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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:ocular motility disease
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Accession:DOID:1279 term browser browse the term
Definition:Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
Synonyms:exact_synonym: Convergence Excess;   Convergence Excesses;   Convergence Insufficiencies;   Convergence Insufficiency;   Cyclophoria;   Cyclophorias;   Eye Motility Disorder;   Eye Motility Disorders;   Eye Movement Disorder;   Eye Movement Disorders;   Ocular Motility Disorder;   Ocular Motility Disorders;   Ocular Torticollis;   Opsoclonus;   Parinaud Syndrome;   Parinaud's Syndrome;   Parinauds Syndrome;   Paroxysmal Ocular Dyskinesia;   Paroxysmal Ocular Dyskinesias;   Pseudoophthalmoplegia;   Pseudoophthalmoplegias;   Skew Deviation;   Skew Deviations;   Smooth Pursuit Deficiencies;   conjugate gaze spasm;   conjugate gaze spasms;   disorder of eye movements;   smooth pursuit deficiency;   spasm of conjugate gaze
 primary_id: MESH:D015835
 xref: GARD:7061;   GARD:7237;   ICD9CM:378.9
For additional species annotation, visit the Alliance of Genome Resources.


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3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Carnevale syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:265050
OMIM
ClinVar
CTD
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:11295558 PMID:25558065 PMID:25574841 PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:26633546 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome
ClinVar Annotator: match by term: Bosley Salih Alorainy syndrome
ClinVar Annotator: match by term: Athabaskan Brainstem Dysgenesis Syndrome
ClinVar Annotator: match by synonym: Bosley-Salih-Alorainy syndrome
DNA:mutations:cds:185delG,175-176insG,76C>T(human)
ClinVar Annotator: match by OMIM:601536
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532, PMID:18412118 RGD:11553818 NCBI chr 4:82,124,358...82,127,182
Ensembl chr 4:82,125,406...82,127,066
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chr 4:82,130,441...82,134,846
Ensembl chr 4:82,131,329...82,133,605
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by OMIM:157640
OMIM
ClinVar
PMID:632821 PMID:2067633 PMID:2725645 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12565911 PMID:12872260 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17420318 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23783014 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25326637 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25741868 PMID:25850945 PMID:26095671 PMID:26104464 PMID:26357557 PMID:26467025 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28284481 PMID:28337550 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28901595 PMID:29029963 PMID:29190809 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29992832 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by OMIM:609283
OMIM
ClinVar
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 PMID:25741868 PMID:28492532 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:609286
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar
OMIM
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:15668446 PMID:17614277 PMID:19353676 PMID:19513767 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:28812649 PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by OMIM:610131
OMIM
ClinVar
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28492532 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by OMIM:613077
OMIM
ClinVar
PMID:19664747 PMID:21646632 PMID:26467025 PMID:28492532 PMID:28812649 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:16754800 PMID:23549607 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25637381 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO 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
OMIM
ClinVar
PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25326637 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25914719 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ClinVar
OMIM
PMID:26094573 NCBI chr 6:47,916,188...47,925,582
Ensembl chr 6:47,916,188...47,925,571
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 ClinVar
OMIM
PMID:15907288 PMID:21937588 PMID:25326635 PMID:25741868 NCBI chr19:917,203...939,236
Ensembl chr19:917,203...939,221
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by OMIM:617070
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
ClinVar
OMIM
PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:18205204 PMID:23043144 PMID:25741868 PMID:26874653 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 ClinVar
OMIM
PMID:25741868 PMID:29290614 NCBI chr10:46,980,646...47,018,728
Ensembl chr10:46,981,958...47,018,537
JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 2 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:18372316 PMID:21325395 PMID:25741868 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Foxl2 forkhead box L2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar Annotator: match by term: BPES with Duane retraction syndrome
ClinVar Annotator: match by term: BPES with ovarian failure
ClinVar Annotator: match by term: BPES without ovarian failure
