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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 chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
JBrowse link
G Espn espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15286153 PMID:10975527 RGD:734943 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284
JBrowse link
G Kcna10 potassium voltage-gated channel subfamily A member 10 ISS MouseDO NCBI chr 2:194,786,500...194,798,575
Ensembl chr 2:194,786,500...194,798,575
JBrowse link
G Myo7a myosin VIIA ISO DNA:mutations:cds:multiple (mouse) RGD PMID:9680294 RGD:4892285 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Oc90 otoconin 90 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21269433 NCBI chr 7:97,635,890...97,669,416
Ensembl chr 7:97,635,890...97,669,416
JBrowse link
G Srrm4 serine/arginine repetitive matrix 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17613114 NCBI chr12:39,998,975...40,158,897
Ensembl chr12:39,999,488...40,155,725
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 chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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 chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
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 chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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
DNA:mutations:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human)
DNA:missense mutations, insertions, snp:multiple (human)
OMIM
ClinVar
RGD
PMID:8285825 PMID:8541853 PMID:8630498 PMID:9070918 PMID:9398842 More... RGD:7421508, RGD:7411671, RGD:7411556, RGD:7411543 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
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 chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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 chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947
JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
DNA:repeat:intron:
DNA:repeat:intron:
OMIM
ClinVar
RGD
PMID:25741868 PMID:32040566 PMID:30926972 RGD:41404728, RGD:41404727 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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 ISS OMIM:600791 MouseDO NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
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:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:3067577 PMID:9285441 PMID:9536098 PMID:12482968 PMID:14608645 More... RGD:9588235 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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 chr14:18,231,051...18,437,773
Ensembl chr14:18,231,165...18,435,556
JBrowse link
G Afm afamin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,531,026...17,563,868
Ensembl chr14:17,531,024...17,563,870
JBrowse link
G Afp alpha-fetoprotein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
JBrowse link
G Alb albumin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Ambn ameloblastin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,601,761...19,614,382
Ensembl chr14:19,601,702...19,614,393
JBrowse link
G Amtn amelotin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181
JBrowse link
G Ankrd17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,723,239...17,862,625
Ensembl chr14:17,721,932...17,862,617
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
JBrowse link
G Anxa3 annexin A3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,727,708...12,781,717
Ensembl chr14:12,719,795...12,781,617
JBrowse link
G Areg amphiregulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
JBrowse link
G Art3 ADP-ribosyltransferase 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,637,230...15,719,442
Ensembl chr14:15,637,237...15,665,407
JBrowse link
G Bmp2k BMP-2 inducible kinase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,481,194...12,579,411
Ensembl chr14:12,484,729...12,579,134
JBrowse link
G Bmp3 bone morphogenetic protein 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:10,712,489...10,737,153
Ensembl chr14:10,712,489...10,737,153
JBrowse link
G Btc betacellulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
JBrowse link
G Cabs1 calcium binding protein, spermatid associated 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,096,962...20,099,024
Ensembl chr14:20,096,899...20,099,181
JBrowse link
G Ccdc158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,411,178...15,468,579
Ensembl chr14:15,411,163...15,468,581
JBrowse link
G Ccng2 cyclin G2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:14,804,321...14,812,819
Ensembl chr14:14,804,322...14,812,830
JBrowse link
G Ccni cyclin I ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:14,879,698...14,902,510
Ensembl chr14:14,879,717...14,902,510
JBrowse link
G Cdkl2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,027,381...16,063,257
Ensembl chr14:16,028,363...16,063,252
JBrowse link
G Cfap299 cilia and flagella associated protein 299 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:10,787,191...11,272,894
Ensembl chr14:10,787,203...11,272,943
JBrowse link
