cranial nerve disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	cranial nerve disease	go back to main search page
Accession:	DOID:5656	browse the term
Definition:	A neuropathy that is located_in one of the twelve cranial nerves. (DO)
Synonyms:	exact_synonym:	Cranial Nerve Disorder; Cranial Neuropathies; Cranial Neuropathy; Multiple Cranial Neuropathies; cranial nerve diseases; cranial nerve disorders; disorder of cranial nerve; multiple cranial neuropathy; nervus cranialis disorder; nervus cranialis disorders
	primary_id:	MESH:D003389
	xref:	ICD10CM:G52.9; ICD9CM:352.9; NCI:C26733
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (693) Mouse (719) Human (17057) Chinchilla (645) Bonobo (680) Dog (684) Squirrel (652) Pig (676) Green Monkey (678) Naked Mole-rat (643) All
Genes (645)

3-methylglutaconic aciduria type 3

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Object Name

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Evidence

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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 chrNW_004955420:9,974,466...9,978,789
Ensembl chrNW_004955420:9,953,045...9,978,789

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

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

NCBI chrNW_004955574:60,652...82,343
Ensembl chrNW_004955574:60,652...82,343

3MC syndrome 2

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RGD Reference(s)

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G

collectin subfamily member 11

ClinVar Annotator: match by term: 3MC syndrome 2

PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More...

NCBI chrNW_004955487:3,778,901...3,789,852
Ensembl chrNW_004955487:3,778,858...3,790,080

G

MBL associated serine protease 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955420:20,540,266...20,605,830
Ensembl chrNW_004955420:20,540,016...20,605,854

G

solute carrier family 26 member 2

ClinVar Annotator: match by term: OSA syndrome

PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More...

NCBI chrNW_004955415:4,540,302...4,556,360
Ensembl chrNW_004955415:4,540,302...4,556,360

acoustic neuroma

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artemin

mRNA:increased expression:peripheral nerve:

NCBI chrNW_004955537:3,460,176...3,464,335
Ensembl chrNW_004955537:3,460,176...3,464,335

G

brain derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588

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caveolin 1

NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403

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cyclin dependent kinase inhibitor 1A

mRNA,protein:decreased expression:myelinated nerve:

NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

DNA:missense mutation:cds:p.D312N (rs1799793) (human)

NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599

G

fibroblast growth factor receptor 1

disease_progression

NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111

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glial cell derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324

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insulin like growth factor 1

susceptibility

protein:increased expression:serum:

NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152

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insulin like growth factor binding protein 3

susceptibility

protein:increased expression:serum:

NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845

G

cytochrome P450 2E1

DNA:snp:promoter:c.-1053C>T (human)

NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193

G

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

protein:decreased expression:myelinated nerve:

NCBI chrNW_004955455:3,862,804...3,950,669
Ensembl chrNW_004955455:3,862,347...3,951,891

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vascular endothelial growth factor A

NCBI chrNW_004955437:9,527,445...9,541,908

Alazami-Yuan Syndrome

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adaptor related protein complex 4 subunit mu 1

ClinVar Annotator: match by term: Alazami-Yuan syndrome

PMID:25741868 PMID:28492532

NCBI chrNW_004955573:759,222...763,222
Ensembl chrNW_004955573:759,222...763,222

G

La ribonucleoprotein 7, transcriptional regulator

ClinVar Annotator: match by term: Alazami-Yuan syndrome

PMID:25741868 PMID:26374271 PMID:29619239 PMID:30006060 PMID:30426380 More...

NCBI chrNW_004955457:14,178,674...14,200,164
Ensembl chrNW_004955457:14,178,947...14,192,193

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TATA-box binding protein associated factor 6

ClinVar Annotator: match by term: Alazami-Yuan syndrome

PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532

NCBI chrNW_004955573:752,646...759,292
Ensembl chrNW_004955573:752,601...759,292

anterior ischemic optic neuropathy

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G

beclin 1

protein:decreased expression:retina

NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730

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colony stimulating factor 3

treatment

NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126

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nitric oxide synthase 3

susceptibility

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

NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814

ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY

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NIMA related kinase 9

ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy

PMID:25741868 PMID:26633546 PMID:28492532

NCBI chrNW_004955523:443,832...483,397
Ensembl chrNW_004955523:446,748...482,246

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

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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 chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663

Athabaskan brainstem dysgenesis syndrome

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homeobox A1

ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome

PMID:16155570 PMID:18412118 PMID:25741868 PMID:28492532

NCBI chrNW_004955410:28,788,245...28,790,971
Ensembl chrNW_004955410:28,787,817...28,790,962

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homeobox A2

ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome

NCBI chrNW_004955410:28,794,878...28,798,231
Ensembl chrNW_004955410:28,794,878...28,798,231

Auditory Neuropathy and Optic Atrophy

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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 chrNW_004955553:1,746,759...1,755,316
Ensembl chrNW_004955553:1,746,670...1,755,315

autoimmune optic neuritis

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G

neurofilament heavy chain

severity

NCBI chrNW_004955455:3,735,330...3,744,714
Ensembl chrNW_004955455:3,735,410...3,744,107

autosomal dominant distal hereditary motor neuronopathy 7

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G

coiled-coil domain containing 138

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chrNW_004955470:12,249,279...12,305,099
Ensembl chrNW_004955470:12,251,682...12,305,973

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ectodysplasin A receptor

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chrNW_004955470:12,310,680...12,362,555
Ensembl chrNW_004955470:12,309,048...12,362,570

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GRIP and coiled-coil domain containing 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chrNW_004955470:12,011,606...12,053,625
Ensembl chrNW_004955470:12,011,708...12,055,907

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LIM zinc finger domain containing 1

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chrNW_004955470:12,142,997...12,158,273

G

RAN binding protein 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chrNW_004955470:12,180,426...12,247,737
Ensembl chrNW_004955470:12,180,544...12,249,555

G

solute carrier family 5 member 7

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia

PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More...

NCBI chrNW_004955470:11,673,491...11,694,404
Ensembl chrNW_004955470:11,673,465...11,697,163

autosomal dominant progressive external ophthalmoplegia 1

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PubMed Reference(s)

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G

FA complementation group I

ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More...

NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480

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DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:11431686 More...

NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651

G

twinkle mtDNA helicase

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 More...

NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

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G

solute carrier family 25 member 4

ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More...

NCBI chrNW_004955403:23,878,329...23,882,322
Ensembl chrNW_004955403:23,878,329...23,882,322

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3

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PubMed Reference(s)

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twinkle mtDNA helicase

ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 More...

NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

term browser

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PubMed Reference(s)

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G

mast cell immunoglobulin like receptor 1

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More...

NCBI chrNW_004955478:7,416,609...7,429,817

G

DNA polymerase gamma 2, accessory subunit

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More...

NCBI chrNW_004955478:7,376,240...7,396,647
Ensembl chrNW_004955478:7,376,712...7,396,647

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5

term browser

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ribonucleotide reductase regulatory TP53 inducible subunit M2B

ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

PMID:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 More...

NCBI chrNW_004955417:26,949,686...26,976,976
Ensembl chrNW_004955417:26,949,686...26,976,726

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6

term browser

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DNA replication helicase/nuclease 2

ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy

PMID:23352259 PMID:25741868 PMID:28492532 PMID:31478350

NCBI chrNW_004955425:20,664,412...20,705,070
Ensembl chrNW_004955425:20,661,727...20,702,754

autosomal dominant Wolfram syndrome

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G

cyclin dependent kinase 13

ClinVar Annotator: match by term: Wolfram-like disorder

PMID:25741868 PMID:28492532 PMID:33879837

NCBI chrNW_004955460:3,590,854...3,701,148

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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

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

NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610

autosomal recessive congenital nystagmus

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roundabout guidance receptor 1

ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive

PMID:25741868 PMID:28492532 PMID:35348658

NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053

autosomal recessive progressive external ophthalmoplegia 1

term browser

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PubMed Reference(s)

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G

FA complementation group I

ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1

PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More...

NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480

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mutS homolog 6

ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1

PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More...

NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227

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PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 More...

NCBI chrNW_004955460:13,762,854...13,791,462

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DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1

PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More...

NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2

term browser

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G

ribonuclease H1

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084

NCBI chrNW_004955487:3,808,426...3,815,682
Ensembl chrNW_004955487:3,808,419...3,815,682

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3

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thymidine kinase 2

ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 More...

NCBI chrNW_004955433:23,075,930...23,106,281
Ensembl chrNW_004955433:23,075,879...23,106,288

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4

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deoxyguanosine kinase

ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

PMID:9536098 PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 More...

NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5

term browser

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DNA topoisomerase III alpha

ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:36544354 More...

NCBI chrNW_004955478:11,015,378...11,045,717
Ensembl chrNW_004955478:11,015,378...11,045,717

Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6

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ribonucleotide reductase catalytic subunit M1

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder

NCBI chrNW_004955414:19,850,523...19,904,879
Ensembl chrNW_004955414:19,850,530...19,905,266

Behr syndrome

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OPA1 mitochondrial dynamin like GTPase

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

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

NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081

Bell's palsy

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G

peptidylprolyl isomerase A

exacerbates

protein:increased expression:blood serum (human)

NCBI chrNW_004955456:7,381,923...7,383,203

Benign Childhood Paroxysmal Tonic Upgaze with Ataxia

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G

diacylglycerol lipase alpha

NCBI chrNW_004955511:5,952,134...5,997,280
Ensembl chrNW_004955511:5,952,087...5,974,172

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

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

NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162

Blepharophimosis Syndrome Type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box L2

ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1

PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More...

NCBI chrNW_004955501:83,965...84,476

Blepharophimosis Syndrome Type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box L2

ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure

PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More...

NCBI chrNW_004955501:83,965...84,476

blepharophimosis, ptosis, and epicanthus inversus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

COPI coat complex subunit beta 2

ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome

NCBI chrNW_004955508:6,201,989...6,231,840
Ensembl chrNW_004955508:6,201,989...6,231,845

G

forkhead box L2

ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome

PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 More...

NCBI chrNW_004955501:83,965...84,476

G

mitochondrial ribosomal protein S22

ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome

NCBI chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633

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 chrNW_004955418:18,213,824...18,624,082
Ensembl chrNW_004955418:18,245,947...18,589,185

G

KIAA0825 ortholog

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

NCBI chrNW_004955418:17,818,641...18,203,402
Ensembl chrNW_004955418:17,851,078...17,995,990

G

nuclear receptor subfamily 2 group F member 1

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

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

NCBI chrNW_004955418:18,615,548...18,622,984
Ensembl chrNW_004955418:18,614,995...18,624,584

G

POU domain class 5, transcription factor 2

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

NCBI chrNW_004955418:18,493,622...18,494,871

BROWN SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MAF bZIP transcription factor B

ClinVar Annotator: match by term: Brown syndrome

NCBI chrNW_004955445:16,219,675...16,222,913

G

TOG array regulator of axonemal microtubules 1

ClinVar Annotator: match by term: Brown syndrome

NCBI chrNW_004955409:16,885,564...16,967,865
Ensembl chrNW_004955409:16,886,423...16,967,641

G

tubulin beta 4A class IVa

ClinVar Annotator: match by term: Brown syndrome

NCBI chrNW_004955495:3,134,181...3,138,725
Ensembl chrNW_004955495:3,133,429...3,139,552

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

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

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

NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542

Carey-Fineman-Ziter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE

PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More...

NCBI chrNW_004955513:2,835,466...2,842,325
Ensembl chrNW_004955513:2,833,234...2,842,325

Carey-Fineman-Ziter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1

PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953

NCBI chrNW_004955513:2,835,466...2,842,325
Ensembl chrNW_004955513:2,833,234...2,842,325

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA polymerase I and III subunit C

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2

NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591

Carnitine Acetyltransferase Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carnitine O-acetyltransferase

ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY

PMID:25741868 PMID:28492532 PMID:31448845

NCBI chrNW_004955570:1,417,608...1,428,720
Ensembl chrNW_004955570:1,417,608...1,428,720

Cayler Cardiofacial Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EYA transcriptional coactivator and phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955444:8,336,071...8,655,041
Ensembl chrNW_004955444:8,495,530...8,655,100

CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group I

ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia

PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More...

NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480

G

mutS homolog 6

ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia

PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More...

NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia

PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More...

NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651

Charcot-Marie-Tooth Disease Type 4A, Axonal Form

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA oxidase 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

PMID:25326637 PMID:28492532

NCBI chrNW_004955506:6,286,824...6,309,764
Ensembl chrNW_004955506:6,286,648...6,312,716

G

BICD cargo adaptor 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954

NCBI chrNW_004955515:5,060,176...5,105,298
Ensembl chrNW_004955515:5,061,005...5,103,179

G

ganglioside induced differentiation associated protein 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chrNW_004955444:6,053,422...6,069,741
Ensembl chrNW_004955444:6,051,301...6,069,765

G

leucine rich repeat and sterile alpha motif containing 1

CTD Direct Evidence: marker/mechanism

PMID:22781092 PMID:27686364

NCBI chrNW_004955419:1,121,127...1,154,356
Ensembl chrNW_004955419:1,121,127...1,154,356

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

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

NCBI chrNW_004955490:8,303,775...8,330,713
Ensembl chrNW_004955490:8,303,775...8,330,713

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 chrNW_004955467:12,644,070...12,734,546
Ensembl chrNW_004955467:12,644,098...12,730,711

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition

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

NCBI chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663

G

sarcoglycan gamma

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

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

NCBI chrNW_004955497:3,592,041...3,702,780
Ensembl chrNW_004955497:3,615,003...3,701,300

G

transforming growth factor beta receptor 1

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

PMID:25326637 PMID:28492532

NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017

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

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

NCBI chrNW_004955452:8,185,550...8,218,711
Ensembl chrNW_004955452:8,185,550...8,218,950

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 chrNW_004955419:21,092,583...21,277,294
Ensembl chrNW_004955419:21,092,380...21,231,070

Christianson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor G4

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:8,690,268...8,801,358
Ensembl chrNW_004955489:8,701,814...8,801,358

G

Rac/Cdc42 guanine nucleotide exchange factor 6

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:8,360,027...8,459,309
Ensembl chrNW_004955489:8,360,072...8,459,377

G

bombesin receptor subtype 3

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:8,627,569...8,631,810
Ensembl chrNW_004955489:8,627,569...8,631,810

G

CD40 ligand

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746

G

cyclin dependent kinase like 5

ClinVar Annotator: match by term: Angelman syndrome-like

PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 More...

NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485

G

four and a half LIM domains 1

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970

G

G protein-coupled receptor 101

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:8,125,763...8,127,280
Ensembl chrNW_004955489:8,125,763...8,127,280

G

HIVEP zinc finger 2

ClinVar Annotator: match by term: Angelman syndrome-like

NCBI chrNW_004955436:17,368,948...17,549,957
Ensembl chrNW_004955436:17,518,603...17,550,790

G

HIV-1 Tat specific factor 1

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:8,607,649...8,622,044
Ensembl chrNW_004955489:8,607,629...8,622,044

G

MAP7 domain containing 3

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:8,851,359...8,884,867

G

RNA binding motif protein X-linked

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:8,280,842...8,286,252
Ensembl chrNW_004955489:8,280,794...8,286,252

G

solute carrier family 9 member A6

ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type

PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More...

NCBI chrNW_004955489:9,020,719...9,078,375
Ensembl chrNW_004955489:9,019,425...9,078,705

G

vestigial like family member 1

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:8,569,891...8,586,770

G

Zic family member 3

ClinVar Annotator: match by term: Christianson syndrome

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892

chronic progressive external ophthalmoplegia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

mast cell immunoglobulin like receptor 1

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions

PMID:21555342 PMID:25741868 PMID:28492532

NCBI chrNW_004955478:7,416,609...7,429,817

G

DNA polymerase gamma, catalytic subunit

DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)

PMID:11431686 PMID:12565911 PMID:12975295 PMID:16401742 PMID:17420318 More...

RGD:737726 RGD:8694163 RGD:8694170 RGD:8694183 RGD:8694204

NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651

G

DNA polymerase gamma 2, accessory subunit

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions

PMID:21555342 PMID:25741868 PMID:28492532

NCBI chrNW_004955478:7,376,240...7,396,647
Ensembl chrNW_004955478:7,376,712...7,396,647

G

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions

PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 More...

NCBI chrNW_004955417:26,949,686...26,976,976
Ensembl chrNW_004955417:26,949,686...26,976,726

G

solute carrier family 25 member 4

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions

NCBI chrNW_004955403:23,878,329...23,882,322
Ensembl chrNW_004955403:23,878,329...23,882,322

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:11907800 PMID:14680979

NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163

G

twinkle mtDNA helicase

susceptibility

DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions

PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More...

NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697

Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin beta 6 class V

ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction

PMID:25741868 PMID:29016863

NCBI chrNW_004955402:1,071,135...1,081,385
Ensembl chrNW_004955402:1,070,858...1,081,385

congenital fibrosis of the extraocular muscles

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin alpha 1

ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles

NCBI chrNW_004955418:1,592,555...1,754,423
Ensembl chrNW_004955418:1,592,229...1,754,689

G

fibroblast growth factor 21

ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles

NCBI chrNW_004955559:1,818,400...1,821,423
Ensembl chrNW_004955559:1,817,110...1,820,417

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles

NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333

G

kinesin family member 21A

ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL

PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 More...

NCBI chrNW_004955505:933,254...1,000,039
Ensembl chrNW_004955505:933,270...998,853

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles

NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700

G

minichromosome maintenance complex component 3 associated protein

ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles

NCBI chrNW_004955407:42,657,422...42,706,339
Ensembl chrNW_004955407:42,657,588...42,705,315

G

myosin heavy chain 10

ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles

NCBI chrNW_004955467:8,298,514...8,427,459
Ensembl chrNW_004955467:8,298,527...8,427,459

G

nestin

ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles

NCBI chrNW_004955545:2,748,132...2,756,595
Ensembl chrNW_004955545:2,748,078...2,756,301

G

tubulin beta class I

ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles

NCBI chrNW_004955583:704,811...715,742
Ensembl chrNW_004955583:704,750...718,649

congenital fibrosis of the extraocular muscles 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 21A

ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition

PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More...

NCBI chrNW_004955505:933,254...1,000,039
Ensembl chrNW_004955505:933,270...998,853

congenital fibrosis of the extraocular muscles 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired like homeobox 2A

ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2

PMID:11600883 PMID:25741868

NCBI chrNW_004955414:19,141,589...19,145,486
Ensembl chrNW_004955414:19,141,589...19,145,486

congenital fibrosis of the extraocular muscles 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XXV alpha 1 chain

ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5

PMID:25500261 PMID:25741868 PMID:31875546

NCBI chrNW_004955496:839,474...1,255,107
Ensembl chrNW_004955496:839,561...1,250,614

congenital myopathy 1B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FMR1 autosomal homolog 1

ClinVar Annotator: match by term: Multiminicore myopathy

PMID:25741868 PMID:30770808

NCBI chrNW_004955420:9,903,736...9,966,100
Ensembl chrNW_004955420:9,903,736...9,966,100

G

ryanodine receptor 1

ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy

PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More...

NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036

G

SRSF protein kinase 3

ClinVar Annotator: match by term: Multiminicore myopathy

NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709

G

titin

ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy

NCBI chrNW_004955403:18,057,344...18,328,389

congenital myopathy 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group G

ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant

PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More...

NCBI chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911

G

growth arrest specific 7

ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia

NCBI chrNW_004955467:6,979,718...7,223,948
Ensembl chrNW_004955467:7,112,123...7,217,591

G

glucagon like peptide 2 receptor

ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia

NCBI chrNW_004955467:7,239,547...7,308,809
Ensembl chrNW_004955467:7,242,180...7,296,713

G

myosin-3

ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia

NCBI chrNW_004955467:6,561,609...6,583,228
Ensembl chrNW_004955467:6,561,617...6,583,089

G

protein SCO1 homolog, mitochondrial

ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia

NCBI chrNW_004955467:6,519,873...6,535,321
Ensembl chrNW_004955467:6,519,873...6,537,753

G

myosin heavy chain 1

ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia

NCBI chrNW_004955467:6,684,104...6,707,597
Ensembl chrNW_004955467:6,685,753...6,707,491

G

myosin heavy chain 13

ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia

NCBI chrNW_004955467:6,816,393...6,872,754
Ensembl chrNW_004955467:6,816,393...6,872,754

G

myosin heavy chain 2

ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia

PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More...

NCBI chrNW_004955467:6,655,346...6,681,354

G

myosin heavy chain 4

ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia

NCBI chrNW_004955467:6,719,572...6,744,147

G

recoverin

ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia

NCBI chrNW_004955467:7,220,237...7,236,450
Ensembl chrNW_004955467:7,220,237...7,236,450

G

valosin containing protein

ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant

PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More...

NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076

congenital nystagmus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism
OMIM:164100 | OMIM:193003 | OMIM:300589 | OMIM:300814 | OMIM:608345 | OMIM:614826

NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836

G

activating transcription factor 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955462:14,352,956...14,553,299
Ensembl chrNW_004955462:14,357,945...14,548,543

G

myosin VIIA

associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human)

NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500

G

paired box 6

DNA:snp:intron:IVS4+5G>C (human)

NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162

G

roundabout guidance receptor 1

ClinVar Annotator: match by term: Congenital nystagmus

PMID:25741868 PMID:28492532 PMID:35348658

NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053

G

retinoid isomerohydrolase RPE65

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955423:23,184,326...23,208,206
Ensembl chrNW_004955423:23,183,937...23,208,282

congenital nystagmus 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FERM domain containing 7

ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked

PMID:16020310 PMID:17013395 PMID:17768376 PMID:17893669 PMID:17962394 More...

NCBI chrNW_004955473:2,798,736...2,817,770
Ensembl chrNW_004955473:2,774,910...2,817,770

congenital nystagmus 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein-coupled receptor 143

ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked

PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 More...

NCBI chrNW_004955499:7,900,276...7,953,847
Ensembl chrNW_004955499:7,909,019...7,928,431

Congenital Nystagmus 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

roundabout guidance receptor 1

NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053

CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurogenin 1

ClinVar Annotator: match by term: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay

PMID:25741868 PMID:26077850 PMID:33439489 PMID:36647078

NCBI chrNW_004955408:30,693,893...30,695,453
Ensembl chrNW_004955408:30,694,496...30,695,221

Cranial Nerve Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

mRNA:increased expression:superior cervical ganglion

NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303

G

C-X3-C motif chemokine ligand 1

NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711

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 chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120

G

translocase of inner mitochondrial membrane 8A

ClinVar Annotator: match by term: Deafness dystonia syndrome

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

NCBI chrNW_004955503:7,480,075...7,483,218
Ensembl chrNW_004955503:7,480,075...7,483,218

distal arthrogryposis type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

piezo type mechanosensitive ion channel component 2

ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More...

NCBI chrNW_004955402:1,534,619...1,873,143
Ensembl chrNW_004955402:1,650,726...1,871,876

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

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

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

NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081

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

ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy

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

NCBI chrNW_004955424:27,181,717...27,240,067
Ensembl chrNW_004955424:27,181,099...27,240,446

G

peripherin 2

ClinVar Annotator: match by term: MALATTIA LEVENTINESE

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

NCBI chrNW_004955437:8,784,211...8,794,789
Ensembl chrNW_004955437:8,782,183...8,795,017

Duane retraction syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 1B

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chrNW_004955470:4,328,895...4,336,441
Ensembl chrNW_004955470:4,326,096...4,336,441

G

chimerin 1

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chrNW_004955449:574,407...635,566

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Duane retraction syndrome

PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 More...

NCBI chrNW_004955532:650,913...681,186

G

cut like homeobox 1

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chrNW_004955456:15,292,562...15,636,835
Ensembl chrNW_004955456:15,276,959...15,638,004

G

FER tyrosine kinase

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chrNW_004955418:5,612,919...5,981,549
Ensembl chrNW_004955418:5,614,950...5,981,636

G

forkhead box L2

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chrNW_004955501:83,965...84,476

G

kinesin family member 5C

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chrNW_004955440:14,754,931...14,854,090
Ensembl chrNW_004955440:14,754,639...14,854,406

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism
OMIM:126800 | OMIM:604356

NCBI chrNW_004955445:16,219,675...16,222,913

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203

G

spalt like transcription factor 4

DNA:frameshift mutation:cds:p.M640IfsX25 (human)
DNA:snps, deletions, insertion:multiple (human)
DNA:duplication:cds:c.410dupG (human)
DNA:nonsense mutation:cds:p.R905X (human)
CTD Direct Evidence: marker/mechanism
DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)

PMID:12393809 PMID:12395297 PMID:16402211 PMID:16411190 PMID:17216607 More...

RGD:11532205 RGD:11556210 RGD:11556211 RGD:11556215 RGD:11556231 RGD:11556232

NCBI chrNW_004955445:6,824,797...6,841,141
Ensembl chrNW_004955445:6,824,770...6,842,187

G

tubulin alpha 8

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chrNW_004955454:6,129,821...6,148,645
Ensembl chrNW_004955454:6,129,612...6,148,645

Duane Retraction Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MAF bZIP transcription factor B

ClinVar Annotator: match by term: Duane syndrome type 1

NCBI chrNW_004955445:16,219,675...16,222,913

Duane Retraction Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chimerin 1

ClinVar Annotator: match by term: Duane retraction syndrome 2

PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 More...

NCBI chrNW_004955449:574,407...635,566

Duane Retraction Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MAF bZIP transcription factor B

ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness

NCBI chrNW_004955445:16,219,675...16,222,913

episodic ataxia type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 5, tartrate resistant

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,418,113...2,421,181
Ensembl chrNW_004955495:2,418,364...2,421,538

G

angiopoietin like 8

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,205,424...2,207,611
Ensembl chrNW_004955495:2,205,485...2,207,376

G

bestrophin 2

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,846,053...31,851,628
Ensembl chrNW_004955415:31,846,047...31,851,962

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy
ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia with nystagmus | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy

PMID:1849839 PMID:8734765 PMID:8898206 PMID:9005860 PMID:9329229 More...

NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595

G

calreticulin

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,985,147...31,989,372
Ensembl chrNW_004955415:31,985,147...31,989,372

G

coactivator associated arginine methyltransferase 1

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:1,983,599...2,002,174
Ensembl chrNW_004955495:1,983,599...2,002,174

G

coiled-coil domain containing 159

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,263,350...2,270,043

G

calponin 1

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,394,724...2,401,236
Ensembl chrNW_004955495:2,394,724...2,401,778

G

DAN domain BMP antagonist family member 5

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:32,012,637...32,015,965
Ensembl chrNW_004955415:32,012,637...32,015,965

G

deoxyhypusine synthase

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,778,632...31,782,782
Ensembl chrNW_004955415:31,778,632...31,782,782

G

deoxyribonuclease 2, lysosomal

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,936,588...31,939,540
Ensembl chrNW_004955415:31,936,757...31,939,339

G

dynamin 2

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:1,860,644...1,934,589
Ensembl chrNW_004955495:1,860,644...1,934,818

G

dedicator of cytokinesis 6

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,174,802...2,216,424
Ensembl chrNW_004955495:2,174,966...2,216,423

G

ECSIT signaling integrator

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,375,992...2,385,962
Ensembl chrNW_004955495:2,375,602...2,382,035

G

ELAV like RNA binding protein 3

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,338,939...2,360,843
Ensembl chrNW_004955495:2,338,939...2,360,403

G

elongation factor 1

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,403,566...2,406,182
Ensembl chrNW_004955495:2,403,566...2,405,411

G

erythropoietin receptor

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,293,587...2,299,302
Ensembl chrNW_004955495:2,293,540...2,298,715

G

phenylalanyl-tRNA synthetase subunit alpha

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,972,888...31,981,424
Ensembl chrNW_004955415:31,968,980...31,981,424

G

F-box and WD repeat domain containing 9

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,788,115...31,794,174
Ensembl chrNW_004955415:31,787,002...31,794,174

G

GADD45G interacting protein 1

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,997,679...32,000,009
Ensembl chrNW_004955415:31,994,319...32,000,250

G

glutaryl-CoA dehydrogenase

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615

G

guided entry of tail-anchored proteins factor 3, ATPase

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,836,294...31,843,046
Ensembl chrNW_004955415:31,836,294...31,843,104

G

hook microtubule tethering protein 2

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,855,183...31,865,413
Ensembl chrNW_004955415:31,853,091...31,865,450

G

immediate early response 2

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:32,159,762...32,161,530
Ensembl chrNW_004955415:32,159,935...32,160,624

G

JunB proto-oncogene, AP-1 transcription factor subunit

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,876,508...31,878,289
Ensembl chrNW_004955415:31,876,793...31,877,836

G

KN motif and ankyrin repeat domains 2

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,168,992...2,173,581

G

KLF transcription factor 1

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,939,994...31,943,539
Ensembl chrNW_004955415:31,939,873...31,943,545

G

low density lipoprotein receptor

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,114,702...2,135,584
Ensembl chrNW_004955495:2,114,434...2,138,056

G

chromosome unknown open reading frame, human C19orf38

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:1,945,560...1,956,990
Ensembl chrNW_004955495:1,945,560...1,956,990

G

LYL1 basic helix-loop-helix family member

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:32,121,808...32,124,730
Ensembl chrNW_004955415:32,121,808...32,124,730

G

mannosidase alpha class 2B member 1

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,743,813...31,770,560
Ensembl chrNW_004955415:31,743,812...31,770,284

G

microtubule associated serine/threonine kinase 1

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,907,660...31,935,769
Ensembl chrNW_004955415:31,907,630...31,939,762

G

nucleus accumbens associated 1

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:32,135,633...32,152,059
Ensembl chrNW_004955415:32,136,439...32,152,059

G

nuclear factor I X

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:32,055,926...32,121,611
Ensembl chrNW_004955415:32,055,375...32,117,833

G

outer dynein arm docking complex subunit 3

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,318,840...2,330,966
Ensembl chrNW_004955495:2,318,471...2,330,508

G

peroxiredoxin 2

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,880,801...31,884,453
Ensembl chrNW_004955415:31,880,588...31,884,778

G

PRKCSH beta subunit of glucosidase II

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,331,075...2,338,479
Ensembl chrNW_004955495:2,331,569...2,337,946

G

RAB3D, member RAS oncogene family

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,254,336...2,259,211
Ensembl chrNW_004955495:2,251,818...2,259,233

G

RAD23 homolog A, nucleotide excision repair protein

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,991,478...31,997,277
Ensembl chrNW_004955415:31,991,479...32,000,250

G

ral guanine nucleotide dissociation stimulator like 3

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,304,820...2,319,171
Ensembl chrNW_004955495:2,305,053...2,316,841

G

ribonuclease H2 subunit A

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,884,533...31,894,159
Ensembl chrNW_004955415:31,884,533...31,898,433

G

retbindin

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,895,446...31,899,927
Ensembl chrNW_004955415:31,895,507...31,899,303

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,021,671...2,105,155
Ensembl chrNW_004955495:2,021,566...2,105,397

G

SPC24 component of NDC80 kinetochore complex

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955774:5,456...9,810
Ensembl chrNW_004955774:5,658...9,769

G

SWIM-type zinc finger 7 associated protein 1

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,289,401...2,291,184
Ensembl chrNW_004955495:2,289,379...2,291,848

G

synaptonemal complex central element protein 2

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,957,244...31,969,922
Ensembl chrNW_004955415:31,957,489...31,969,859

G

translocase of inner mitochondrial membrane 29

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,005,929...2,007,238
Ensembl chrNW_004955495:2,006,011...2,006,876

G

transmembrane p24 trafficking protein 1

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:1,934,920...1,938,208
Ensembl chrNW_004955495:1,934,920...1,938,208

G

transmembrane protein 205

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,261,287...2,263,244
Ensembl chrNW_004955495:2,261,163...2,262,589

G

transportin 2

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,807,701...31,826,938
Ensembl chrNW_004955415:31,807,701...31,826,919

G

telomerase RNA component interacting RNase

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,831,093...31,834,796
Ensembl chrNW_004955415:31,831,093...31,834,796

G

tRNA methyltransferase 1

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:32,126,630...32,136,770
Ensembl chrNW_004955415:32,126,444...32,135,516

G

tetraspanin 16

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,234,098...2,249,884
Ensembl chrNW_004955495:2,234,516...2,248,513

G

WD repeat domain 83

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,774,017...31,778,737
Ensembl chrNW_004955415:31,774,017...31,778,737

G

WD repeat domain 83 opposite strand

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chrNW_004955415:31,772,401...31,773,916
Ensembl chrNW_004955415:31,772,401...31,773,916

G

Yip1 domain family member 2

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,001,458...2,005,880
Ensembl chrNW_004955495:1,997,720...2,006,264

G

zinc finger protein 653

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chrNW_004955495:2,363,123...2,375,895
Ensembl chrNW_004955495:2,363,334...2,375,654

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 chrNW_004955495:1,590,493...1,594,760
Ensembl chrNW_004955495:1,590,493...1,594,760

epithelial basement membrane dystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transforming growth factor beta induced

ClinVar Annotator: match by term: Epithelial basement membrane dystrophy

PMID:16652336 PMID:19337156 PMID:25525159 PMID:28492532

NCBI chrNW_004955408:31,093,450...31,124,715
Ensembl chrNW_004955408:31,093,050...31,125,398

esotropia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor AP-2 alpha

ClinVar Annotator: match by term: Esotropia

NCBI chrNW_004955465:3,877,896...3,900,259
Ensembl chrNW_004955465:3,882,549...3,898,929

Facial Nerve Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase activating polypeptide 1

mRNA:increased expression:facial VII nucleus

NCBI chrNW_004955402:9,091,927...9,099,803
Ensembl chrNW_004955402:9,091,725...9,099,803

G

activating transcription factor 2

NCBI chrNW_004955449:332,563...411,218
Ensembl chrNW_004955449:338,193...411,218

G

C-C motif chemokine receptor 3

NCBI chrNW_004955420:25,702,917...25,723,269
Ensembl chrNW_004955420:25,701,407...25,723,353

G

CD59 molecule (CD59 blood group)

mRNA, protein:increased expression:facial VII nucleus

NCBI chrNW_004955422:12,500,572...12,528,738

G

colony stimulating factor 1

protein:increased expression:facial VII nerve, microglial cell

NCBI chrNW_004955435:13,404,236...13,423,059
Ensembl chrNW_004955435:13,404,508...13,424,247

G

cathepsin S

NCBI chrNW_004955413:99,279...124,793
Ensembl chrNW_004955413:99,159...124,042

G

GDNF family receptor alpha 1

mRNA:increased expression:facial VII nucleus

NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853

G

hepatocyte growth factor

treatment

NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058

G

NADH:ubiquinone oxidoreductase subunit A5

mRNA:increased expression:skeletal muscle

NCBI chrNW_004955479:5,065,948...5,080,215
Ensembl chrNW_004955479:5,064,652...5,080,215

G

ret proto-oncogene

mRNA:increased expression:facial VII nucleus

NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946

facial paralysis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 9

associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus

NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386

Familial Horizontal Gaze Palsy with Progressive Scoliosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DCC netrin 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955402:37,123,112...38,218,876
Ensembl chrNW_004955402:37,123,795...38,218,472

G

roundabout guidance receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955412:25,937,624...25,953,458
Ensembl chrNW_004955412:25,937,624...25,953,189

Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

roundabout guidance receptor 3

ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1

PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More...

NCBI chrNW_004955412:25,937,624...25,953,458
Ensembl chrNW_004955412:25,937,624...25,953,189

Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DCC netrin 1 receptor

ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2

PMID:25741868 PMID:28250456 PMID:28492532

NCBI chrNW_004955402:37,123,112...38,218,876
Ensembl chrNW_004955402:37,123,795...38,218,472

Foveal Hypoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atonal bHLH transcription factor 7

ClinVar Annotator: match by term: Foveal hypoplasia

PMID:28492532 PMID:31696227

NCBI chrNW_004955425:20,559,466...20,560,275

G

neural retina leucine zipper

ClinVar Annotator: match by term: Foveal hypoplasia

PMID:25741868 PMID:28492532 PMID:29385733

NCBI chrNW_004955409:36,279,996...36,313,824
Ensembl chrNW_004955409:36,310,932...36,313,893

G

outer mitochondrial membrane lipid metabolism regulator OPA3

ClinVar Annotator: match by term: Foveal hypoplasia

NCBI chrNW_004955574:60,652...82,343
Ensembl chrNW_004955574:60,652...82,343

G

solute carrier family 38 member 8

ClinVar Annotator: match by term: Foveal hypoplasia

PMID:24045842 PMID:28492532 PMID:32032626 PMID:33594928 PMID:35029636

NCBI chrNW_004955564:233,796...252,565
Ensembl chrNW_004955564:230,610...253,523

G

tyrosinase

ClinVar Annotator: match by term: Foveal hypoplasia

PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 More...

NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001

foveal hypoplasia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elongator acetyltransferase complex subunit 4

ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome

PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532

NCBI chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583

G

paired box 6

ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome

PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More...

NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162

foveal hypoplasia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 38 member 8

ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis

PMID:16199547 PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 More...

NCBI chrNW_004955564:233,796...252,565
Ensembl chrNW_004955564:230,610...253,523

GAPO syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 1

ClinVar Annotator: match by term: GAPO syndrome

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

NCBI chrNW_004955424:15,820,734...16,034,278
Ensembl chrNW_004955424:15,824,435...16,033,946

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 chrNW_004955433:6,830,732...6,891,259
Ensembl chrNW_004955433:6,830,540...6,891,258

Hereditary Congenital Facial Paresis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox B1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955451:12,707,560...12,708,950
Ensembl chrNW_004955451:12,707,462...12,709,899

Hereditary Congenital Facial Paresis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox B1

ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3

PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 More...

NCBI chrNW_004955451:12,707,560...12,708,950
Ensembl chrNW_004955451:12,707,462...12,709,899

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

NCBI chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692

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 chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684

G

transmembrane protein 126A

ClinVar Annotator: match by term: Optic Atrophy, Recessive

NCBI chrNW_004955414:7,214,408...7,224,499
Ensembl chrNW_004955414:7,216,286...7,224,475

Hypoglossal Nerve Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1B

NCBI chrNW_004955547:2,311,573...2,366,106
Ensembl chrNW_004955547:2,323,771...2,367,263

G

ADAM metallopeptidase with thrombospondin type 1 motif 1

mRNA:increased expression:hypoglossal nerve

NCBI chrNW_004955407:26,524,487...26,533,038
Ensembl chrNW_004955407:26,524,130...26,533,038

G

allograft inflammatory factor 1

NCBI chrNW_004955437:157,509...158,919
Ensembl chrNW_004955437:157,509...158,919

G

casein kinase 2 beta

NCBI chrNW_004955437:210,541...215,725
Ensembl chrNW_004955437:210,838...219,694

G

fibroblast growth factor 2

NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773

G

fibroblast growth factor receptor 1

NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111

G

GDNF family receptor alpha 1

mRNA:increased expression:hypoglossal XII nerve

NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853

G

interleukin 1 receptor type 1

mRNA:increased expression:hypoglossal nerve

NCBI chrNW_004955470:7,685,498...7,703,374

G

melanoma cell adhesion molecule

NCBI chrNW_004955412:20,396,056...20,404,777
Ensembl chrNW_004955412:20,397,051...20,404,780

G

membrane metalloendopeptidase

NCBI chrNW_004955448:6,193,113...6,311,666
Ensembl chrNW_004955448:6,226,059...6,314,949

G

protein kinase cAMP-activated catalytic subunit alpha

NCBI chrNW_004955415:32,794,172...32,807,944
Ensembl chrNW_004955415:32,793,718...32,812,930

G

protein kinase cAMP-activated catalytic subunit beta

NCBI chrNW_004955423:9,630,308...9,747,820
Ensembl chrNW_004955423:9,629,378...9,747,820

G

ret proto-oncogene

mRNA:increased expression:hypoglossal XII nerve

NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946

G

SMAD family member 1

mRNA:increased expression:hypoglossal nucleus

NCBI chrNW_004955428:1,357,398...1,429,521
Ensembl chrNW_004955428:1,361,085...1,429,948

G

SMAD family member 2

mRNA:increased expression:hypoglossal nucleus

NCBI chrNW_004955402:33,131,760...33,217,144
Ensembl chrNW_004955402:33,136,778...33,216,844

G

SMAD family member 3

mRNA:increased expression:hypoglossal nucleus

NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136

G

SMAD family member 4

mRNA:increased expression:hypoglossal nucleus

NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538

G

SMAD family member 7

mRNA:increased expression:hypoglossal nucleus

NCBI chrNW_004955402:34,028,184...34,058,949
Ensembl chrNW_004955402:34,028,063...34,058,291

G

SMAD family member 9

mRNA:decreased expression:hypoglossal nucleus

NCBI chrNW_004955431:9,117,616...9,184,920

G

thioredoxin reductase 1

mRNA, protein:increased expression:neuron

NCBI chrNW_004955405:38,863,762...38,928,615
Ensembl chrNW_004955405:38,903,918...38,927,410

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

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

NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227

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 chrNW_004955413:27,065,785...27,072,432
Ensembl chrNW_004955413:27,065,785...27,072,432

Infantile Polymyoclonus

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: Infantile polymyoclonus

PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More...

NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494

INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sine oculis binding protein homolog

ClinVar Annotator: match by term: IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus

PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532

NCBI chrNW_004955411:32,745,029...32,898,570
Ensembl chrNW_004955411:32,745,235...32,881,138

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 chrNW_004955412:20,256,467...20,270,172
Ensembl chrNW_004955412:20,256,293...20,271,278

G

apolipoprotein A1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298

G

apolipoprotein A4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701

G

apolipoprotein C3

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015

G

archain 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,718,534...19,750,340
Ensembl chrNW_004955412:19,718,132...19,753,361

G

Rho guanine nucleotide exchange factor 12

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:21,344,671...21,497,951
Ensembl chrNW_004955412:21,355,575...21,497,951

G

ATP synthase membrane subunit g

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,555,736...19,563,094

G

beta-secretase 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,596,643...18,620,089
Ensembl chrNW_004955412:18,596,643...18,620,362

G

BCL9 like

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,029,988...20,059,057
Ensembl chrNW_004955412:20,029,988...20,059,057

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 chrNW_004955412:20,419,754...20,421,541
Ensembl chrNW_004955412:20,415,287...20,421,541

G

C2CD2 like

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,214,915...20,232,260
Ensembl chrNW_004955412:20,223,890...20,236,709

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539

G

CD3d molecule

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,481,059...19,484,890
Ensembl chrNW_004955412:19,480,977...19,484,721

G

CD3e molecule

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990

G

CD3g molecule

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922

G

centrosomal AT-AC splicing factor

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,113,844...20,126,783
Ensembl chrNW_004955412:20,113,375...20,126,656

G

centrosomal protein 164

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,627,023...18,695,685
Ensembl chrNW_004955412:18,634,074...18,694,346

G

C-X-C motif chemokine receptor 5

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,016,768...20,031,635
Ensembl chrNW_004955412:20,016,587...20,031,629

G

DEAD-box helicase 6

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,854,785...19,889,422
Ensembl chrNW_004955412:19,854,785...19,889,426

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,205,381...20,217,874
Ensembl chrNW_004955412:20,205,381...20,217,871

G

dynein regulatory complex subunit 12 homolog

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,292,619...20,297,902
Ensembl chrNW_004955412:20,292,769...20,297,053

G

DS cell adhesion molecule like 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,708,444...19,022,538
Ensembl chrNW_004955412:18,708,993...19,022,523

G

forkhead box R1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,096,633...20,108,344
Ensembl chrNW_004955412:20,087,575...20,109,060

G

FXYD domain containing ion transport regulator 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159

G

FXYD domain containing ion transport regulator 6

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,053,627...19,090,582
Ensembl chrNW_004955412:19,052,801...19,090,582

G

glutamate ionotropic receptor kainate type subunit 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:21,563,879...21,932,292
Ensembl chrNW_004955412:21,563,595...21,934,427

G

histone H4 transcription factor

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,236,607...20,247,288
Ensembl chrNW_004955412:20,242,317...20,249,456

G

hydroxymethylbilane synthase

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635

G

hypoxia up-regulated 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,149,104...20,161,378
Ensembl chrNW_004955412:20,148,953...20,161,172

G

intraflagellar transport 46

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,697,995...19,710,965
Ensembl chrNW_004955412:19,697,995...19,711,665

G

interleukin 10 receptor subunit alpha

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,182,536...19,197,083
Ensembl chrNW_004955412:19,182,029...19,193,971

G

junction adhesion molecule like

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,363,501...19,402,213

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527

G

histone H2AX

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,203,173...20,204,714
Ensembl chrNW_004955412:20,203,772...20,204,203

G

melanoma cell adhesion molecule

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,396,056...20,404,777
Ensembl chrNW_004955412:20,397,051...20,404,780

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

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

NCBI chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760

G

myelin protein zero like 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,422,532...19,434,596
Ensembl chrNW_004955412:19,422,537...19,434,596

G

myelin protein zero like 3

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,402,064...19,420,431
Ensembl chrNW_004955412:19,402,064...19,420,431

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069

G

NHERF family PDZ scaffold protein 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,287,543...20,292,580
Ensembl chrNW_004955412:20,288,506...20,292,134

G

NLR family member X1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,275,767...20,287,414
Ensembl chrNW_004955412:20,275,917...20,287,414

G

out at first homolog

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:21,235,927...21,251,100
Ensembl chrNW_004955412:21,235,927...21,251,182

G

platelet activating factor acetylhydrolase 1b catalytic subunit 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,471,621...18,494,082
Ensembl chrNW_004955412:18,474,199...18,494,082

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,530,378...18,553,725
Ensembl chrNW_004955412:18,530,504...18,554,220

G

pleckstrin homology like domain family B member 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,754,997...19,800,984
Ensembl chrNW_004955412:19,756,379...19,800,984

G

POU class 2 homeobox 3

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:21,261,389...21,339,602
Ensembl chrNW_004955412:21,260,993...21,342,584

G

ring finger protein 214

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,555,881...18,594,341
Ensembl chrNW_004955412:18,555,887...18,593,815

G

ring finger protein 26

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,415,468...20,418,263
Ensembl chrNW_004955412:20,416,067...20,417,368

G

ribosomal protein S25

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,126,769...20,129,071
Ensembl chrNW_004955412:20,126,775...20,128,748

G

sterol-C5-desaturase

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870

G

sodium voltage-gated channel beta subunit 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,341,008...19,353,563
Ensembl chrNW_004955412:19,340,947...19,354,062

G

sodium voltage-gated channel beta subunit 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,312,697...19,330,913
Ensembl chrNW_004955412:19,311,797...19,331,201

G

SID1 transmembrane family member 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,505,453...18,521,667
Ensembl chrNW_004955412:18,505,453...18,522,082

G

SIK family kinase 3

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,177,175...18,280,687
Ensembl chrNW_004955412:18,177,175...18,280,748

G

solute carrier family 37 member 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542

G

sortilin related receptor 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:22,421,984...22,576,179
Ensembl chrNW_004955412:22,421,984...22,576,179

G

transgelin

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:18,523,469...18,529,285
Ensembl chrNW_004955412:18,523,469...18,529,285

G

tubulin folding cofactor E like

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:21,969,521...22,044,348
Ensembl chrNW_004955412:21,968,964...22,045,813

G

tectorin alpha

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:22,062,618...22,132,037
Ensembl chrNW_004955412:22,062,618...22,131,442

G

Thy-1 cell surface antigen

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,480,284...20,484,958
Ensembl chrNW_004955412:20,480,284...20,484,958

G

TLC domain containing 5

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:21,344,464...21,350,675
Ensembl chrNW_004955412:21,344,261...21,352,074

G

transmembrane protein 25

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,690,048...19,695,258
Ensembl chrNW_004955412:19,690,048...19,695,258

G

transmembrane serine protease 13

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,111,391...19,139,391
Ensembl chrNW_004955412:19,111,759...19,139,390

G

transmembrane serine protease 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,258,955...19,292,766
Ensembl chrNW_004955412:19,258,949...19,292,829

G

trafficking protein particle complex subunit 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,129,154...20,133,043
Ensembl chrNW_004955412:20,129,154...20,133,043

G

trehalase

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,801,153...19,815,394
Ensembl chrNW_004955412:19,801,376...19,814,305

G

tripartite motif containing 29

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:21,134,076...21,158,982
Ensembl chrNW_004955412:21,134,019...21,159,172

G

tetratricopeptide repeat domain 36

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,670,590...19,672,495

G

ubiquitination factor E4A

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:19,517,182...19,551,503
Ensembl chrNW_004955412:19,516,691...19,553,773

G

uroplakin 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,086,991...20,089,062
Ensembl chrNW_004955412:20,084,801...20,089,289

G

ubiquitin specific peptidase 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,435,778...20,461,898
Ensembl chrNW_004955412:20,433,302...20,457,493

G

VPS11 core subunit of CORVET and HOPS complexes

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chrNW_004955412:20,161,520...20,190,141
Ensembl chrNW_004955412:20,177,623...20,190,141

Isolated Microphthalmia with Cataract 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome unknown C14orf39 homolog

ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus

PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532

NCBI chrNW_004955466:9,158,022...9,194,088
Ensembl chrNW_004955466:9,157,944...9,195,226

G

SIX homeobox 6

ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus

PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532

NCBI chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109

IVIC syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

spalt like transcription factor 4

ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chrNW_004955445:6,824,797...6,841,141
Ensembl chrNW_004955445:6,824,770...6,842,187

jaw-winking syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 5C

ClinVar Annotator: match by term: Jaw-winking syndrome

NCBI chrNW_004955440:14,754,931...14,854,090
Ensembl chrNW_004955440:14,754,639...14,854,406

G

myosin heavy chain 10

ClinVar Annotator: match by term: Jaw-winking syndrome

NCBI chrNW_004955467:8,298,514...8,427,459
Ensembl chrNW_004955467:8,298,527...8,427,459

Joubert syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Abelson helper integration site 1

ClinVar Annotator: match by term: Joubert syndrome 3

PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 PMID:16240161 More...

NCBI chrNW_004955439:1,277,185...1,460,296
Ensembl chrNW_004955439:1,276,760...1,474,202

G

25-hydroxycholesterol 7-alpha-hydroxylase

ClinVar Annotator: match by term: Joubert syndrome 3

PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More...

NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Joubert syndrome 3

PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More...

NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028

Joubert syndrome 5

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: Joubert syndrome 5

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

NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212

G

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

ClinVar Annotator: match by term: Joubert syndrome 5

PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More...

NCBI chrNW_004955405:25,514,644...25,533,520
Ensembl chrNW_004955405:25,514,650...25,533,520

Joubert syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane protein 67

ClinVar Annotator: match by term: Joubert syndrome 6

PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More...

NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644

Joubert syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

polycystin 2, transient receptor potential cation channel

ClinVar Annotator: match by term: Joubert syndrome 7

PMID:19936001 PMID:25741868 PMID:28492532

NCBI chrNW_004955474:1,831,221...1,868,170
Ensembl chrNW_004955474:1,833,701...1,868,817

G

RPGR interacting protein 1

ClinVar Annotator: match by term: Joubert syndrome 7

NCBI chrNW_004955550:2,015,319...2,073,627
Ensembl chrNW_004955550:2,021,838...2,073,498

G

RPGRIP1 like

ClinVar Annotator: match by term: Joubert syndrome 7

PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More...

NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569

Kearns-Sayre syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

PPARG coactivator 1 alpha

NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435

G

transcription factor A, mitochondrial

OMIM:530000

NCBI chrNW_004955425:12,106,506...12,121,625
Ensembl chrNW_004955425:12,106,877...12,120,782

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)

NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701

G

epoxide hydrolase 1

onset

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

NCBI chrNW_004955520:116,363...142,983
Ensembl chrNW_004955520:116,363...128,665

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

lecithin retinol acyltransferase

CTD Direct Evidence: marker/mechanism

PMID:16250670 PMID:17011878

NCBI chrNW_004955471:2,603,395...2,610,988
Ensembl chrNW_004955471:2,603,678...2,609,079

G

NADH:ubiquinone oxidoreductase core subunit S2

ClinVar Annotator: match by term: Leber optic atrophy

NCBI chrNW_004955468:12,961,873...12,971,278
Ensembl chrNW_004955468:12,961,915...12,971,095

G

presenilin associated rhomboid like

no_association

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

PMID:20407791 PMID:20711738

RGD:12902617 RGD:12902618

NCBI chrNW_004955420:23,549,125...23,581,782
Ensembl chrNW_004955420:23,548,672...23,582,137

G

prickle planar cell polarity protein 3

ClinVar Annotator: match by term: Leber optic atrophy

NCBI chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662

G

retinol dehydrogenase 12

NCBI chrNW_004955466:2,473,145...2,485,779
Ensembl chrNW_004955466:2,473,096...2,487,623

G

RP1 axonemal microtubule associated

ClinVar Annotator: match by term: Leber optic atrophy

NCBI chrNW_004955454:13,781,556...14,082,310

G

retinoid isomerohydrolase RPE65

CTD Direct Evidence: marker/mechanism

PMID:16828753 PMID:17011878

NCBI chrNW_004955423:23,184,326...23,208,206
Ensembl chrNW_004955423:23,183,937...23,208,282

G

RPGR interacting protein 1

NCBI chrNW_004955550:2,015,319...2,073,627
Ensembl chrNW_004955550:2,021,838...2,073,498

G

superoxide dismutase 2

treatment

PMID:12601034 PMID:15293270

RGD:8158101 RGD:8158104

NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163

G

tumor protein p53

onset

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

NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928

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 chrNW_004955468:12,961,873...12,971,278
Ensembl chrNW_004955468:12,961,915...12,971,095

