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



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3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO
ISS
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome
OMIM:258501
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469
JBrowse link
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: 3MC syndrome 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Artn artemin ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:26374271 PMID:29619239 PMID:30006060 PMID:30426380 More... NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alazami-Yuan syndrome
OMIM
CTD
ClinVar
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
JBrowse link
anterior ischemic optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Becn1 beclin 1 IEP protein:decreased expression:retina RGD PMID:21490676 RGD:6483070 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:24316388 RGD:11039419 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4132G>A (human) RGD PMID:17454741 RGD:5490236 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snp:promoter:g.-786T>C (human) RGD PMID:16633797 RGD:7775040 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy
OMIM
CTD
ClinVar
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:601536
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome
DNA:mutations:cds:185delG,175-176insG,76C>T(human)
CTD
MouseDO
ClinVar
OMIM
RGD
PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 More... RGD:11553818 NCBI chr 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome ClinVar NCBI chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044
JBrowse link
Auditory Neuropathy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition OMIM
ClinVar
PMID:6766943 PMID:24033266 PMID:25741868 PMID:28965846 PMID:29040572 More... NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
JBrowse link
autoimmune optic neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain severity ISO RGD PMID:23316360 RGD:27226805 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
OMIM
CTD
ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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 Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ClinVar PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
OMIM
CTD
ClinVar
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 More... NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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 term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ClinVar PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
OMIM
CTD
ClinVar
PMID:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
autosomal recessive congenital nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:35348658 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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 Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 More... NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 OMIM
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
OMIM
CTD
ClinVar
PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
OMIM
CTD
ClinVar
PMID:12655576 PMID:12682338 PMID:15907288 PMID:18819985 PMID:19265691 More... NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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 term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 More... NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
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 OMIM
ClinVar
PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:37013609 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
JBrowse link
Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder OMIM
ClinVar
PMID:25741868 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of
CTD
ClinVar
OMIM
PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
Bell's palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppia peptidylprolyl isomerase A exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:32149981 RGD:150429625 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
JBrowse link
bilateral optic nerve hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10234503 PMID:12634864 PMID:12721955 PMID:18483559 PMID:22692063 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
CTD
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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 syndrome ClinVar NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
JBrowse link
G Foxl2 forkhead box L2 ISO
ISS
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome
OMIM:110100
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 More... RGD:1598958 NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
JBrowse link
Bosch-Boonstra-Schaaf optic atrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arb2a ARB2 cotranscriptional regulator A ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162
JBrowse link
G Kiaa0825 KIAA0825 homolog ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO
ISS
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
OMIM:615722
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More... NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
JBrowse link
G Pou5f2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,907,504...7,908,738 JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... RGD:11576280 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE ClinVar PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
JBrowse link
Carey-Fineman-Ziter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 OMIM
ClinVar
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
JBrowse link
Carey-Fineman-Ziter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymx myomixer, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 OMIM
ClinVar
PMID:35642635 NCBI chr 9:15,397,086...15,398,263
Ensembl chr 9:15,397,144...15,398,263
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 ClinVar PMID:35642635 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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:28492532 PMID:31448845 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
JBrowse link
Cayler Cardiofacial Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 ISS OMIM:270550 MouseDO NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964
JBrowse link
G Sacs sacsin molecular chaperone ISO
ISS
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE
OMIM:270550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863
JBrowse link
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline OMIM
ClinVar
PMID:25741868 PMID:28097321 PMID:31855247 NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909
JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
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 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
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 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO
ISS
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
OMIM:300243
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746
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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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 chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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
RGD
PMID:17923349 PMID:11431686 PMID:17420318 PMID:16401742 PMID:12565911 More... RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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 chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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 PMID:23107649 PMID:24741716 PMID:25741868 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions ClinVar
RGD
PMID:12565915 PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 PMID:14680979 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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
RGD
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 More... RGD:1600544 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction OMIM
ClinVar
PMID:25741868 PMID:29016863 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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 Kif21a kinesin family member 21A ISS
ISO
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL
MouseDO
ClinVar
PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 More... NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
JBrowse link
G Tubb3 tubulin, beta 3 class III ISS
ISO
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
MouseDO
ClinVar
PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
JBrowse link
congenital fibrosis of the 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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition
CTD
ClinVar
OMIM
RGD
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... RGD:1600402 NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
JBrowse link
congenital fibrosis of the 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2
OMIM
CTD
ClinVar
PMID:11600883 PMID:25741868 NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
JBrowse link