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:110100
ClinVar
CTD
OMIM
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:19429596 PMID:25741868 PMID:30311386, PMID:11175783 RGD:1598958 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY ClinVar PMID:31448845 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:16754800 PMID:23549607 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25637381 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25326637 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,129,354...8,333,890
Ensembl chr 1:8,310,577...8,333,885
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome
ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
ClinVar Annotator: match by OMIM:300243
OMIM
ClinVar
PMID:10528855 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:28492532 PMID:30311386 PMID:32581362 PMID:32860008 NCBI chr  X:158,979,081...159,045,019
Ensembl chr  X:158,978,755...159,045,044
JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Chronic progressive external ophthalmoplegia ClinVar PMID:10844060 PMID:29887215 NCBI chr 7:49,729,533...49,732,974
Ensembl chr 7:49,729,533...49,732,764
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO 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 PMID:17923349, PMID:11431686, PMID:17420318, PMID:16401742, PMID:12565911, PMID:12975295 RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:21555342 PMID:25741868 PMID:28492532 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar PMID:21646632 PMID:21951382 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:12565915, PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Twnk twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28812649, PMID:11431692 RGD:1600544 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO DNA:missense mutation:CDS:2860C>T (p.R954W) (human)
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 1
ClinVar
OMIM
PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:25741868 PMID:28492532, PMID:14595441 RGD:1600402 NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by OMIM:602078 OMIM
ClinVar
PMID:11600883 NCBI chr 1:166,893,734...166,898,252
Ensembl chr 1:166,893,734...166,898,252
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
ClinVar Annotator: match by OMIM:600638
OMIM
ClinVar
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20829227 PMID:25741868 PMID:30311386 NCBI chr19:56,220,759...56,229,813
Ensembl chr19:56,220,755...56,229,813
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by OMIM:135700
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:25741868 NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col25a1 collagen type XXV alpha 1 chain ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 ClinVar
OMIM
PMID:25500261 NCBI chr 2:235,515,364...235,705,448
Ensembl chr 2:235,596,123...235,715,057
JBrowse link
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col25a1 collagen type XXV alpha 1 chain ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr 2:235,515,364...235,705,448
Ensembl chr 2:235,596,123...235,715,057
JBrowse link
G Kif21a kinesin family member 21A ISO
ISS
ClinVar Annotator: match by term: Congenital fibrosis of the extraocular muscles
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar
MouseDO
NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
JBrowse link
G Phox2a paired-like homeobox 2a ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr 1:166,893,734...166,898,252
Ensembl chr 1:166,893,734...166,898,252
JBrowse link
G Tubb3 tubulin, beta 3 class III ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr19:56,220,759...56,229,813
Ensembl chr19:56,220,755...56,229,813
JBrowse link
congenital nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23301081 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
JBrowse link
G Myo7a myosin VIIA ISO associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human) RGD PMID:21901789 RGD:11537385 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Pax6 paired box 6 ISO DNA:snp:intron:IVS4+5G>C (human) RGD PMID:15629294 RGD:8552281 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
congenital nystagmus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Infantile nystagmus, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:310700
OMIM
ClinVar
CTD
PMID:16020310 PMID:16240070 PMID:17013395 PMID:17768376 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:24513357 PMID:25741868 PMID:25916882 PMID:28492532 NCBI chr  X:138,095,707...138,149,702
Ensembl chr  X:138,098,185...138,148,967
JBrowse link
congenital nystagmus 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked
ClinVar Annotator: match by OMIM:300814
OMIM
ClinVar
PMID:17516023 PMID:18523664 PMID:19390656 PMID:25741868 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities
ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
ClinVar Annotator: match by term: Oculomelic amyoplasia
ClinVar Annotator: match by OMIM:108145
OMIM
ClinVar
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 PMID:23487782 PMID:24726473 PMID:25741868 PMID:27714920 PMID:31680123 PMID:32860008 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
