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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 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 CFTR CF transmembrane conductance regulator IAGP 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 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G FOXI1 forkhead box I1 IAGP 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 5:170,105,897...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 ClinVar Annotator: match by term: KCNJ10-Related Disorders
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 4
ClinVar Annotator: match by term: Dilated vestibular aqueduct
OMIM
ClinVar
PMID:19289823 PMID:19426954 PMID:20807765 PMID:23869231 PMID:23918157 More... NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160
JBrowse link
G LOC111674475 CFTR intron 11 enhancer IAGP 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 7:117,587,146...117,589,449 JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar PMID:9618166 PMID:10190331 PMID:11405873 PMID:11748854 PMID:12676893 More... NCBI chr 7:107,709,864...107,710,158 JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP
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: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 4
ClinVar Annotator: match by term: Enlarged vestibular aqueduct syndrome
ClinVar Annotator: match by term: Dilated vestibular aqueduct
DNA:mutations:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human)
ClinVar
OMIM
RGD
PMID:8285825 PMID:8541853 PMID:8630498 PMID:9070918 PMID:9398842 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: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 4
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:repeat:intron:
DNA:repeat:intron:
OMIM
ClinVar
RGD
PMID:25741868 PMID:32040566 PMID:30926972 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
EXP
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 chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
Kabuki Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC111000.4 novel transcript, antisense to UGT2B11 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,182,100...69,216,767
Ensembl chr 4:69,182,100...69,216,766
JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
JBrowse link
G AFM afamin IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,481,745...73,504,001
Ensembl chr 4:73,481,745...73,504,001
JBrowse link
G AFP alpha fetoprotein IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174
JBrowse link
G ALB albumin IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
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 AMBN ameloblastin IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288
JBrowse link
G AMTN amelotin IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,518,569...70,532,743
Ensembl chr 4:70,518,569...70,532,743
JBrowse link
G ANKRD17 ankyrin repeat domain 17 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798
JBrowse link
G ANKRD17-DT ANKRD17 divergent transcript IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,259,166...73,317,953 JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G ANXA3 annexin A3 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,551,770...78,610,447
Ensembl chr 4:78,551,747...78,610,451
JBrowse link
G AREG amphiregulin IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005
JBrowse link
G ART3 ADP-ribosyltransferase 3 (inactive) IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,011,190...76,112,786
Ensembl chr 4:76,011,184...76,114,048
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 BMP2K BMP2 inducible kinase IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,776,350...78,916,365
Ensembl chr 4:78,776,342...78,916,365
JBrowse link
G BMP3 bone morphogenetic protein 3 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:81,030,708...81,057,627
Ensembl chr 4:81,030,708...81,057,627
JBrowse link
G BTC betacellulin IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,744,759...74,794,523
Ensembl chr 4:74,744,759...74,794,523
JBrowse link
G CABS1 calcium binding protein, spermatid associated 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,334,981...70,337,116
Ensembl chr 4:70,334,981...70,337,116
JBrowse link
G CCDC158 coiled-coil domain containing 158 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,313,039...76,421,869
Ensembl chr 4:76,312,997...76,421,868
JBrowse link
G CCNG2 cyclin G2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:77,157,207...77,170,060
Ensembl chr 4:77,157,207...77,433,388
JBrowse link
G CCNI cyclin I IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:77,047,155...77,075,989
Ensembl chr 4:77,047,155...77,076,309
JBrowse link
G CDKL2 cyclin dependent kinase like 2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,576,496...75,630,528
Ensembl chr 4:75,576,496...75,630,716
JBrowse link
G CFAP299 cilia and flagella associated protein 299 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:80,321,265...80,963,750
Ensembl chr 4:80,335,730...80,963,750
JBrowse link