congenital fibrosis of the extraocular muscles 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb3 tubulin, beta 3 class III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related condition | ClinVar Annotator: match by term: TUBB3-related tubulinopathy
OMIM
CTD
ClinVar
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 More... NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
JBrowse link
congenital fibrosis of the 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5
OMIM
CTD
ClinVar
PMID:25500261 PMID:25741868 PMID:31875546 NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501
JBrowse link
congenital myopathy 1B 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 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
JBrowse link
G Ryr1 ryanodine receptor 1 susceptibility ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
congenital myopathy 6 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 PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
JBrowse link
G Gas7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,152,718...52,383,283
Ensembl chr10:52,152,493...52,383,276
JBrowse link
G Glp2r glucagon-like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,402,748...52,466,012
Ensembl chr10:52,402,748...52,466,012
JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295
JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951
JBrowse link
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 6 WITH OPHTHALMOPLEGIA | ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr10:51,856,738...51,883,236
Ensembl chr10:51,856,738...51,883,236
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
G Myh4 myosin heavy chain 4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,923,149...51,946,297
Ensembl chr10:51,885,913...51,946,295
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
JBrowse link
G Rcvrn recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,388,706...52,396,454
Ensembl chr10:52,388,706...52,396,453
JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
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:26740942 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:23301081 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Pax6 paired box 6 ISO DNA:snp:intron:IVS4+5G>C (human) RGD PMID:15629294 RGD:8552281 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Congenital nystagmus ClinVar PMID:25741868 PMID:28492532 PMID:35348658 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32971638 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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
ISS
ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked
OMIM:310700
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:16020310 PMID:17013395 PMID:17768376 PMID:17893669 PMID:17962394 More... NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked
OMIM
CTD
ClinVar
PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 More... NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715
JBrowse link
Congenital Nystagmus 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo1 roundabout guidance receptor 1 ISO OMIM NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
JBrowse link
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurog1 neurogenin 1 ISO ClinVar Annotator: match by term: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay ClinVar
OMIM
PMID:25741868 PMID:26077850 PMID:33439489 PMID:36647078 NCBI chr17:8,362,878...8,364,397
Ensembl chr17:8,362,821...8,364,571
JBrowse link
Cranial Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 IEP mRNA:increased expression:superior cervical ganglion RGD PMID:16420416 RGD:2289006 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:15153618 RGD:4891994 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)
ClinVar
CTD
OMIM
RGD
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
OMIM
CTD
ClinVar
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
JBrowse link
dominant optic atrophy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
CTD
ClinVar
OMIM
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO
ISS
DNA:missense mutation:cds:p.R345W (human)
OMIM:126600
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy | ClinVar Annotator: match by term: Malattia leventinese
protein:altered expression: :
MouseDO
CTD
ClinVar
OMIM
RGD
PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 More... RGD:1598888, RGD:10401794, RGD:10401791 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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
ISS
ClinVar Annotator: match by term: Duane retraction syndrome
OMIM:126800 | OMIM:604356
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
JBrowse link
G Mafb MAF bZIP transcription factor B ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:126800 | OMIM:604356
CTD
MouseDO
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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
RGD
PMID:16402211 PMID:30067223 PMID:12393809 PMID:26791099 PMID:12395297 More... RGD:11556210, RGD:11532205, RGD:11556232, RGD:11556231, RGD:11556215, RGD:11556211 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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 retraction syndrome 2 OMIM
ClinVar
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 More... NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
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 retraction syndrome 3 with or without deafness OMIM
ClinVar
PMID:27181683 NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
JBrowse link
episodic ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
JBrowse link
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490
JBrowse link
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339
JBrowse link
G C8h19orf38 similar to human chromosome 19 open reading frame 38 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO
ISS
ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy
OMIM:108500
ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia with nystagmus | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1849839 PMID:8734765 PMID:8898206 PMID:9005860 PMID:9329229 More... RGD:1358446 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
JBrowse link
G Ccdc159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,457,905...20,467,232
Ensembl chr 8:20,457,909...20,466,562
JBrowse link
G Cnn1 calponin 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,632,434...20,641,097
Ensembl chr 8:20,632,338...20,641,098
JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
JBrowse link
G Ecsit ECSIT signaling integrator ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,605,583...20,618,453
Ensembl chr 8:20,605,583...20,618,390
JBrowse link
G Elavl3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641
JBrowse link
G Elof1 elongation factor 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,645,336...20,650,888
Ensembl chr 8:20,645,336...20,650,579
JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
JBrowse link
G Hook2 hook microtubule-tethering protein 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G LOC102546572 zinc finger protein 709-like ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 7:11,846,077...11,868,732
Ensembl chr 7:11,845,560...11,868,717
JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
JBrowse link
G Rab3d RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,438,622...20,449,269
Ensembl chr 8:20,439,294...20,449,185
JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
JBrowse link
G Ralgdsl3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,500,846...20,520,471
Ensembl chr 8:20,500,846...20,520,471
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Spc24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310
JBrowse link
G Swsap1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,486,680...20,489,213
Ensembl chr 8:20,486,678...20,489,211
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,145,264...20,148,233 JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677
JBrowse link
G Tmem205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,452,092...20,458,011
Ensembl chr 8:20,452,092...20,457,828
JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894
JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339
JBrowse link
G Zfp653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,586,607...20,605,439
Ensembl chr 8:20,586,563...20,604,864
JBrowse link
G Zfp709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr16:17,907,599...17,920,047
Ensembl chr16:17,909,641...17,919,700
JBrowse link
G Zfp791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr19:23,018,418...23,033,580
Ensembl chr19:23,018,918...23,033,504
JBrowse link
G Zfp799 zinc finger protein 799 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 7:11,894,224...11,910,809
Ensembl chr 7:11,898,149...11,910,798
JBrowse link
G Zfp866 zinc finger protein 866 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr16:19,653,966...19,675,968
Ensembl chr16:19,668,258...19,675,932
JBrowse link
G Zfp867 zinc finger protein 867 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr10:44,244,813...44,255,223
Ensembl chr10:44,245,880...44,255,395
JBrowse link
G Zfp873 zinc finger protein 873 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 7:7,926,951...7,959,822
Ensembl chr 7:7,926,957...7,951,803
Ensembl chr 7:7,926,957...7,951,803
JBrowse link