Duane retraction syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Duane's syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO 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 PMID:16402211 PMID:30067223, PMID:12393809, PMID:26791099, PMID:12395297, PMID:16411190, PMID:17216607, PMID:23687435 RGD:11556210, RGD:11532205, RGD:11556232, RGD:11556231, RGD:11556215, RGD:11556211 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
Duane Retraction Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane syndrome type 1 ClinVar PMID:27181683 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
Duane Retraction Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Duane syndrome type 2
ClinVar Annotator: match by term: Duane retraction syndrome 2
ClinVar
OMIM
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 PMID:21555619 PMID:25741868 PMID:28492532 NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
JBrowse link
Duane Retraction Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane syndrome type 3 ClinVar
OMIM
PMID:27181683 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
episodic ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:108500
ClinVar
CTD
OMIM
PMID:8898206 PMID:9329229 PMID:9345107 PMID:9488686 PMID:9600739 PMID:9915947 PMID:10024348 PMID:10371528 PMID:10408532 PMID:10408533 PMID:10734061 PMID:10987655 PMID:11176968 PMID:11179022 PMID:11370629 PMID:11409427 PMID:11439943 PMID:11564488 PMID:11723274 PMID:11809294 PMID:11814735 PMID:11971066 PMID:11985388 PMID:12056940 PMID:12420090 PMID:12756131 PMID:14718690 PMID:15173248 PMID:15240985 PMID:15452324 PMID:15795222 PMID:15985579 PMID:16043807 PMID:16325861 PMID:16866717 PMID:17119788 PMID:17292920 PMID:17588611 PMID:18056581 PMID:18313928 PMID:18354422 PMID:18541804 PMID:18606230 PMID:18644040 PMID:18940563 PMID:19232643 PMID:19486177 PMID:19586927 PMID:19633872 PMID:19811514 PMID:19864665 PMID:20080591 PMID:20097664 PMID:20129625 PMID:20156848 PMID:20301674 PMID:20396531 PMID:20663518 PMID:20682717 PMID:20837964 PMID:21183743 PMID:21703448 PMID:21734179 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22784462 PMID:22969264 PMID:23038654 PMID:23071170 PMID:23183922 PMID:23344743 PMID:23397224 PMID:23831250 PMID:23869231 PMID:23934111 PMID:24033266 PMID:24108129 PMID:24270521 PMID:24420976 PMID:24486772 PMID:24658662 PMID:24664531 PMID:24996492 PMID:25266619 PMID:25274239 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25481746 PMID:25596066 PMID:25735478 PMID:25741868 PMID:25758715 PMID:25851414 PMID:26423924 PMID:26467025 PMID:26633542 PMID:26716990 PMID:26795593 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27250579 PMID:27290639 PMID:27400454 PMID:27476654 PMID:27667184 PMID:27871455 PMID:28007337 PMID:28169007 PMID:28431595 PMID:28444220 PMID:28455667 PMID:28492532 PMID:28540055 PMID:28566750 PMID:28742085 PMID:29056246 PMID:29100083 PMID:29389947 PMID:29482223 PMID:29915382 PMID:29997391 PMID:30142438 PMID:30167989 PMID:30283815 PMID:30311386 PMID:31468518 PMID:31487502 PMID:32238909 PMID:32581362 PMID:97053792, PMID:14530926 RGD:1358446 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
esotropia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:30311386 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 PMID:30311386 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:16450403 PMID:30311386 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:28492532 PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Esotropia ClinVar PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:30311386 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Esodeviation ClinVar PMID:16308660 PMID:21044901 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Esodeviation ClinVar PMID:1899321 PMID:17952075 PMID:17999355 PMID:25741868 PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
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 DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
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 Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar
PMID:15105459 PMID:16525029 PMID:18829051 PMID:19633821 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
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 DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 ClinVar
OMIM
PMID:28250456 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
Foveal Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:28492532 PMID:31696227 NCBI chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:31696227 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:24045842 NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia 2
ClinVar Annotator: match by OMIM:609218
ClinVar Annotator: match by term: Foveal hypoplasia and anterior segment dysgenesis
OMIM
ClinVar
PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by OMIM:212550
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO ClinVar Annotator: match by term: IVIC syndrome
ClinVar Annotator: match by OMIM:147750
OMIM
ClinVar
PMID:17256792 PMID:25741868 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
Joubert syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome 3
DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)
DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)
DNA:nonsense mutation:cds:c.910dup (human)
DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple
DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)
ClinVar Annotator: match by OMIM:608629
ClinVar
OMIM
PMID:15322546 PMID:15467982 PMID:16155189 PMID:16240161 PMID:16453322 PMID:17409309 PMID:18054307 PMID:18414213 PMID:21068128 PMID:21623382 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:23532844 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25445212 PMID:25525159 PMID:25558065 PMID:25616960 PMID:25741868 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:28041643 PMID:28431631 PMID:28442542 PMID:28492532 PMID:32165824, PMID:16155189, PMID:18268248, PMID:21623382, PMID:15322546, PMID:26541515, PMID:16453322, PMID:15467982, PMID:18054307 RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:9054934 PMID:9295268 PMID:9973280 PMID:11017087 PMID:16103129 PMID:18285826 PMID:19074458 PMID:19217903 PMID:20696155 PMID:21786275 PMID:22025579 PMID:22264887 PMID:22312191 PMID:22427542 PMID:22661473 PMID:23769331 PMID:24033266 PMID:24265693 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25640233 PMID:25712131 PMID:25741868 PMID:25921964 PMID:26527198 PMID:26593885 PMID:27535533 PMID:28041643 PMID:28118664 PMID:28181551 PMID:28327576 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29555955 PMID:29847635 PMID:30060493 PMID:30311386 PMID:30718709 PMID:33223529 PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert syndrome 5
ClinVar Annotator: match by OMIM:610188
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, insertion: :multiple
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17617513 PMID:17964524 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23344081 PMID:23351400 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27353947 PMID:27491411 PMID:28041643 PMID:28492532 PMID:28497568 PMID:28829391 PMID:29146704 PMID:29398085 PMID:30311386 PMID:30718709, PMID:17617513, PMID:17409309 RGD:11537352, RGD:7246903 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
Joubert syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert syndrome 6
DNA:missense mutations, splice-site mutations: :multiple
ClinVar Annotator: match by OMIM:610688
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2929661 PMID:8862632 PMID:9375913 PMID:10567047 PMID:12368986 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27457812 PMID:27491411 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28719906 PMID:28973083 PMID:29127258 PMID:29891882 PMID:29974258 PMID:30311386 PMID:31319225, PMID:17160906 RGD:11072184 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Joubert syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar PMID:19936001 PMID:25741868 PMID:28492532 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Joubert syndrome 7
DNA:missense mutations, splice-site mutation:exon, intron:multiple
ClinVar Annotator: match by OMIM:611560
OMIM
ClinVar
PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:21866095 PMID:23188109 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:29343940 PMID:29991045 PMID:30311386, PMID:17960139 RGD:11537350 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sobp sine oculis binding protein homolog ISO ClinVar Annotator: match by term: Mental retardation, anterior maxillary protrusion, and strabismus
ClinVar Annotator: match by OMIM:613671
OMIM
ClinVar
PMID:17618476 PMID:21035105 PMID:25741868 NCBI chr20:47,731,713...47,910,466
Ensembl chr20:47,750,762...47,910,375
JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wieacker Wolff syndrome
ClinVar Annotator: match by term: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
ClinVar Annotator: match by term: Wieacker syndrome
CTD
ClinVar
OMIM
PMID:1915520 PMID:2018061 PMID:4039531 PMID:23623388 PMID:25741868 PMID:26056227 PMID:28814648 PMID:31206972 NCBI chr  X:64,887,978...64,908,682
Ensembl chr  X:64,887,978...64,908,682
JBrowse link
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 PMID:30770808 NCBI chr 2:120,529,716...120,570,356
Ensembl chr 2:120,512,899...120,570,355
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
ClinVar Annotator: match by term: Minicore myopathy
ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
ClinVar Annotator: match by term: Multiminicore myopathy
ClinVar Annotator: match by term: Multiminicore Disease
ClinVar Annotator: match by OMIM:255320
OMIM
ClinVar
PMID:16940 PMID:18253 PMID:1743490 PMID:7299413 PMID:9497245 PMID:10097181 PMID:10484775 PMID:11274444 PMID:11575529 PMID:11668625 PMID:11709545 PMID:11741831 PMID:12059893 PMID:12123492 PMID:12136074 PMID:12208234 PMID:12411786 PMID:12411788 PMID:12434264 PMID:12642598 PMID:12709367 PMID:12719381 PMID:14732627 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15448513 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16244001 PMID:16272262 PMID:16372898 PMID:16380615 PMID:16621918 PMID:16732084 PMID:16835904 PMID:16917943 PMID:16940308 PMID:17033962 PMID:17081152 PMID:17226826 PMID:17365175 PMID:17483490 PMID:17710899 PMID:18171678 PMID:18253926 PMID:18414213 PMID:18564801 PMID:18719443 PMID:19191329 PMID:19191333 PMID:19223216 PMID:19346234 PMID:19513315 PMID:19648156 PMID:19807743 PMID:19825159 PMID:19931341 PMID:20080402 PMID:20142353 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:20981092 