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 (822) Mouse (852) Human (18270) Chinchilla (771) Bonobo (806) Dog (813) Squirrel (778) Pig (804) Green Monkey (803) Naked Mole-rat (768) All
Genes (821) Strains (1)

3-methylglutaconic aciduria type 3

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C19

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

PMID:16055927 PMID:27928778 PMID:28492532

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

G

OPA1, mitochondrial dynamin like GTPase

ClinVar Annotator: match by term: Costeff optic atrophy syndrome

PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More...

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

G

outer mitochondrial membrane lipid metabolism regulator OPA3

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

OMIM
ClinVar
MouseDO
CTD

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

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

3MC syndrome 2

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Object Name

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Evidence

Notes

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PubMed Reference(s)

RGD Reference(s)

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collectin sub-family member 11

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition

OMIM
CTD
ClinVar

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

NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145

G

MBL associated serine protease 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974

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 chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626

acoustic neuroma

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PubMed Reference(s)

RGD Reference(s)

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G

artemin

mRNA:increased expression:peripheral nerve:

RGD

NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025

G

brain-derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

RGD

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

G

caveolin 1

RGD

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

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cyclin-dependent kinase inhibitor 1A

mRNA,protein:decreased expression:myelinated nerve:

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

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cytochrome P450, family 2, subfamily e, polypeptide 1

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

RGD

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

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

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

Fibroblast growth factor receptor 1

disease_progression

RGD

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

glial cell derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

RGD

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

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insulin-like growth factor 1

susceptibility

protein:increased expression:serum:

RGD

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

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insulin-like growth factor binding protein 3

susceptibility

protein:increased expression:serum:

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

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

protein:decreased expression:myelinated nerve:
ClinVar Annotator: match by term: Acoustic neuroma

PMID:8081368 PMID:8757035 PMID:12118253 PMID:25741868 PMID:28492532 More...

NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667

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vascular endothelial growth factor A

RGD

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

Alazami-Yuan Syndrome

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PubMed Reference(s)

RGD Reference(s)

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G

adaptor related protein complex 4 subunit mu 1

ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition

PMID:25741868 PMID:28492532

NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026

G

La ribonucleoprotein 7, transcriptional regulator

ClinVar Annotator: match by term: Alazami-Yuan syndrome

NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865

G

TATA-box binding protein associated factor 6

ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition

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

NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247

anterior ischemic optic neuropathy

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PubMed Reference(s)

RGD Reference(s)

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beclin 1

protein:decreased expression:retina

RGD

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

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colony stimulating factor 3

treatment

RGD

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

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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

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

RGD

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

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nitric oxide synthase 3

susceptibility

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

RGD

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

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 chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538

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

Athabaskan brainstem dysgenesis syndrome

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PubMed Reference(s)

RGD Reference(s)

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homeobox A1

CTD Direct Evidence: marker/mechanism
OMIM:601536
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
DNA:mutations:cds:185delG,175-176insG,76C>T(human)

CTD
MouseDO
ClinVar
OMIM
RGD

PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 More...

NCBI chr 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504

G

homeobox A2

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

NCBI chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044

autoimmune optic neuritis

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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G

neurofilament heavy chain

severity

RGD

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

autosomal dominant distal hereditary motor neuronopathy 7

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PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 138

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

NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376

G

ectodysplasin-A receptor

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

NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494

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GRIP and coiled-coil domain containing 2

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

NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613

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LIM zinc finger domain containing 1

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

NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500

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RAN binding protein 2

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

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258

G

sulfotransferase family 1C member 2A

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

NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734

G

sulfotransferase family 1C member 3

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

NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030

autosomal dominant progressive external ophthalmoplegia 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FA complementation group I

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 chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640

G

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:9536098 More...

NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

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 chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8644740 PMID:9207786 PMID:10364542 PMID:10926541 PMID:11756613 More...

NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mast cell immunoglobulin-like receptor 1

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

PMID:9536098 PMID:16685652 PMID:17576681 PMID:19513667 PMID:21138766 More...