G CNOT6L CCR4-NOT transcription complex subunit 6 like IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:77,713,387...77,820,269
Ensembl chr 4:77,713,387...77,819,615
JBrowse link
G COX18 cytochrome c oxidase assembly factor COX18 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,052,362...73,069,759
Ensembl chr 4:73,052,362...73,069,755
JBrowse link
G CSN1S1 casein alpha s1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,931,068...69,946,574
Ensembl chr 4:69,931,068...69,946,574
JBrowse link
G CSN2 casein beta IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,955,256...69,965,728
Ensembl chr 4:69,955,256...69,965,728
JBrowse link
G CSN3 casein kappa IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,238,381...70,251,432
Ensembl chr 4:70,238,382...70,251,474
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
JBrowse link
G CXCL13 C-X-C motif chemokine ligand 13 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:77,511,753...77,611,834
Ensembl chr 4:77,511,753...77,611,834
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
G CXCL3 C-X-C motif chemokine ligand 3 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,036,589...74,038,689
Ensembl chr 4:74,036,589...74,038,807
JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G DCK deoxycytidine kinase IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,993,649...71,030,914
Ensembl chr 4:70,992,538...71,030,914
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 ENAM enamelin IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,628,744...70,646,824
Ensembl chr 4:70,628,744...70,646,824
JBrowse link
G ENOPH1 enolase-phosphatase 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:82,430,590...82,461,177
Ensembl chr 4:82,430,590...82,461,177
JBrowse link
G EPGN epithelial mitogen IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,308,470...74,316,789
Ensembl chr 4:74,308,470...74,316,789
JBrowse link
G EREG epiregulin IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,365,145...74,388,749
Ensembl chr 4:74,365,145...74,388,749
JBrowse link
G FAM47E family with sequence similarity 47 member E IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,214,040...76,283,783
Ensembl chr 4:76,214,040...76,283,783
JBrowse link
G FAM47E-STBD1 FAM47E-STBD1 readthrough IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,251,721...76,311,130
Ensembl chr 4:76,251,721...76,311,129
JBrowse link
G FDCSP follicular dendritic cell secreted protein IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,226,124...70,235,252
Ensembl chr 4:70,226,124...70,235,252
JBrowse link
G FGF5 fibroblast growth factor 5 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:80,266,588...80,291,017
Ensembl chr 4:80,266,639...80,336,680
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G G3BP2 G3BP stress granule assembly factor 2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,642,786...75,724,437
Ensembl chr 4:75,641,849...75,724,589
JBrowse link
G GC GC vitamin D binding protein IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
JBrowse link
G GK2 glycerol kinase 2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:79,406,361...79,408,228
Ensembl chr 4:79,406,361...79,408,228
JBrowse link
G GRSF1 G-rich RNA sequence binding factor 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,815,783...70,843,235
Ensembl chr 4:70,815,783...70,839,897
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 HNRNPD heterogeneous nuclear ribonucleoprotein D IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:82,352,498...82,373,991
Ensembl chr 4:82,352,498...82,374,503
JBrowse link
G HNRNPD-DT HNRNPD divergent transcript IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:82,374,309...82,384,025
Ensembl chr 4:82,374,142...82,384,027
JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462
JBrowse link
G HTN1 histatin 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,050,438...70,058,848
Ensembl chr 4:70,050,438...70,058,848
JBrowse link
G HTN3 histatin 3 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,028,459...70,036,538
Ensembl chr 4:70,028,455...70,036,538
JBrowse link
G JCHAIN joining chain of multimeric IgA and IgM IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,655,541...70,666,508
Ensembl chr 4:70,655,541...70,681,817
JBrowse link
G KDM6A lysine demethylase 6A IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:11261516 PMID:19370762 PMID:24728327 PMID:25398587 PMID:25741868 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
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20711175 PMID:21280141 More... NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G LINC00575 long intergenic non-protein coding RNA 575 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:82,613,113...82,621,437
Ensembl chr 4:82,610,974...82,621,610
JBrowse link
G LINC00989 long intergenic non-protein coding RNA 989 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:79,492,593...79,576,460
Ensembl chr 4:79,491,802...79,623,479
JBrowse link