PMID:21062345 PMID:21157159 PMID:21455645 PMID:21514828 PMID:21674524 PMID:21795085 PMID:21825032 PMID:21911697 PMID:21965348 PMID:22203976 PMID:22415532 PMID:22473935 PMID:22705209 PMID:22734812 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23035052 PMID:23069638 PMID:23204524 PMID:23329375 PMID:23394784 PMID:23460944 PMID:23476141 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23628358 PMID:23826317 PMID:23919265 PMID:24013571 PMID:24033266 PMID:24055113 PMID:24088041 PMID:24195946 PMID:24215330 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24950660 PMID:24951453 PMID:25084811 PMID:25214167 PMID:25256590 PMID:25326635 PMID:25461839 PMID:25466363 PMID:25476234 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25985138 PMID:25989378 PMID:26332594 PMID:26467025 PMID:26633545 PMID:26841830 PMID:27005958 PMID:27066551 PMID:27147545 PMID:27153395 PMID:27382027 PMID:27555149 PMID:27663056 PMID:27857962 PMID:28224104 PMID:28259615 PMID:28326467 PMID:28357410 PMID:28403410 PMID:28492532 PMID:28527222 PMID:28687594 PMID:28818389 PMID:29169929 PMID:29172004 PMID:29178655 PMID:29382405 PMID:29635721 PMID:30122538 PMID:30155738 PMID:30236257 PMID:30311386 PMID:30325262 PMID:30611313 PMID:30724636 PMID:30788618 PMID:31055738 PMID:31135626 PMID:31680349 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Multiminicore Disease ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 JBrowse link
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11
ClinVar Annotator: match by OMIM:615084
OMIM
ClinVar
PMID:23313956 PMID:25741868 PMID:28492532 PMID:28711739 NCBI chr 3:138,397,925...138,406,672
Ensembl chr 3:138,398,011...138,406,666
JBrowse link
O'Donnell Pappas Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
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 with cataract
ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies
ClinVar Annotator: match by OMIM:136520
OMIM
ClinVar
PMID:8640214 PMID:9727514 PMID:9931324 PMID:10441571 PMID:12868034 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
Oculomotor Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IEP mRNA:increased expression:motor neuron RGD PMID:21456016 RGD:5684341 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313956 NCBI chr 3:138,397,925...138,406,672
Ensembl chr 3:138,398,011...138,406,666
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: External ophthalmoplegia ClinVar NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: External ophthalmoplegia ClinVar PMID:10844060 PMID:29887215 NCBI chr 7:49,729,533...49,732,974
Ensembl chr 7:49,729,533...49,732,764
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:1318289 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
pathologic nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9054934 PMID:11017087 PMID:19265867 PMID:22264887 PMID:28492532 PMID:28559085 PMID:30311386 PMID:30576320 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:30311386 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:17345604 PMID:17564967 PMID:20683928 PMID:21866095 PMID:23188109 PMID:25741868 PMID:25920555 PMID:26092869 PMID:28492532 PMID:28497568 PMID:28829391 PMID:29398085 PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:20717163 PMID:24033266 PMID:27460420 PMID:30311386 NCBI chr 2:149,049,925...149,088,787
Ensembl chr 2:149,049,925...149,088,787
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9662398 PMID:11536077 PMID:17693388 PMID:18445228 PMID:20238023 PMID:23972307 PMID:24033266 PMID:24504161 PMID:25637600 PMID:25741868 PMID:26992781 PMID:28341476 PMID:28492532 PMID:28559085 PMID:30311386 NCBI chr 9:43,807,412...43,858,225
Ensembl chr 9:43,807,677...43,854,396
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Horizontal nystagmus
ClinVar Annotator: match by term: Nystagmus
ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 PMID:14757870 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:17652762 PMID:20079539 PMID:23805033 PMID:24033266 PMID:24148654 PMID:25558176 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28492532 PMID:28795510 PMID:29769798 PMID:30311386 PMID:30718709 PMID:32860008 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Nystagmus ClinVar NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 PMID:26092869 PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus
ClinVar Annotator: match by term: Nystagmus
ClinVar PMID:28492532 PMID:30311386 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:22200994 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28654958 PMID:30311386 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:30311386 NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:17964524 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:30311386 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9005853 PMID:9639450 PMID:10815160 PMID:11292420 PMID:11535458 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12522550 PMID:12872267 PMID:17562996 PMID:17615537 PMID:19023451 PMID:20021252 PMID:22933836 PMID:23304066 PMID:24732711 PMID:25741868 PMID:30311386 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:10655056 PMID:15453866 PMID:15459973 PMID:18294254 PMID:19273793 PMID:19718767 PMID:21217109 PMID:23039133 PMID:23591405 PMID:23989059 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:30311386 NCBI chr 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:11062472 PMID:28492532 PMID:30311386 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:17722006 PMID:21636302 PMID:24970096 PMID:25012220 PMID:25741868 PMID:28492532 PMID:28494813 PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:30311386 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:30311386 NCBI chr 7:3,335,681...3,342,573