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

G

DNA polymerase gamma 2, accessory subunit

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16685652 PMID:17576681 PMID:19513667 PMID:21138766 More...

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

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8130196 PMID:12859174 PMID:17486094 PMID:18504129 PMID:19664747 More...

NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633

autosomal dominant Wolfram syndrome

term browser

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

cyclin-dependent kinase 13

ClinVar Annotator: match by term: Wolfram-like disorder

PMID:25741868 PMID:28492532 PMID:33879837

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

G

wolframin ER transmembrane glycoprotein

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

OMIM
ClinVar
CTD

PMID:3126496 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More...

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

autosomal recessive congenital nystagmus

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

roundabout guidance receptor 1

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

PMID:25741868 PMID:28492532 PMID:35348658

NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203

autosomal recessive progressive external ophthalmoplegia 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD 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 chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640

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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 chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

G

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 chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066

G

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 chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2

term browser

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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ribonuclease H1

ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | ClinVar Annotator: match by term: RNASEH1-related condition

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

NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3

term browser

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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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 | ClinVar Annotator: match by term: TK2-related condition

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

NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4

term browser

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PubMed Reference(s)

RGD Reference(s)

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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:12205643 PMID:14623087 PMID:16908739 More...

NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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 chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559

Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

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 chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261

Behr syndrome

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

OPA1, mitochondrial dynamin like GTPase

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

CTD
OMIM
ClinVar

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

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

Bell's palsy

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peptidylprolyl isomerase A

exacerbates

protein:increased expression:blood serum (human)

RGD

NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601

bilateral optic nerve hypoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired box 6

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

OMIM
ClinVar
CTD

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

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

Blepharophimosis Syndrome Type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box L2

CTD Direct Evidence: marker/mechanism
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 chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427

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 chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427

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 chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197

G

forkhead box L2

DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome | ClinVar Annotator: match by term: FOXL2-related condition
OMIM:110100
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

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

NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427

G

mitochondrial ribosomal protein S22

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

NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291

Bosch-Boonstra-Schaaf optic atrophy syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ARB2 cotranscriptional regulator A

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

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

G

KIAA0825 homolog

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

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

G

nuclear receptor subfamily 2, group F, member 1

ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome | ClinVar Annotator: match by term: NR2F1-related condition
OMIM:615722

OMIM
ClinVar
MouseDO

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

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

G

POU domain class 5, transcription factor 2

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

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

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

PMID:25741868 PMID:39033378

NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031

G

TOG array regulator of axonemal microtubules 1

ClinVar Annotator: match by term: Brown syndrome

PMID:25741868 PMID:39033378

NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807

G

tubulin, beta 4A class IVa

ClinVar Annotator: match by term: Brown syndrome

PMID:25741868 PMID:39033378

NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291

CAPOS Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 3

DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

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

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

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 chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343

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 More...

NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomixer, myoblast fusion factor

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

NCBI chr 9:15,397,086...15,398,263
Ensembl chr 9:15,397,144...15,398,263

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:28492532 PMID:31448845

NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255

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 chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483

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 chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640

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 chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

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 chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

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 chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232

G

BICD cargo adaptor 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form

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

NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889

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 chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061

G

leucine rich repeat and sterile alpha motif containing 1

CTD Direct Evidence: marker/mechanism

PMID:22781092 PMID:27686364

NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154

Charcot-Marie-Tooth disease X-linked recessive 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoribosyl pyrophosphate synthetase 1

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

OMIM
ClinVar
CTD

PMID:3278127 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 More...

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

Charlevoix-Saguenay spastic ataxia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and FYVE domain containing 1

OMIM:270550

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

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia of Charlevoix-Saguenay
OMIM:270550
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:8472930 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 More...

