optic nerve disease - Ontology Report - Rat Genome Database

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

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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	browse the term
Definition:	A cranial nerve disease that is located_in the optic nerve. (DO)
Synonyms:	exact_synonym:	Neural Optical Lesion; Optic Disk Disorder; Optic Disk Disorders; cranial nerve II diseases; cranial nerve II disorder; disorder of the second nerve; neural-optical lesions; optic nerve diseases; optic nerve disorder; optic neuropathies; optic neuropathy; second cranial nerve diseases
	primary_id:	MESH:D009901
	xref:	NCI:C79698
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (371) Mouse (387) Human (6714) Chinchilla (345) Bonobo (352) Dog (366) Squirrel (342) Pig (359) Green Monkey (350) Naked Mole-rat (340) All
Genes (370) Strains (1)

optic nerve disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif, 10

DNA:SNP:cd: p.G661R (mouse)

RGD

NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620

G

advanced glycosylation end product-specific receptor

associated with Alzheimer Disease;protein:increased expression:optic nerve

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

endothelin 1

human protein in a rat model

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

lysyl-tRNA synthetase 1

ClinVar Annotator: match by term: Optic neuropathy

PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 More...

NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Optic neuropathy

PMID:25741868 PMID:28492532

NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480

G

mitochondrially encoded ATP synthase membrane subunit 6

ClinVar Annotator: match by term: Optic neuropathy

NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599

G

mitochondrially encoded ATP synthase membrane subunit 8

ClinVar Annotator: match by term: Optic neuropathy

NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

ClinVar Annotator: match by term: Optic nerve disorder

PMID:20301353 PMID:30143805

NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694

G

paired box 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014

3-methylglutaconic aciduria type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C19

ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3

PMID:16055927 PMID:27928778 PMID:28492532

NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264

G

outer mitochondrial membrane lipid metabolism regulator OPA3

ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome
OMIM:258501
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More...

NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469

anterior ischemic optic neuropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beclin 1

protein:decreased expression:retina

RGD

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

G

colony stimulating factor 3

treatment

RGD

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

DNA:snp:cds:m.4132G>A (human)

RGD

NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694

G

nitric oxide synthase 3

susceptibility

DNA:snp:promoter:g.-786T>C (human)

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation

PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More...

NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335

Auditory Neuropathy and Optic Atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ferredoxin reductase

ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition

PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More...

NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658

autoimmune optic neuritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurofilament heavy chain

severity

RGD

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

autosomal dominant Wolfram syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase 13

ClinVar Annotator: match by term: Wolfram-like disorder

PMID:25741868 PMID:28492532 PMID:33879837

NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More...

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

Behr syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OPA1, mitochondrial dynamin like GTPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of

CTD
OMIM
ClinVar

PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 More...

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

bilateral optic nerve hypoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired box 6

ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:10234503 PMID:12634864 PMID:12721955 PMID:18483559 PMID:22692063 More...

NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014

Bosch-Boonstra-Schaaf optic atrophy syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ARB2 cotranscriptional regulator A

ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome

NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162

G

KIAA0825 homolog

ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome

NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521

G

nuclear receptor subfamily 2, group F, member 1

ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
OMIM:615722
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More...

NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123

G

POU domain class 5, transcription factor 2

ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome

NCBI chr 2:7,907,504...7,908,738

CAPOS Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 3

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
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More...

NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918

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

phosphoribosyl pyrophosphate synthetase 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More...

NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187

Charlevoix-Saguenay spastic ataxia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and FYVE domain containing 1

OMIM:270550

NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition
OMIM:270550
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More...

NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335

G

sarcoglycan, gamma

ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia

PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148

G

transforming growth factor, beta receptor 1

ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE

PMID:25326637 PMID:28492532

NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777

childhood-onset dystonia with optic atrophy and basal ganglia abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial trans-2-enoyl-CoA reductase

ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More...

NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863

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

solute carrier family 44 member 1

ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline

PMID:25741868 PMID:28097321 PMID:31855247

NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909

deafness-dystonia-optic neuronopathy syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Deafness dystonia syndrome

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

translocase of inner mitochondrial membrane 8A1

DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)

ClinVar
CTD
OMIM
RGD

PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More...

RGD:13209130, RGD:13209136, RGD:13209134

NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960

dominant optic atrophy plus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OPA1, mitochondrial dynamin like GTPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

CTD
ClinVar
OMIM

PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More...

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

Doyne honeycomb retinal dystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EGF containing fibulin extracellular matrix protein 1

DNA:missense mutation:cds:p.R345W (human)
ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy
OMIM:126600
CTD Direct Evidence: marker/mechanism
protein:altered expression: :

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 More...

RGD:1598888, RGD:10401794, RGD:10401791

NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018

G

peripherin 2

ClinVar Annotator: match by term: MALATTIA LEVENTINESE

PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More...

NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454

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

ferredoxin 2

ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy

PMID:24281368 PMID:25741868 PMID:28492532

NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849

GAPO syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 1

susceptibility

DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAPO syndrome

OMIM
CTD
ClinVar
RGD

PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More...

NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232

Halperin-Birk syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SEC31 homolog A, COPII coat complex component

ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies

PMID:25741868 PMID:30464055

NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273

Hereditary Optic Atrophies

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium/calmodulin dependent serine protein kinase

RGD

NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694

G

guanylate cyclase 2D, retinal

ClinVar Annotator: match by term: Autosomal recessive optic atrophy

PMID:10951519 PMID:11328726 PMID:16199547 PMID:25741868 PMID:28492532

NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

CTD Direct Evidence: marker/mechanism

PMID:8662757 PMID:11695835

NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

CTD Direct Evidence: marker/mechanism

NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061

G

transmembrane protein 126A

ClinVar Annotator: match by term: Optic Atrophy, Recessive

NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628

infantile cerebellar-retinal degeneration

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aconitase 2

ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 More...

NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261

G

RNA polymerase III subunit H

ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration

PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 More...

NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778

isolated microphthalmia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881

G

apolipoprotein A1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein A4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469

G

apolipoprotein C3

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

archain 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247

G

Rho guanine nucleotide exchange factor 12

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366

G

ATP synthase membrane subunit G

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559

G

beta-secretase 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876

G

BCL9 like

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611

G

C1q and TNF related 5

ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More...

NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074

G

C2CD2-like

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

CD3 delta subunit of T-cell receptor complex

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147

G

centrosomal AT-AC splicing factor

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837

G

centrosomal protein 164

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336

G

C-X-C motif chemokine receptor 5

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893

G

DEAD-box helicase 6

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087

G

dynein regulatory complex subunit 12 homolog

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338

G

DS cell adhesion molecule-like 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320

G

forkhead box R1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880

G

FXYD domain-containing ion transport regulator 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203

G

FXYD domain-containing ion transport regulator 6

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958

G

glutamate ionotropic receptor kainate type subunit 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751

G

H2A.X variant histone

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239

G

histone H4 transcription factor

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000

G

hydroxymethylbilane synthase

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957

G

hypoxia up-regulated 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186

G

intraflagellar transport 46

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052

G

interleukin 10 receptor subunit alpha

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061

G

junction adhesion molecule like

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

G

melanoma cell adhesion molecule

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571

G

membrane frizzled-related protein

ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
CTD Direct Evidence: marker/mechanism
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)

OMIM
ClinVar
CTD
RGD

PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More...

NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859

G

myelin protein zero-like 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298

G

myelin protein zero-like 3

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787

G

NHERF family PDZ scaffold protein 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860

G

NLR family member X1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484

G

out at first homolog

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334

G

platelet-activating factor acetylhydrolase 1b, catalytic subunit 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705

G

pleckstrin homology-like domain, family B, member 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522

G

POU class 2 homeobox 3

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795

G

ring finger protein 214

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576

G

ring finger protein 26

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331

G

ribosomal protein s25

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271

G

sterol-C5-desaturase

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273

G

sodium voltage-gated channel beta subunit 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765

G

sodium voltage-gated channel beta subunit 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292

G

SID1 transmembrane family, member 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700

G

SIK family kinase 3

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444

G

solute carrier family 37 member 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301

G

sortilin related receptor 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513

G

transgelin

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668

G

tubulin folding cofactor E-like

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552

G

tectorin alpha

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707

G

Thy-1 cell surface antigen

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659

G

TLC domain containing 5

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290

G

transmembrane protein 25

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389

G

transmembrane serine protease 13

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938

G

transmembrane serine protease 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409

G

trafficking protein particle complex subunit 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491

G

trehalase

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540

G

tripartite motif-containing 29

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992

G

tetratricopeptide repeat domain 36

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,112,737...45,116,345

G

ubiquitination factor E4A

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038

G

uroplakin 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190

G

ubiquitin specific peptidase 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331

G

VPS11 core subunit of CORVET and HOPS complexes

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568

Leber hereditary optic neuropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein A4

protein:increased expression:cerebrospinal fluid (human)

RGD

NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469

G

epoxide hydrolase 1

onset

DNA:missense mutation:cds:p.Y113H (human)

RGD

NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

lecithin retinol acyltransferase

CTD Direct Evidence: marker/mechanism

PMID:16250670 PMID:17011878

NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619

G

mitochondrially encoded ATP synthase membrane subunit 6

susceptibility

DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.8668T>C, p.W48R (human)

ClinVar
CTD
RGD

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More...

RGD:5490293, RGD:5508187

NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599

G

mitochondrially encoded ATP synthase membrane subunit 8

ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More...

NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867

G

mitochondrially encoded cytochrome c oxidase II

ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689

G

mitochondrially encoded cytochrome c oxidase III

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7573056 More...

NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382

G

mitochondrially encoded cytochrome b

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 More...

NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

DNA:snp:cds:m.3635G>A (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.L289M (m.4171C>A) (human)
DNA:missense mutation:cds:m.3866T>C (p.I187T) (human)
DNA:snps:cds:m.4136A>G, m.4160T>C (human)
DNA:snp:cds:m.3394T>C (human)
DNA:transition:CDS:c.3460G>A, p.A52T (human)

ClinVar
CTD
RGD

PMID:1417830 PMID:1436530 PMID:1442494 PMID:1539598 PMID:1550128 More...

RGD:5508685, RGD:8657118, RGD:8657116, RGD:5508712, RGD:5508689, RGD:5508187

NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

DNA:transversion:CDS:c.4852T>A, p.L128Q (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 PMID:1900003 More...

NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

DNA: mutation
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

DNA:mutation:exon:p.R340H(human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.11778G>A (p.R340H) (human)
DNA:mutation:exon: 11778G>A
DNA:mutation: :m.11696G>A(human)

ClinVar
CTD
RGD

PMID:1346348 PMID:1352537 PMID:1417830 PMID:1436530 PMID:1469456 More...