G LINC01088 long intergenic non-protein coding RNA 1088 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,971,748...79,308,799
Ensembl chr 4:78,939,485...79,309,673
JBrowse link
G LINC01094 long intergenic non-protein coding RNA 1094 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,645,994...78,684,501
Ensembl chr 4:78,638,780...78,683,185
JBrowse link
G LINC02483 long intergenic non-protein coding RNA 2483 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,354,076...75,362,566
Ensembl chr 4:75,354,076...75,362,566
JBrowse link
G LINC02499 long intergenic non-protein coding RNA 2499 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,508,803...73,528,533
Ensembl chr 4:73,508,803...73,534,128
JBrowse link
G LINC02562 long intergenic non-protein coding RNA 2562 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,081,925...75,084,708
Ensembl chr 4:75,081,702...75,084,717
JBrowse link
G LOC111589210 FOXA motif-containing MPRA enhancer 238 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,103,076...69,103,220 JBrowse link
G LOC111591506 NFE2L2 motif-containing MPRA enhancer 290 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,301,410...76,301,554 JBrowse link
G LOC111828520 Sharpr-MPRA regulatory regions 3589 and 13401 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,531,892...74,532,226 JBrowse link
G LOC111832670 alpha fetoprotein (AFP) 5' regulatory region IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,430,193...73,436,247 JBrowse link
G LOC111832671 albumin (ALB) 5' regulatory region IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,397,685...73,404,342 JBrowse link
G LOC112978669 Sharpr-MPRA regulatory region 10246 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,832,591...69,832,885 JBrowse link
G LOC112978670 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:72977919-72979118 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:72,112,552...72,112,846 JBrowse link
G LOC112978671 Sharpr-MPRA regulatory region 11080 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,191,152...74,191,446 JBrowse link
G LOC112997534 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:77702656-77703855 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,781,936...76,782,230 JBrowse link
G LOC112997535 Sharpr-MPRA regulatory region 10702 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,862,455...78,862,749 JBrowse link
G LOC112997537 Sharpr-MPRA regulatory region 10449 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:82,531,896...82,532,190 JBrowse link
G LOC114803476 UGT2B7 (B) eExon liver enhancer IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,098,440...69,098,816 JBrowse link
G LOC114827842 VISTA enhancer hs2570 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:71,856,006...71,859,344 JBrowse link
G LOC116158494 CRISPRi-validated cis-regulatory element chr4.1813 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,056,553...74,057,496 JBrowse link
G LOC116158495 CRISPRi-validated cis-regulatory element chr4.1814 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,057,709...74,057,893 JBrowse link
G LOC116158496 CRISPRi-validated cis-regulatory element chr4.1828 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,330,487...74,330,786 JBrowse link
G LOC116158497 CRISPRi-validated cis-regulatory element chr4.1973 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,691,567...78,691,673 JBrowse link
G LOC116158498 CRISPRi-validated cis-regulatory element chr4.1974 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,691,839...78,692,517 JBrowse link
G LOC116158499 CRISPRi-validated cis-regulatory element chr4.1978 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,721,023...78,721,507 JBrowse link
G LOC116158500 CRISPRi-validated cis-regulatory element chr4.1979 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,732,500...78,733,133 JBrowse link
G LOC116158501 CRISPRi-validated cis-regulatory element chr4.2002 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:80,127,465...80,127,602 JBrowse link
G LOC116158502 CRISPRi-validated cis-regulatory element chr4.2004 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:80,143,299...80,143,719 JBrowse link
G LOC116158503 CRISPRi-validated cis-regulatory element chr4.2006 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:80,179,526...80,180,174 JBrowse link
G LOC121053184 Sharpr-MPRA regulatory region 8651 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,520,852...73,521,146 JBrowse link
G LOC121053185 Sharpr-MPRA regulatory region 6280 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,707,992...73,708,286 JBrowse link
G LOC121053186 Sharpr-MPRA regulatory region 1179 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,109,512...74,109,806 JBrowse link
G LOC121053187 Sharpr-MPRA regulatory region 1360 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,720,095...78,720,389 JBrowse link
G LOC121725172 Sharpr-MPRA regulatory region 5509 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:72,505,352...72,505,646 JBrowse link