G Zfp878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr16:17,856,860...17,887,122
Ensembl chr16:17,856,878...17,868,403
JBrowse link
G Zfp951 zinc finger protein 951 ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr14:5,032,494...5,048,775
Ensembl chr14:5,033,734...5,048,756
JBrowse link
G ZNF69l zinc finger protein 69 like ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 3:138,545,521...138,560,500
Ensembl chr 3:138,544,658...138,557,896
JBrowse link
G Znf709l zinc finger protein 709 like ISO ClinVar Annotator: match by term: Episodic ataxia type 2 ClinVar PMID:28492532 NCBI chr 8:20,710,114...20,721,236
Ensembl chr 8:20,710,461...20,720,246
JBrowse link
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849
JBrowse link
epithelial basement membrane dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epithelial basement membrane dystrophy
OMIM
CTD
ClinVar
PMID:16652336 PMID:19337156 PMID:25525159 PMID:28492532 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link
esotropia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Esotropia ClinVar PMID:25741868 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
JBrowse link
Facial Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcyap1 adenylate cyclase activating polypeptide 1 IEP mRNA:increased expression:facial VII nucleus RGD PMID:19427307 RGD:2325258 NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
JBrowse link
G Atf2 activating transcription factor 2 IEP RGD PMID:9813301 RGD:10047413 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:19922414 RGD:6892922 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Cd59b CD59b molecule IEP mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
JBrowse link
G Csf1 colony stimulating factor 1 IEP protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Ctss cathepsin S ISO RGD PMID:17539023 RGD:5686912 NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
JBrowse link
G Hgf hepatocyte growth factor treatment IDA RGD PMID:21562589 RGD:8548634 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Mt3 metallothionein 3 treatment IDA RGD PMID:14625437 RGD:9685806 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 IEP mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
JBrowse link
G Ret ret proto-oncogene IEP mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
facial paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp9 matrix metallopeptidase 9 ISO associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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 chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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:16772357 PMID:18829051 PMID:19041479 More... NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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 OMIM
ClinVar
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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 chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29385733 NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:31696227 NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:24045842 NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
foveal hypoplasia 1 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 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
foveal hypoplasia 2 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 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16199547 PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 More... NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
JBrowse link
GAPO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAPO syndrome
OMIM
CTD
ClinVar
RGD
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... RGD:9684854 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
JBrowse link
Halperin-Birk Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies OMIM
ClinVar
PMID:25741868 PMID:30464055 NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273
JBrowse link
Hereditary Congenital Facial Paresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeo box B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
JBrowse link
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeo box B1 ISO ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 OMIM
ClinVar
PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 More... NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
JBrowse link
Hereditary Optic Atrophies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO RGD PMID:9722958 RGD:734690 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive optic atrophy ClinVar PMID:10951519 PMID:11328726 PMID:16199547 PMID:25741868 PMID:28492532 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8662757 PMID:11695835 NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10072046 NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic Atrophy, Recessive ClinVar NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628
JBrowse link
Hypoglossal Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1b activin A receptor type 1B IEP RGD PMID:9013782 RGD:151665480 NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
JBrowse link
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 IEP mRNA:increased expression:hypoglossal nerve RGD PMID:11311987 RGD:5037239 NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP RGD PMID:9698327 RGD:704401 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Csnk2b casein kinase 2 beta IEP RGD PMID:11068334 RGD:11565824 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:9183688 RGD:8655640 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP RGD PMID:9183688 RGD:8655640 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP mRNA:increased expression:hypoglossal XII nerve RGD PMID:10407179 RGD:6218979 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
JBrowse link
G Il1r1 interleukin 1 receptor type 1 IEP mRNA:increased expression:hypoglossal nerve RGD PMID:11311987 RGD:5037239 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
JBrowse link
G Mcam melanoma cell adhesion molecule IEP RGD PMID:10076889 RGD:7364787 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
JBrowse link
G Mme membrane metallo-endopeptidase IEP RGD PMID:8201016 RGD:13801045 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha IEP RGD PMID:7769990 RGD:7327191 NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta IEP RGD PMID:7769990 RGD:7327191 NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
JBrowse link
G Ret ret proto-oncogene IEP mRNA:increased expression:hypoglossal XII nerve RGD PMID:10407179 RGD:6218979 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Smad1 SMAD family member 1 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
JBrowse link
G Smad2 SMAD family member 2 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link
G Smad3 SMAD family member 3 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Smad4 SMAD family member 4 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Smad7 SMAD family member 7 IEP mRNA:increased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
JBrowse link
G Smad9 SMAD family member 9 IEP mRNA:decreased expression:hypoglossal nucleus RGD PMID:17166487 RGD:1643227 NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
JBrowse link
G Txnrd1 thioredoxin reductase 1 IEP mRNA, protein:increased expression:neuron RGD PMID:19833109 RGD:5133729 NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 More... NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 More... NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
JBrowse link
INTELLECTUAL DISABILITY, 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus
OMIM
CTD
ClinVar
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541
JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559
JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen ClinVar PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203
JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
CTD Direct Evidence: marker/mechanism
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
OMIM
ClinVar
CTD
RGD
PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... RGD:11553925 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD
ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders
OMIM
CTD
ClinVar
PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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
ISS
DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome 3
OMIM:608629
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD
OMIM
RGD
PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 More... RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO
ISS
ClinVar Annotator: match by term: Joubert syndrome 5
OMIM:610188
CTD Direct Evidence: marker/mechanism
DNA:SNPs:multiple (human)
DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, insertion: :multiple
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:329902080, RGD:329853747, RGD:11537352, RGD:7246903 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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
ISS
ClinVar Annotator: match by term: Joubert syndrome 6
OMIM:610688
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutations: :multiple