Ensembl chr 7:3,335,742...3,342,491
JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:30311386 NCBI chr10:10,761,477...10,766,096
Ensembl chr10:10,761,477...10,766,095
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11283794 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:30311386 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26865513 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:7704033 PMID:25741868 PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Nystagmus
ClinVar Annotator: match by term: Horizontal nystagmus
ClinVar PMID:24033266 PMID:30311386 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 PMID:16177225 PMID:17426723 PMID:17980715 PMID:18500570 PMID:18828154 PMID:19307547 PMID:19478085 PMID:20301791 PMID:20513108 PMID:20818383 PMID:21228000 PMID:21670405 PMID:21880868 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22616202 PMID:23448099 PMID:24272679 PMID:25585994 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12872260 PMID:28812649 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
progressive supranuclear palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:98,707,160...98,823,054
Ensembl chr10:98,706,960...98,823,287
JBrowse link
G Mapt microtubule-associated protein tau onset ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601104
DNA:SNPs, haplotypes::
DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
OMIM
ClinVar
CTD
PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:9811325 PMID:9824291 PMID:9836646 PMID:9973279 PMID:10076890 PMID:10100642 PMID:10100846 PMID:10214944 PMID:10218629 PMID:10219785 PMID:10318930 PMID:10359094 PMID:10360762 PMID:10443890 PMID:10514099 PMID:10561502 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10865093 PMID:10932182 PMID:11013246 PMID:11081811 PMID:11102510 PMID:11115852 PMID:11255441 PMID:11402146 PMID:11598310 PMID:11738505 PMID:11756436 PMID:12325083 PMID:12473404 PMID:12565146 PMID:12756133 PMID:12876142 PMID:12975285 PMID:14595660 PMID:15372253 PMID:15489396 PMID:15904919 PMID:16157753 PMID:16571759 PMID:16818492 PMID:17950702 PMID:18357425 PMID:18803694 PMID:18992292 PMID:19304664 PMID:19458322 PMID:19786698 PMID:20130190 PMID:20561037 PMID:21492964 PMID:21555888 PMID:21685912 PMID:21849646 PMID:22022446 PMID:22127750 PMID:22723997 PMID:23047372 PMID:23659495 PMID:24150109 PMID:24218087 PMID:25004446 PMID:25151619 PMID:25319522 PMID:25402454 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:28492532, PMID:15792962, PMID:16839689, PMID:19879020 RGD:8158100, RGD:8158099, RGD:8158095 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:22424094 RGD:8552652 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr10:105,792,779...105,795,986
Ensembl chr10:105,792,779...105,795,958
JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:72,804,218...72,850,757
Ensembl chr13:72,804,218...72,852,967
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tra2b transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr11:82,373,828...82,392,208
Ensembl chr11:82,373,870...82,392,083
JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule-associated protein tau ISO OMIM NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
proximal myopathy and ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Gas7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:54,010,723...54,240,805
Ensembl chr10:54,126,486...54,236,476
JBrowse link
G Glp2r glucagon-like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:54,260,290...54,323,839
Ensembl chr10:54,260,290...54,323,439
JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,740,841...53,764,610
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,921,077...53,927,553 JBrowse link
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar Annotator: match by term: Inclusion body myopathy 3
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
OMIM
ClinVar
PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 PMID:16130113 PMID:20418530 PMID:22349865 PMID:23388406 PMID:23489661 PMID:24033266 PMID:24193343 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30662633 NCBI chr10:53,711,895...53,738,164
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Myh4 myosin heavy chain 4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,778,456...53,801,605
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Rcvrn recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:54,246,250...54,253,996
Ensembl chr10:54,246,250...54,253,996
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Ataxia with Dysarthria ClinVar PMID:31047799 NCBI chr 3:2,648,787...2,668,770
Ensembl chr 3:2,648,885...2,668,809
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5 ClinVar PMID:16754800 PMID:23549607 PMID:24033266 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25637381 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5
ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by OMIM:607459
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)
OMIM
ClinVar
CTD
PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12565911 PMID:12872260 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25118206 PMID:25281868 PMID:25286830 PMID:25326637 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25713120 PMID:25741868 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26357557 PMID:26467025 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27422324 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28206745 PMID:28284481 PMID:28337550 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28865037 PMID:29029963 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29712893 PMID:29920680 PMID:30021052 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30843307, PMID:22616202, PMID:18585914 RGD:8694285, RGD:8694282 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5
ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar PMID:21276947 PMID:23711981 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:607459
ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15668446 PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
ClinVar
OMIM
PMID:25741868 PMID:27005418 NCBI chr 6:44,225,142...44,322,938
Ensembl chr 6:44,225,233...44,322,938
JBrowse link
strabismus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Squint ClinVar NCBI chr13:98,023,528...98,079,138
Ensembl chr13:98,023,430...98,078,946
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr10:56,271,257...56,276,764
Ensembl chr10:56,271,257...56,276,764
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Congenital strabismus ClinVar PMID:30311386 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:21520333 PMID:28492532 PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Olfm3 olfactomedin 3 ISO ClinVar Annotator: match by term: Susceptibility to strabismus ClinVar NCBI chr 2:217,779,983...218,005,710
Ensembl chr 2:217,963,456...218,005,509
JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr14:2,247,805...2,297,155
Ensembl chr14:2,247,808...2,297,155
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:19862844 PMID:21541725 PMID:28492532 PMID:30311386 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Squint ClinVar PMID:32581362 NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:30311386 NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26865513 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr10:90,250,275...90,265,772
Ensembl chr10:90,250,275...90,265,017
JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr  X:135,005,171...135,041,207
Ensembl chr  X:135,005,123...135,041,027
JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:65,040,032...65,074,857
Ensembl chr  X:65,040,104...65,074,712
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted
ClinVar
OMIM
PMID:25741868 PMID:31206972 NCBI chr  X:64,887,978...64,908,682
Ensembl chr  X:64,887,978...64,908,682
JBrowse link
Zonular Cataract and Nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Zonular cataract and nystagmus ClinVar PMID:25741868 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        ocular motility disease 171
          Athabaskan brainstem dysgenesis syndrome 2
          Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 0
          Christianson syndrome 4
          Diffuse Lewy Body Disease with Gaze Palsy 0
          Duane retraction syndrome + 6
          Joubert syndrome 3 2
          Joubert syndrome 5 3
          Joubert syndrome 6 1
          Joubert syndrome 7 3
          Levator-Medial Rectus Synkinesis 0
          Miller Fisher syndrome 0
          Opsoclonus-Myoclonus Syndrome + 1
          Setting-Sun Phenomenon, Familial Benign 0
          Tolosa-Hunt syndrome + 0
          Tukel Syndrome 0
          congenital fibrosis of the extraocular muscles + 4
          glaucomatous atrophy of optic disc 0
          ophthalmoplegia + 65
          pathologic nystagmus + 46
          strabismus + 54
          third cranial nerve disease + 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            cranial nerve disease 469
              ocular motility disease 171
                Athabaskan brainstem dysgenesis syndrome 2
                Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 0
                Christianson syndrome 4
                Diffuse Lewy Body Disease with Gaze Palsy 0
                Duane retraction syndrome + 6
                Joubert syndrome 3 2
                Joubert syndrome 5 3
                Joubert syndrome 6 1
                Joubert syndrome 7 3
                Levator-Medial Rectus Synkinesis 0
                Miller Fisher syndrome 0
                Opsoclonus-Myoclonus Syndrome + 1
                Setting-Sun Phenomenon, Familial Benign 0
                Tolosa-Hunt syndrome + 0
                Tukel Syndrome 0
                congenital fibrosis of the extraocular muscles + 4
                glaucomatous atrophy of optic disc 0
                ophthalmoplegia + 65
                pathologic nystagmus + 46
                strabismus + 54
                third cranial nerve disease + 2
paths to the root