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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:vestibular disease
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Accession:DOID:3426 term browser browse the term
Definition:An inner ear disease that is located in the vestibular system. (DO)
Synonyms:exact_synonym: vertigo, vestibular disorder;   vestibular diseases
 primary_id: MESH:D015837
 xref: ICD10CM:H81.9
For additional species annotation, visit the Alliance of Genome Resources.


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vestibular disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21269433 NCBI chrNW_004955435:19,537,224...19,563,631
Ensembl chrNW_004955435:19,536,634...19,564,580
JBrowse link
G Espn espin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10975527 PMID:15286153 RGD:734943 NCBI chrNW_004955486:6,130,190...6,156,859 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chrNW_004955438:1,218,990...1,231,407
Ensembl chrNW_004955438:1,219,018...1,231,287
JBrowse link
G Kcna10 potassium voltage-gated channel subfamily A member 10 ISO MouseDO NCBI chrNW_004955435:13,983,831...13,985,366
Ensembl chrNW_004955435:13,983,831...13,985,366
JBrowse link
G Myo7a myosin VIIA ISO DNA:mutations:cds:multiple (mouse) RGD PMID:9680294 RGD:4892285 NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Oc90 otoconin 90 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21269433 NCBI chrNW_004955461:6,697,930...6,729,764
Ensembl chrNW_004955461:6,697,936...6,723,172
JBrowse link
G Srrm4 serine/arginine repetitive matrix 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17613114 NCBI chrNW_004955455:12,318,529...12,473,420
Ensembl chrNW_004955455:12,318,529...12,473,647
JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct ClinVar PMID:1283148 PMID:1695717 PMID:1757966 PMID:2210769 PMID:2236053 More... NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 OMIM
ClinVar
PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 More... NCBI chrNW_004955408:23,074,876...23,078,766
Ensembl chrNW_004955408:23,074,850...23,078,815
JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 OMIM
ClinVar
PMID:19289823 PMID:19426954 PMID:20807765 PMID:23869231 PMID:23918157 More... NCBI chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 OMIM
ClinVar
PMID:8285825 PMID:8541853 PMID:8630498 PMID:9070918 PMID:9398842 More... NCBI chrNW_004955410:12,008,067...12,057,147
Ensembl chrNW_004955410:12,009,102...12,059,637
JBrowse link
Bilateral Vestibulopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chrNW_004955443:7,969,117...8,051,734
Ensembl chrNW_004955443:7,983,840...8,051,089
JBrowse link
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf2 E74 like ETS transcription factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chrNW_004955428:4,458,962...4,550,783
Ensembl chrNW_004955428:4,479,913...4,550,783
JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM
ClinVar
PMID:25741868 NCBI chrNW_004955443:7,969,117...8,051,734
Ensembl chrNW_004955443:7,983,840...8,051,089
JBrowse link
enlarged vestibular aqueduct term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO OMIM:600791 MouseDO NCBI chrNW_004955424:14,256,096...14,281,572
Ensembl chrNW_004955424:14,256,096...14,282,410
JBrowse link
Kabuki syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm6a lysine demethylase 6A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955516:3,151,350...3,346,832
Ensembl chrNW_004955516:3,149,948...3,346,832
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome ClinVar PMID:3067577 PMID:9285441 PMID:9536098 PMID:12482968 PMID:14608645 More... NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
JBrowse link
Kabuki Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts3 ADAM metallopeptidase with thrombospondin type 1 motif 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:803,287...1,036,435
Ensembl chrNW_004955447:803,057...1,036,485
JBrowse link
G Alb albumin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955442:12,476,055...12,487,613 JBrowse link
G Ambn ameloblastin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,363,240...2,374,827
Ensembl chrNW_004955447:2,363,240...2,374,827
JBrowse link
G Amtn amelotin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,422,189...2,433,633
Ensembl chrNW_004955447:2,423,136...2,433,150
JBrowse link
G Ankrd17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:259,654...376,147
Ensembl chrNW_004955447:259,655...376,147
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:4,212,729...4,345,611
Ensembl chrNW_004955433:4,212,729...4,345,066
JBrowse link
G Anxa3 annexin A3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:2,981,113...3,043,894
Ensembl chrNW_004955433:2,977,513...3,044,446
JBrowse link
G Areg amphiregulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:680,212...689,021
Ensembl chrNW_004955474:680,204...689,088
JBrowse link
G Art3 ADP-ribosyltransferase 3 (inactive) ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:743,631...850,612
Ensembl chrNW_004955433:810,703...853,589