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 chrNW_004955456:14,057,517...14,058,729
Ensembl chrNW_004955456:14,057,620...14,058,303

G

prickle planar cell polarity protein 3

NCBI chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662

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 chrNW_004955415:23,221,084...23,263,548
Ensembl chrNW_004955415:23,221,084...23,262,073

G

prickle planar cell polarity protein 3

NCBI chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662

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)

NCBI chrNW_004955431:19,025,663...19,027,026

G

apolipoprotein E

susceptibility

DNA:polymorphism:exon:

NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888

G

brain derived neurotrophic factor

protein:increased expression:tear:

NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588

G

caveolin 1

no_association

DNA:SNP:promoter:rs4236601 (human)

NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403

G

caveolin 2

susceptibility

DNA:SNP: :rs1052990 (human)

NCBI chrNW_004955432:22,240,041...22,242,200

G

endothelin 1

protein:increased expression:plasma (human)

NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753

G

heat shock protein family D (Hsp60) member 1

NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419

G

myocilin

susceptibility

DNA:Haplotype: :

NCBI chrNW_004955406:12,182,115...12,194,683
Ensembl chrNW_004955406:12,182,046...12,199,669

G

optineurin

susceptibility

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

PMID:15226658 PMID:15557444 PMID:16148883

RGD:7771548 RGD:7775041 RGD:7775043

NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269

G

solute carrier family 1 member 1

CTD Direct Evidence: marker/mechanism
OMIM:606657

NCBI chrNW_004955434:8,790,685...8,879,757
Ensembl chrNW_004955434:8,790,685...8,879,757

G

solute carrier family 1 member 3

OMIM:606657

NCBI chrNW_004955426:21,371,985...21,450,749
Ensembl chrNW_004955426:21,371,985...21,451,069

G

superoxide dismutase 1

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

NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727

G

toll like receptor 4

no_association
susceptibility

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

PMID:21921986 PMID:22831837

RGD:7794768 RGD:7794769

NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135

G

tumor necrosis factor

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

NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

G

tumor protein p53

susceptibility

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

NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928

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:

NCBI chrNW_004955478:5,612,258...5,626,061
Ensembl chrNW_004955478:5,610,164...5,626,020

G

clusterin

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

NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876

G

erythropoietin

severity

NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355

G

fibroblast growth factor 2

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

NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773

G

fms related receptor tyrosine kinase 1

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

NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472

G

hypoxia inducible factor 1 subunit alpha

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

NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497

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)

PMID:22066978 PMID:35799735

RGD:155582223 RGD:7829760

NCBI chrNW_004955410:25,079,835...25,084,390

G

kinase insert domain receptor

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

NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583

G

norrin cystine knot growth factor NDP

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955516:4,218,703...4,244,774
Ensembl chrNW_004955516:4,218,703...4,244,846

G

nitric oxide synthase 3

susceptibility

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

NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814

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

PMID:20714746 PMID:21139695

RGD:8554903 RGD:8655546

NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241

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

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

RGD:155582223 RGD:8549772 RGD:8655594

NCBI chrNW_004955437:9,527,445...9,541,908

Miles-Carpenter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger C4H2-type containing

ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability

PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More...

NCBI chrNW_004955475:4,569,263...4,604,571
Ensembl chrNW_004955475:4,568,005...4,604,577

mitochondrial DNA depletion syndrome 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial genome maintenance exonuclease 1

ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11

PMID:23313956 PMID:25741868 PMID:28097321 PMID:28492532 PMID:28711739

NCBI chrNW_004955415:26,805,883...26,814,485
Ensembl chrNW_004955415:26,805,396...26,828,702

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 chrNW_004955478:7,416,609...7,429,817

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 chrNW_004955478:7,376,240...7,396,647
Ensembl chrNW_004955478:7,376,712...7,396,647

Moebius syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 8

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955412:31,295,436...31,336,781
Ensembl chrNW_004955412:31,296,051...31,314,835

G

anti-Mullerian hormone

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

PMID:25741868 PMID:28492532

NCBI chrNW_004955495:5,893,375...5,896,152
Ensembl chrNW_004955495:5,893,446...5,895,912

G

BCDIN3 domain containing RNA methyltransferase

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955547:427,127...432,482
Ensembl chrNW_004955547:427,432...432,455

G

cadherin 11

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955433:21,613,909...21,770,968
Ensembl chrNW_004955433:21,612,297...21,687,281

G

chimerin 1

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955449:574,407...635,566

G

EBF transcription factor 3

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955477:7,435,324...7,557,212
Ensembl chrNW_004955477:7,434,482...7,556,504

G

golgi associated RAB2 interactor family member 4

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955406:4,870,655...4,872,941

G

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955403:3,902,881...4,096,189
Ensembl chrNW_004955403:3,752,461...4,090,041

G

heat shock protein family B (small) member 7

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955527:2,219,462...2,222,824
Ensembl chrNW_004955527:2,219,462...2,222,824

G

integrator complex subunit 6 like

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955489:9,192,428...9,224,445
Ensembl chrNW_004955489:9,191,440...9,224,738

G

kelch repeat and BTB domain containing 7

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955518:4,979,207...4,984,721

G

mitochondrial ribosomal protein L28

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955442:16,831,641...16,835,133
Ensembl chrNW_004955442:16,831,913...16,834,878

G

phospholipase C beta 2

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955416:7,221,326...7,240,743
Ensembl chrNW_004955416:7,218,417...7,240,739

G

plexin D1

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955429:17,746,814...17,775,072
Ensembl chrNW_004955429:17,746,814...17,776,246

G

patched 2

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

PMID:28492532 PMID:28915250

NCBI chrNW_004955464:13,387,844...13,403,991
Ensembl chrNW_004955464:13,387,844...13,403,991

G

SIM bHLH transcription factor 1

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

PMID:2152513 PMID:23778139 PMID:25234154 PMID:25741868 PMID:28492532

NCBI chrNW_004955411:26,173,009...26,256,545
Ensembl chrNW_004955411:26,173,009...26,259,752

G

zinc finger protein 787

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chrNW_004955567:511,779...537,882

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 chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494

NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SNF8 subunit of ESCRT-II

ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY

NCBI chrNW_004955451:12,396,625...12,406,014
Ensembl chrNW_004955451:12,396,625...12,406,014

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 17

ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures

NCBI chrNW_004955487:5,180,241...5,218,298
Ensembl chrNW_004955487:5,180,252...5,218,216

G

cleavage and polyadenylation specific factor 3

ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures

NCBI chrNW_004955487:5,146,541...5,170,077
Ensembl chrNW_004955487:5,146,541...5,170,077

G

isoamyl acetate hydrolyzing esterase 1 (putative)

ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures

NCBI chrNW_004955487:5,172,505...5,180,132
Ensembl chrNW_004955487:5,172,505...5,180,132

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta

ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures

NCBI chrNW_004955487:5,229,485...5,263,749
Ensembl chrNW_004955487:5,230,506...5,263,752

neuromyelitis optica

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 4

disease_progression

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

PMID:16087714 PMID:18420727 PMID:18509235 PMID:20047900 PMID:22271321 More...

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

NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709

G

CD59 molecule (CD59 blood group)

severity

NCBI chrNW_004955422:12,500,572...12,528,738

G

glial fibrillary acidic protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955451:17,695,835...17,703,894
Ensembl chrNW_004955451:17,695,835...17,703,268

G

interleukin 21

protein:increased expression:cerebrospinal fluid (human)

NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492

G

interleukin 6

severity

protein:increased expression:serum, cerebral spinal fluid:

NCBI chrNW_004955410:25,079,835...25,084,390

G

myelin basic protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406

G

matrix metallopeptidase 9

protein:increased expression:serum

NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288

G

neurofilament heavy chain

protein:increased expression:serum:

NCBI chrNW_004955455:3,735,330...3,744,714
Ensembl chrNW_004955455:3,735,410...3,744,107

G

neurofilament light chain

protein:increased expression:serum (human)

NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026

G

S100 calcium binding protein B

NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510

non-arteritic anterior ischemic optic neuropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor V

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

NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463

G

glycoprotein Ib platelet subunit alpha

susceptibility

ClinVar Annotator: match by term: OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO

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

NCBI chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989

G

integrin subunit beta 3

susceptibility

DNA:polymorphism: :

NCBI chrNW_004955478:9,788,192...9,830,254
Ensembl chrNW_004955478:9,788,149...9,823,746

G

methylenetetrahydrofolate reductase

susceptibility

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

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

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 chrNW_004955456:14,057,517...14,058,729
Ensembl chrNW_004955456:14,057,620...14,058,303

ocular motility disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

klotho beta

ClinVar Annotator: match by term: Ocular motility disease

NCBI chrNW_004955443:7,917,047...7,954,390
Ensembl chrNW_004955443:7,917,585...7,954,322

Oculomotor Nerve Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurotrophic receptor tyrosine kinase 2

mRNA:increased expression:motor neuron

NCBI chrNW_004955432:2,284,283...2,629,631
Ensembl chrNW_004955432:2,288,898...2,630,878

OCULOMOTOR-ABDUCENS SYNKINESIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atypical chemokine receptor 3

ClinVar Annotator: match by term: Oculomotor-abducens synkinesis

NCBI chrNW_004955453:195,346...218,034
Ensembl chrNW_004955453:195,346...218,034

olfactory neuroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hypoxia inducible factor 1 subunit alpha

severity

protein:increased expression:neuroblastoma (human)

NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497

ophthalmoplegia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial genome maintenance exonuclease 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955415:26,805,883...26,814,485
Ensembl chrNW_004955415:26,805,396...26,828,702

G

NPC intracellular cholesterol transporter 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899

OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myogenic factor 5

ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies

PMID:10844060 PMID:25741868 PMID:29887215

NCBI chrNW_004955405:19,345,943...19,348,453
Ensembl chrNW_004955405:19,345,943...19,348,453

Opsoclonus-Myoclonus Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386

G

sodium channel epithelial 1 subunit beta

ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome

NCBI chrNW_004955493:1,937,507...1,956,248
Ensembl chrNW_004955493:1,904,220...1,956,303

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome

PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More...

NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494

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:25741868 PMID:26539208 PMID:29181157 PMID:32219868

NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165

G

CYFIP related Rac1 interactor A

ClinVar Annotator: match by term: Optic atrophy

NCBI chrNW_004955487:9,545,639...9,636,183
Ensembl chrNW_004955487:9,545,639...9,636,243

G

DEAD-box helicase 1

ClinVar Annotator: match by term: Optic atrophy

NCBI chrNW_004955487:9,085,950...9,117,599
Ensembl chrNW_004955487:9,085,918...9,119,979

G

dynamin 1 like

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680

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 chrNW_004955452:8,185,550...8,218,711
Ensembl chrNW_004955452:8,185,550...8,218,950

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Optic atrophy

NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818

G

NADH:ubiquinone oxidoreductase core subunit S3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:713,370...717,926
Ensembl chrNW_004955422:709,784...717,926

G

nicotinamide nucleotide adenylyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955486:3,637,794...3,655,744
Ensembl chrNW_004955486:3,637,794...3,655,598

G

ornithine aminotransferase

ClinVar Annotator: match by term: Optic atrophy

NCBI chrNW_004955477:2,430,146...2,450,135
Ensembl chrNW_004955477:2,429,776...2,450,624

G

OPA1 mitochondrial dynamin like GTPase

ClinVar Annotator: match by term: Optic atrophy

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

NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081

G

ribosomal protein L24

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

NCBI chrNW_004955427:3,201,173...3,204,516
Ensembl chrNW_004955427:3,201,173...3,204,516

G

reticulon 4 interacting protein 1

ClinVar Annotator: match by term: Optic atrophy

NCBI chrNW_004955411:31,902,848...31,950,645
Ensembl chrNW_004955411:31,902,848...31,950,645

G

stem-loop histone mRNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955514:954,489...968,670
Ensembl chrNW_004955514:955,296...967,327

G

solute carrier family 25 member 46

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955418:4,316,790...4,342,748
Ensembl chrNW_004955418:4,316,790...4,341,973

G

synaptosome associated protein 25

ClinVar Annotator: match by term: Optic atrophy

PMID:25741868 PMID:33299146

NCBI chrNW_004955415:20,133,361...20,218,840
Ensembl chrNW_004955415:20,133,201...20,219,023

G

tubulin folding cofactor D

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955506:273,769...434,205
Ensembl chrNW_004955506:273,954...434,973

G

wolframin ER transmembrane glycoprotein

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

NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610

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

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

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

NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081

G

outer mitochondrial membrane lipid metabolism regulator OPA3

ClinVar Annotator: match by term: Optic Atrophy, Dominant

NCBI chrNW_004955574:60,652...82,343
Ensembl chrNW_004955574:60,652...82,343

G

wolframin ER transmembrane glycoprotein

DNA:missense mutations, deletion:multiple

NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610

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

PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More...

NCBI chrNW_004955411:31,902,848...31,950,645
Ensembl chrNW_004955411:31,902,848...31,950,645

optic atrophy 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

YME1 like 1 ATPase

ClinVar Annotator: match by term: Optic atrophy 11

PMID:25741868 PMID:27495975 PMID:28492532

NCBI chrNW_004955429:2,550,611...2,572,472
Ensembl chrNW_004955429:2,549,954...2,572,889

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:26467025 PMID:26539208 PMID:26633542 PMID:28492532 More...

NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165

G

tubulin beta 6 class V

ClinVar Annotator: match by term: Optic atrophy 12

NCBI chrNW_004955402:1,071,135...1,081,385
Ensembl chrNW_004955402:1,070,858...1,081,385

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 chrNW_004955494:1,807,885...1,826,375
Ensembl chrNW_004955494:1,814,106...1,826,375

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 chrNW_004955413:25,387,399...25,401,484
Ensembl chrNW_004955413:25,387,399...25,401,484

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 chrNW_004955413:28,296,507...28,301,669
Ensembl chrNW_004955413:28,296,964...28,301,722

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 chrNW_004955452:8,185,550...8,218,711
Ensembl chrNW_004955452:8,185,550...8,218,950

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 chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963

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

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

NCBI chrNW_004955574:60,652...82,343
Ensembl chrNW_004955574:60,652...82,343

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

PMID:15635063 PMID:16199547 PMID:20696759 PMID:25741868 PMID:26604000 More...

NCBI chrNW_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680

G

tyrosyl-tRNA synthetase 2

ClinVar Annotator: match by term: Optic atrophy 5

NCBI chrNW_004955505:3,004,084...3,011,003
Ensembl chrNW_004955505:3,004,146...3,010,735

optic atrophy 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane protein 126A

ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7

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

NCBI chrNW_004955414:7,214,408...7,224,499
Ensembl chrNW_004955414:7,216,286...7,224,475

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

PMID:25351951 PMID:25741868 PMID:27528516 PMID:28492532 PMID:30689204 More...

NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227

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 chrNW_004955413:27,065,785...27,072,432
Ensembl chrNW_004955413:27,065,785...27,072,432

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 chrNW_004955553:1,746,759...1,755,316
Ensembl chrNW_004955553:1,746,670...1,755,315

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 chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162

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)

NCBI chrNW_004955563:861,355...878,633
Ensembl chrNW_004955563:861,349...878,633

G

advanced glycosylation end-product specific receptor

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

NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479

G

endothelin 1

human protein in a rat model

NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753

G

lysyl-tRNA synthetase 1

ClinVar Annotator: match by term: Optic neuropathy

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

NCBI chrNW_004955484:1,924,523...1,939,777
Ensembl chrNW_004955484:1,924,523...1,940,552

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Optic neuropathy

PMID:25741868 PMID:28492532

NCBI chrNW_004955492:4,161,976...4,371,637
Ensembl chrNW_004955492:4,209,749...4,369,762

G

paired box 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162

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 chrNW_004955422:3,278,615...3,290,799
Ensembl chrNW_004955422:3,278,615...3,291,714

G

C-X3-C motif chemokine receptor 1

onset

associated with Neurofibromatosis 1

NCBI chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230

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:21278392 PMID:23913538 PMID:25741868 More...

NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179

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 chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934

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

NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621

G

activity dependent neuroprotector homeobox

NCBI chrNW_004955445:7,498,223...7,530,828
Ensembl chrNW_004955445:7,492,257...7,531,862

G

adhesion molecule with Ig like domain 3

treatment

NCBI chrNW_004955532:1,618,659...1,621,706
Ensembl chrNW_004955532:1,619,532...1,621,064

G

aquaporin 4

NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709

G

aquaporin 9

NCBI chrNW_004955450:16,253,706...16,346,602
Ensembl chrNW_004955450:16,253,571...16,302,657

G

arginase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955466:2,549,557...2,577,060
Ensembl chrNW_004955466:2,549,557...2,577,060

G

activating transcription factor 2

NCBI chrNW_004955449:332,563...411,218
Ensembl chrNW_004955449:338,193...411,218

G

BCL2 associated X, apoptosis regulator

mRNA:increased expression:optic nerve, retina

NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244

G

BCL2 apoptosis regulator

mRNA:decreased expression:optic nerve, retina

NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485

G

brain derived neurotrophic factor

treatment

PMID:9520478 PMID:11050383 PMID:15140649

RGD:8655584 RGD:8655586 RGD:8655637

NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588

G

complement C3

mRNA:increased expression:optic nerve

NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697

G

cyclin dependent kinase 2

mRNA:increased expression:retina

NCBI chrNW_004955458:3,555,603...3,561,063
Ensembl chrNW_004955458:3,555,603...3,562,120

G

cofilin 1

treatment

NCBI chrNW_004955422:19,479,181...19,482,571
Ensembl chrNW_004955422:19,479,181...19,482,571

G

clusterin

NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876

G

colony stimulating factor 1 receptor

mRNA:increased expression:retina (rat)

NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751

G

colony stimulating factor 3

treatment

NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126

G

cathepsin B

protein:increased expression:retina (rat)

NCBI chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809

G

endothelin 1

protein:increased expression:retina

NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753

G

endothelin receptor type A

mRNA:increased expression:retina

NCBI chrNW_004955428:3,062,303...3,114,761
Ensembl chrNW_004955428:3,062,303...3,114,761

G

endothelin receptor type B

mRNA:increased expression:retina

NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358

G

E1A binding protein p300

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

NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933

G

fibroblast growth factor 2

treatment

NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:retina

NCBI chrNW_004955433:11,424,069...11,834,955
Ensembl chrNW_004955433:11,424,176...11,813,771

G

glial cell derived neurotrophic factor

NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324

G

GDNF family receptor alpha 1

NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853

G

GDNF family receptor alpha 2

NCBI chrNW_004955403:45,235,161...45,324,825
Ensembl chrNW_004955403:45,235,119...45,324,946

G

hepatocyte growth factor

treatment

NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058

G

insulin like growth factor 1 receptor

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

PMID:19484445 PMID:23648097

RGD:10046025 RGD:5686431

NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666

G

Jun proto-oncogene, AP-1 transcription factor subunit

NCBI chrNW_004955464:1,107,598...1,110,326

G

potassium inwardly rectifying channel subfamily J member 10

NCBI chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365

G

myelin regulatory factor

mRNA:decreased expression: oligodendrocyte

NCBI chrNW_004955511:5,927,103...5,949,289
Ensembl chrNW_004955511:5,927,698...5,942,242

G

nicotinamide phosphoribosyltransferase

treatment

NCBI chrNW_004955410:10,717,664...10,742,109
Ensembl chrNW_004955410:10,717,664...10,751,177

G

neural cell adhesion molecule 1

NCBI chrNW_004955412:14,630,109...14,923,847
Ensembl chrNW_004955412:14,630,443...14,923,926

G

neurofilament medium chain

NCBI chrNW_004955403:47,920,408...47,926,922

G

neogenin 1

protein:increased expression:retina

NCBI chrNW_004955450:4,191,168...4,324,997
Ensembl chrNW_004955450:4,191,168...4,375,896

G

nerve growth factor

protein:increased expression:retina

NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059

G

nerve growth factor receptor

NCBI chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305

G

neurotrophic receptor tyrosine kinase 1

NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579

G

neurotrophic receptor tyrosine kinase 2

NCBI chrNW_004955432:2,284,283...2,629,631
Ensembl chrNW_004955432:2,288,898...2,630,878

G

pro-apoptotic WT1 regulator

mRNA:increased expression:retina:

NCBI chrNW_004955405:18,434,711...18,540,710
Ensembl chrNW_004955405:18,434,711...18,540,710

G

paired box 6

protein:increased expression:retina (rat)

NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162

G

platelet derived growth factor subunit B

protein:decreased expression:nerve fiber:

NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:optic nerve (rat)

NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188

G

plasminogen activator, urokinase

mRNA:increased expression:optic nerve (rat)

NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209

G

protein tyrosine phosphatase non-receptor type 5

protein:increased expression:retina (rat)

NCBI chrNW_004955414:33,381,783...33,436,974
Ensembl chrNW_004955414:33,377,322...33,437,118

G

ras homolog family member A

protein:increased expression, altered localization:retina

NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451

G

SNW domain containing 1

protein:increased expression:retina (rat)

NCBI chrNW_004955438:1,561,562...1,601,492
Ensembl chrNW_004955438:1,561,568...1,601,492

G

toll like receptor 4

protein:increased expression:optic nerve

NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135

G

TNF receptor superfamily member 1A

PMID:14697498 PMID:18552980

RGD:7794683 RGD:8661743

NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021

G

TNFRSF1A associated via death domain

protein:increased expression: retina

NCBI chrNW_004955484:9,456,268...9,462,425
Ensembl chrNW_004955484:9,456,301...9,462,425

G

Y-box binding protein 3

mRNA:increased expression:retinal ganglion cell

NCBI chrNW_004955413:7,090,085...7,111,542
Ensembl chrNW_004955413:7,089,719...7,108,473

optic neuritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 4

disease_progression

PMID:22157536 PMID:23024849

RGD:8696036 RGD:9685553

NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709

G

calpain 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:20,006,448...20,026,984
Ensembl chrNW_004955422:20,004,426...20,025,708

G

catalase

treatment

associated with Encephalomyelitis, Autoimmune, Experimental;

NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464

G

chondroitin sulfate proteoglycan 4

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

NCBI chrNW_004955450:2,631,310...2,663,118
Ensembl chrNW_004955450:2,631,327...2,662,269

G

myelin oligodendrocyte glycoprotein

PMID:22157536 PMID:23860028

RGD:9685553 RGD:9685554

NCBI chrNW_004955583:136,077...150,597
Ensembl chrNW_004955583:136,077...150,649

G

neurofilament heavy chain

severity

protein:increased expression:serum:

PMID:15258226 PMID:29085182

RGD:27226813 RGD:27226814

NCBI chrNW_004955455:3,735,330...3,744,714
Ensembl chrNW_004955455:3,735,410...3,744,107

G

superoxide dismutase 2

associated with Encephalomyelitis, Autoimmune, Experimental;

NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163

pathologic nystagmus

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: Nystagmus

PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 More...

NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212

G

carnosine dipeptidase 1

ClinVar Annotator: match by term: Nystagmus

NCBI chrNW_004955402:57,970,205...58,019,980
Ensembl chrNW_004955402:57,970,161...58,019,479

G

cyclic nucleotide gated channel subunit beta 3

ClinVar Annotator: match by term: Nystagmus

PMID:10888875 PMID:10958649 PMID:15657609 PMID:15712225 PMID:17652762 More...

NCBI chrNW_004955417:4,164,328...4,288,516
Ensembl chrNW_004955417:4,168,766...4,300,437

G

coenzyme Q8A

ClinVar Annotator: match by term: Nystagmus

PMID:25558065 PMID:25741868

NCBI chrNW_004955406:10,180,415...10,217,450
Ensembl chrNW_004955406:10,180,415...10,217,505

G

chromosome unknown C14orf39 homolog

ClinVar Annotator: match by term: Nystagmus

NCBI chrNW_004955466:9,158,022...9,194,088
Ensembl chrNW_004955466:9,157,944...9,195,226

G

G protein subunit beta 1

ClinVar Annotator: match by term: Nystagmus

PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More...

NCBI chrNW_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066

G

G protein-coupled receptor 143

ClinVar Annotator: match by term: Nystagmus

PMID:15965158 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 More...

NCBI chrNW_004955499:7,900,276...7,953,847
Ensembl chrNW_004955499:7,909,019...7,928,431

G

guanylate cyclase 2D, retinal

ClinVar Annotator: match by term: Nystagmus

PMID:17964524 PMID:25741868 PMID:28492532 PMID:33546218

NCBI chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684

G

potassium voltage-gated channel modifier subfamily V member 2

ClinVar Annotator: match by term: Nystagmus

PMID:17896311 PMID:18235024 PMID:18400204 PMID:21882291 PMID:21911584 More...

NCBI chrNW_004955434:7,122,287...7,133,737
Ensembl chrNW_004955434:7,122,287...7,133,737

G

major intrinsic protein of lens fiber

ClinVar Annotator: match by term: Nystagmus

NCBI chrNW_004955458:4,030,619...4,035,656
Ensembl chrNW_004955458:4,030,619...4,035,656

G

MKS transition zone complex subunit 1

ClinVar Annotator: match by term: Nystagmus

PMID:18327255 PMID:25741868 PMID:28492532 PMID:28497568 PMID:34008892

NCBI chrNW_004955451:4,805,542...4,818,233
Ensembl chrNW_004955451:4,804,838...4,821,556

G

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: Nystagmus

NCBI chrNW_004955402:62,558,392...62,674,347
Ensembl chrNW_004955402:62,558,286...62,674,457

G

RPGR interacting protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955550:2,015,319...2,073,627
Ensembl chrNW_004955550:2,021,838...2,073,498

G

N-sulfoglucosamine sulfohydrolase

ClinVar Annotator: match by term: Nystagmus

PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 More...

NCBI chrNW_004955506:2,701,901...2,713,431
Ensembl chrNW_004955506:2,701,905...2,711,073

G

SIX homeobox 6

ClinVar Annotator: match by term: Nystagmus

NCBI chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109

G

syntaxin binding protein 1

ClinVar Annotator: match by term: Horizontal nystagmus

PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More...

NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759

G

TBC1 domain family member 24

ClinVar Annotator: match by term: Nystagmus

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224

G

transcription factor AP-2 alpha

ClinVar Annotator: match by term: Nystagmus

NCBI chrNW_004955465:3,877,896...3,900,259
Ensembl chrNW_004955465:3,882,549...3,898,929

G

transmembrane protein 67

ClinVar Annotator: match by term: Nystagmus

PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More...

NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644

G

tyrosinase

ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus

PMID:7704033 PMID:7955413 PMID:9163730 PMID:13680365 PMID:15381243 More...

NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001

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 chrNW_004955424:27,617,833...27,771,385
Ensembl chrNW_004955424:27,617,833...27,771,385

G

insulin like growth factor 1

protein:decreased expression:cerebrospinal fluid:

NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152

G

kinesin family member 1A

ClinVar Annotator: match by term: PEHO syndrome

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

NCBI chrNW_004955542:756,834...832,805
Ensembl chrNW_004955542:756,835...832,889

G

zinc finger HIT-type containing 3

ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome

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

NCBI chrNW_004955451:1,436,440...1,444,484
Ensembl chrNW_004955451:1,436,440...1,444,484

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 chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531

G

tubulin folding cofactor E

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

PMID:12389028 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 More...

NCBI chrNW_004955492:4,502,705...4,573,126
Ensembl chrNW_004955492:4,502,897...4,558,697

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic

PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 More...

NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651

G

twinkle mtDNA helicase

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic

PMID:12707443 PMID:12872260 PMID:18575922 PMID:18973250 PMID:19084593 More...

NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697

progressive supranuclear palsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eukaryotic translation initiation factor 2 alpha kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955424:210,867...279,267
Ensembl chrNW_004955424:226,038...280,593

G

mitogen-activated protein kinase kinase 6

NCBI chrNW_004955478:3,331,607...3,448,840
Ensembl chrNW_004955478:3,331,607...3,448,842

G

microtubule associated protein tau

onset
susceptibility

ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1

RGD
OMIM
ClinVar

PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More...

NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442

G

myelin associated oligodendrocyte basic protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955420:29,902,036...29,957,364

G

8-oxoguanine DNA glycosylase

protein:increased expression:pontine nucleus, neuron

NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793

G

superoxide dismutase 1

protein:increased activity:brain (human)

NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727

G

serine and arginine rich splicing factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955506:5,569,280...5,572,164
Ensembl chrNW_004955506:5,569,302...5,570,120

G

syntaxin 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955406:20,042,552...20,089,853
Ensembl chrNW_004955406:20,048,155...20,089,906

G

TAR DNA binding protein

NCBI chrNW_004955486:2,656,121...2,674,808
Ensembl chrNW_004955486:2,656,121...2,674,807

G

transformer 2 beta homolog

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955420:21,707,618...21,728,186
Ensembl chrNW_004955420:21,707,618...21,728,186

Progressive Supranuclear Palsy Atypical

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microtubule associated protein tau

susceptibility

ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical

PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More...

NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442

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 chrNW_004955457:14,325,278...14,444,368
Ensembl chrNW_004955457:14,325,281...14,379,937

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

ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic

PMID:19863561 PMID:29180244

NCBI chrNW_004955416:7,311,483...7,322,272
Ensembl chrNW_004955416:7,311,627...7,321,553

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

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

NCBI chrNW_004955486:3,813,923...3,837,563
Ensembl chrNW_004955486:3,813,923...3,838,119

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 chrNW_004955406:6,907,876...7,163,672

G

centrosomal protein 290

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

PMID:25741868 PMID:28492532

NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212

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 chrNW_004955427:21,120,012...21,171,838
Ensembl chrNW_004955427:21,118,703...21,171,683

G

nephrocystin 1

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 chrNW_004955470:3,261,455...3,305,989
Ensembl chrNW_004955470:3,260,557...3,307,797

G

nephrocystin 4

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

PMID:25741868 PMID:28492532

NCBI chrNW_004955486:6,442,058...6,547,451
Ensembl chrNW_004955486:6,448,442...6,547,488

G

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

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

NCBI chrNW_004955405:25,514,644...25,533,520
Ensembl chrNW_004955405:25,514,650...25,533,520

G

SHH signaling and ciliogenesis regulator SDCCAG8

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

NCBI chrNW_004955406:6,694,687...6,909,555
Ensembl chrNW_004955406:6,695,051...6,909,555

G

transmembrane protein 218

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

NCBI chrNW_004955412:26,149,816...26,166,470
Ensembl chrNW_004955412:26,151,452...26,166,470

G

tetratricopeptide repeat domain 21B

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

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

NCBI chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562

G

WD repeat domain 19

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 chrNW_004955443:8,053,847...8,122,918
Ensembl chrNW_004955443:8,053,847...8,123,110

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 chrNW_004955470:3,261,455...3,305,989
Ensembl chrNW_004955470:3,260,557...3,307,797

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

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

NCBI chrNW_004955486:6,442,058...6,547,451
Ensembl chrNW_004955486:6,448,442...6,547,488

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

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

NCBI chrNW_004955427:21,120,012...21,171,838
Ensembl chrNW_004955427:21,118,703...21,171,683

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

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

NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212

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 chrNW_004955405:25,514,644...25,533,520
Ensembl chrNW_004955405:25,514,650...25,533,520

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 chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616

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 chrNW_004955406:6,907,876...7,163,672

G

catsper channel auxiliary subunit epsilon

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

NCBI chrNW_004955406:7,716,831...7,861,390
Ensembl chrNW_004955406:7,716,825...7,844,687

G

centrosomal protein 170

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

PMID:20835237 PMID:22190896 PMID:28492532

NCBI chrNW_004955406:6,588,504...6,695,246
Ensembl chrNW_004955406:6,590,490...6,670,077

G

desumoylating isopeptidase 2

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

NCBI chrNW_004955406:7,881,815...7,894,690
Ensembl chrNW_004955406:7,880,648...7,894,629

G

heterogeneous nuclear ribonucleoprotein U

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

NCBI chrNW_004955406:8,000,269...8,021,554
Ensembl chrNW_004955406:8,000,269...8,021,554

G

cytochrome c oxidase protein 20 homolog

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

NCBI chrNW_004955406:7,994,226...8,002,639

G

phospholipase D family member 5

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

PMID:20835237 PMID:28492532

NCBI chrNW_004955406:5,810,286...5,994,601
Ensembl chrNW_004955406:5,816,926...6,138,579

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 chrNW_004955406:6,694,687...6,909,555
Ensembl chrNW_004955406:6,695,051...6,909,555

G

sperm microtubule inner protein 3

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

NCBI chrNW_004955406:7,651,785...7,682,027
Ensembl chrNW_004955406:7,651,769...7,682,036

G

zinc finger and BTB domain containing 18

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

NCBI chrNW_004955406:7,364,080...7,372,038
Ensembl chrNW_004955406:7,364,080...7,373,483

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 chrNW_004955443:8,053,847...8,122,918
Ensembl chrNW_004955443:8,053,847...8,123,110

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 chrNW_004955542:2,264,472...2,301,083
Ensembl chrNW_004955542:2,265,901...2,301,215

sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 2

ClinVar Annotator: match by term: Ataxia with Dysarthria

NCBI chrNW_004955513:5,035,879...5,051,140
Ensembl chrNW_004955513:5,033,771...5,051,200

G

FA complementation group I

ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More...

NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480

G

mutS homolog 6

ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE

PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More...

NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More...

NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651

G

prickle planar cell polarity protein 2

ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More...

NCBI chrNW_004955517:1,501,322...1,806,996
Ensembl chrNW_004955517:1,501,706...1,802,169

G

twinkle mtDNA helicase

ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More...

NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697

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 chrNW_004955487:8,894,403...9,073,535
Ensembl chrNW_004955487:8,894,187...9,073,663

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:22022284 PMID:25741868

NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165

G

AT-hook DNA binding motif containing 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chrNW_004955452:6,767,250...6,832,989
Ensembl chrNW_004955452:6,767,266...6,832,868

G

alpha-methylacyl-CoA racemase

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818

G

adenosine monophosphate deaminase 2

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955435:13,029,377...13,040,972
Ensembl chrNW_004955435:13,028,916...13,043,928

G

apolipoprotein B

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:34445196

NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424

G

arylsulfatase A

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771

G

ATPase Na+/K+ transporting subunit alpha 2

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025

NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595

G

calcium voltage-gated channel subunit alpha1 G

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036

G

calcium voltage-gated channel auxiliary subunit beta 4

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955440:17,364,996...17,497,446
Ensembl chrNW_004955440:17,371,321...17,497,616

G

coiled-coil domain containing 88C

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955438:13,585,469...13,708,170

G

centrosomal protein 290

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212

G

CLN6 transmembrane ER protein

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955450:7,876,572...7,885,305
Ensembl chrNW_004955450:7,876,522...7,886,581

G

coenzyme Q4

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955570:837,216...846,653
Ensembl chrNW_004955570:837,216...846,653

G

DAB adaptor protein 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955464:2,325,529...2,721,497
Ensembl chrNW_004955464:2,455,346...2,724,358

G

aspartyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691

G

DNA methyltransferase 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462

G

ELOVL fatty acid elongase 4

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955502:7,764,451...7,774,503
Ensembl chrNW_004955502:7,764,359...7,774,572

G

ERCC excision repair 4, endonuclease catalytic subunit

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122

G

exosome component 8

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955431:9,048,210...9,058,079
Ensembl chrNW_004955431:9,049,896...9,058,264

G

fatty acid 2-hydroxylase

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:34445196

NCBI chrNW_004955484:2,726,496...2,775,763
Ensembl chrNW_004955484:2,726,362...2,775,903

G

FAT atypical cadherin 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chrNW_004955408:5,944,236...6,033,776
Ensembl chrNW_004955408:5,941,800...6,033,878

G

filamin C

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777

G

galactosylceramidase

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384

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 chrNW_004955581:291,537...294,752

G

galactosidase beta 1

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500

G

histidyl-tRNA synthetase 1

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955418:19,346...30,514
Ensembl chrNW_004955418:19,346...30,514

G

4-hydroxyphenylpyruvate dioxygenase like

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:32707086 PMID:33970200

NCBI chrNW_004955464:12,936,996...12,940,050

G

potassium calcium-activated channel subfamily M alpha 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955437:14,749,808...15,457,274
Ensembl chrNW_004955437:14,749,914...15,454,028

G

kinesin family member 1A

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chrNW_004955542:756,834...832,805
Ensembl chrNW_004955542:756,835...832,889

G

kinesin family member 1C

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955467:10,399,768...10,423,249
Ensembl chrNW_004955467:10,399,768...10,422,712

G

chromosome unknown open reading frame, human C19orf12

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955468:7,903,438...7,914,038
Ensembl chrNW_004955468:7,903,432...7,914,038

G

25-hydroxycholesterol 7-alpha-hydroxylase

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chrNW_004955492:4,161,976...4,371,637
Ensembl chrNW_004955492:4,209,749...4,369,762

G

MKS transition zone complex subunit 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chrNW_004955451:4,805,542...4,818,233
Ensembl chrNW_004955451:4,804,838...4,821,556

G

mitochondrial poly(A) polymerase

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955429:21,768,011...21,792,481
Ensembl chrNW_004955429:21,767,547...21,794,885

G

N-acetyl-alpha-glucosaminidase

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955451:16,445,338...16,449,243
Ensembl chrNW_004955451:16,445,338...16,450,062

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247

G

phosphoinositide-3-kinase regulatory subunit 5

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955467:8,025,231...8,091,406
Ensembl chrNW_004955467:8,065,857...8,091,486

G

phospholipase A2 group VI

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537

G

patatin like phospholipase domain containing 6

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:32579787

NCBI chrNW_004955563:1,681,112...1,703,287
Ensembl chrNW_004955563:1,680,818...1,703,287

G

RNA polymerase III subunit A

ClinVar Annotator: match by term: Spastic ataxia

PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More...

NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336

G

palmitoyl-protein thioesterase 1

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955452:17,518,345...17,549,112
Ensembl chrNW_004955452:17,529,115...17,549,664

G

pumilio RNA binding family member 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955452:9,487,725...9,623,565
Ensembl chrNW_004955452:9,487,725...9,624,066

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663

G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200

G

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971

G

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

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:34445196

NCBI chrNW_004955443:19,759,772...19,859,188
Ensembl chrNW_004955443:19,822,811...19,863,495

G

senataxin

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021

G

solute carrier family 1 member 3

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chrNW_004955426:21,371,985...21,450,749
Ensembl chrNW_004955426:21,371,985...21,451,069

G

solute carrier family 25 member 46

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955418:4,316,790...4,342,748
Ensembl chrNW_004955418:4,316,790...4,341,973

G

spastin

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955441:471,609...521,920
Ensembl chrNW_004955441:485,815...520,452

G

SPG11 vesicle trafficking associated, spatacsin

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chrNW_004955416:11,084,448...11,168,478
Ensembl chrNW_004955416:11,086,176...11,168,332

G

spectrin alpha, non-erythrocytic 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499

G

syntaxin binding protein 1

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759

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 chrNW_004955439:9,131,227...9,574,112

G

spectrin repeat containing nuclear envelope protein 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chrNW_004955466:5,646,516...5,926,382

G

transmembrane protein 67

ClinVar Annotator: match by term: Spastic ataxia

NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644

G

tau tubulin kinase 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chrNW_004955416:9,412,297...9,518,561
Ensembl chrNW_004955416:9,412,297...9,559,655

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Spastic ataxia

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

NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610

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 chrNW_004955413:4,108,044...4,116,413
Ensembl chrNW_004955413:4,108,052...4,115,760

G

vesicle associated membrane protein 1

ClinVar Annotator: match by term: Spastic ataxia 1

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

NCBI chrNW_004955413:4,117,367...4,124,149
Ensembl chrNW_004955413:4,117,367...4,124,149

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 chrNW_004955570:837,216...846,653
Ensembl chrNW_004955570:837,216...846,653

spastic ataxia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calmodulin binding transcription activator 2

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chrNW_004955467:10,375,017...10,391,546
Ensembl chrNW_004955467:10,375,017...10,392,363

G

cholinergic receptor nicotinic epsilon subunit

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chrNW_004955467:10,312,620...10,318,700
Ensembl chrNW_004955467:10,312,620...10,318,638

G

chromosome unknown C17orf107 homolog

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chrNW_004955467:10,313,693...10,314,724
Ensembl chrNW_004955467:10,313,769...10,314,694

G

enolase 3

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chrNW_004955467:10,363,154...10,368,261
Ensembl chrNW_004955467:10,361,705...10,368,755

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989

G

inhibitor of CDK, cyclin A1 interacting protein 1

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chrNW_004955467:10,391,957...10,397,212
Ensembl chrNW_004955467:10,392,219...10,397,168

G

kinesin family member 1C

ClinVar Annotator: match by term: Spastic ataxia 2

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

NCBI chrNW_004955467:10,399,768...10,423,249
Ensembl chrNW_004955467:10,399,768...10,422,712

G

profilin 1

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chrNW_004955467:10,357,838...10,360,651
Ensembl chrNW_004955467:10,357,838...10,360,651

G

ring finger protein 167

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chrNW_004955467:10,352,650...10,357,214
Ensembl chrNW_004955467:10,353,291...10,357,021

G

solute carrier family 25 member 11

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chrNW_004955467:10,349,378...10,352,649
Ensembl chrNW_004955467:10,349,378...10,355,368

G

sperm associated antigen 7

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chrNW_004955467:10,369,493...10,374,540
Ensembl chrNW_004955467:10,368,840...10,375,179

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

PMID:22448145 PMID:25741868 PMID:28492532

NCBI chrNW_004955403:2,967,541...2,970,443
Ensembl chrNW_004955403:2,968,574...2,970,387

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Autosomal recessive spastic ataxia

PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 More...

