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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.



show annotations for term's descendants           Sort by:
 
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 chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167
JBrowse link
G ESPN espin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10975527 PMID:15286153 RGD:734943 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr 8:50,133,496...50,143,487
Ensembl chr 8:50,133,714...50,143,439
JBrowse link
G KCNA10 potassium voltage-gated channel subfamily A member 10 ISO MouseDO NCBI chr 6:41,472,886...41,497,254
Ensembl chr 6:41,495,719...41,497,254
JBrowse link
G MYO7A myosin VIIA ISO DNA:mutations:cds:multiple (mouse) RGD PMID:9680294 RGD:4892285 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G OC90 otoconin 90 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21269433 NCBI chr13:28,680,910...28,700,816 JBrowse link
G SRRM4 serine/arginine repetitive matrix 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17613114 NCBI chr26:15,049,612...15,324,454
Ensembl chr26:15,057,392...15,318,325
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 chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
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 chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836
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 chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
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 chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
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 chr 3:73,062,292...73,136,576
Ensembl chr 3:73,062,329...73,135,096
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 chr19:3,482,845...3,580,380
Ensembl chr19:3,483,542...3,578,870
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 chr 3:73,062,292...73,136,576
Ensembl chr 3:73,062,329...73,135,096
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 chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542
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 chr  X:38,745,854...38,964,029
Ensembl chr  X:38,745,854...38,959,842
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 chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
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 chr13:61,278,193...61,539,545 JBrowse link
G AFM afamin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,212,230...62,235,136
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G AFP alpha fetoprotein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,182,876...62,203,414
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ALB albumin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:36,369,246...36,380,963 JBrowse link
G AMBN ameloblastin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,899,968...59,912,699
Ensembl chr13:59,899,960...59,912,655
JBrowse link
G AMTN amelotin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,855,278...59,867,133
Ensembl chr13:59,852,490...59,867,516
JBrowse link
G ANKRD17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:61,892,872...62,046,625
Ensembl chr13:61,893,951...62,012,404
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071
JBrowse link
G ANXA3 annexin A3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:3,006,000...3,049,321
Ensembl chr32:3,005,788...3,049,049
JBrowse link
G AREG amphiregulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738
JBrowse link
G ART3 ADP-ribosyltransferase 3 (inactive) ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:563,628...742,482
Ensembl chr32:537,603...742,292
JBrowse link
G ATP5J2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:20818383 PMID:25741868 NCBI chr 6:10,128,623...10,172,377 JBrowse link
G BMP2K BMP2 inducible kinase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:3,178,554...3,293,397
Ensembl chr32:3,178,460...3,288,926
JBrowse link
G BMP3 bone morphogenetic protein 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:5,206,040...5,233,848
Ensembl chr32:5,207,833...5,231,966
JBrowse link
G BTC betacellulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr15:64,133,051...64,159,155
Ensembl chr15:64,135,920...64,158,970
JBrowse link
G CABS1 calcium binding protein, spermatid associated 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,691,575...59,712,204 JBrowse link
G CCDC158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:957,336...1,084,795
Ensembl chr32:957,402...1,060,813
JBrowse link
G CCNG2 cyclin G2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:1,719,325...1,727,769
Ensembl chr32:1,720,156...1,726,842
JBrowse link
G CCNI cyclin I ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:1,612,590...1,650,661
Ensembl chr32:1,608,330...1,645,352
JBrowse link
G CDKL2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:158,140...206,860
Ensembl chr32:159,332...202,617
JBrowse link
G CFAP299 cilia and flagella associated protein 299 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:4,569,871...5,147,670
Ensembl chr32:4,569,816...5,147,979
JBrowse link
G CNOT6L CCR4-NOT transcription complex subunit 6 like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:2,192,800...2,305,526