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

G

sarcoglycan, gamma

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

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

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

G

transforming growth factor, beta receptor 1

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

PMID:25326637 PMID:28492532

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

childhood-onset dystonia with optic atrophy and basal ganglia abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial trans-2-enoyl-CoA reductase

ClinVar Annotator: match by term: DYSTONIA 29, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | ClinVar Annotator: match by term: MECR-related condition

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

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

Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 44 member 1

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

PMID:25741868 PMID:28097321 PMID:31855247

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

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 chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449

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 chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304

G

bombesin receptor subtype 3

ClinVar Annotator: match by term: Christianson syndrome

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

NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983

G

CD40 ligand

ClinVar Annotator: match by term: Christianson syndrome

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

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cyclin-dependent kinase-like 5

ClinVar Annotator: match by term: Angelman syndrome-like

PMID:15499549 PMID:16015284 PMID:16611748 PMID:16813600 PMID:17993579 More...

NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582

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 chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928

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 chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958

G

HIVEP zinc finger 2

ClinVar Annotator: match by term: Angelman syndrome-like

NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993

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 chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607

G

MAP7 domain containing 3

ClinVar Annotator: match by term: Christianson syndrome

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

NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841

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

G

retinoschisin 1

ClinVar Annotator: match by term: Angelman syndrome-like

PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More...

NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115

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: SLC9A6-related condition
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
OMIM:300243
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375

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 chr X:134,979,657...134,996,007

G

Zic family member 3

ClinVar Annotator: match by term: Christianson syndrome

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

NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746

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

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

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

G

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

G

DNA polymerase gamma, catalytic subunit

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

CTD
RGD

PMID:17923349 PMID:11431686 PMID:17420318 PMID:16401742 PMID:12565911 More...

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

NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

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

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 chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633

G

solute carrier family 25 member 4

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

PMID:12565915 PMID:15792871

RGD:1580622, RGD:1580620

NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

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

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:11907800 PMID:14680979

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

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 chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802

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 | ClinVar Annotator: match by term: TUBB6-related condition

PMID:25741868 PMID:29016863 PMID:39033378

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

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 chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910

G

fibroblast growth factor 21

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

NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454

G

HRas proto-oncogene, GTPase

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

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

kinesin family member 21A

OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL

MouseDO
ClinVar

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

NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999

G

leucine rich repeat containing 56

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

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

minichromosome maintenance complex component 3 associated protein

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

PMID:25741868 PMID:39033378

NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165

G

myosin heavy chain 10

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

NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165

G

nestin

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

NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777

G

tubulin, alpha 1A

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

PMID:20466733 PMID:25741868 PMID:30517687 PMID:31269740 PMID:33649541

NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186

G

tubulin, alpha 1B

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

PMID:25741868 PMID:39033378

NCBI chr 7:130,090,663...130,093,644
Ensembl chr 7:130,081,032...130,196,186

G

tubulin, beta 3 class III

OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles

MouseDO
ClinVar

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

G

tubulin, beta 5 class I

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

PMID:25741868 PMID:39033378

NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940

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

DNA:missense mutation:CDS:2860C>T (p.R954W) (human)
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
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

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

NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2

OMIM
CTD
ClinVar

PMID:11600883 PMID:25741868

NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118

congenital fibrosis of the extraocular muscles 3A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin, beta 3 class III

ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-related disorder | ClinVar Annotator: match by term: TUBB3-related tubulinopathy
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 More...

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

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: COL25A1-related condition | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5

PMID:25500261 PMID:25741868 PMID:28492532 PMID:31875546

NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501

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 chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590

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
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore 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
OMIM:255320
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
MouseDO
CTD

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

NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812

G

SRSF protein kinase 3

ClinVar Annotator: match by term: Multiminicore myopathy

NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198

G

titin

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

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

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 chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029

G

growth arrest specific 7

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

NCBI chr10:52,152,718...52,383,283
Ensembl chr10:52,152,493...52,383,276

G

glucagon-like peptide 2 receptor

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

NCBI chr10:52,402,748...52,466,012
Ensembl chr10:52,402,748...52,466,012

G

myotubularin related protein 3

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

NCBI chr14:79,340,523...79,460,947
Ensembl chr14:79,340,513...79,461,041

G

myosin heavy chain 1

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

NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295

G

myosin heavy chain 13

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

NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951

G

myosin heavy chain 2

ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr10:51,856,738...51,883,236
Ensembl chr10:51,856,738...51,883,236