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... RGD:11072184 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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 chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Rpgrip1l Rpgrip1-like ISO
ISS
ClinVar Annotator: match by term: Joubert syndrome 7
OMIM:611560
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutation:exon, intron:multiple
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... RGD:11537350 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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
NCBI chr MT:7,919...8,599
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
NCBI chr MT:7,758...7,961
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
NCBI chr MT:8,599...9,382
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
NCBI chr MT:9,451...9,798
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
NCBI chr MT:10,160...11,537
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
NCBI chr MT:9,870...10,166
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
NCBI chr MT:11,736...13,565
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 chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
JBrowse link
Leber hereditary optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18061280 RGD:5685659 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Ephx1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670 PMID:17011878 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility ISO DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.8668T>C, p.W48R (human)
ClinVar
CTD
RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More... RGD:5490293, RGD:5508187 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More... NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7573056 More... NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD
ClinVar
PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 More... NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.3635G>A (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.L289M (m.4171C>A) (human)
DNA:missense mutation:cds:m.3866T>C (p.I187T) (human)
DNA:snps:cds:m.4136A>G, m.4160T>C (human)
DNA:snp:cds:m.3394T>C (human)
DNA:transition:CDS:c.3460G>A, p.A52T (human)
ClinVar
CTD
RGD
PMID:1417830 PMID:1436530 PMID:1442494 PMID:1539598 PMID:1550128 More... RGD:5508685, RGD:8657118, RGD:8657116, RGD:5508712, RGD:5508689, RGD:5508187 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:transversion:CDS:c.4852T>A, p.L128Q (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 PMID:1900003 More... RGD:5508187 NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA: mutation
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar
RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... RGD:5508703 NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:mutation:exon:p.R340H(human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.11778G>A (p.R340H) (human)
DNA:mutation:exon: 11778G>A
DNA:mutation: :m.11696G>A(human)
ClinVar
CTD
RGD
PMID:1346348 PMID:1352537 PMID:1417830 PMID:1436530 PMID:1469456 More... RGD:1581057, RGD:5508187, RGD:5507829, RGD:5491183, RGD:1581059, RGD:1581058 NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO DNA:missense mutation:cds:m.10680G>A (p.A71T) (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)
ClinVar
CTD
RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... RGD:5686339, RGD:5686341 NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
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: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:mutation: :m.13708G>A (human)
DNA:mutation:exon:13042G>A (A236T) (human)
DNA:mutation:exon:p.Y159H(human)
DNA:mutation:: m.12338 T>C
ClinVar
CTD
RGD
PMID:1417830 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 More... RGD:1581060, RGD:5507826, RGD:5491202, RGD:5491183, RGD:5491172 NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO
ISS
DNA:SNP, haplotypes: :m.14484T>C (human)
OMIM:535000
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia
CTD Direct Evidence: marker/mechanism
DNA:mutation: :m.13997G>A (p.P25L) (mouse)
DNA:missense mutations, haplotypes:cds:multiple
DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)
MouseDO
ClinVar
CTD
RGD
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 More... RGD:8657119, RGD:8657127, RGD:8657125, RGD:8657123 NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:25741868 NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) RGD PMID:20407791 PMID:20711738 RGD:12902617, RGD:12902618 NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Leber optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:32516135 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:28492532 NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753 PMID:17011878 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:15293270 PMID:12601034 RGD:8158101, RGD:8158104 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tp53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies ClinVar PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868 NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 OMIM
ClinVar
PMID:25741868 PMID:28031252 NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
JBrowse link
Leber Optic Atrophy, Susceptibility To term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to ClinVar PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to ClinVar PMID:1346348 PMID:1352537 PMID:1417830 PMID:1734726 PMID:1763894 More... NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO OMIM NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
Leber plus disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leber plus disease ClinVar PMID:25741868 NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISS MouseDO NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
low tension glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 susceptibility ISO DNA:polymorphism:cds:p.R389G(human) RGD PMID:16785856 RGD:8548468 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:16778644 RGD:7495800 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:tear: RGD PMID:19861219 RGD:8655604 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cav2 caveolin 2 susceptibility ISO DNA:SNP: :rs1052990 (human) RGD PMID:23743525 RGD:8661774 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
JBrowse link
G Crp C-reactive protein no_association ISO protein:increased expression:plasma: RGD PMID:16148587 PMID:22966842 RGD:9491770, RGD:9491771 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:20858111 RGD:10402863 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Myoc myocilin susceptibility ISO DNA:Haplotype: : RGD PMID:16148883 RGD:7771548 NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
JBrowse link
G Optn optineurin susceptibility ISO
ISS
DNA:SNPs:exon,introns:
DNA:polymorphism:exon:p.M98K(human)
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
MouseDO
RGD
PMID:16148883 PMID:15226658 PMID:15557444 RGD:7771548, RGD:7775043, RGD:7775041 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:28703795 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISS OMIM:606657 MouseDO NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
JBrowse link
G Sod1 superoxide dismutase 1 ISO
ISS
protein:decreased expression:serum (human)
OMIM:606657
MouseDO
RGD
PMID:21421868 RGD:8655579 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association
ISO DNA:polymorphism,haplotype:multiple:
DNA:polymorphisms:multiple:
RGD PMID:22831837 PMID:21921986 RGD:7794768, RGD:7794769 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism, haplotype:promoter: -863C>A (human) RGD PMID:15557444 RGD:7775041 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.R72P(rs1042522)(human) RGD PMID:20357201 RGD:7387247 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
macular retinal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H ISO associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: RGD PMID:16080911 RGD:2315548 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO associated with Diabetic Retinopathy;protein:increased expression:vitreous humor
associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human)
RGD PMID:19118698 PMID:22066978 RGD:2306981, RGD:7829760 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Clu clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Epo erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: RGD PMID:24894397 RGD:10402117 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human) RGD PMID:35799735 RGD:155582223 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Il6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous:
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)
RGD PMID:22066978 PMID:35799735 RGD:7829760, RGD:155582223 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Kdr kinase insert domain receptor ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor RGD PMID:23411880 RGD:8549772 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Mir210 microRNA 210 ISO associated with central retinal vein occlusion;miRNA:increased expression:aqueous humor of eyeball (human) RGD PMID:35799735 RGD:155582223 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) RGD PMID:15333482 RGD:7775044 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human)