Ensembl chr32:2,145,813...2,306,229
JBrowse link
G COX18 cytochrome c oxidase assembly factor COX18 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:61,875,507...61,888,068
Ensembl chr13:61,877,194...61,888,387
JBrowse link
G CSN1S1 casein alpha s1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,420,761...59,432,463
Ensembl chr13:59,417,974...59,432,106
JBrowse link
G CSN2 casein beta ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,436,726...59,444,398
Ensembl chr13:59,438,601...59,444,398
JBrowse link
G CSN3 casein kappa ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,613,026...59,629,095
Ensembl chr13:59,621,106...59,626,552
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:631,084...636,997
Ensembl chr32:631,478...632,868
Ensembl chr32:631,478...632,868
JBrowse link
G CXCL13 C-X-C motif chemokine ligand 13 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:2,047,277...2,053,277
Ensembl chr32:2,047,315...2,052,833
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G DCK deoxycytidine kinase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:60,206,742...60,236,338
Ensembl chr13:60,205,937...60,235,678
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 chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G ENAM enamelin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949
JBrowse link
G ENOPH1 enolase-phosphatase 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:6,408,778...6,451,606
Ensembl chr32:6,407,460...6,450,790
JBrowse link
G EPGN epithelial mitogen ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,803,595...62,811,581
Ensembl chr13:62,803,654...62,810,274
JBrowse link
G EREG epiregulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,857,325...62,877,831
Ensembl chr13:62,856,709...62,877,760
JBrowse link
G FAM47E family with sequence similarity 47 member E ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:904,947...930,985 JBrowse link
G FGF5 fibroblast growth factor 5 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:4,508,810...4,529,449
Ensembl chr32:4,508,217...4,528,915
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063
JBrowse link
G G3BP2 G3BP stress granule assembly factor 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:218,783...305,734
Ensembl chr32:220,439...252,593
JBrowse link
G GC GC vitamin D binding protein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
JBrowse link
G GK2 glycerol kinase 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:3,731,108...3,732,973
Ensembl chr32:3,731,281...3,732,942
JBrowse link
G GRSF1 G-rich RNA sequence binding factor 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:60,088,198...60,102,292
Ensembl chr13:60,089,429...60,100,099
JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715
JBrowse link
G HNRNPD heterogeneous nuclear ribonucleoprotein D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:6,323,444...6,341,238
Ensembl chr32:6,323,469...6,341,166
JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:6,401,266...6,408,006
Ensembl chr32:6,402,762...6,407,845
JBrowse link
G JCHAIN joining chain of multimeric IgA and IgM ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,962,604...59,970,812
Ensembl chr13:59,962,994...59,970,751
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 chr  X:38,745,854...38,964,029
Ensembl chr  X:38,745,854...38,959,842
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
JBrowse link
G KMT2B lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr 1:116,894,024...116,913,464
Ensembl chr 1:116,893,074...116,913,472
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 chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G LOC106557449 alveolar macrophage chemotactic factor-like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,514,244...62,516,439
Ensembl chr13:62,513,898...62,515,218
JBrowse link
G LOC119874467 UDP-glucuronosyltransferase 2A1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868
G LOC480777 UDP-glucuronosyltransferase 2A1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:58,911,301...58,932,594
Ensembl chr13:59,138,348...59,222,802
Ensembl chr13:59,138,348...59,222,802
JBrowse link
G LOC482174 transmembrane protease serine 11F ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:58,550,709...58,637,729
Ensembl chr13:58,551,902...58,638,086
JBrowse link
G LOC482175 transmembrane protease serine 11B-like protein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:58,648,662...58,656,588 JBrowse link
G LOC482176 transmembrane protease serine 11E ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:58,709,560...58,752,240
Ensembl chr13:58,712,601...58,781,418
JBrowse link
G LOC482182 sulfotransferase 1E1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,323,430...59,343,745 JBrowse link
G LOC608868 formin-like protein 20 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,727,093...59,734,628 JBrowse link
G MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 2:55,175,000...55,258,160
Ensembl chr 2:55,174,837...55,253,975
JBrowse link
G MOB1B MOB kinase activator 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:60,145,168...60,197,916