NCBI chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663

spastic ataxia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial poly(A) polymerase

ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4

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

NCBI chrNW_004955429:21,768,011...21,792,481
Ensembl chrNW_004955429:21,767,547...21,794,885

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

PMID:22022284 PMID:25401298 PMID:25741868 PMID:26454370 PMID:26467025 More...

NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165

G

tubulin beta 6 class V

ClinVar Annotator: match by term: Spastic ataxia 5

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

NCBI chrNW_004955402:1,071,135...1,081,385
Ensembl chrNW_004955402:1,070,858...1,081,385

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 chrNW_004955477:10,386,033...10,387,423
Ensembl chrNW_004955477:10,386,033...10,387,423

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 chrNW_004955416:8,090,034...8,131,605
Ensembl chrNW_004955416:8,090,034...8,132,870

SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase D interacting substrate 220

ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity

PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 More...

NCBI chrNW_004955487:782,683...862,079
Ensembl chrNW_004955487:782,683...862,079

Spinocerebellar Ataxia 27A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 14

ClinVar Annotator: match by term: Spinocerebellar ataxia 27A

PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 More...

NCBI chrNW_004955404:8,704,344...9,329,917
Ensembl chrNW_004955404:8,705,112...9,325,117

Spinocerebellar Ataxia 27B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 14

NCBI chrNW_004955404:8,704,344...9,329,917
Ensembl chrNW_004955404:8,705,112...9,325,117

spinocerebellar ataxia type 27

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 14

ClinVar Annotator: match by term: Spinocerebellar ataxia type 27

PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 More...

NCBI chrNW_004955404:8,704,344...9,329,917
Ensembl chrNW_004955404:8,705,112...9,325,117

G

integrin subunit beta like 1

ClinVar Annotator: match by term: Spinocerebellar ataxia type 27

NCBI chrNW_004955404:9,331,407...9,545,711
Ensembl chrNW_004955404:9,332,169...9,546,245

SPOAN syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin light chain 2

ClinVar Annotator: match by term: Spastic paraplegia, optic atropy, and neuropathy

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

NCBI chrNW_004955422:19,047,942...19,057,153
Ensembl chrNW_004955422:19,047,942...19,057,547

strabismus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-hook containing transcription factor 1

ClinVar Annotator: match by term: Strabismus

NCBI chrNW_004955406:9,687,237...9,754,426
Ensembl chrNW_004955406:9,688,749...9,744,998

G

bone morphogenetic protein 4

NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303

G

forkhead box P1

ClinVar Annotator: match by term: Strabismus

NCBI chrNW_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923

G

G protein subunit beta 1

ClinVar Annotator: match by term: Strabismus

PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More...

NCBI chrNW_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Strabismus

NCBI chrNW_004955455:14,679,416...14,960,226
Ensembl chrNW_004955455:14,679,416...14,957,532

G

neurofibromin 1

ClinVar Annotator: match by term: Strabismus

PMID:21520333 PMID:23656349 PMID:25741868 PMID:28492532 PMID:29089047 More...

NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179

G

olfactomedin 3

ClinVar Annotator: match by term: Strabismus, susceptibility to

NCBI chrNW_004955435:6,464,283...6,655,695
Ensembl chrNW_004955435:6,462,903...6,655,801

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Strabismus

PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 More...

NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203

G

glutaminyl-tRNA synthetase 1

ClinVar Annotator: match by term: Strabismus

PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474

NCBI chrNW_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

ClinVar Annotator: match by term: Strabismus

NCBI chrNW_004955495:2,021,671...2,105,155
Ensembl chrNW_004955495:2,021,566...2,105,397

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Strabismus

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chrNW_004955489:4,817,753...4,819,858
Ensembl chrNW_004955489:4,817,753...4,819,131

G

SRY-box transcription factor 5

ClinVar Annotator: match by term: Strabismus

NCBI chrNW_004955413:18,831,931...19,676,371
Ensembl chrNW_004955413:18,831,931...19,204,217

G

syntaxin binding protein 1

ClinVar Annotator: match by term: Strabismus

PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More...

NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Strabismus

PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227

NCBI chrNW_004955462:10,925,383...10,973,814
Ensembl chrNW_004955462:10,925,383...10,973,814

Trigeminal Nerve Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928

trigeminal neuralgia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

allograft inflammatory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955437:157,509...158,919
Ensembl chrNW_004955437:157,509...158,919

G

cyclin dependent kinase 5

NCBI chrNW_004955491:5,491,744...5,497,280
Ensembl chrNW_004955491:5,491,744...5,497,280

G

cyclin dependent kinase 5 regulatory subunit 1

NCBI chrNW_004955481:7,408,089...7,411,813
Ensembl chrNW_004955481:7,408,205...7,409,128

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728

G

gamma-aminobutyric acid type A receptor subunit gamma1

OMIM:190400

NCBI chrNW_004955443:2,276,592...2,353,312
Ensembl chrNW_004955443:2,276,555...2,347,983

G

glial fibrillary acidic protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955451:17,695,835...17,703,894
Ensembl chrNW_004955451:17,695,835...17,703,268

G

glutamate ionotropic receptor NMDA type subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152

G

mitogen-activated protein kinase 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784

G

mitogen-activated protein kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955408:391,094...430,638
Ensembl chrNW_004955408:391,094...430,981

G

protein kinase C gamma

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955604:262,182...279,259
Ensembl chrNW_004955604:262,071...279,259

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

vestibular schwannomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit beta 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,632,053...3,686,007
Ensembl chrNW_004955455:3,632,053...3,686,046

G

activating signal cointegrator 1 complex subunit 2

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:4,032,357...4,077,900
Ensembl chrNW_004955455:4,032,194...4,077,953

G

calcium binding protein 7

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,977,977...3,981,646
Ensembl chrNW_004955455:3,977,593...3,981,646

G

coiled-coil domain containing 117

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,019,373...3,034,891
Ensembl chrNW_004955455:3,019,710...3,034,559

G

checkpoint kinase 2

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173

G

chromosome unknown C22orf31 homolog

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,290,397...3,302,619

G

EMI domain containing 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,514,350...3,564,584
Ensembl chrNW_004955455:3,514,397...3,563,904

G

EWS RNA binding protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,571,025...3,599,975
Ensembl chrNW_004955455:3,571,025...3,601,975

G

growth arrest specific 2 like 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,613,092...3,618,476
Ensembl chrNW_004955455:3,613,092...3,621,306

G

HscB mitochondrial iron-sulfur cluster cochaperone

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,005,617...3,013,393

G

kringle containing transmembrane protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,308,740...3,368,690
Ensembl chrNW_004955455:3,320,346...3,368,690

G

cytochrome b-c1 complex subunit 9

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:4,013,197...4,015,448
Ensembl chrNW_004955455:4,013,134...4,018,570

G

neurofilament heavy chain

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,735,330...3,744,714
Ensembl chrNW_004955455:3,735,410...3,744,107

G

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 More...

NCBI chrNW_004955455:3,862,804...3,950,669
Ensembl chrNW_004955455:3,862,347...3,951,891

G

nipsnap homolog 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,796,445...3,815,290
Ensembl chrNW_004955455:3,795,413...3,815,289

G

RAS like family 10 member A

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,618,656...3,621,299
Ensembl chrNW_004955455:3,618,656...3,621,299

G

rhomboid domain containing 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,564,867...3,570,910
Ensembl chrNW_004955455:3,564,867...3,570,798

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)

NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097

G

THO complex subunit 5

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,761,933...3,795,517
Ensembl chrNW_004955455:3,761,874...3,795,517

G

vascular endothelial growth factor A

PMID:19587327 PMID:20406973

RGD:8547955 RGD:8547957

NCBI chrNW_004955437:9,527,445...9,541,908

G

X-box binding protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,037,885...3,041,827

G

zinc finger matrin-type 5

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,981,753...4,013,138
Ensembl chrNW_004955455:3,980,134...4,011,664

G

zinc and ring finger 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chrNW_004955455:3,066,957...3,289,836
Ensembl chrNW_004955455:3,228,603...3,286,290

Vestibulocochlear Nerve Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 2

mRNA:increased expression:Vestibulocochlear nerve:

NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980

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

ClinVar Annotator: match by term: Warburg micro syndrome

PMID:25741868 PMID:28492532

NCBI chrNW_004955462:1,380,158...1,411,804
Ensembl chrNW_004955462:1,380,156...1,411,804

G

RAB3 GTPase activating protein catalytic subunit 1

ClinVar Annotator: match by term: Warburg micro syndrome

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

NCBI chrNW_004955440:2,551,015...2,645,938
Ensembl chrNW_004955440:2,550,982...2,646,331

G

RAB3 GTPase activating non-catalytic protein subunit 2

ClinVar Annotator: match by term: Warburg micro syndrome

NCBI chrNW_004955520:3,411,504...3,483,703
Ensembl chrNW_004955520:3,411,770...3,483,413

G

TBC1 domain family member 20

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955597:291,541...313,799
Ensembl chrNW_004955597:291,541...314,292

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 chrNW_004955440:2,551,015...2,645,938
Ensembl chrNW_004955440:2,550,982...2,646,331

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 chrNW_004955520:3,411,504...3,483,703
Ensembl chrNW_004955520:3,411,770...3,483,413

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

ClinVar Annotator: match by term: Warburg micro syndrome 3

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

NCBI chrNW_004955462:1,380,158...1,411,804
Ensembl chrNW_004955462:1,380,156...1,411,804

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

ClinVar Annotator: match by term: Warburg micro syndrome 4

PMID:24239381 PMID:25741868 PMID:32740904

NCBI chrNW_004955597:291,541...313,799
Ensembl chrNW_004955597:291,541...314,292

WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger CCCH-type containing 12B

ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted

NCBI chrNW_004955475:4,676,190...5,162,108
Ensembl chrNW_004955475:5,126,158...5,162,108

G

zinc finger C4H2-type containing

ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted

PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972

NCBI chrNW_004955475:4,569,263...4,604,571
Ensembl chrNW_004955475:4,568,005...4,604,577

Wolfram syndrome

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: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome

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

NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610

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

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

NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610

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

PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More...

NCBI chrNW_004955496:5,656,686...5,672,888
Ensembl chrNW_004955496:5,656,686...5,673,529

G

CDGSH iron sulfur domain 3

ClinVar Annotator: match by term: Wolfram syndrome 2

NCBI chrNW_004955451:13,814,679...13,817,334
Ensembl chrNW_004955451:13,814,135...13,817,334

G

polycomb group ring finger 2

ClinVar Annotator: match by term: Wolfram syndrome 2

NCBI chrNW_004955451:13,817,559...13,822,342
Ensembl chrNW_004955451:13,817,559...13,832,653

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 chrNW_004955496:5,586,836...5,637,550
Ensembl chrNW_004955496:5,601,578...5,641,594

X-linked deafness 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor mitochondria associated 1

ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5

PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270

NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428

G

RAB33A, member RAS oncogene family

ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5

PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270

NCBI chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177

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: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked

NCBI chrNW_004955489:8,280,842...8,286,252
Ensembl chrNW_004955489:8,280,794...8,286,252

Term paths to the root

Path 1
Term	Annotations
disease	14206
disease of anatomical entity	13864
nervous system disease	12142
peripheral nervous system disease	3841
neuropathy	3658
cranial nerve disease	645
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY	1
Cranial Nerve Injuries +	79
Cranial Nerve Neoplasms +	4
Cranial Nerves, Congenital Paresis of	0
Cranial Nerves, Recurrent Paresis of	0
OCULOMOTOR-ABDUCENS SYNKINESIS	1
Ophthalmoplegic Migraine	0
Vagus nerve disease +	10
cranial nerve palsy +	0
facial nerve disease +	50
glossopharyngeal nerve disease +	31
hypoglossal nerve disease +	20
jaw-winking syndrome	2
ocular motility disease +	225
olfactory nerve disease +	1
optic nerve disease +	347
third cranial nerve disease +	2
trigeminal nerve disease +	15
trochlear nerve disease +	0
vestibulocochlear nerve disease +	37

paths to the root