G

myosin heavy chain 3

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

NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992

G

myosin heavy chain 4

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

NCBI chr10:51,923,149...51,946,297
Ensembl chr10:51,885,913...51,946,295

G

myosin heavy chain 8

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

NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232

G

recoverin

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

NCBI chr10:52,388,706...52,396,454
Ensembl chr10:52,388,706...52,396,453

G

synthesis of cytochrome C oxidase 1

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

NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237

G

valosin-containing protein

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

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

NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

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

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

activating transcription factor 6

CTD Direct Evidence: marker/mechanism

NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177

G

myosin VIIA

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

RGD

NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157

G

paired box 6

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

RGD

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

G

roundabout guidance receptor 1

ClinVar Annotator: match by term: Congenital nystagmus

PMID:25741868 PMID:28492532 PMID:35348658

NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203

G

retinoid isomerohydrolase RPE65

CTD Direct Evidence: marker/mechanism

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

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: FRMD7-related condition | ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked
OMIM:310700
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:16020310 PMID:17013395 PMID:17397053 PMID:17768376 PMID:17893669 More...

NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771

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 chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715

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 chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203

conjugate gaze palsy

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: Conjugate gaze palsy

PMID:15105459 PMID:16525029 PMID:21850172 PMID:25741868 PMID:32373565 More...

NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315

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 chr17:8,362,878...8,364,397
Ensembl chr17:8,362,821...8,364,571

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

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

deafness-dystonia-optic neuronopathy syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Deafness dystonia syndrome

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

G

translocase of inner mitochondrial membrane 8A1

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

ClinVar
CTD
OMIM
RGD

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

RGD:13209130, RGD:13209136, RGD:13209134

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

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 chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216

dominant optic atrophy plus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OPA1, mitochondrial dynamin like GTPase

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

CTD
OMIM
ClinVar

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

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

Doyne honeycomb retinal dystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EGF containing fibulin extracellular matrix protein 1

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

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:15785976 More...

RGD:1598888, RGD:10401794, RGD:10401791

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

G

peripherin 2

ClinVar Annotator: match by term: MALATTIA LEVENTINESE

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

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

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 chr 9:38,928,819...38,938,483
Ensembl chr 9:38,929,912...38,938,507

G

chimerin 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duane retraction syndrome
OMIM:126800 | OMIM:604356

CTD
ClinVar
MouseDO

NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490

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 chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252

G

cut-like homeobox 1

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
Ensembl chr 4:20,107,311...20,425,866

G

FER tyrosine kinase

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chr 9:103,520,452...103,827,364
Ensembl chr 9:103,520,493...103,821,451

G

forkhead box L2

ClinVar Annotator: match by term: Duane retraction syndrome

PMID:25741868 PMID:39033378

NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427

G

GNAS complex locus

ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

kinesin family member 5C

ClinVar Annotator: match by term: Duane retraction syndrome

NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413

G

MAF bZIP transcription factor B

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

NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Duane retraction syndrome

PMID:25741868 PMID:39033378

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

spalt-like transcription factor 4

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

CTD
RGD

PMID:16402211 PMID:30067223 PMID:12393809 PMID:26791099 PMID:12395297 More...

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

NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822

G

tubulin, alpha 8

ClinVar Annotator: match by term: Duane retraction syndrome

PMID:25741868 PMID:39033378

NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917

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 chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031

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: CHN1-related condition | ClinVar Annotator: match by term: Duane retraction syndrome 2

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

NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490

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

PMID:20436469 PMID:24989131 PMID:25741868 PMID:27181683 PMID:28492532

NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031

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 chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929

G

angiopoietin-like 8

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490

G

bestrophin 2

ClinVar Annotator: match by term: Episodic ataxia type 2

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

NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339

G

similar to human chromosome 19 open reading frame 38

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696

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
OMIM:108500
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
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