Ensembl chr13:60,145,366...60,195,463
JBrowse link
G MRPL1 mitochondrial ribosomal protein L1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:2,307,485...2,457,587
Ensembl chr32:2,363,454...2,496,034
JBrowse link
G MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,670,543...62,803,270
Ensembl chr13:62,670,462...62,803,519
JBrowse link
G MUC7 mucin 7, secreted ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,805,768...59,813,415 JBrowse link
G NAA11 N-alpha-acetyltransferase 11, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:3,648,192...3,657,770
Ensembl chr32:3,656,949...3,657,638
JBrowse link
G NAAA N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:483,317...504,304 JBrowse link
G NPFFR2 neuropeptide FF receptor 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:61,140,285...61,164,966
Ensembl chr13:61,148,828...61,164,811
JBrowse link
G NUP54 nucleoporin 54 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:751,568...782,342
Ensembl chr32:751,982...782,314
JBrowse link
G ODAM odontogenic, ameloblast associated ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,588,642...59,597,873
Ensembl chr13:59,588,647...59,597,873
JBrowse link
G ODAPH odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:133,974...141,303
Ensembl chr32:133,816...140,958
JBrowse link
G PAQR3 progestin and adipoQ receptor family member 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:3,292,034...3,316,914
Ensembl chr32:3,288,645...3,316,965
JBrowse link
G PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,526,571...62,528,527
Ensembl chr13:62,526,571...62,528,527
JBrowse link
G PPEF2 protein phosphatase with EF-hand domain 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:443,495...467,929 JBrowse link
G PRDM8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:4,435,693...4,451,500
Ensembl chr32:4,443,289...4,451,036
JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:5,266,435...5,365,396
Ensembl chr32:5,266,442...5,365,396
JBrowse link
G PRR27 proline rich 27 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,540,017...59,555,218
Ensembl chr13:59,540,011...59,555,213
JBrowse link
G RASGEF1B RasGEF domain family member 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:5,545,489...6,090,119
Ensembl chr32:5,546,524...6,090,764
JBrowse link
G RASSF6 Ras association domain family member 6 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:62,299,717...62,344,698
Ensembl chr13:62,300,876...62,345,372
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 chr32:67,136...94,053
Ensembl chr32:67,509...93,987
JBrowse link
G RUFY3 RUN and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:60,007,041...60,079,198
Ensembl chr13:60,007,056...60,078,617
JBrowse link
G SCARB2 scavenger receptor class B member 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:788,117...865,496
Ensembl chr32:790,379...865,502
JBrowse link
G SCD5 stearoyl-CoA desaturase 5 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:6,594,607...6,745,379
Ensembl chr32:6,595,424...6,745,308
JBrowse link
G SDAD1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:511,810...538,293
Ensembl chr32:514,697...538,140
JBrowse link
G SEPTIN11 septin 11 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:1,553,208...1,608,132
Ensembl chr32:1,475,748...1,607,107
JBrowse link
G SHROOM3 shroom family member 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:1,218,513...1,392,014
Ensembl chr32:1,271,392...1,391,798
JBrowse link
G SLC4A4 solute carrier family 4 member 4 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:60,375,215...60,670,664
Ensembl chr13:60,328,136...60,666,728
JBrowse link
G SOWAHB sosondowah ankyrin repeat domain family member B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:1,473,709...1,476,660
Ensembl chr32:1,474,316...1,476,535
JBrowse link
G STBD1 starch binding domain 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:932,245...953,070
Ensembl chr32:951,698...952,897
JBrowse link
G SULT1B1 sulfotransferase family 1B member 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,229,514...59,244,387
Ensembl chr13:59,229,514...59,244,434
JBrowse link
G THAP6 THAP domain containing 6 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:94,055...111,365
Ensembl chr32:94,162...114,744
JBrowse link
G TMEM150C transmembrane protein 150C ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:6,465,047...6,552,492
Ensembl chr32:6,466,035...6,539,078
JBrowse link
G TMPRSS11A transmembrane serine protease 11A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:58,412,487...58,484,166
Ensembl chr13:58,432,305...58,482,573
JBrowse link
G TMPRSS11D transmembrane serine protease 11D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:58,354,360...58,406,229
Ensembl chr13:58,355,829...58,406,622
JBrowse link
G UGT2A3 UDP glucuronosyltransferase family 2 member A3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,036,107...59,057,684 JBrowse link
G USO1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr32:305,895...395,113
Ensembl chr32:305,935...394,896
JBrowse link
G UTP3 UTP3 small subunit processome component ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:59,994,445...59,996,221
