PMID:29300443 NCBI chr18:6,765,167...6,791,606
Ensembl chr18:6,733,905...6,794,429
JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO
IEA
ClinVar Annotator: match by term: Warburg micro syndrome 4
OMIM:615663
ClinVar Annotator: match by OMIM:615663
OMIM
ClinVar
MouseDO
PMID:24239381, PMID:25741868 NCBI chr 2:152,293,826...152,313,994
Ensembl chr 2:152,293,828...152,313,996
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by OMIM:222300
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9771706, PMID:9817917, PMID:9856492, PMID:10521293, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11260218, PMID:11295831, PMID:11317350, PMID:12022290, PMID:12107816, PMID:12754709, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:16151413, PMID:17492394, PMID:17517145, PMID:17568405, PMID:17603484, PMID:18040659, PMID:18414213, PMID:18806274, PMID:19042979, PMID:19344068, PMID:19877185, PMID:20738327, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21446023, PMID:21538838, PMID:21602428, PMID:22226368, PMID:22238590, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23981289, PMID:23990876, PMID:24033266, PMID:24088041, PMID:24705017, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26025012, PMID:26435059, PMID:26467025, PMID:26633545, PMID:26875006, PMID:27185633, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044, PMID:30014265, PMID:30311386, PMID:9771706 RGD:1599813 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein IEA
ISO
OMIM:222300
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1
MouseDO
ClinVar
OMIM
PMID:10679252, PMID:10760554, PMID:11161832, PMID:11317350, PMID:12107816, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:17492394, PMID:17517145, PMID:18414213, PMID:20738327, PMID:21446023, PMID:21602428, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23990876, PMID:24033266, PMID:25133958, PMID:25388789, PMID:25741868, PMID:27185633, PMID:28492532, PMID:28590052 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO
IEA
IMP
ClinVar Annotator: match by term: Wolfram syndrome 2
OMIM:604928
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar Annotator: match by OMIM:604928
OMIM
ClinVar
MouseDO
CTD
PMID:10739754, PMID:17846994, PMID:24705017, PMID:25056293, PMID:25371195, PMID:29237418, PMID:17846994, PMID:19451219 RGD:10045603, RGD:10045601 NCBI chr 3:135,406,412...135,424,039
Ensembl chr 3:135,406,412...135,423,925
JBrowse link
G Slc9b1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr 3:135,347,993...135,397,827
Ensembl chr 3:135,348,029...135,397,827
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13334
    sensory system disease 4966
      eye disease 2565
        optic nerve disease 242
          Leber hereditary optic neuropathy + 28
          Optic Nerve Aplasia, Bilateral 1
          Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 2
          Optic Nerve Injuries 46
          Roifman-Chitayat Syndrome 0
          Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
          anterior ischemic optic neuropathy + 10
          bilateral optic nerve hypoplasia 1
          chiasmal syndrome 0
          low tension glaucoma 16
          optic atrophy + 134
          optic disk drusen + 4
          optic nerve neoplasm + 2
          optic neuritis + 39
          papilledema + 0
          pseudopapilledema 0
Path 2
Term Annotations click to browse term
  disease 13334
    disease of anatomical entity 12815
      nervous system disease 10374
        peripheral nervous system disease 2469
          neuropathy 2302
            cranial nerve disease 486
              optic nerve disease 242
                Leber hereditary optic neuropathy + 28
                Optic Nerve Aplasia, Bilateral 1
                Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 2
                Optic Nerve Injuries 46
                Roifman-Chitayat Syndrome 0
                Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
                anterior ischemic optic neuropathy + 10
                bilateral optic nerve hypoplasia 1
                chiasmal syndrome 0
                low tension glaucoma 16
                optic atrophy + 134
                optic disk drusen + 4
                optic nerve neoplasm + 2
                optic neuritis + 39
                papilledema + 0
                pseudopapilledema 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.