G Cnot6l CCR4-NOT transcription complex, subunit 6-like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:13,410,501...13,502,511
Ensembl chr14:13,411,281...13,498,203
JBrowse link
G Cox18 cytochrome c oxidase assembly factor COX18 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,864,581...17,877,483
Ensembl chr14:17,865,857...17,877,480
JBrowse link
G Csn1s1 casein alpha s1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,343,620...20,359,614
Ensembl chr14:20,343,619...20,359,614
JBrowse link
G Csn2 casein beta ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,322,581...20,329,818
Ensembl chr14:20,322,581...20,329,817
JBrowse link
G Csn3 casein kappa ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,154,032...20,160,585
Ensembl chr14:20,154,032...20,160,587
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
JBrowse link
G Cxcl13 C-X-C motif chemokine ligand 13 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:13,608,894...13,613,965
Ensembl chr14:13,608,902...13,613,933
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,270,146...17,289,458
Ensembl chr14:17,270,146...17,289,511
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Dck deoxycytidine kinase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,305,218...19,326,247
Ensembl chr14:19,305,218...19,326,247
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 chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Enam enamelin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
JBrowse link
G Enoph1 enolase-phosphatase 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:9,531,336...9,557,797
Ensembl chr14:9,531,339...9,569,273
JBrowse link
G Epgn epithelial mitogen ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,076,774...17,084,806
Ensembl chr14:17,076,774...17,084,806
JBrowse link
G Ereg epiregulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
JBrowse link
G Fam47e family with sequence similarity 47, member E ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,485,537...15,521,599
Ensembl chr14:15,485,127...15,521,775
JBrowse link
G Fdcsp follicular dendritic cell secreted protein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,169,691...20,173,983
Ensembl chr14:20,169,691...20,173,983
JBrowse link
G Fgf5 fibroblast growth factor 5 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:11,325,334...11,346,570
Ensembl chr14:11,325,334...11,345,997
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
JBrowse link
G G3bp2 G3BP stress granule assembly factor 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,932,356...16,020,555
Ensembl chr14:15,987,417...16,020,548
JBrowse link
G Gc GC, vitamin D binding protein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
JBrowse link
G Gk2 glycerol kinase 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,107,071...12,108,923
Ensembl chr14:12,107,020...12,128,473
JBrowse link
G Grsf1 G-rich RNA sequence binding factor 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,412,944...19,429,364
Ensembl chr14:19,412,156...19,429,362
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:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Hnrnpd heterogeneous nuclear ribonucleoprotein D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:9,615,375...9,638,975
Ensembl chr14:9,615,479...9,633,786
JBrowse link
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:9,558,079...9,563,654
Ensembl chr14:9,557,425...9,562,506
JBrowse link
G Jchain joining chain of multimeric IgA and IgM ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,538,560...19,546,384
Ensembl chr14:19,538,952...19,546,298
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:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
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 chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
JBrowse link
G Mob1b MOB kinase activator 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,333,058...19,365,845
Ensembl chr14:19,332,459...19,365,845
JBrowse link
G Mrpl1 mitochondrial ribosomal protein L1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:13,300,522...13,359,654
Ensembl chr14:13,300,522...13,359,721
JBrowse link
G Mthfd2l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,089,947...17,170,036
Ensembl chr14:17,089,952...17,170,112
JBrowse link
G Naa11 N(alpha)-acetyltransferase 11, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,183,651...12,193,687
Ensembl chr14:12,183,651...12,193,686
JBrowse link
G Naaa N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,777,306...15,796,411
Ensembl chr14:15,777,306...15,796,410
JBrowse link
G Npffr2 neuropeptide FF receptor 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:18,513,277...18,521,919
Ensembl chr14:18,513,277...18,521,919
JBrowse link
G Nup54 nucleoporin 54 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,617,630...15,636,029
Ensembl chr14:15,617,679...15,636,028
JBrowse link
G Odam odontogenic, ameloblast associated ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,193,286...20,202,517
Ensembl chr14:20,193,302...20,202,517
JBrowse link
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,071,835...16,084,210
Ensembl chr14:16,073,058...16,080,129
JBrowse link