Ensembl chr13:59,994,716...59,996,146
JBrowse link
G YTHDC1 YTH domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr13:58,818,424...58,858,241
Ensembl chr13:58,818,796...58,857,571
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 chr12:66,368,160...66,380,631
Ensembl chr12:66,369,083...66,380,759
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 chr  X:40,209,884...40,239,077
Ensembl chr  X:40,210,096...40,211,556
JBrowse link
G DIPK2B divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:38,996,003...39,039,589
Ensembl chr  X:38,999,379...39,039,315
JBrowse link
G DUSP21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:38,721,877...38,722,808
Ensembl chr  X:38,722,062...38,722,631
JBrowse link
G EFHC2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:38,133,964...38,297,285
Ensembl chr  X:38,134,891...38,329,080
JBrowse link
G FUNDC1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:38,492,470...38,505,512
Ensembl chr  X:38,492,720...38,505,424
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 chr  X:38,745,854...38,964,029
Ensembl chr  X:38,745,854...38,959,842
JBrowse link
G KRBOX4 KRAB box domain containing 4 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376
G MAOA monoamine oxidase A ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G MAOB monoamine oxidase B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:37,765,810...37,883,955
Ensembl chr  X:37,765,813...37,883,955
JBrowse link
G MIR221 microRNA mir-221 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:39,523,890...39,523,951
Ensembl chr  X:39,523,885...39,523,954
JBrowse link
G MIR222 microRNA mir-222 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:39,524,519...39,524,608
Ensembl chr  X:39,524,519...39,524,608
JBrowse link
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:37,949,560...37,975,573
Ensembl chr  X:37,950,489...37,975,346
JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:40,472,525...40,525,726
Ensembl chr  X:40,472,596...40,524,883
JBrowse link
G SLC9A7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:40,240,169...40,389,167
Ensembl chr  X:40,245,654...40,389,423
JBrowse link
G ZNF674 zinc finger protein 674 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:40,146,143...40,179,963
Ensembl chr  X:40,122,425...40,153,968
Ensembl chr  X:40,122,425...40,153,968
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 chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
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 chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:22,472,365...22,478,931 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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G DLA88 MHC class I DLA-88 ISO DNA:polymorphism:cds:HLA-B44 (human, South Korean) RGD PMID:12542204 RGD:7364921 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690
JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 PMID:25741868 PMID:28492532 NCBI chr 7:55,068,555...55,420,377
Ensembl chr 7:55,069,462...55,420,259
JBrowse link
G FAM136A family with sequence similarity 136 member A ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 NCBI chr10:68,837,611...68,841,750 JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism: : HLA-DRB1*15(human) RGD PMID:12542204 RGD:7364921 NCBI chr12:2,151,409...2,164,564 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) RGD PMID:23484733 RGD:7387223 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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 chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
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 chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 PMID:28492532 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G SHROOM2 shroom family member 2 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 NCBI chr  X:6,499,570...6,642,738
Ensembl chr  X:6,499,354...6,641,946
JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
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 chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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 chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162
JBrowse link
G TNC tenascin C ISO ClinVar Annotator: match by term: Vertigo ClinVar PMID:25741868 NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14795
    sensory system disease 6018
      auditory system disease 990
        inner ear disease 721
          vestibular disease 146
            Bilateral Vestibulopathy + 2
            Kabuki syndrome + 113
            Vertigo + 18
            enlarged vestibular aqueduct + 5
Path 2
Term Annotations click to browse term
  disease 14795
    disease of anatomical entity 14477
      nervous system disease 12312
        sensory system disease 6018
          Otorhinolaryngologic Diseases 1570
            auditory system disease 990
              inner ear disease 721
                vestibular disease 146
                  Bilateral Vestibulopathy + 2
                  Kabuki syndrome + 113
                  Vertigo + 18
                  enlarged vestibular aqueduct + 5
paths to the root