JBrowse link
G Bmp2k BMP2 inducible kinase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:3,207,512...3,327,688
Ensembl chrNW_004955433:3,207,512...3,327,688
JBrowse link
G Bmp3 bone morphogenetic protein 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:5,194,312...5,246,125
Ensembl chrNW_004955433:5,211,592...5,246,194
JBrowse link
G Btc betacellulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:895,573...946,152
Ensembl chrNW_004955474:895,573...946,894
JBrowse link
G Cabs1 calcium binding protein, spermatid associated 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,581,173...2,582,481 JBrowse link
G Ccdc158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:1,040,193...1,120,585
Ensembl chrNW_004955433:1,042,049...1,116,349
JBrowse link
G Ccng2 cyclin G2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:1,799,405...1,807,050
Ensembl chrNW_004955433:1,798,732...1,807,827
JBrowse link
G Ccni cyclin I ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:1,698,568...1,735,196
Ensembl chrNW_004955433:1,698,568...1,735,196
JBrowse link
G Cdkl2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:1,514,566...1,550,120
Ensembl chrNW_004955474:1,513,391...1,550,385
JBrowse link
G Cfap299 cilia and flagella associated protein 299 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:4,581,581...5,158,019
Ensembl chrNW_004955433:4,581,620...5,157,884
JBrowse link
G Cnot6l CCR4-NOT transcription complex subunit 6 like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:2,206,462...2,290,773
Ensembl chrNW_004955433:2,213,444...2,316,049
JBrowse link
G Csn1s1 casein alpha s1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,908,095...2,928,444 JBrowse link
G Csn2 casein beta ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,868,899...2,889,969 JBrowse link
G Csn3 casein kappa ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,616,337...2,623,845 JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:769,449...771,137
Ensembl chrNW_004955433:766,272...771,231
JBrowse link
G Cxcl13 C-X-C motif chemokine ligand 13 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:2,123,190...2,129,119 JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
JBrowse link
G Dck deoxycytidine kinase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,031,851...2,067,005
Ensembl chrNW_004955447:2,031,258...2,067,210
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chrNW_004955422:28,380,595...28,427,012
Ensembl chrNW_004955422:28,380,591...28,421,301
JBrowse link
G Enam enamelin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,331,251...2,345,459
Ensembl chrNW_004955447:2,331,251...2,346,110
JBrowse link
G Enoph1 enolase-phosphatase 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:6,522,663...6,549,352
Ensembl chrNW_004955433:6,522,663...6,549,352
JBrowse link
G Epgn epithelial mitogen ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:564,329...573,014
Ensembl chrNW_004955474:564,329...573,014
JBrowse link
G Ereg epiregulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:612,440...627,606
Ensembl chrNW_004955474:612,440...627,606
JBrowse link
G Fgf5 fibroblast growth factor 5 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:4,521,566...4,540,672
Ensembl chrNW_004955433:4,521,112...4,542,061
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495
JBrowse link
G G3bp2 G3BP stress granule assembly factor 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:1,565,048...1,632,427
Ensembl chrNW_004955474:1,562,163...1,632,449
JBrowse link
G Gc GC vitamin D binding protein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:1,361,698...1,400,633
Ensembl chrNW_004955447:1,361,566...1,402,491
JBrowse link
G Gk2 glycerol kinase 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:3,736,428...3,738,360 JBrowse link
G Grsf1 G-rich RNA sequence binding factor 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,181,841...2,194,650
Ensembl chrNW_004955447:2,181,839...2,194,650
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
JBrowse link
G Hnrnpd heterogeneous nuclear ribonucleoprotein D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:6,452,931...6,470,209
Ensembl chrNW_004955433:6,454,454...6,469,904
JBrowse link
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:6,515,509...6,522,081
Ensembl chrNW_004955433:6,512,399...6,522,377
JBrowse link
G Jchain joining chain of multimeric IgA and IgM ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,292,387...2,321,596
Ensembl chrNW_004955447:2,313,808...2,321,663
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:11261516 PMID:19370762 PMID:24728327 PMID:25398587 PMID:25741868 More... NCBI chrNW_004955516:3,151,350...3,346,832
Ensembl chrNW_004955516:3,149,948...3,346,832
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chrNW_004955468:2,813,183...2,834,326
Ensembl chrNW_004955468:2,813,496...2,834,326
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20711175 PMID:21280141 More... NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
JBrowse link