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

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

G

calreticulin

ClinVar Annotator: match by term: Episodic ataxia type 2

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

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

coactivator-associated arginine methyltransferase 1

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689

G

coiled-coil domain containing 159

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,457,905...20,467,232
Ensembl chr 8:20,457,909...20,466,562

G

calponin 1

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,632,434...20,641,097
Ensembl chr 8:20,632,338...20,641,098

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 chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589

G

deoxyhypusine synthase

ClinVar Annotator: match by term: Episodic ataxia type 2

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

NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881

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 chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376

G

dynamin 2

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157

G

dedicator of cytokinesis 6

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552

G

ECSIT signaling integrator

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,605,583...20,618,453
Ensembl chr 8:20,605,583...20,618,390

G

ELAV like RNA binding protein 3

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641

G

elongation factor 1

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,645,336...20,650,888
Ensembl chr 8:20,645,336...20,650,579

G

erythropoietin receptor

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

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 chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980

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 chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439

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 chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236

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 chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681

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 chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193

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 chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181

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 chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211

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 chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035

G

KN motif and ankyrin repeat domains 2

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900

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 chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758

G

low density lipoprotein receptor

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

zinc finger protein 709-like

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 7:11,846,077...11,868,732
Ensembl chr 7:11,845,560...11,868,717

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 chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007

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 chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389

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 chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235

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 chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528

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 chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265

G

outer dynein arm docking complex subunit 3

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499

G

peroxiredoxin 2

ClinVar Annotator: match by term: Episodic ataxia type 2

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

NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194

G

PRKCSH beta subunit of glucosidase II

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492

G

RAB3D, member RAS oncogene family

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,438,622...20,449,269
Ensembl chr 8:20,439,294...20,449,185

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 chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695

G

ral guanine nucleotide dissociation stimulator like 3

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,500,846...20,520,471
Ensembl chr 8:20,500,846...20,520,471

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 chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041

G

retbindin

ClinVar Annotator: match by term: Episodic ataxia type 2

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

NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975

G

SPC24 component of NDC80 kinetochore complex

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310

G

SWIM-type zinc finger 7 associated protein 1

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,486,680...20,489,213
Ensembl chr 8:20,486,678...20,489,211

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 chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980

G

translocase of inner mitochondrial membrane 29

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,145,264...20,148,233

G

transmembrane p24 trafficking protein 1

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677

G

transmembrane protein 205

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,452,092...20,458,011
Ensembl chr 8:20,452,092...20,457,828

G

transportin 2

ClinVar Annotator: match by term: Episodic ataxia type 2

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

NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596

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 chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510

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 chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956

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 chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563

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 chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894

G

Yip1 domain family, member 2

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339

G

zinc finger protein 653

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,586,607...20,605,439
Ensembl chr 8:20,586,563...20,604,864

G

zinc finger protein 709

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr16:17,907,599...17,920,047
Ensembl chr16:17,909,641...17,919,700

G

zinc finger protein 791

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:20097664 PMID:21183743 PMID:23831250 PMID:26814174 PMID:28007337 More...

NCBI chr19:23,018,418...23,033,580
Ensembl chr19:23,018,918...23,033,504

G

zinc finger protein 799

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 7:11,894,224...11,910,809
Ensembl chr 7:11,898,149...11,910,798

G

zinc finger protein 866

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr16:19,653,966...19,675,968
Ensembl chr16:19,668,258...19,675,932

G

zinc finger protein 867

ClinVar Annotator: match by term: Episodic ataxia type 2

PMID:20097664 PMID:21183743 PMID:23831250 PMID:26814174 PMID:28007337 More...