associated with Diabetes Mellitus, Experimental; human protein in a rat model
RGD PMID:20714746 PMID:21139695 RGD:8554903, RGD:8655546 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor
CTD
RGD
PMID:20577866 PMID:23411880 PMID:35799735 PMID:17505145 RGD:8549772, RGD:155582223, RGD:8655594 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Melkersson-Rosenthal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-CE16 RT1 class I, locus CE16 ISO protein:increased expression:peripheral blood (human) RGD PMID:32045706 RGD:329961316 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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 ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11
OMIM
CTD
ClinVar
PMID:23313956 PMID:25741868 PMID:28097321 PMID:28492532 PMID:28711739 NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
JBrowse link
mitochondrial DNA depletion syndrome 16B 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: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
JBrowse link
Moebius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Bcdin3d BCDIN3 domain containing RNA methyltransferase ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:28492532 NCBI chr 7:130,605,540...130,610,134
Ensembl chr 7:130,605,541...130,610,115
JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
G Garin4 golgi associated RAB2 interactor family member 4 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr13:102,742,988...102,745,168
Ensembl chr13:102,742,988...102,745,168
JBrowse link
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
JBrowse link
G Hspb7 heat shock protein family B (small) member 7 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 5:153,727,782...153,731,268
Ensembl chr 5:153,727,588...153,731,266
JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr  X:134,258,117...134,325,706
Ensembl chr  X:134,258,125...134,309,617
JBrowse link
G Kbtbd7 kelch repeat and BTB domain containing 7 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr15:54,806,878...54,811,457
Ensembl chr15:54,806,873...54,811,687
JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr10:15,148,698...15,151,581
Ensembl chr10:15,148,681...15,151,581
JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302
JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:25741868 NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:28492532 PMID:28915250 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:2152513 PMID:23778139 PMID:25234154 PMID:25741868 PMID:28492532 NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
JBrowse link
G Zfp787 zinc finger protein 787 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 1:67,745,702...67,771,132
Ensembl chr 1:67,758,757...67,771,132
JBrowse link
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy OMIM
ClinVar
PMID:8967754 PMID:10746566 PMID:10976639 PMID:16199547 PMID:20484225 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
neuromyelitis optica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human)
CTD
RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:18420727 More... RGD:5148024, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask severity IMP RGD PMID:28212662 RGD:13792592
G Cd59b CD59b molecule severity IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Il21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD PMID:21908482 PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD PMID:21748712 PMID:27049564 RGD:5147590, RGD:11530523 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
JBrowse link
non-arteritic anterior ischemic optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme onset ISO DNA:insertion/deletion:intron RGD PMID:21633717 RGD:8548899 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (1691G>A) (human) RGD PMID:15043529 RGD:7394764 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO
CTD
OMIM
ClinVar
PMID:25741868 PMID:28748566 PMID:29232918 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Itgb3 integrin subunit beta 3 susceptibility ISO DNA:polymorphism: : RGD PMID:20162297 RGD:8693343 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :677C>T(human) RGD PMID:20162297 RGD:8693343 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
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 chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
OCULOMOTOR-ABDUCENS SYNKINESIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Oculomotor-abducens synkinesis OMIM
ClinVar
PMID:31211835 NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
JBrowse link
olfactory neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha severity ISO protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
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
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
JBrowse link
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies OMIM
ClinVar
PMID:10844060 PMID:25741868 PMID:29887215 NCBI chr 7:42,802,946...42,806,177
Ensembl chr 7:42,802,946...42,806,177
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 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
optic atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:26539208 PMID:29181157 PMID:32219868 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
JBrowse link
G Cyria CYFIP related Rac1 interactor A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:35,045,208...35,150,669
Ensembl chr 6:35,045,208...35,150,668
JBrowse link
G Ddx1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365
JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:28027978 NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO
ISS
DNA:splice-site mutation, insertion:intron:c.579_580insTT, c.871-1G>T (human)
ClinVar Annotator: match by term: Optic atrophy
OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708
ClinVar
MouseDO
RGD
PMID:11440988 PMID:12036970 PMID:19112530 PMID:19319978 PMID:19969356 More... RGD:7800714 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Rpl24 ribosomal protein L24 ISS OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 MouseDO NCBI chr11:44,653,937...44,659,346
Ensembl chr11:44,653,937...44,659,370
JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
JBrowse link
G Slbp stem-loop histone mRNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906
JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168012 NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutation:cds:p.R456H (rs1801206) (human) RGD PMID:23595122 RGD:8694404 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
optic atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO DNA:nonsense mutation:exon:p.Q285X (mouse)
ClinVar Annotator: match by term: Dominant hereditary optic atrophy | ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron:c.1065+5G>A (mouse)
DNA:mutations:multiple
DNA:duplication:exons, introns:g.194832822_194840568dup (human)
DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple
DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human)
DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple
DNA:SNPs, deletions:exons:multiple
ClinVar
OMIM
CTD
RGD
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 More... RGD:7800686, RGD:7800716, RGD:7800715, RGD:7800709, RGD:7800708, RGD:7800706, RGD:7800704, RGD:7800699 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
optic atrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
JBrowse link
optic atrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yme1l1 YME1-like 1 ATPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy 11
OMIM
CTD
ClinVar
PMID:25741868 PMID:27495975 PMID:28492532 NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335
JBrowse link
optic atrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Optic atrophy 12 OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:26539208 PMID:26633542 PMID:28492532 More... NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Optic atrophy 12 ClinVar PMID:25741868 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
JBrowse link
Optic Atrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ssbp1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities OMIM
ClinVar
PMID:25741868 PMID:31298765 PMID:31550237 PMID:31550240 PMID:36909829 NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135
JBrowse link
Optic Atrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Optic atrophy 14 OMIM
ClinVar
PMID:33632269 NCBI chr 7:111,786,630...111,802,220
Ensembl chr 7:111,786,709...111,802,220
JBrowse link
Optic Atrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcat malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Optic atrophy 15 OMIM
ClinVar
PMID:33918393 NCBI chr 7:114,693,612...114,705,677
Ensembl chr 7:114,693,612...114,704,542
JBrowse link
Optic Atrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Optic atrophy 16 OMIM
ClinVar
PMID:25741868 PMID:27817865 PMID:28492532 PMID:31137067 PMID:32313153 More... NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863
JBrowse link
optic atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Optic atrophy 2 ClinVar NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
optic atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic atrophy 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 More... NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469