G Oprpn opiorphin prepropeptide ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,702,535...19,717,550
Ensembl chr14:19,702,535...19,717,550
JBrowse link
G Paqr3 progestin and adipoQ receptor family member 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,462,568...12,484,999
Ensembl chr14:12,462,563...12,479,994
JBrowse link
G Parm1 prostate androgen-regulated mucin-like protein 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,468,309...16,577,339
Ensembl chr14:16,468,459...16,577,314
JBrowse link
G Pf4 platelet factor 4 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,298,438...17,299,148
Ensembl chr14:17,298,308...17,299,365
JBrowse link
G Ppbp pro-platelet basic protein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
JBrowse link
G Ppef2 protein phosphatase with EF-hand domain 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,797,435...15,831,614
Ensembl chr14:15,797,435...15,831,491
JBrowse link
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:11,403,202...11,424,059
Ensembl chr14:11,404,407...11,410,993
JBrowse link
G Prkg2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
JBrowse link
G Prr27 proline rich 27 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,232,757...20,248,617
Ensembl chr14:20,232,758...20,248,595
JBrowse link
G Ptcd1 pentatricopeptide repeat domain 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:20818383 PMID:25741868 NCBI chr12:9,445,656...9,463,508
Ensembl chr12:9,445,714...9,463,508
JBrowse link
G Rasgef1b RasGEF domain family, member 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:9,859,512...10,380,044
Ensembl chr14:9,860,247...10,379,741
JBrowse link
G Rassf6 Ras association domain family member 6 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,433,328...17,473,565
Ensembl chr14:17,442,789...17,473,330
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 chr14:16,113,263...16,129,017
Ensembl chr14:16,113,224...16,129,167
JBrowse link
G RGD1559459 similar to Expressed sequence AI788959 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,146,140...21,167,706
Ensembl chr14:21,145,827...21,167,704
JBrowse link
G Rufy3 RUN and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,431,530...19,506,531
Ensembl chr14:19,432,524...19,507,004
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813
JBrowse link
G Sdad1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,741,489...15,768,270
Ensembl chr14:15,741,434...15,771,066
JBrowse link
G Septin11 septin 11 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:14,844,759...14,990,856
Ensembl chr14:14,844,580...14,990,853
JBrowse link
G Shroom3 shroom family member 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,099,415...15,396,832
Ensembl chr14:15,099,423...15,396,915
JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
JBrowse link
G Smr3a submaxillary gland androgen regulated protein 3A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,053,779...20,059,568
Ensembl chr14:20,053,779...20,059,568
JBrowse link
G Smr3b submaxillary gland androgen regulated protein 3B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,783,815...19,788,557
Ensembl chr14:19,783,816...19,788,492
JBrowse link
G Sowahb sosondowah ankyrin repeat domain family member B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,029,155...15,033,589
Ensembl chr14:15,029,395...15,031,698
JBrowse link
G Stath statherin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,307,324...20,311,182
Ensembl chr14:20,307,324...20,311,182
JBrowse link
G Stbd1 starch binding domain 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,470,452...15,473,857
Ensembl chr14:15,469,582...15,477,443
JBrowse link
G Sult1b1 sulfotransferase family 1B member 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,492,763...20,505,491
Ensembl chr14:20,492,708...20,505,483
JBrowse link
G Sult1e1 sulfotransferase family 1E member 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,422,324...20,439,562
Ensembl chr14:20,422,324...20,439,275
JBrowse link
G Thap6 THAP domain containing 6 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,092,919...16,113,528
Ensembl chr14:16,101,312...16,113,448
JBrowse link
G Tmem150c transmembrane protein 150C ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:9,454,999...9,525,300
Ensembl chr14:9,508,515...9,525,298
JBrowse link
G Tmprss11a transmembrane serine protease 11A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,624,881...21,665,284
Ensembl chr14:21,606,547...21,665,279
JBrowse link
G Tmprss11b transmembrane serine protease 11B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,385,924...21,405,894
Ensembl chr14:21,383,862...21,408,817
JBrowse link
G Tmprss11d transmembrane serine protease 11D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,707,336...21,769,398
Ensembl chr14:21,707,336...21,769,396
JBrowse link
G Tmprss11e transmembrane serine protease 11E ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,296,127...21,328,203
Ensembl chr14:21,282,823...21,327,184
JBrowse link
G Tmprss11f transmembrane serine protease 11F ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,492,896...21,534,792