RGD:1581057, RGD:5508187, RGD:5507829, RGD:5491183, RGD:1581059, RGD:1581058

NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L

DNA:missense mutation:cds:m.10680G>A (p.A71T) (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)

ClinVar
CTD
RGD

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

RGD:5686339, RGD:5686341

NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:mutation: :m.13708G>A (human)
DNA:mutation:exon:13042G>A (A236T) (human)
DNA:mutation:exon:p.Y159H(human)
DNA:mutation:: m.12338 T>C

ClinVar
CTD
RGD

PMID:1417830 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 More...

RGD:1581060, RGD:5507826, RGD:5491202, RGD:5491183, RGD:5491172

NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

DNA:SNP, haplotypes: :m.14484T>C (human)
OMIM:535000
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia
CTD Direct Evidence: marker/mechanism
DNA:mutation: :m.13997G>A (p.P25L) (mouse)
DNA:missense mutations, haplotypes:cds:multiple
DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)

MouseDO
ClinVar
CTD
RGD

PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 More...

RGD:8657119, RGD:8657127, RGD:8657125, RGD:8657123

NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061

G

NADH:ubiquinone oxidoreductase core subunit S2

ClinVar Annotator: match by term: Leber optic atrophy

NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420

G

presenilin associated, rhomboid-like

no_association

DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human)

RGD

PMID:20407791 PMID:20711738

RGD:12902617, RGD:12902618

NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506

G

prickle planar cell polarity protein 3

ClinVar Annotator: match by term: Leber optic atrophy
CTD Direct Evidence: marker/mechanism

NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218

G

retinol dehydrogenase 12

RGD

NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388

G

RP1, axonemal microtubule associated

ClinVar Annotator: match by term: Leber optic atrophy

NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363

G

retinoid isomerohydrolase RPE65

CTD Direct Evidence: marker/mechanism

PMID:16828753 PMID:17011878

NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403

G

RPGR interacting protein 1

RGD

NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605

G

superoxide dismutase 2

treatment

RGD

PMID:15293270 PMID:12601034

RGD:8158101, RGD:8158104

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

tumor protein p53

onset

DNA:polymorphism:cds:p.R72P(human)

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

Leber hereditary optic neuropathy and dystonia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies

PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868

NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798

Leber Hereditary Optic Neuropathy, Autosomal Recessive 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NADH:ubiquinone oxidoreductase core subunit S2

ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2

PMID:25741868 PMID:28031252

NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420

Leber Optic Atrophy, Susceptibility To

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C30

ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to

PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More...

NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to

PMID:1346348 PMID:1352537 PMID:1417830 PMID:1734726 PMID:1763894 More...

NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537

G

prickle planar cell polarity protein 3

NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218

Leber plus disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NADH:ubiquinone oxidoreductase complex assembly factor 5

ClinVar Annotator: match by term: Leber plus disease

NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477

G

prickle planar cell polarity protein 3

NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218

low tension glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 1

susceptibility

DNA:polymorphism:cds:p.R389G(human)

RGD

NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259

G

apolipoprotein E

susceptibility

DNA:polymorphism:exon:

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

brain-derived neurotrophic factor

protein:increased expression:tear:

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

caveolin 1

no_association

DNA:SNP:promoter:rs4236601 (human)

RGD

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

caveolin 2

susceptibility

DNA:SNP: :rs1052990 (human)

RGD

NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244

G

C-reactive protein

no_association

protein:increased expression:plasma:

RGD

PMID:16148587 PMID:22966842

RGD:9491770, RGD:9491771

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

endothelin 1

protein:increased expression:plasma (human)

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

heat shock protein family D (Hsp60) member 1

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

myocilin

susceptibility

DNA:Haplotype: :

RGD

NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127

G

optineurin

susceptibility

DNA:SNPs:exon,introns:
DNA:polymorphism:exon:p.M98K(human)
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)

PMID:16148883 PMID:15226658 PMID:15557444

RGD:7771548, RGD:7775043, RGD:7775041

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

G

solute carrier family 1 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402

G

solute carrier family 1 member 3

OMIM:606657

NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605

G

superoxide dismutase 1

protein:decreased expression:serum (human)
OMIM:606657

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

toll-like receptor 4

susceptibility
no_association

DNA:polymorphism,haplotype:multiple:
DNA:polymorphisms:multiple:

RGD

PMID:22831837 PMID:21921986

RGD:7794768, RGD:7794769

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

DNA:polymorphism, haplotype:promoter: -863C>A (human)

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

tumor protein p53

susceptibility

DNA:polymorphism:cds:p.R72P(rs1042522)(human)

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

macular retinal edema

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein H

associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous:

RGD

NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329

G

C-C motif chemokine ligand 2

severity

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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

clusterin

associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

erythropoietin

severity

RGD

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

fibroblast growth factor 2

associated with Diabetes Mellitus;protein:increased expression:aqueous humor

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

Fms related receptor tyrosine kinase 1

associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor:

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

hypoxia inducible factor 1 subunit alpha

associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human)

RGD

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

interleukin 6

associated with Retinal vein occlusion;protein:increased expression:vitreous:
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)

RGD

PMID:22066978 PMID:35799735

RGD:7829760, RGD:155582223

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

kinase insert domain receptor

associated with retinal vein occlusion;protein:increased expression:vitreous humor

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

microRNA 210

associated with central retinal vein occlusion;miRNA:increased expression:aqueous humor of eyeball (human)

RGD

NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454

G

norrin cystine knot growth factor NDP

CTD Direct Evidence: marker/mechanism

NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934

G

nitric oxide synthase 3

susceptibility

associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

serpin family F member 1

treatment

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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

vascular endothelial growth factor A

associated with retinal vein occlusion;protein:increased expression:vitreous humor
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor

CTD
RGD

PMID:20577866 PMID:23411880 PMID:35799735 PMID:17505145

RGD:8549772, RGD:155582223, RGD:8655594

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

mitochondrial DNA depletion syndrome 16B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mast cell immunoglobulin-like receptor 1

ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

PMID:25741868 PMID:28492532 PMID:31778857

NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282

G

DNA polymerase gamma 2, accessory subunit

ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

PMID:25741868 PMID:28492532 PMID:31778857

NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008

Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy

PMID:8967754 PMID:10746566 PMID:10976639 PMID:16199547 PMID:20484225 More...

NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535

neuromyelitis optica

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 4

disease_progression

CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)

CTD
RGD

PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:18420727 More...

RGD:5148024, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032

NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856

G

CD59 molecule; CRISPR/Cas9 induced mutant1, Ask

severity

RGD

G

CD59b molecule

severity

RGD

NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847

G

glial fibrillary acidic protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589

G

interleukin 21

protein:increased expression:cerebrospinal fluid (human)

RGD

NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 6

severity

protein:increased expression:serum, cerebral spinal fluid:

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

myelin basic protein

CTD Direct Evidence: marker/mechanism

NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404

G

matrix metallopeptidase 9

protein:increased expression:serum

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

neurofilament heavy chain

protein:increased expression:serum:

RGD

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

G

neurofilament light chain

protein:increased expression:serum (human)

RGD

NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)

RGD

PMID:21908482 PMID:27049564

RGD:7421588, RGD:11530523

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

S100 calcium binding protein B

RGD

NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743

non-arteritic anterior ischemic optic neuropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

onset

DNA:insertion/deletion:intron

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

C-reactive protein

protein:increased expression:blood:

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

coagulation factor V

DNA:missense mutation:cds:p.R506Q (1691G>A) (human)

RGD

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

glycoprotein Ib platelet subunit alpha

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO

CTD
ClinVar
OMIM

PMID:12038791 PMID:18492106 PMID:25741868 PMID:28748566 PMID:29232918

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

G

integrin subunit beta 3

susceptibility

DNA:polymorphism: :

RGD

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

G

methylenetetrahydrofolate reductase

susceptibility

DNA:polymorphism: :677C>T(human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

Nuclear Type Mitochondrial Complex I Deficiency 38

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C30

ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive

PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More...

NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408

optic atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AFG3 like matrix AAA peptidase subunit 2

ClinVar Annotator: match by term: Optic atrophy

PMID:26539208 PMID:29181157 PMID:32219868

NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110

G

CYFIP related Rac1 interactor A

ClinVar Annotator: match by term: Optic atrophy

NCBI chr 6:35,045,208...35,150,669
Ensembl chr 6:35,045,208...35,150,668

G

DEAD-box helicase 1

ClinVar Annotator: match by term: Optic atrophy

NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365

G

dynamin 1-like

CTD Direct Evidence: marker/mechanism

NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482

G

mitochondrial trans-2-enoyl-CoA reductase

ClinVar Annotator: match by term: Optic atrophy

PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More...

NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Optic atrophy

NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Optic atrophy

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

G

NADH:ubiquinone oxidoreductase core subunit S3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824

G

nicotinamide nucleotide adenylyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180

G

ornithine aminotransferase

ClinVar Annotator: match by term: Optic atrophy

NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682

G

OPA1, mitochondrial dynamin like GTPase

DNA:splice-site mutation, insertion:intron:c.579_580insTT, c.871-1G>T (human)
ClinVar Annotator: match by term: Optic atrophy
OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708

ClinVar
MouseDO
RGD

PMID:11440988 PMID:12036970 PMID:19112530 PMID:19319978 PMID:19969356 More...

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

G

ribosomal protein L24

OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708

NCBI chr11:44,653,937...44,659,346
Ensembl chr11:44,653,937...44,659,370

G

reticulon 4 interacting protein 1

ClinVar Annotator: match by term: Optic atrophy

NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338

G

stem-loop histone mRNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906

G

solute carrier family 25, member 46

CTD Direct Evidence: marker/mechanism

NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314

G

synaptosome associated protein 25

ClinVar Annotator: match by term: Optic atrophy

PMID:25741868 PMID:33299146

NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760

G

tubulin folding cofactor D

CTD Direct Evidence: marker/mechanism

NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122

G

wolframin ER transmembrane glycoprotein

DNA:missense mutation:cds:p.R456H (rs1801206) (human)

RGD

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

optic atrophy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OPA1, mitochondrial dynamin like GTPase

DNA:nonsense mutation:exon:p.Q285X (mouse)
ClinVar Annotator: match by term: Dominant hereditary optic atrophy | ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron:c.1065+5G>A (mouse)
DNA:mutations:multiple
DNA:duplication:exons, introns:g.194832822_194840568dup (human)
DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple
DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human)
DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple
DNA:SNPs, deletions:exons:multiple

ClinVar
OMIM
CTD
RGD

PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 More...

RGD:7800686, RGD:7800716, RGD:7800715, RGD:7800709, RGD:7800708, RGD:7800706, RGD:7800704, RGD:7800699

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

G

outer mitochondrial membrane lipid metabolism regulator OPA3

ClinVar Annotator: match by term: Optic Atrophy, Dominant

NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469

G

wolframin ER transmembrane glycoprotein

DNA:missense mutations, deletion:multiple

RGD

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

optic atrophy 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

reticulon 4 interacting protein 1

ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:25741916 PMID:26593267 PMID:28492532 PMID:28638143 More...

NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338

optic atrophy 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

YME1-like 1 ATPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy 11

OMIM
CTD
ClinVar

PMID:25741868 PMID:27495975 PMID:28492532

NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335

optic atrophy 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AFG3 like matrix AAA peptidase subunit 2

ClinVar Annotator: match by term: Optic atrophy 12

PMID:25741868 PMID:25741914 PMID:26467025 PMID:26539208 PMID:26633542 More...

NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110

G

tubulin, beta 6 class V

ClinVar Annotator: match by term: Optic atrophy 12

NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418

Optic Atrophy 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

single stranded DNA binding protein 1

ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities

PMID:25741868 PMID:31298765 PMID:31550237 PMID:31550240 PMID:36909829

NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135

Optic Atrophy 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial elongation factor 1

ClinVar Annotator: match by term: Optic atrophy 14

NCBI chr 7:111,786,630...111,802,220
Ensembl chr 7:111,786,709...111,802,220

Optic Atrophy 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

malonyl-CoA-acyl carrier protein transacylase

ClinVar Annotator: match by term: Optic atrophy 15

NCBI chr 7:114,693,612...114,705,677
Ensembl chr 7:114,693,612...114,704,542

Optic Atrophy 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial trans-2-enoyl-CoA reductase

ClinVar Annotator: match by term: Optic atrophy 16

PMID:25741868 PMID:27817865 PMID:28492532 PMID:31137067 PMID:32313153 More...

NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863

optic atrophy 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 45

ClinVar Annotator: match by term: Optic atrophy 2

NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202

optic atrophy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

outer mitochondrial membrane lipid metabolism regulator OPA3

ClinVar Annotator: match by term: Optic atrophy 3 | ClinVar Annotator: match by term: Optic atrophy, cataract, and neurologic disorder
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 More...

NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469

optic atrophy 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1-like

ClinVar Annotator: match by term: Optic atrophy 5
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:15635063 PMID:16199547 PMID:20696759 PMID:25326637 PMID:25741868 More...

NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482

G

tyrosyl-tRNA synthetase 2

ClinVar Annotator: match by term: Optic atrophy 5

NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125

optic atrophy 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane protein 126A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7

OMIM
CTD
ClinVar

PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 More...

NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628

optic atrophy 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aconitase 2

ClinVar Annotator: match by term: ACO2-related condition | ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25351951 PMID:25741868 PMID:28492532 PMID:30689204 PMID:32449285 More...

NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261

G

N-acetyl-alpha-glucosaminidase

ClinVar Annotator: match by term: Optic atrophy 9

PMID:20852935 PMID:23667853 PMID:25520920 PMID:25741868 PMID:26907177 More...

NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972

G

RNA polymerase III subunit H

ClinVar Annotator: match by term: ACO2-related condition | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9

PMID:25351951 PMID:25741868 PMID:28492532 PMID:32449285 PMID:34056600

NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778

OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ferredoxin reductase

ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

PMID:25741868 PMID:30250212

NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658

Optic Nerve Aplasia, Bilateral

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired box 6

ClinVar Annotator: match by term: Optic nerve aplasia, bilateral

NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014

optic nerve glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALX homeobox 4

ClinVar Annotator: match by term: Optic nerve glioma

NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260

G

C-X3-C motif chemokine receptor 1

onset

associated with Neurofibromatosis 1

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

neurofibromin 1

susceptibility

associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma

PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 More...

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

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

SRY-box transcription factor 2

ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system

PMID:16932809 PMID:22421044 PMID:25741868 PMID:28492532

NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338

Optic Nerve Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase 10

protein:decreased expression:retina

RGD

NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951

G

activity-dependent neuroprotector homeobox

RGD

NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312

G

adhesion molecule with Ig like domain 3

treatment

RGD

NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555

G

aquaporin 4

RGD

NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856

G

aquaporin 9

RGD

NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395

G

arginase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378

G

activating transcription factor 2

RGD

NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236

G

BCL2 associated X, apoptosis regulator

mRNA:increased expression:optic nerve, retina

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

mRNA:decreased expression:optic nerve, retina

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

brain-derived neurotrophic factor

treatment

RGD

PMID:15140649 PMID:11050383 PMID:9520478

RGD:8655584, RGD:8655586, RGD:8655637

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

complement C3

mRNA:increased expression:optic nerve

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

cyclin dependent kinase 2

mRNA:increased expression:retina

RGD

NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403

G

cofilin 1

treatment

RGD

NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587

G

clusterin

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

colony stimulating factor 1 receptor

mRNA:increased expression:retina (rat)

RGD

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

colony stimulating factor 3

treatment

RGD

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

cathepsin B

protein:increased expression:retina (rat)

RGD

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

endothelin 1

protein:increased expression:retina

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

endothelin receptor type A

mRNA:increased expression:retina

RGD

NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049

G

endothelin receptor type B

mRNA:increased expression:retina

RGD

NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115

G

E1A binding protein p300

protein:decreased expression:retinal ganglion cell layer (rat)
human gene in rat model

RGD

PMID:21705428 PMID:21705428

RGD:7349392, RGD:7349392

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

fibroblast growth factor 2

treatment

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

FTO, alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:retina

RGD

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

glial cell derived neurotrophic factor

RGD

NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209

G

GDNF family receptor alpha 1

RGD

NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473

G

GDNF family receptor alpha 2

RGD

NCBI chr15:45,941,841...46,033,715
Ensembl chr15:45,941,828...46,033,714

G

hepatocyte growth factor

treatment

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

insulin-like growth factor 1 receptor

protein: altered activity: eye
protein:increased expression:retina:

RGD

PMID:19484445 PMID:23648097

RGD:5686431, RGD:10046025

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

Jun proto-oncogene, AP-1 transcription factor subunit

RGD

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

potassium inwardly-rectifying channel, subfamily J, member 10

RGD

NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461

G

mitochondrially encoded cytochrome c oxidase I

mRNA:increased expression:retina

RGD

NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867

G

myelin regulatory factor

mRNA:decreased expression: oligodendrocyte

RGD

NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157

G

nicotinamide phosphoribosyltransferase

treatment

RGD

NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100

G

neural cell adhesion molecule 1

RGD

NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014

G

neurofilament medium chain

RGD

NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755

G

neogenin 1

protein:increased expression:retina

RGD

NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348

G

nerve growth factor

protein:increased expression:retina

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nerve growth factor receptor

RGD

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

G

neurotrophic receptor tyrosine kinase 1

RGD

NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770

G

neurotrophic receptor tyrosine kinase 2

RGD

NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136

G

pro-apoptotic WT1 regulator

mRNA:increased expression:retina:

RGD

NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028

G

paired box 6

protein:increased expression:retina (rat)

RGD

NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014

G

platelet derived growth factor subunit B

protein:decreased expression:nerve fiber:

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:optic nerve (rat)

RGD

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

plasminogen activator, urokinase

mRNA:increased expression:optic nerve (rat)

RGD

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

protein tyrosine phosphatase, non-receptor type 5

protein:increased expression:retina (rat)

RGD

NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882

G

ras homolog family member A

protein:increased expression, altered localization:retina

RGD

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

SNW domain containing 1

protein:increased expression:retina (rat)

RGD

NCBI chr 6:107,095,450...107,119,536
Ensembl chr 6:107,095,457...107,119,536

G

toll-like receptor 4

protein:increased expression:optic nerve

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

TNF receptor superfamily member 1A

RGD

PMID:18552980 PMID:14697498

RGD:7794683, RGD:8661743

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNFRSF1A-associated via death domain

protein:increased expression: retina

RGD

NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638

G

Y box binding protein 3

mRNA:increased expression:retinal ganglion cell

RGD

NCBI chr 4:165,129,747...165,153,101
Ensembl chr 4:165,129,758...165,153,161

optic neuritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 4

disease_progression

RGD

PMID:23024849 PMID:22157536

RGD:8696036, RGD:9685553

NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856

G

calpain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177

G

catalase

treatment

associated with Encephalomyelitis, Autoimmune, Experimental;

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine receptor 5

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

chondroitin sulfate proteoglycan 4

associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve

RGD

NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010

G

glutathione S-transferase mu 1

DNA:deletion, haplotype:cds (human)

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion, haplotype:cds (human)

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

myelin oligodendrocyte glycoprotein

RGD

PMID:22157536 PMID:23860028

RGD:9685553, RGD:9685554

NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474

G

neurofilament heavy chain

severity

protein:increased expression:serum:

RGD

PMID:29085182 PMID:15258226

RGD:27226813, RGD:27226814

NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphism:cds:HLA-DQB1*0602 (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

associated with Encephalomyelitis, Autoimmune, Experimental;

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

superoxide dismutase 2

associated with Encephalomyelitis, Autoimmune, Experimental;

RGD

PMID:17251466 PMID:17251466

RGD:8158052, RGD:8158052

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

PEHO syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled coil domain containing 88A

ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome

PMID:25741868 PMID:26917597 PMID:28492532

NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368

G

insulin-like growth factor 1

protein:decreased expression:cerebrospinal fluid:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

kinesin family member 1A

ClinVar Annotator: match by term: PEHO syndrome

PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 More...

NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480

G

zinc finger, HIT-type containing 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome

OMIM
CTD
ClinVar

PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081

NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475
Ensembl chr10:69,748,789...69,790,475

Progressive Encephalopathy with Amyotrophy and Optic Atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,3-N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy

NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469

G

tubulin folding cofactor E

ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:27666369 PMID:28492532 PMID:34134906 PMID:34356170

NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089

Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-kinase 1

ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome

PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More...

NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157

Roifman-Chitayat Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinetochore-localized astrin/SPAG5 binding protein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic

OMIM
CTD
ClinVar

PMID:19863561 PMID:29180244

NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta

ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 More...

NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930

Senior-Loken syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708

G

centrosomal protein 290

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

PMID:25741868 PMID:28492532

NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392

G

IQ motif containing B1

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More...

NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093

G

nephrocystin 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis
ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More...

NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234

G

nephrocystin 4

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

PMID:25741868 PMID:28492532

NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706

G

RNA 5'-phosphate and 3'-OH ligase 1

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600

G

SHH signaling and ciliogenesis regulator SDCCAG8

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111

G

transmembrane protein 218

OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615

NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Renal-retinal syndrome

PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More...

NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903

G

WD repeat domain 19

DNA:missense mutations, frameshift mutations, snp:multiple (human)
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome

PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 More...

NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288

Senior-Loken Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nephrocystin 1

ClinVar Annotator: match by term: Senior-Loken syndrome 1

PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More...

NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234

Senior-Loken Syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nephrocystin 4

ClinVar Annotator: match by term: Senior-Loken syndrome 4
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More...

NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706

Senior-Loken Syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

IQ motif containing B1

ClinVar Annotator: match by term: Senior-Loken syndrome 5
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations:exon:multiple

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More...

NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093

Senior-Loken Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 290

ClinVar Annotator: match by term: Senior-Loken syndrome 6
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More...

NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392

G

RNA 5'-phosphate and 3'-OH ligase 1

ClinVar Annotator: match by term: Senior-Loken syndrome 6

PMID:20683928 PMID:25741868 PMID:28492532

NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600

Senior-Loken Syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylosuccinate synthase 2

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Senior-Loken syndrome 7

PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 More...

NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708

G

catsper channel auxiliary subunit epsilon

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:89,799,669...89,954,723
Ensembl chr13:89,819,244...89,950,979

G

centrosomal protein 170

ClinVar Annotator: match by term: Senior-Loken syndrome 7

PMID:20835237 PMID:22190896 PMID:28492532

NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226

G

cytochrome c oxidase assembly factor COX20

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:90,065,900...90,075,386

G

desumoylating isopeptidase 2

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:89,961,767...90,011,255
Ensembl chr13:89,961,934...90,016,416

G

heterogeneous nuclear ribonucleoprotein U

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588

G

phospholipase D family, member 5

ClinVar Annotator: match by term: Senior-Loken syndrome 7

PMID:20835237 PMID:28492532

NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868

G

SHH signaling and ciliogenesis regulator SDCCAG8

ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 More...

NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111

G

sperm microtubule inner protein 3

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817

G

zinc finger and BTB domain containing 18

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862

Senior-Loken Syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 19

ClinVar Annotator: match by term: Senior-Loken syndrome 8

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 More...

NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288

Senior-Loken Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TRAF3 interacting protein 1

ClinVar Annotator: match by term: Senior-Loken syndrome 9

PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549

NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977

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 subunit of NRZ tethering complex

ClinVar Annotator: match by term: NBAS-related condition | ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20577004 PMID:24033266 More...

NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984

spastic ataxia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AFG3 like matrix AAA peptidase subunit 2

onset

DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:22022284

NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110

G

AT hook, DNA binding motif, containing 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145

G

alpha-methylacyl-CoA racemase

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255

G

adenosine monophosphate deaminase 2

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271

G

apolipoprotein B

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:34445196

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

arylsulfatase A

ClinVar Annotator: match by term: Spastic ataxia

PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More...

NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783

G

ATPase Na+/K+ transporting subunit alpha 2

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Spastic ataxia

PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More...

NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636

G

similar to human chromosome 19 open reading frame 12

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025

NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225

G

calcium voltage-gated channel subunit alpha1 G

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752

G

calcium voltage-gated channel auxiliary subunit beta 4

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944

G

coiled-coil domain containing 88C

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555

G

centrosomal protein 290

ClinVar Annotator: match by term: Spastic ataxia

PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 More...

NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392

G

CLN6, transmembrane ER protein

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360

G

coenzyme Q4

ClinVar Annotator: match by term: Spastic ataxia

PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 More...

NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799

G

cytochrome P450 family 7 subfamily B member 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698

G

DAB adaptor protein 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552

G

aspartyl-tRNA synthetase 2 (mitochondrial)

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934

G

DNA methyltransferase 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

ELOVL fatty acid elongase 4

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697

G

ERCC excision repair 4, endonuclease catalytic subunit

ClinVar Annotator: match by term: Spastic ataxia

PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532

NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369

G

exosome component 8

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 2:138,930,405...138,937,009
Ensembl chr 2:138,930,405...138,936,928

G

fatty acid 2-hydroxylase

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:34445196

NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153

G

FAT atypical cadherin 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216

G

filamin C

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844

G

galactosylceramidase

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 More...

NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830

G

gap junction protein, gamma 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 More...

NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467

G

galactosidase, beta 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 More...

NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127

G

histidyl-tRNA synthetase 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196

NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740

G

4-hydroxyphenylpyruvate dioxygenase-like

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:32707086 PMID:33970200

NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233

G

inositol 1,4,5-trisphosphate receptor, type 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025

NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491

G

potassium calcium-activated channel subfamily M alpha 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198

G

kinesin family member 1A

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480

G

kinesin family member 1C

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480

G

MKS transition zone complex subunit 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655

G

mitochondrial poly(A) polymerase

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538

G

N-acetyl-alpha-glucosaminidase

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Spastic ataxia

PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532

NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965

G

phosphoinositide-3-kinase, regulatory subunit 5

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374

G

phospholipase A2 group VI

ClinVar Annotator: match by term: Spastic ataxia

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532

NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114

G

patatin-like phospholipase domain containing 6

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:32579787

NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734

G

palmitoyl-protein thioesterase 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More...

NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048

G

pumilio RNA-binding family member 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335

G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214

G

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292

G

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:34445196

NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740

G

senataxin

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278

NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803

G

solute carrier family 1 member 3

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605

G

solute carrier family 25, member 46

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196

NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314

G

spastin

ClinVar Annotator: match by term: Spastic ataxia

PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 More...

NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954

G

SPG11 vesicle trafficking associated, spatacsin

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911

G

spectrin, alpha, non-erythrocytic 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046

G

syntaxin binding protein 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More...

NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 More...

NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322

G

spectrin repeat containing nuclear envelope protein 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064

G

transmembrane protein 67

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334

G

tau tubulin kinase 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223

G

tubulin, beta 3 class III

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Spastic ataxia

PMID:12955714 PMID:15605410 PMID:17603484 PMID:18060660 PMID:20301750 More...