G LOC121725173 Sharpr-MPRA regulatory region 11576 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,299,635...78,299,929 JBrowse link
G LOC121725174 Sharpr-MPRA regulatory region 9952 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:81,622,555...81,622,849 JBrowse link
G LOC121725175 Sharpr-MPRA regulatory region 4670 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:81,808,236...81,808,530 JBrowse link
G LOC123477753 Sharpr-MPRA regulatory region 109 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:68,407,871...68,408,165 JBrowse link
G LOC123477754 Sharpr-MPRA regulatory region 2882 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,914,632...70,914,926 JBrowse link
G LOC123477755 Sharpr-MPRA regulatory region 311 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:71,004,332...71,004,626 JBrowse link
G LOC123477756 Sharpr-MPRA regulatory region 13076 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,028,672...73,028,966 JBrowse link
G LOC123477757 Sharpr-MPRA regulatory region 5404 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,739,032...73,739,326 JBrowse link
G LOC123477758 Sharpr-MPRA regulatory region 12152 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,832,752...73,833,046 JBrowse link
G LOC123477759 Sharpr-MPRA regulatory region 152 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,836,652...73,836,946 JBrowse link
G LOC123477760 Sharpr-MPRA regulatory region 7725 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,095,592...74,095,886 JBrowse link
G LOC123477761 Sharpr-MPRA regulatory region 14567 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,111,092...74,111,386 JBrowse link
G LOC123477762 Sharpr-MPRA regulatory region 14582 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,623,115...74,623,409 JBrowse link
G LOC123477763 Sharpr-MPRA regulatory region 10751 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,658,171...74,658,465 JBrowse link
G LOC123477764 Sharpr-MPRA regulatory region 9565 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,118,019...75,118,313 JBrowse link
G LOC123477765 Sharpr-MPRA regulatory region 12890 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,555,799...75,556,093 JBrowse link
G LOC123477766 Sharpr-MPRA regulatory region 11706 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,885,976...75,886,270 JBrowse link
G LOC123477767 Sharpr-MPRA regulatory region 6551 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,753,916...76,754,210 JBrowse link
G LOC123477768 Sharpr-MPRA regulatory region 1185 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,506,335...78,506,629 JBrowse link
G LOC123477769 Sharpr-MPRA regulatory region 14158 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,528,975...78,529,269 JBrowse link
G LOC123477770 Sharpr-MPRA regulatory region 5843 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:79,727,595...79,727,889 JBrowse link
G LOC123477771 Sharpr-MPRA regulatory region 11700 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:80,185,055...80,185,349 JBrowse link
G LOC123477772 Sharpr-MPRA regulatory region 8336 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:81,427,535...81,427,829 JBrowse link
G LOC123477773 Sharpr-MPRA regulatory region 8782 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:82,586,736...82,587,030 JBrowse link
G LOC550113 uncharacterized LOC550113 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:68,053,508...68,073,233 JBrowse link
G MAP1B microtubule associated protein 1B IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565
JBrowse link
G MIR4450 microRNA 4450 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,573,568...76,573,632
Ensembl chr 4:76,573,568...76,573,632
JBrowse link
G MIR548AH microRNA 548ah IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,575,551...76,575,626
Ensembl chr 4:76,575,551...76,575,626
JBrowse link
G MOB1B MOB kinase activator 1B IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,901,851...70,988,168
Ensembl chr 4:70,902,326...71,022,449
JBrowse link
G MRPL1 mitochondrial ribosomal protein L1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:77,862,830...77,952,785
Ensembl chr 4:77,862,830...77,952,785
JBrowse link
G MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,114,560...74,303,099
Ensembl chr 4:74,114,174...74,303,099
JBrowse link
G MUC7 mucin 7, secreted IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,430,492...70,482,997
Ensembl chr 4:70,430,492...70,482,997
JBrowse link
G NAA11 N-alpha-acetyltransferase 11, NatA catalytic subunit IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:79,155,376...79,326,061
Ensembl chr 4:79,225,694...79,326,061
JBrowse link
G NAAA N-acylethanolamine acid amidase IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,910,655...75,941,013
Ensembl chr 4:75,913,660...75,941,013
JBrowse link
G NPFFR2 neuropeptide FF receptor 2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:72,032,000...72,148,305
Ensembl chr 4:72,031,902...72,148,305
JBrowse link
G NUP54 nucleoporin 54 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485