JBrowse link
optic atrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Optic atrophy 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15635063 PMID:16199547 PMID:20696759 PMID:25741868 PMID:26604000 More... NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Optic atrophy 5 ClinVar PMID:25741868 NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
JBrowse link
optic atrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem126a transmembrane protein 126A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7
OMIM
CTD
ClinVar
PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 More... NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628
JBrowse link
optic atrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25351951 PMID:25741868 PMID:28492532 PMID:30689204 PMID:32449285 More... NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:25351951 PMID:25741868 PMID:28492532 PMID:32449285 PMID:34056600 NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Optic atrophy 9 ClinVar PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
JBrowse link
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ClinVar PMID:25741868 PMID:30250212 NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
JBrowse link
Optic Nerve Aplasia, Bilateral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Optic nerve aplasia, bilateral ClinVar PMID:12721955 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
optic nerve disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 ISO DNA:SNP:cd: p.G661R (mouse) RGD PMID:36216203 RGD:243065145 NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO associated with Alzheimer Disease;protein:increased expression:optic nerve RGD PMID:19277685 RGD:8695971 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Edn1 endothelin 1 ISO human protein in a rat model RGD PMID:18442442 RGD:8661688 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 More... NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:28027978 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Optic neuropathy ClinVar PMID:28027978 NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Optic nerve disorder ClinVar PMID:20301353 PMID:30143805 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12721955 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Optic nerve glioma ClinVar PMID:25741868 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 onset ISO associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Nf1 neurofibromin 1 susceptibility ISO associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma
ClinVar
RGD
PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 More... RGD:12789442 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system ClinVar PMID:16932809 PMID:22421044 PMID:25741868 PMID:28492532 NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
JBrowse link
Optic Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 IEP protein:decreased expression:retina RGD PMID:22649251 RGD:329347828 NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
JBrowse link
G Adnp activity-dependent neuroprotector homeobox IDA RGD PMID:18414890 RGD:2312783 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
JBrowse link
G Amigo3 adhesion molecule with Ig like domain 3 treatment IEP RGD PMID:23613963 RGD:14390159 NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
JBrowse link
G Aqp4 aquaporin 4 IEP RGD PMID:20216911 RGD:2326035 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Aqp9 aquaporin 9 IEP RGD PMID:20216911 RGD:2326035 NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
JBrowse link
G Arg2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
JBrowse link
G Atf2 activating transcription factor 2 IEP RGD PMID:10366744 RGD:10047417 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA:increased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:decreased expression:optic nerve, retina RGD PMID:24357921 RGD:10054098 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO
IEP
RGD PMID:15140649 PMID:9520478 PMID:11050383 RGD:8655584, RGD:8655637, RGD:8655586 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G C3 complement C3 IEP mRNA:increased expression:optic nerve RGD PMID:14577867 RGD:5129542 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cdk2 cyclin dependent kinase 2 IEP mRNA:increased expression:retina RGD PMID:16723461 RGD:2293567 NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
JBrowse link
G Cfl1 cofilin 1 treatment IDA RGD PMID:27443501 RGD:11568693 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Clu clusterin IEP RGD PMID:14577867 RGD:5129542 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Csf1r colony stimulating factor 1 receptor IEP mRNA:increased expression:retina (rat) RGD PMID:20187850 RGD:151665810 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:20144610 RGD:11039471 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Ctsb cathepsin B IEP protein:increased expression:retina (rat) RGD PMID:18775855 RGD:2315508 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Ednra endothelin receptor type A IEP mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Ednrb endothelin receptor type B IEP mRNA:increased expression:retina RGD PMID:18600494 RGD:4892579 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Ep300 E1A binding protein p300 IEP
ISO
protein:decreased expression:retinal ganglion cell layer (rat)
human gene in rat model
RGD PMID:21705428 PMID:21705428 RGD:7349392, RGD:7349392 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:14664816 RGD:8554854 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase IEP mRNA:increased expression:retina RGD PMID:33664770 RGD:329951020 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Gdnf glial cell derived neurotrophic factor IEP RGD PMID:15144875 RGD:6218970 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP RGD PMID:15144875 RGD:6218970 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
JBrowse link
G Gfra2 GDNF family receptor alpha 2 IEP RGD PMID:15144875 RGD:6218970 NCBI chr15:45,941,841...46,033,715
Ensembl chr15:45,941,828...46,033,714
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:21443522 RGD:8548549 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IMP
IEP
protein: altered activity: eye
protein:increased expression:retina:
RGD PMID:19484445 PMID:23648097 RGD:5686431, RGD:10046025 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:10366744 RGD:10047417 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP RGD PMID:20216911 RGD:2326035 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO mRNA:increased expression:retina RGD PMID:12076086 RGD:8662362 NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Myrf myelin regulatory factor IEP mRNA:decreased expression: oligodendrocyte RGD PMID:29915135 RGD:213230153 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase treatment IMP RGD PMID:28032230 RGD:13781885 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO RGD PMID:18757519 RGD:2326023 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Nefm neurofilament medium chain IEP RGD PMID:8501527 RGD:9743936 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
JBrowse link
G Neo1 neogenin 1 IEP protein:increased expression:retina RGD PMID:21887516 RGD:9850142 NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
JBrowse link
G Ngf nerve growth factor IEP protein:increased expression:retina RGD PMID:28067793 RGD:402463954 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Ngfr nerve growth factor receptor IDA RGD PMID:20943663 RGD:5508695 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IDA RGD PMID:20943663 RGD:5508695 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IDA RGD PMID:20357199 RGD:5684908 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G Pawr pro-apoptotic WT1 regulator IEP mRNA:increased expression:retina: RGD PMID:12836167 RGD:1299297 NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028
JBrowse link
G Pax6 paired box 6 IEP protein:increased expression:retina (rat) RGD PMID:23297010 RGD:8552379 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP protein:decreased expression:nerve fiber: RGD PMID:9893812 RGD:10449496 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 IEP protein:increased expression:optic nerve (rat) RGD PMID:22336118 RGD:6767293 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Plau plasminogen activator, urokinase IEP mRNA:increased expression:optic nerve (rat) RGD PMID:20798533 RGD:6483802 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 IEP protein:increased expression:retina (rat) RGD PMID:15555919 RGD:9835027 NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882
JBrowse link
G Rhoa ras homolog family member A IEP protein:increased expression, altered localization:retina RGD PMID:17534117 RGD:1642826 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Snw1 SNW domain containing 1 IEP protein:increased expression:retina (rat) RGD PMID:25074585 RGD:11035254 NCBI chr 6:107,095,450...107,119,536
Ensembl chr 6:107,095,457...107,119,536
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:optic nerve RGD PMID:23103505 RGD:7794777 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A IEP
ISO