G LOC102025739 mitochondrial inner membrane protein COX18 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:382,631...390,399
Ensembl chrNW_004955447:382,679...390,037
JBrowse link
G Map1b microtubule associated protein 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955575:914,607...1,020,971
Ensembl chrNW_004955575:913,723...1,021,028
JBrowse link
G Mob1b MOB kinase activator 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,077,768...2,141,373
Ensembl chrNW_004955447:2,077,768...2,092,361
JBrowse link
G Mrpl1 mitochondrial ribosomal protein L1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:2,327,830...2,436,198
Ensembl chrNW_004955433:2,353,844...2,437,743
JBrowse link
G Mthfd2l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:450,676...558,659
Ensembl chrNW_004955474:450,680...558,716
JBrowse link
G Muc7 mucin 7, secreted ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,511,841...2,520,312 JBrowse link
G Naa11 N-alpha-acetyltransferase 11, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:3,653,046...3,662,924
Ensembl chrNW_004955433:3,662,098...3,662,787
JBrowse link
G Naaa N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:630,627...674,675
Ensembl chrNW_004955433:630,483...674,675
JBrowse link
G Npffr2 neuropeptide FF receptor 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:1,112,856...1,205,051
Ensembl chrNW_004955447:1,112,854...1,205,322
JBrowse link
G Nup54 nucleoporin 54 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:853,921...879,861 JBrowse link
G Odam odontogenic, ameloblast associated ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,653,815...2,661,043
Ensembl chrNW_004955447:2,653,815...2,661,043
JBrowse link
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:1,502,798...1,509,307
Ensembl chrNW_004955474:1,502,791...1,509,294
JBrowse link
G Paqr3 progestin and adipoQ receptor family member 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:3,323,426...3,350,358
Ensembl chrNW_004955433:3,321,625...3,350,588
JBrowse link
G Parm1 prostate androgen-regulated mucin-like protein 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:1,065,758...1,144,460
Ensembl chrNW_004955474:1,067,230...1,141,056
JBrowse link
G Ppef2 protein phosphatase with EF-hand domain 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:1,758,988...1,770,427 JBrowse link
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:4,443,339...4,463,687
Ensembl chrNW_004955433:4,459,669...4,462,928
JBrowse link
G Prkg2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:5,286,594...5,387,571
Ensembl chrNW_004955433:5,286,153...5,491,924
JBrowse link
G Rasgef1b RasGEF domain family member 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:5,605,548...6,388,880
Ensembl chrNW_004955433:5,605,548...6,176,875
JBrowse link
G Rassf6 Ras association domain family member 6 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955657:49,115...59,237
Ensembl chrNW_004955657:49,115...59,237
JBrowse link
G Rchy1 ring finger and CHY zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:1,463,817...1,475,677
Ensembl chrNW_004955474:1,463,817...1,475,690
JBrowse link
G Rufy3 RUN and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,200,788...2,266,008
Ensembl chrNW_004955447:2,211,262...2,266,008
JBrowse link
G Scarb2 scavenger receptor class B member 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:884,740...962,932
Ensembl chrNW_004955433:884,740...962,932
JBrowse link
G Scd5 stearoyl-CoA desaturase 5 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:6,700,616...6,819,782
Ensembl chrNW_004955433:6,700,555...6,818,147
JBrowse link
G Sdad1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:690,305...717,737
Ensembl chrNW_004955433:689,577...717,737
JBrowse link
G Septin11 septin 11 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:1,606,246...1,691,819
Ensembl chrNW_004955433:1,606,261...1,691,812
JBrowse link
G Shroom3 shroom family member 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:1,135,589...1,423,449
Ensembl chrNW_004955433:1,358,444...1,422,498
JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:1,599,986...1,900,791
Ensembl chrNW_004955447:1,599,929...1,900,791
JBrowse link
G Sowahb sosondowah ankyrin repeat domain family member B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:1,537,658...1,541,574
Ensembl chrNW_004955433:1,539,001...1,541,370
JBrowse link
G Stbd1 starch binding domain 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:1,036,265...1,038,652 JBrowse link
G Thap6 THAP domain containing 6 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:1,481,669...1,491,904
Ensembl chrNW_004955474:1,481,495...1,491,441
JBrowse link
G Tmem150c transmembrane protein 150C ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955433:6,560,628...6,628,525
Ensembl chrNW_004955433:6,560,628...6,628,525
JBrowse link
G Uso1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955474:1,647,670...1,704,869
Ensembl chrNW_004955474:1,647,361...1,705,548
JBrowse link
G Utp3 UTP3 small subunit processome component ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:2,290,916...2,292,419