NCBI chr10:44,244,813...44,255,223
Ensembl chr10:44,245,880...44,255,395

G

zinc finger protein 873

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 7:7,926,951...7,959,822
Ensembl chr 7:7,926,957...7,951,803

G

zinc finger protein 878

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr16:17,856,860...17,887,122
Ensembl chr16:17,856,878...17,868,403

G

zinc finger protein 951

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr14:5,032,494...5,048,775
Ensembl chr14:5,033,734...5,048,756

G

zinc finger protein 69 like

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 3:138,545,521...138,560,500
Ensembl chr 3:138,544,658...138,557,896

G

zinc finger protein 709 like

ClinVar Annotator: match by term: Episodic ataxia type 2

NCBI chr 8:20,710,114...20,721,236
Ensembl chr 8:20,710,461...20,720,246

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epithelial basement membrane dystrophy

OMIM
CTD
ClinVar

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

NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240

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 chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507

exotropia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activator of transcription and developmental regulator AUTS2

ClinVar Annotator: match by term: concomitant exotropia

PMID:25741868 PMID:28492532

NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416

G

cadherin 3

ClinVar Annotator: match by term: concomitant exotropia

NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084

G

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: concomitant exotropia

NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839

G

HECT and RLD domain containing E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: concomitant exotropia

NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134

G

lipoxygenase homology PLAT domains 1

ClinVar Annotator: match by term: concomitant exotropia

PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386

NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983

G

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

ClinVar Annotator: match by term: concomitant exotropia

PMID:25741868 PMID:28492532

NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757

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

RGD

NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773

G

activating transcription factor 2

RGD

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

G

C-C motif chemokine receptor 3

RGD

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

CD59b molecule

mRNA, protein:increased expression:facial VII nucleus

RGD

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

G

clusterin

protein:increased expression:neuron,astrocyte

RGD

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

G

colony stimulating factor 1

protein:increased expression:facial VII nerve, microglial cell

RGD

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

cathepsin S

RGD

NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483

G

GDNF family receptor alpha 1

mRNA:increased expression:facial VII nucleus

RGD

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

G

hepatocyte growth factor

treatment

RGD

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

G

metallothionein 3

treatment

RGD

NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158

G

NADH:ubiquinone oxidoreductase subunit A5

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
Ensembl chr 5:52,995,546...53,005,598

G

ret proto-oncogene

mRNA:increased expression:facial VII nucleus

RGD

NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

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

RGD

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

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

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 chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740

G

roundabout guidance receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315

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 | ClinVar Annotator: match by term: ROBO3-related condition

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

NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315

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 chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740

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 chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275

G

G protein-coupled receptor 143

ClinVar Annotator: match by term: GPR143-related foveal hypoplasia

PMID:15965158 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 More...

NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715

G

neural retina leucine zipper

ClinVar Annotator: match by term: Foveal hypoplasia

PMID:25741868 PMID:28492532 PMID:29385733

NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832

G

outer mitochondrial membrane lipid metabolism regulator OPA3

ClinVar Annotator: match by term: Foveal hypoplasia

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

G

solute carrier family 38, member 8

ClinVar Annotator: match by term: Foveal hypoplasia

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

NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726

G

tyrosinase

ClinVar Annotator: match by term: Foveal hypoplasia

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

NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207

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 chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

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

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 | ClinVar Annotator: match by term: SLC38A8-related condition
OMIM:609218
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726

Foveal Hypoplasia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor

ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 3 | ClinVar Annotator: match by term: Infantile nystagmus with foveal hypoplasia

PMID:25741868 PMID:31009037 PMID:33193710 PMID:35188035

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

GAPO syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 1

DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANTXR1-related condition | ClinVar Annotator: match by term: GAPO syndrome

OMIM
CTD
ClinVar
RGD

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

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

Halperin-Birk syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SEC31 homolog A, COPII coat complex component

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

PMID:25741868 PMID:30464055

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

Hereditary Congenital Facial Paresis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeo box B1

CTD Direct Evidence: marker/mechanism

NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836

Hereditary Congenital Facial Paresis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeo box B1

ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 | ClinVar Annotator: match by term: HOXB1-related condition

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

NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836

Hereditary Optic Atrophies

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium/calmodulin dependent serine protein kinase