RGD PMID:18552980 PMID:14697498 RGD:7794683, RGD:8661743 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tradd TNFRSF1A-associated via death domain IEP protein:increased expression: retina RGD PMID:18552980 RGD:7794683 NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638
JBrowse link
G Ybx3 Y box binding protein 3 IEP mRNA:increased expression:retinal ganglion cell RGD PMID:11750989 RGD:2311250 NCBI chr 4:165,129,747...165,153,101
Ensembl chr 4:165,129,758...165,153,161
JBrowse link
optic neuritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 disease_progression ISO RGD PMID:23024849 PMID:22157536 RGD:8696036, RGD:9685553 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Capn1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23860028 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
JBrowse link
G Cat catalase treatment ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:18055782 RGD:9068881 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:11966770 RGD:8551840 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve RGD PMID:20151287 RGD:5686855 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion, haplotype:cds (human) RGD PMID:19286687 RGD:5148007 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:cds (human) RGD PMID:19286687 RGD:5148007 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO
IDA
RGD PMID:22157536 PMID:23860028 RGD:9685553, RGD:9685554 NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474
JBrowse link
G Nefh neurofilament heavy chain severity ISO protein:increased expression:serum: RGD PMID:29085182 PMID:15258226 RGD:27226813, RGD:27226814 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:9006417 RGD:7483596 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:22167100 RGD:7365050 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with Encephalomyelitis, Autoimmune, Experimental; RGD PMID:17251466 PMID:17251466 RGD:8158052, RGD:8158052 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
pathologic nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:10888875 PMID:10958649 PMID:15657609 PMID:15712225 PMID:17652762 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25558065 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:15965158 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 More... NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:17964524 PMID:25741868 PMID:28492532 PMID:33546218 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:17896311 PMID:18235024 PMID:18400204 PMID:21882291 PMID:21911584 More... NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:18327255 PMID:25741868 PMID:28492532 PMID:28497568 PMID:34008892 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11283794 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Nystagmus ClinVar NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus ClinVar PMID:7704033 PMID:7955413 PMID:9163730 PMID:13680365 PMID:15381243 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome ClinVar PMID:25741868 PMID:26917597 PMID:28492532 NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PEHO syndrome
OMIM
CTD
ClinVar
PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475
Ensembl chr10:69,748,789...69,790,475
JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar PMID:25741868 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
OMIM
CTD
ClinVar
PMID:25741868 PMID:27666369 PMID:28492532 PMID:34134906 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
CTD
ClinVar
PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12707443 PMID:12872260 PMID:18575922 PMID:18973250 PMID:19084593 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
JBrowse link
G Mapt microtubule-associated protein tau onset ISO DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes::
OMIM
ClinVar
CTD
RGD
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... RGD:8158095, RGD:8158100, RGD:8158099 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:22424094 RGD:8552652 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tra2b transformer 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr11:78,788,880...78,807,252
Ensembl chr11:78,788,884...78,807,249
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical
CTD
OMIM
ClinVar
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More... NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
JBrowse link
Roifman-Chitayat Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic
OMIM
CTD
ClinVar
PMID:19863561 PMID:29180244 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 More... NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
JBrowse link
Senior-Loken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
G Nphp1 nephrocystin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis
ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
CTD
ClinVar
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
JBrowse link
G Tmem218 transmembrane protein 218 ISS OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Renal-retinal syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human)
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome
ClinVar
RGD
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 More... RGD:11552600 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
Senior-Loken Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 1 OMIM
ClinVar
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
Senior-Loken Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 5
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations:exon:multiple
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More... RGD:11537383 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
Senior-Loken Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss2 adenylosuccinate synthase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 More... NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Catspere catsper channel auxiliary subunit epsilon ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,799,669...89,954,723
Ensembl chr13:89,819,244...89,950,979
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:22190896 PMID:28492532 NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
JBrowse link
G Cox20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:90,065,900...90,075,386 JBrowse link
G Desi2 desumoylating isopeptidase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,961,767...90,011,255
Ensembl chr13:89,961,934...90,016,416
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:28492532 NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 More... NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
JBrowse link
G Spmip3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817
JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
JBrowse link
Senior-Loken Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 8 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
Senior-Loken Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 9 OMIM
ClinVar
PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)
OMIM
ClinVar
CTD
RGD
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... RGD:8694285, RGD:8694282 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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 Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824
JBrowse link
G Twnk twinkle mtDNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CTD
ClinVar
PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: NBAS-related condition | ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20577004 PMID:24033266 More... NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984
JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
RGD
PMID:25741868 PMID:22022284 RGD:11532672 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More... NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More... NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944
JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 More... NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
JBrowse link
G Exosc8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:138,930,405...138,937,009
Ensembl chr 2:138,930,405...138,936,928
JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:32576985 More... NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:32707086 PMID:33970200 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538
JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More... NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048
JBrowse link
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25044680 PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196 NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 More... NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223
JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12955714 PMID:15605410 PMID:17603484 PMID:18060660 PMID:20301750 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 1
OMIM
CTD
ClinVar
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
JBrowse link
Spastic Ataxia 10, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26185144 PMID:28492532 More... NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,383,450...55,401,838
Ensembl chr10:55,383,450...55,401,558
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530
JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,401,989...55,414,364
Ensembl chr10:55,401,982...55,414,114