JBrowse link
G ODAM odontogenic, ameloblast associated IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,195,725...70,204,576
Ensembl chr 4:70,195,725...70,204,576
JBrowse link
G ODAPH odontogenesis associated phosphoprotein IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,556,066...75,565,893
Ensembl chr 4:75,556,048...75,565,871
JBrowse link
G OPRPN opiorphin prepropeptide IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,397,940...70,410,195
Ensembl chr 4:70,397,931...70,410,195
JBrowse link
G PAQR3 progestin and adipoQ receptor family member 3 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,887,076...78,939,438
Ensembl chr 4:78,887,127...78,939,438
JBrowse link
G PARM1 prostate androgen-regulated mucin-like protein 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,933,116...75,050,113
Ensembl chr 4:74,933,095...75,050,115
JBrowse link
G PARM1-AS1 PARM1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:74,955,974...74,970,362
Ensembl chr 4:74,955,974...74,970,362
JBrowse link
G PCAT4 prostate cancer associated transcript 4 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:79,827,471...79,863,247
Ensembl chr 4:79,827,471...79,877,770
JBrowse link
G PF4 platelet factor 4 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,980,811...73,982,124
Ensembl chr 4:73,980,811...73,982,027
JBrowse link
G PF4V1 platelet factor 4 variant 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,853,296...73,854,483
Ensembl chr 4:73,853,296...73,854,483
JBrowse link
G PPBP pro-platelet basic protein IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,986,439...73,988,190
Ensembl chr 4:73,986,439...73,988,190
JBrowse link
G PPEF2 protein phosphatase with EF-hand domain 2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,859,867...75,902,452
Ensembl chr 4:75,859,864...75,902,571
JBrowse link
G PRDM8 PR/SET domain 8 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:80,185,270...80,204,329
Ensembl chr 4:80,183,879...80,204,329
JBrowse link
G PRDM8-AS1 PRDM8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:80,181,264...80,191,503 JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
JBrowse link
G PRKG2-AS1 PRKG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:81,164,940...81,193,395
Ensembl chr 4:81,164,922...81,193,395
JBrowse link
G PRR27 proline rich 27 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,154,237...70,166,609
Ensembl chr 4:70,133,616...70,176,799
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 RASGEF1B RasGEF domain family member 1B IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:81,426,393...81,471,907
Ensembl chr 4:81,426,393...82,044,244
JBrowse link
G RASSF6 Ras association domain family member 6 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:73,571,550...73,620,631
Ensembl chr 4:73,571,550...73,620,631
JBrowse link
G RCHY1 ring finger and CHY zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,479,033...75,514,715
Ensembl chr 4:75,479,033...75,514,764
JBrowse link
G RUFY3 RUN and FYVE domain containing 3 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,703,767...70,808,619
Ensembl chr 4:70,704,204...70,808,619
JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
JBrowse link
G SCD5 stearoyl-CoA desaturase 5 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:82,629,539...82,798,796
Ensembl chr 4:82,629,539...82,798,796
JBrowse link
G SDAD1 SDA1 domain containing 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,949,915...75,990,945
Ensembl chr 4:75,940,950...75,990,962
JBrowse link
G SDAD1-AS1 SDAD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,980,790...76,005,942
Ensembl chr 4:75,980,790...76,005,942
JBrowse link
G SEPTIN11 septin 11 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,949,752...77,040,154
Ensembl chr 4:76,949,751...77,040,384
JBrowse link
G SHROOM3 shroom family member 3 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,435,229...76,783,253
Ensembl chr 4:76,435,229...76,783,253
JBrowse link
G SHROOM3-AS1 SHROOM3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,742,034...76,802,573 JBrowse link
G SLC4A4 solute carrier family 4 member 4 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
JBrowse link
G SMR3A submaxillary gland androgen regulated protein 3A IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,360,760...70,367,158
Ensembl chr 4:70,360,760...70,367,158
JBrowse link
G SMR3B submaxillary gland androgen regulated protein 3B IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,383,131...70,390,244
Ensembl chr 4:70,370,093...70,390,244
JBrowse link
G SNORD161 small nucleolar RNA, C/D box 161 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:78,288,985...78,289,050 JBrowse link
G SOWAHB sosondowah ankyrin repeat domain family member B IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,894,152...76,898,144
Ensembl chr 4:76,894,152...76,898,144
JBrowse link
G STATH statherin IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,995,966...70,002,570
Ensembl chr 4:69,995,966...70,002,570
JBrowse link