RGD

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

G

guanylate cyclase 2E

ClinVar Annotator: match by term: Autosomal recessive optic atrophy

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

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

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

CTD Direct Evidence: marker/mechanism

PMID:8662757 PMID:11695835

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

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

CTD Direct Evidence: marker/mechanism

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

G

transmembrane protein 126A

ClinVar Annotator: match by term: Optic Atrophy, Recessive

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

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

RGD

NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673

G

ADAM metallopeptidase with thrombospondin type 1 motif, 1

mRNA:increased expression:hypoglossal nerve

RGD

NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103

G

allograft inflammatory factor 1

RGD

NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668

G

casein kinase 2 beta

RGD

NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133

G

fibroblast growth factor 2

RGD

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

G

Fibroblast growth factor receptor 1

RGD

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

GDNF family receptor alpha 1

mRNA:increased expression:hypoglossal XII nerve

RGD

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

G

interleukin 1 receptor type 1

mRNA:increased expression:hypoglossal nerve

RGD

NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937

G

melanoma cell adhesion molecule

RGD

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

G

membrane metallo-endopeptidase

RGD

NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792

G

protein kinase cAMP-activated catalytic subunit alpha

RGD

NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430

G

protein kinase cAMP-activated catalytic subunit beta

RGD

NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198

G

ret proto-oncogene

mRNA:increased expression:hypoglossal XII nerve

RGD

NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

G

SMAD family member 1

mRNA:increased expression:hypoglossal nucleus

RGD

NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651

G

SMAD family member 2

mRNA:increased expression:hypoglossal nucleus

RGD

NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323

G

SMAD family member 3

mRNA:increased expression:hypoglossal nucleus

RGD

NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960

G

SMAD family member 4

mRNA:increased expression:hypoglossal nucleus

RGD

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

SMAD family member 7

mRNA:increased expression:hypoglossal nucleus

RGD

NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765

G

SMAD family member 9

mRNA:decreased expression:hypoglossal nucleus

RGD

NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307

G

thioredoxin reductase 1

mRNA, protein:increased expression:neuron

RGD

NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863

Impaired intellectual development, 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: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition

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

NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541

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:2854533 PMID:3248392 PMID:9536098 PMID:17576681 PMID:22405087 More...

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

G

RNA polymerase III subunit H

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

PMID:2854533 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 More...

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

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

isolated microphthalmia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

apolipoprotein A1

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

apolipoprotein A4

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

apolipoprotein C3

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

archain 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

Rho guanine nucleotide exchange factor 12

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

ATP synthase membrane subunit G

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

beta-secretase 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

BCL9 like

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

C1q and TNF related 5

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

PMID:1258954 PMID:3196484 PMID:9536098 PMID:12140190 PMID:15976030 More...

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

G

C2CD2-like

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

CD3 delta subunit of T-cell receptor complex

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

centrosomal AT-AC splicing factor

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

centrosomal protein 164

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

C-X-C motif chemokine receptor 5

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

DEAD-box helicase 6

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

dynein regulatory complex subunit 12 homolog

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

DS cell adhesion molecule-like 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

forkhead box R1

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

FXYD domain-containing ion transport regulator 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

FXYD domain-containing ion transport regulator 6

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

glutamate ionotropic receptor kainate type subunit 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

H2A.X variant histone

ClinVar Annotator: match by term: Isolated microphthalmia 5

NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
Ensembl chr 4:44,671,786...44,673,239

G

histone H4 transcription factor

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

hydroxymethylbilane synthase

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

hypoxia up-regulated 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

intraflagellar transport 46

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

interleukin 10 receptor subunit alpha

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

junction adhesion molecule like

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

melanoma cell adhesion molecule

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

membrane frizzled-related protein

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

OMIM
ClinVar
RGD

PMID:1258954 PMID:3196484 PMID:9536098 PMID:12140190 PMID:15976030 More...

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

G

myelin protein zero-like 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

myelin protein zero-like 3

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

NHERF family PDZ scaffold protein 4

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

NLR family member X1

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

out at first homolog

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

platelet-activating factor acetylhydrolase 1b, catalytic subunit 2

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

pleckstrin homology-like domain, family B, member 1

ClinVar Annotator: match by term: Isolated microphthalmia 5

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

G

POU class 2 homeobox 3