Ensembl chrNW_004955447:2,290,981...2,292,405
JBrowse link
G Ythdc1 YTH domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955447:4,474,920...4,505,359
Ensembl chrNW_004955447:4,476,004...4,504,913
JBrowse link
G Zbtb24 zinc finger and BTB domain containing 24 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chrNW_004955411:34,502,355...34,521,196
Ensembl chrNW_004955411:34,503,812...34,521,196
JBrowse link
Kabuki Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst7 carbohydrate sulfotransferase 7 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:1,435,972...1,466,249
Ensembl chrNW_004955516:1,461,789...1,466,249
JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:3,041,112...3,081,740
Ensembl chrNW_004955516:3,041,092...3,083,491
JBrowse link
G Dusp21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:3,369,548...3,370,403 JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:3,867,542...4,036,049
Ensembl chrNW_004955516:3,867,535...4,036,293
JBrowse link
G Fundc1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:3,648,629...3,664,032
Ensembl chrNW_004955516:3,648,629...3,664,032
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:11261516 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955516:3,151,350...3,346,832
Ensembl chrNW_004955516:3,149,948...3,346,832
JBrowse link
G Krbox4 KRAB box domain containing 4 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:1,506,348...1,522,765 JBrowse link
G Maoa amine oxidase [flavin-containing] A ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:4,218,703...4,244,774
Ensembl chrNW_004955516:4,218,703...4,244,846
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:1,160,148...1,193,540 JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004955516:1,286,070...1,428,789
Ensembl chrNW_004955516:1,286,070...1,428,789
JBrowse link
Meniere's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955418:20,603,323...21,039,891 JBrowse link
G Aqp4 aquaporin 4 susceptibility ISO protein:decreased expression:macula of utricle of membranous labyrinth:
DNA:conservative mutation:cds:c.105G>C(human)
RGD PMID:20461409 PMID:21063116 RGD:8696022 RGD:8696023 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955437:19,767,395...19,772,447
Ensembl chrNW_004955437:19,767,395...19,772,447
JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 PMID:25741868 PMID:28492532 NCBI chrNW_004955402:21,414,122...21,676,389
Ensembl chrNW_004955402:21,315,889...21,673,044
JBrowse link
G Fam136a family with sequence similarity 136 member A ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 NCBI chrNW_004955424:14,837,264...14,841,354 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) RGD PMID:23484733 RGD:7387223 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:15221449 PMID:16470552 PMID:20146813 PMID:21487335 PMID:22135276 More... NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955414:32,353,896...32,435,097
Ensembl chrNW_004955414:32,357,054...32,433,849
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028
JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA:missense mutation:cds:p.R620W (c.1858C>T) (rs2476601) (human) RGD PMID:19780033 RGD:7829747 NCBI chrNW_004955435:17,082,762...17,139,067 JBrowse link
G Shroom2 shroom family member 2 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 NCBI chrNW_004955499:8,031,961...8,103,307
Ensembl chrNW_004955499:8,031,615...8,100,952
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955412:22,062,618...22,132,037
Ensembl chrNW_004955412:22,062,618...22,131,442
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:12136232 PMID:16963483 PMID:24033266 PMID:24875298 PMID:25741868 More... NCBI chrNW_004955414:32,303,045...32,351,401
Ensembl chrNW_004955414:32,298,759...32,351,505
JBrowse link
Vertigo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Vertigo ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 NCBI chrNW_004955403:23,878,329...23,882,322
Ensembl chrNW_004955403:23,878,329...23,882,322
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Vertigo ClinVar PMID:25741868 NCBI chrNW_004955419:12,569,620...12,662,897
Ensembl chrNW_004955419:12,569,547...12,662,958
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13486
    sensory system disease 5618
      auditory system disease 903
        inner ear disease 645
          vestibular disease 125
            Bilateral Vestibulopathy + 2
            Kabuki syndrome + 94
            Vertigo + 16
            enlarged vestibular aqueduct + 5
Path 2
Term Annotations click to browse term
  disease 13486
    disease of anatomical entity 13221
      nervous system disease 11279
        sensory system disease 5618
          Otorhinolaryngologic Diseases 1441
            auditory system disease 903
              inner ear disease 645
                vestibular disease 125
                  Bilateral Vestibulopathy + 2
                  Kabuki syndrome + 94
                  Vertigo + 16
                  enlarged vestibular aqueduct + 5
paths to the root