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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21269433 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261 		JBrowse link
G ESPN espin ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286153 PMID:10975527 RGD:734943 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr14:77,321,036...77,331,597
Ensembl chr14:77,320,996...77,331,597 		JBrowse link
G KCNA10 potassium voltage-gated channel subfamily A member 10 ISS MouseDO NCBI chr 1:110,517,217...110,519,175
Ensembl chr 1:110,517,217...110,519,175 		JBrowse link
G MYO7A myosin VIIA ISO DNA:mutations:cds:multiple (mouse) RGD PMID:9680294 RGD:4892285 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G OC90 otoconin 90 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21269433 NCBI chr 8:132,024,216...132,059,382
Ensembl chr 8:132,024,216...132,059,382 		JBrowse link
G SRRM4 serine/arginine repetitive matrix 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17613114 NCBI chr12:118,981,541...119,163,051
Ensembl chr12:118,981,541...119,163,051 		JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXI1 forkhead box I1 IAGP
EXP		 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: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 More... NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
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: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160 		JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4		 ClinVar PMID:9618166 PMID:9618167 PMID:10190331 PMID:11405873 PMID:11748854 More... NCBI chr 7:107,709,864...107,710,158 JBrowse link
G LPIN2 lipin 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:20032092 PMID:20645851 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP
EXP
ISO		 DNA:missense mutations, insertions, snp:multiple (human)
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
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: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: SLC26A4-related disorder
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human)		 ClinVar
CTD
OMIM
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7411543, RGD:7421508, RGD:7411671, RGD:7411556 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
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: SLC26A4-related disorder		 ClinVar PMID:9536098 PMID:11317356 PMID:11748854 PMID:11919333 PMID:12642503 More... NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375 		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 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chr 4:139,057,220...139,177,915
Ensembl chr 4:139,028,112...139,177,218 		JBrowse link
G RFC1 replication factor C subunit 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
DNA:repeats:intron:(AAGGG)n (human)
DNA:repeat:intron:
DNA:repeat:intron: 		OMIM
ClinVar
RGD		 PMID:25741868 PMID:35883251 PMID:36478048 PMID:35970061 PMID:32040566 More... RGD:401940162, RGD:41404728, RGD:41404727 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375 		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 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP
ISS
EXP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Kabuki syndrome
OMIM:147920 | OMIM:300867
DNA:mutations:cds:
ClinVar Annotator: match by term: Niikawa-Kuroki syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:2071175 PMID:3067577 PMID:3913813 PMID:9285441 PMID:9536098 More... RGD:9588235, RGD:155582217 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LOC126861520 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:49442744-49443943 IAGP ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:22126750 PMID:23913813 PMID:24728327 PMID:25142838 PMID:25741868 More... NCBI chr12:49,048,961...49,050,160 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 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ATP5MF-PTCD1 ATP5MF-PTCD1 readthrough IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:20818383 PMID:25741868 NCBI chr 7:99,416,739...99,466,167
Ensembl chr 7:99,419,749...99,466,197 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G HCFC1 host cell factor C1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G KDM6A lysine demethylase 6A IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:11261516 PMID:19370762 PMID:23076834 PMID:23913813 PMID:24728327 More... NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Kabuki syndrome 1
ClinVar Annotator: match by term: KMT2D-related condition | ClinVar Annotator: match by term: Kabuki syndrome 1		 ClinVar
OMIM		 PMID:2071175 PMID:3913813 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LOC126861520 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:49442744-49443943 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1
ClinVar Annotator: match by term: KMT2D-related condition | ClinVar Annotator: match by term: Kabuki syndrome 1		 ClinVar PMID:18414213 PMID:22126750 PMID:24728327 PMID:25142838 PMID:25741868 More... NCBI chr12:49,048,961...49,050,160 JBrowse link
G PTCD1 pentatricopeptide repeat domain 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:20818383 PMID:25741868 NCBI chr 7:99,416,739...99,438,798
Ensembl chr 7:99,416,739...99,466,163 		JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239 		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 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:46,573,765...46,598,496