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17273843 PMID:17576681 PMID:24319291 PMID:24482476 More... NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410
JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,377,249...55,383,404
Ensembl chr10:55,377,249...55,383,404
JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 3
OMIM
CTD
ClinVar
PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:24033266 PMID:24180463 PMID:25741868 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4
OMIM
CTD
ClinVar
PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 More... NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538
JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22022284 PMID:25401298 PMID:25741868 PMID:26454370 PMID:26467025 More... NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Spastic ataxia 5 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28575651 PMID:30285346 PMID:31509304 More... NCBI chr 1:194,380,149...194,383,533
Ensembl chr 1:194,381,975...194,383,515
JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chp1 calcineurin-like EF-hand protein 1 ISO OMIM NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251
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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 More... NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256
JBrowse link
Spinocerebellar Ataxia 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 27A
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 More... NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
Spinocerebellar Ataxia 27B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO OMIM NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
spinocerebellar ataxia type 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf14 fibroblast growth factor 14 ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
OMIM:193003
CTD
ClinVar
MouseDO
PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 More... NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:25741868 NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
JBrowse link
SPOAN syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klc2 kinesin light chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPOAN syndrome
OMIM
CTD
ClinVar
PMID:24482476 PMID:25741868 PMID:26385635 PMID:28492532 NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
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: Strabismus ClinVar NCBI chr13:91,481,936...91,536,391
Ensembl chr13:91,481,936...91,536,391
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:21520333 PMID:23656349 PMID:25741868 PMID:28492532 PMID:29089047 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Olfm3 olfactomedin 3 ISO ClinVar Annotator: match by term: Strabismus, susceptibility to ClinVar NCBI chr 2:202,729,610...202,952,120
Ensembl chr 2:202,729,936...202,952,112
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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:25741868 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
JBrowse link
Trigeminal Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IEP RGD PMID:22977862 RGD:8547771 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
trigeminal neuralgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
JBrowse link
G Cdk5 cyclin-dependent kinase 5 IDA RGD PMID:21161138 RGD:13782378 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 IEP RGD PMID:21161138 RGD:13782378 NCBI chr10:65,484,266...65,485,467
Ensembl chr10:65,483,941...65,488,456
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma 1 ISS OMIM:190400 MouseDO NCBI chr14:37,396,217...37,469,606
Ensembl chr14:37,396,294...37,635,956
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
JBrowse link
G Mir125a microRNA 125a IEP RNA:decreased expression: trigeminal ganglion: RGD PMID:25380251 RGD:26884456 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
JBrowse link
G Prkcg protein kinase C, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
vestibular neuronitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:14636287 RGD:9491594 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Ascc2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,503,449...79,547,801
Ensembl chr14:79,503,517...79,545,494
JBrowse link
G C14H22orf31 chromosome 14 C22orf31 homolog ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...
G Cabp7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,598,822...79,609,172
Ensembl chr14:79,598,827...79,609,240
JBrowse link
G Ccdc117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:80,399,236...80,409,824
Ensembl chr14:80,400,294...80,409,659
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Emid1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:80,000,486...80,043,561
Ensembl chr14:80,000,486...80,043,620
JBrowse link
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
JBrowse link
G Gas2l1 growth arrest-specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,955,350...79,961,830
Ensembl chr14:79,950,555...79,961,438
JBrowse link
G Hscb HscB mitochondrial iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
JBrowse link
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516
JBrowse link
G Mtmr3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,340,523...79,460,947
Ensembl chr14:79,340,513...79,461,041
JBrowse link
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO
ISS
ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM:101000
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 More... RGD:151708708, RGD:151708704 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Nipsnap1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,734,234...79,758,101
Ensembl chr14:79,734,209...79,758,098
JBrowse link
G Rasl10a RAS-like, family 10, member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,955,093...79,956,471
Ensembl chr14:79,954,398...79,956,468
JBrowse link
G Rhbdd3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,994,111...80,000,294
Ensembl chr14:79,994,158...80,000,175
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
G Thoc5 THO complex subunit 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,758,805...79,792,718
Ensembl chr14:79,758,917...79,792,718
JBrowse link
G Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,566,151...79,569,017
Ensembl chr14:79,566,157...79,569,003
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:20406973 PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
JBrowse link
G Zmat5 zinc finger, matrin type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,568,644...79,599,595
Ensembl chr14:79,568,758...79,599,594
JBrowse link
G Znrf3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:80,157,854...80,313,456
Ensembl chr14:80,160,278...80,313,485
JBrowse link
Vestibulocochlear Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 IEP mRNA:increased expression:Vestibulocochlear nerve: RGD PMID:22178544 RGD:8548530 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
CTD
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
CTD
ClinVar
PMID:28492532 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 OMIM
ClinVar
PMID:8249951 PMID:9536098 PMID:15216543 PMID:15696165 PMID:16199547 More... NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome 2 OMIM
ClinVar
PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO
ISS
OMIM:614222
ClinVar Annotator: match by term: Warburg micro syndrome 3
OMIM
MouseDO
ClinVar
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO
ISS
OMIM:615663
ClinVar Annotator: match by term: Warburg micro syndrome 4
OMIM
MouseDO
ClinVar
PMID:24239381 PMID:25741868 PMID:32740904 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar
PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... RGD:1599813 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO
ISS
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM:222300
OMIM
ClinVar
MouseDO
PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045603, RGD:10045601 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179
JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
OMIM
CTD
ClinVar
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbmx RNA binding motif protein, X-linked ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        peripheral nervous system disease 4086
          neuropathy 3871
            cranial nerve disease 663
              CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY 1
              Cranial Nerve Injuries + 81
              Cranial Nerve Neoplasms + 4
              Cranial Nerves, Congenital Paresis of 0
              Cranial Nerves, Recurrent Paresis of 0
              OCULOMOTOR-ABDUCENS SYNKINESIS 1
              Ophthalmoplegic Migraine 0
              Vagus nerve disease + 11
              cranial nerve palsy + 0
              facial nerve disease + 55
              glossopharyngeal nerve disease + 32
              hypoglossal nerve disease + 20
              jaw-winking syndrome 0
              ocular motility disease + 224
              olfactory nerve disease + 1
              optic nerve disease + 369
              third cranial nerve disease + 2
              trigeminal nerve disease + 17
              trochlear nerve disease + 0
              vestibulocochlear nerve disease + 39
paths to the root