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

spastic ataxia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TAP binding protein-like

ClinVar Annotator: match by term: Spastic ataxia 1

PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More...

NCBI chr 4:158,021,454...158,028,905

G

vesicle-associated membrane protein 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 1

OMIM
CTD
ClinVar

PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More...

NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349

Spastic Ataxia 10, Autosomal Recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coenzyme Q4

ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive

PMID:9536098 PMID:17576681 PMID:25741868 PMID:26185144 PMID:28492532 More...

NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799

spastic ataxia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

similar to human chromosome 17 open reading frame 107

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196

G

calmodulin binding transcription activator 2

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,383,450...55,401,838
Ensembl chr10:55,383,450...55,401,558

G

cholinergic receptor nicotinic epsilon subunit

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530

G

enolase 3

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

G

inhibitor of CDK, cyclin A1 interacting protein 1

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,401,989...55,414,364
Ensembl chr10:55,401,982...55,414,114

G

kinesin family member 1C

ClinVar Annotator: match by term: Spastic ataxia 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More...

NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545

G

profilin 1

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631

G

ring finger protein 167

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927

G

solute carrier family 25 member 11

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410

G

sperm associated antigen 7

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,377,249...55,383,404
Ensembl chr10:55,377,249...55,383,404

spastic ataxia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

methionyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Spastic ataxia 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:22448145 PMID:25741868 PMID:25741913 PMID:28492532

NCBI chr 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Autosomal recessive spastic ataxia

PMID:20876471 PMID:21450511 PMID:24033266 PMID:24180463 PMID:25741868

NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335

spastic ataxia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial poly(A) polymerase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4

OMIM
CTD
ClinVar

PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 More...

NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538

spastic ataxia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AFG3 like matrix AAA peptidase subunit 2

ClinVar Annotator: match by term: Spastic ataxia 5
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:22022284 PMID:25401298 PMID:25741868 PMID:25741914 PMID:26454370 More...

NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110

G

tubulin, beta 6 class V

ClinVar Annotator: match by term: Spastic ataxia 5

PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532

NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418

spastic ataxia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NK6 homeobox 2

ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 More...

NCBI chr 1:194,380,149...194,383,533
Ensembl chr 1:194,381,975...194,383,515

Spastic Ataxia 9, Autosomal Recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcineurin-like EF-hand protein 1

NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251

SPOAN syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin light chain 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPOAN syndrome

OMIM
CTD
ClinVar

PMID:24482476 PMID:25741868 PMID:26385635 PMID:28492532

NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672

Warburg micro syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB18, member RAS oncogene family

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome

PMID:25741868 PMID:28492532

NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043

G

RAB3 GTPase activating protein catalytic subunit 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome

PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747

NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169

G

RAB3 GTPase activating non-catalytic protein subunit 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome

NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478

G

TBC1 domain family, member 20

CTD Direct Evidence: marker/mechanism

NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121

Warburg micro syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB3 GTPase activating protein catalytic subunit 1

ClinVar Annotator: match by term: RAB3GAP1-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 1

PMID:8249951 PMID:9536098 PMID:15216543 PMID:15696165 PMID:16199547 More...

NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169

Warburg micro syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB3 GTPase activating non-catalytic protein subunit 2

ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2

PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 More...

NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478

Warburg micro syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB18, member RAS oncogene family

OMIM:614222
ClinVar Annotator: match by term: Warburg micro syndrome 3

OMIM
MouseDO
ClinVar

PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443

NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043

Warburg micro syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TBC1 domain family, member 20

OMIM:615663
ClinVar Annotator: match by term: Warburg micro syndrome 4

OMIM
MouseDO
ClinVar

PMID:24239381 PMID:25741868 PMID:32740904

NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121

Wolfram syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

DNA:snp:cds:m.4216T>C (human)

RGD

NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 More...

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

Wolfram syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM:222300

OMIM
ClinVar
MouseDO

PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More...

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

Wolfram syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CDGSH iron sulfur domain 2

ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More...

RGD:10045603, RGD:10045601

NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946

G

CDGSH iron sulfur domain 3

ClinVar Annotator: match by term: Wolfram syndrome 2

NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550

G

polycomb group ring finger 2

ClinVar Annotator: match by term: Wolfram syndrome 2

NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406

G

solute carrier family 9 member B1

ClinVar Annotator: match by term: Wolfram syndrome 2

PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532

NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179

X-linked mental retardation Gustavson type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA binding motif protein, X-linked

ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743

Term paths to the root

Path 1
Term	Annotations
disease	21128
sensory system disease	6940
eye disease	3477
optic nerve disease	371
Optic Nerve Aplasia, Bilateral	1
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System	1
Optic Nerve Injuries	52
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome	1
Roifman-Chitayat Syndrome	2
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 +	189
optic disk drusen +	74
optic nerve neoplasm +	3
optic neuritis +	35
papilledema +	0
pseudopapilledema	0
Path 2
Term	Annotations
disease	21128
disease of anatomical entity	18211
nervous system disease	14059
Neurologic Manifestations	10039
sensory system disease	6940
eye disease	3477
optic nerve disease	371
Optic Nerve Aplasia, Bilateral	1
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System	1
Optic Nerve Injuries	52
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome	1
Roifman-Chitayat Syndrome	2
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 +	189
optic disk drusen +	74
optic nerve neoplasm +	3
optic neuritis +	35
papilledema +	0
pseudopapilledema	0

paths to the root