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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: EFO:0009691;   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 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099 		JBrowse link
G ESPN espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10975527 PMID:15286153 RGD:734943 NCBI chr 1:5,184,666...5,222,473 JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr14:57,874,184...57,901,397
Ensembl chr14:77,075,814...77,086,530 		JBrowse link
G KCNA10 potassium voltage-gated channel subfamily A member 10 ISO MouseDO NCBI chr 1:113,165,493...113,167,439
Ensembl chr 1:127,176,736...127,178,271 		JBrowse link
G MYO7A myosin VIIA ISO DNA:mutations:cds:multiple (mouse) RGD PMID:9680294 RGD:4892285 NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G OC90 otoconin 90 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21269433 NCBI chr 8:128,672,427...128,708,307 JBrowse link
G SRRM4 serine/arginine repetitive matrix 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17613114 NCBI chr12:116,561,412...116,743,153
Ensembl chr12:120,060,023...120,117,181 		JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr19:41,649,625...41,659,151
Ensembl chr19:50,254,123...50,262,808 		JBrowse link
G FOXI1 forkhead box I1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | 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 5:165,468,600...165,473,088
Ensembl chr 5:172,228,840...172,232,692 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | 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:20651251 PMID:20678478 PMID:20807765 More... NCBI chr 1:135,391,321...135,424,100 JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct ClinVar PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 More... NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:20032092 PMID:20645851 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:11,270,941...11,367,312
Ensembl chr18:13,608,883...13,675,165 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
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:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637 		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 chr 4:33,618,590...33,695,999
Ensembl chr 4:39,471,719...39,548,548 		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 4:131,420,985...131,540,691
Ensembl chr 4:142,731,593...142,850,778 		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 PMID:35883251 PMID:36478048 NCBI chr 4:33,618,590...33,695,999
Ensembl chr 4:39,471,719...39,548,548 		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 chr2A:71,000,096...71,030,306
Ensembl chr2A:72,113,859...72,143,612 		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:37,313,000...37,548,630
Ensembl chr  X:45,127,382...45,362,029 		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:2071175 PMID:3067577 PMID:3913813 PMID:9285441 PMID:9536098 More... NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661 		JBrowse link
Kabuki Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:3,995,711...4,009,476
Ensembl chr16:5,158,979...5,173,189 		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 chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487 		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:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999 		JBrowse link
G KDM6A lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:11261516 PMID:19370762 PMID:23076834 PMID:23913813 PMID:24728327 More... NCBI chr  X:37,313,000...37,548,630
Ensembl chr  X:45,127,382...45,362,029 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100 		JBrowse link
G KMT2B lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr19:32,647,815...32,668,656
Ensembl chr19:41,382,458...41,402,695 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: KMT2D-related condition | ClinVar Annotator: match by term: Kabuki syndrome 1 OMIM
ClinVar		 PMID:2071175 PMID:3913813 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661 		JBrowse link
G PTCD1 pentatricopeptide repeat domain 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:20818383 PMID:25741868 NCBI chr 7:91,392,616...91,411,904
Ensembl chr 7:104,894,369...104,913,860 		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 chr 6:107,265,762...107,286,397
Ensembl chr 6:111,314,134...111,334,674 		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:39,012,011...39,036,655
Ensembl chr  X:46,873,942...46,875,436 		JBrowse link
G DIPK2B divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:37,587,189...37,639,862
Ensembl chr  X:45,398,721...45,451,579 		JBrowse link
G DUSP21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:37,283,220...37,284,119
Ensembl chr  X:45,099,045...45,099,617 		JBrowse link
G EFHC2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:36,598,626...36,793,524
Ensembl chr  X:44,422,431...44,617,327 		JBrowse link
G FUNDC1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:36,970,051...36,989,276
Ensembl chr  X:44,790,550...44,809,793 		JBrowse link
G KDM6A lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki Syndrome - KDM6A | ClinVar Annotator: match by term: Kabuki syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:11261516 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr  X:37,313,000...37,548,630
Ensembl chr  X:45,127,382...45,362,029 		JBrowse link
G KRBOX4 KRAB box domain containing 4 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:38,884,022...38,911,730
Ensembl chr  X:46,746,562...46,796,330 		JBrowse link
G MAOA monoamine oxidase A ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199 		JBrowse link
G MAOB monoamine oxidase B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:36,217,710...36,333,516
Ensembl chr  X:44,042,000...44,157,941 		JBrowse link
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:36,399,868...36,424,953
Ensembl chr  X:44,224,161...44,249,067 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:39,274,103...39,319,832
Ensembl chr  X:47,133,639...47,178,608 		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:39,037,499...39,197,421
Ensembl chr  X:46,906,644...47,057,705 		JBrowse link
G ZNF674 zinc finger protein 674 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:38,935,585...38,983,728
Ensembl chr  X:46,799,224...46,846,082 		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 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477 		JBrowse link
G AQP4 aquaporin 4 susceptibility ISO DNA:conservative mutation:cds:c.105G>C(human)
protein:decreased expression:macula of utricle of membranous labyrinth:		 RGD PMID:20461409 PMID:21063116 RGD:8696022 RGD:8696023 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919 		JBrowse link
G C8H10orf105 chromosome 8 C10orf105 homolog ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:68,182,453...68,190,718 JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 PMID:25741868 PMID:28492532 NCBI chr18:27,706,576...28,116,328
Ensembl chr18:31,524,255...31,705,386 		JBrowse link
G FAM136A family with sequence similarity 136 member A ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 NCBI chr2A:70,350,196...70,356,316
Ensembl chr2A:71,467,428...71,471,987 		JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A susceptibility ISO DNA:SNP: :190G>C(human) RGD PMID:19241595 RGD:7257654 NCBI chr 6:31,476,710...31,491,411 JBrowse link
G LOC100982859 class I histocompatibility antigen, Gogo-B*0101 alpha chain ISO DNA:polymorphism:cds:HLA-B44 (human, South Korean) RGD PMID:12542204 RGD:7364921 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067 		JBrowse link
G LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) RGD PMID:23484733 RGD:7387223 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:15221449 PMID:16470552 PMID:20146813 PMID:21487335 PMID:22681893 More... NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		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 chr11:17,601,738...17,701,472
Ensembl chr11:17,287,150...17,386,100 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 PMID:28492532 NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		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 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830 		JBrowse link
G SHROOM2 shroom family member 2 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 NCBI chr  X:2,418,883...2,580,853
Ensembl chr  X:9,755,524...9,832,733 		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 chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256 		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 More... NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549 		JBrowse link
G TNC tenascin C ISO ClinVar Annotator: match by term: Vertigo ClinVar PMID:25741868 NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      auditory system disease 940
        inner ear disease 617
          vestibular disease 55
            Bilateral Vestibulopathy + 2
            Kabuki syndrome + 21
            Vertigo + 17
            enlarged vestibular aqueduct + 7
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            Otorhinolaryngologic Diseases 1673
              auditory system disease 940
                inner ear disease 617
                  vestibular disease 55
                    Bilateral Vestibulopathy + 2
                    Kabuki syndrome + 21
                    Vertigo + 17
                    enlarged vestibular aqueduct + 7
paths to the root