Ensembl chr  X:46,573,765...46,598,496 		JBrowse link
G DIPK2B divergent protein kinase domain 2B IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:45,148,373...45,200,876
Ensembl chr  X:45,148,373...45,200,901 		JBrowse link
G DUSP21 dual specificity phosphatase 21 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:44,844,021...44,844,888
Ensembl chr  X:44,844,021...44,844,888 		JBrowse link
G EFHC2 EF-hand domain containing 2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:44,147,872...44,343,672
Ensembl chr  X:44,147,872...44,343,672 		JBrowse link
G FUNDC1 FUN14 domain containing 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:44,523,639...44,542,859
Ensembl chr  X:44,523,639...44,542,859 		JBrowse link
G KDM6A lysine demethylase 6A IAGP ClinVar Annotator: match by term: Kabuki syndrome 2
ClinVar Annotator: match by term: Kabuki Syndrome - KDM6A		 ClinVar
OMIM		 PMID:9536098 PMID:11261516 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KRBOX4 KRAB box domain containing 4 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:46,447,297...46,474,639
Ensembl chr  X:46,447,292...46,497,422 		JBrowse link
G LOC130068183 ATAC-STARR-seq lymphoblastoid silent region 20785 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:44,873,698...44,873,957 JBrowse link
G LOC130068184 ATAC-STARR-seq lymphoblastoid silent region 20786 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:28492532 NCBI chr  X:44,873,998...44,874,077 JBrowse link
G LOC130068187 ATAC-STARR-seq lymphoblastoid active region 29568 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 NCBI chr  X:45,013,398...45,013,517 JBrowse link
G MAOA monoamine oxidase A IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:43,655,006...43,746,817
Ensembl chr  X:43,654,907...43,746,817 		JBrowse link
G MAOB monoamine oxidase B IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:43,766,610...43,882,450
Ensembl chr  X:43,766,610...43,882,450 		JBrowse link
G MIR221 microRNA 221 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:45,746,157...45,746,266
Ensembl chr  X:45,746,157...45,746,266 		JBrowse link
G MIR222 microRNA 222 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:46,599,251...46,759,118
Ensembl chr  X:46,599,251...46,759,118 		JBrowse link
G ZNF674 zinc finger protein 674 IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:46,497,725...46,545,421
Ensembl chr  X:46,497,725...46,545,457 		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 IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G AQP4 aquaporin 4 susceptibility IEP
IAGP		 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 chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G DTNA dystrobrevin alpha IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 PMID:25741868 PMID:28492532 NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844 		JBrowse link
G FAM136A family with sequence similarity 136 member A IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 NCBI chr 2:70,295,976...70,302,067
Ensembl chr 2:70,295,976...70,302,067 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP DNA:polymorphism:cds:HLA-B44 (human, South Korean) RGD PMID:12542204 RGD:7364921 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism: : HLA-DRB1*15(human) RGD PMID:12542204 RGD:7364921 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A susceptibility IAGP DNA:SNP: :190G>C(human) RGD PMID:19241595 RGD:7257654 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) RGD PMID:23484733 RGD:7387223 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:15221449 PMID:16470552 PMID:20146813 PMID:21487335 PMID:22681893 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOG otogelin IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 PMID:28492532 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA:missense mutation:cds:p.R620W (c.1858C>T) (rs2476601) (human) RGD PMID:19780033 RGD:7829747 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SHROOM2 shroom family member 2 IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 NCBI chr  X:9,786,429...9,949,443
Ensembl chr  X:9,786,429...9,949,443 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Meniere disease ClinVar PMID:12136232 PMID:16963483 PMID:24033266 PMID:24875298 PMID:25741868 More... NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		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 IAGP ClinVar Annotator: match by term: Vertigo ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G TNC tenascin C IAGP ClinVar Annotator: match by term: Vertigo ClinVar PMID:25741868 NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      auditory system disease 1340
        inner ear disease 953
          vestibular disease 65
            Bilateral Vestibulopathy + 2
            Kabuki syndrome + 28
            Vertigo + 20
            enlarged vestibular aqueduct + 7
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9730
            Otorhinolaryngologic Diseases 2281
              auditory system disease 1340
                inner ear disease 953
                  vestibular disease 65
                    Bilateral Vestibulopathy + 2
                    Kabuki syndrome + 28
                    Vertigo + 20
                    enlarged vestibular aqueduct + 7
paths to the root