Ensembl chr14:21,429,418...21,534,809
JBrowse link
G Ugt2a1 UDP glucuronosyltransferase family 2 member A1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,521,018...20,545,060
Ensembl chr14:20,517,951...20,545,531
JBrowse link
G Ugt2a3 UDP glucuronosyltransferase family 2 member A3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,572,825...20,590,295
Ensembl chr14:20,572,808...20,590,729
JBrowse link
G Ugt2b17 UDP glucuronosyltransferase family 2 member B17 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,024,035...21,035,784
Ensembl chr14:21,024,006...21,035,986
JBrowse link
G Ugt2b7 UDP glucuronosyltransferase family 2 member B7 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,896,682...20,919,604
Ensembl chr14:20,896,682...20,919,604
JBrowse link
G Uso1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,866,638...15,932,185
Ensembl chr14:15,866,638...15,932,171
JBrowse link
G Utp3 UTP3, small subunit processome component ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,515,716...19,517,370
Ensembl chr14:19,515,669...19,517,396
JBrowse link
G Ythdc1 YTH domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,185,438...21,215,934
Ensembl chr14:21,185,440...21,216,028
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 chr20:44,943,302...44,965,329
Ensembl chr20:44,947,297...44,963,963
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:2,396,260...2,432,828
Ensembl chr  X:2,393,874...2,432,840
JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:4,205,486...4,274,939
Ensembl chr  X:4,205,490...4,271,574
JBrowse link
G Dusp21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:4,488,021...4,488,877
Ensembl chr  X:4,488,021...4,488,877
JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:5,360,499...5,564,004
Ensembl chr  X:5,360,617...5,560,970
JBrowse link
G Fundc1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:5,083,635...5,100,293
Ensembl chr  X:5,083,617...5,100,284
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:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003
JBrowse link
G Mir221 microRNA 221 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573
JBrowse link
G Mir222 microRNA 222 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
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:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688
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:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012
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 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
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 chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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 chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 PMID:25741868 PMID:28492532 NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261
JBrowse link
G Fam136a family with sequence similarity 136, member A ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 NCBI chr 4:118,805,129...118,811,046
Ensembl chr 4:118,805,127...118,811,047
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A susceptibility ISO DNA:SNP: :190G>C(human) RGD PMID:19241595 RGD:7257654
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) RGD PMID:23484733 RGD:7387223 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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 chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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 chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 PMID:28492532 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
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 chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B44 (human, South Korean) RGD PMID:12542204 RGD:7364921 NCBI chr20:3,314,984...3,318,037 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: : HLA-DRB1*15(human) RGD PMID:12542204 RGD:7364921 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Shroom2 shroom family member 2 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 NCBI chr  X:21,812,469...21,983,724
Ensembl chr  X:21,812,469...21,984,153
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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 chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
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 chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Vertigo ClinVar PMID:25741868 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      auditory system disease 1069
        inner ear disease 796
          vestibular disease 154
            Bilateral Vestibulopathy + 2
            Kabuki syndrome + 120
            Vertigo + 19
            enlarged vestibular aqueduct + 5
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          Otorhinolaryngologic Diseases 1665
            auditory system disease 1069
              inner ear disease 796
                vestibular disease 154
                  Bilateral Vestibulopathy + 2
                  Kabuki syndrome + 120
                  Vertigo + 19
                  enlarged vestibular aqueduct + 5
paths to the root