G STBD1 starch binding domain 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:76,306,733...76,311,130
Ensembl chr 4:76,306,733...76,311,130
JBrowse link
G SULT1B1 sulfotransferase family 1B member 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,721,167...69,760,620
Ensembl chr 4:69,721,167...69,787,961
JBrowse link
G SULT1E1 sulfotransferase family 1E member 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,821,122...69,860,145
Ensembl chr 4:69,841,212...69,860,145
JBrowse link
G THAP6 THAP domain containing 6 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,513,908...75,547,328
Ensembl chr 4:75,513,946...75,550,473
JBrowse link
G TMEM150C transmembrane protein 150C IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:82,483,176...82,562,253
Ensembl chr 4:82,483,170...82,562,357
JBrowse link
G TMPRSS11A transmembrane serine protease 11A IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:67,909,395...67,963,493
Ensembl chr 4:67,909,395...67,964,140
JBrowse link
G TMPRSS11B transmembrane serine protease 11B IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:68,226,653...68,245,694
Ensembl chr 4:68,226,653...68,245,694
JBrowse link
G TMPRSS11D transmembrane serine protease 11D IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:67,820,876...67,884,002
Ensembl chr 4:67,820,876...67,884,002
JBrowse link
G TMPRSS11E transmembrane serine protease 11E IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:68,447,463...68,497,604
Ensembl chr 4:68,447,463...68,497,604
JBrowse link
G TMPRSS11F transmembrane serine protease 11F IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:68,053,198...68,129,869
Ensembl chr 4:68,053,198...68,129,869
JBrowse link
G UGT2A1 UDP glucuronosyltransferase family 2 member A1 complex locus IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,588,417...69,653,247
Ensembl chr 4:69,588,417...69,653,249
JBrowse link
G UGT2A2 UDP glucuronosyltransferase family 2 member A2 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,588,417...69,639,642
Ensembl chr 4:69,588,417...69,639,642
JBrowse link
G UGT2A3 UDP glucuronosyltransferase family 2 member A3 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:68,928,463...68,951,804
Ensembl chr 4:68,928,463...68,951,804
JBrowse link
G UGT2B10 UDP glucuronosyltransferase family 2 member B10 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:68,815,994...68,832,023
Ensembl chr 4:68,815,994...68,832,023
JBrowse link
G UGT2B11 UDP glucuronosyltransferase family 2 member B11 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,199,951...69,224,984
Ensembl chr 4:69,199,951...69,214,748
JBrowse link
G UGT2B15 UDP glucuronosyltransferase family 2 member B15 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:68,646,597...68,670,652
Ensembl chr 4:68,646,597...68,670,652
JBrowse link
G UGT2B17 UDP glucuronosyltransferase family 2 member B17 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:68,537,173...68,576,322
Ensembl chr 4:68,537,173...68,576,413
JBrowse link
G UGT2B28 UDP glucuronosyltransferase family 2 member B28 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,280,475...69,295,050
Ensembl chr 4:69,280,475...69,295,050
JBrowse link
G UGT2B4 UDP glucuronosyltransferase family 2 member B4 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,480,165...69,526,014
Ensembl chr 4:69,480,165...69,526,014
JBrowse link
G UGT2B7 UDP glucuronosyltransferase family 2 member B7 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:69,051,375...69,112,987
Ensembl chr 4:69,051,363...69,112,987
JBrowse link
G USO1 USO1 vesicle transport factor IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:75,724,577...75,814,286
Ensembl chr 4:75,724,577...75,814,286
JBrowse link
G UTP3 UTP3 small subunit processome component IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:70,688,532...70,690,551
Ensembl chr 4:70,688,532...70,690,551
JBrowse link
G YTHDC1 YTH domain containing 1 IAGP ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 4:68,310,387...68,350,090
Ensembl chr 4:68,310,387...68,350,090
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:25972376 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:25972376 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:25972376 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
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 MAOA monoamine oxidase A IAGP ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 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:25972376 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:25972376 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: Ménière's disease ClinVar PMID:25305078 NCBI chr 2:70,295,976...70,302,067
Ensembl chr 2:70,295,975...70,302,090
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:22135276 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: Ménière's disease
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 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...115,118,257
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22115
    sensory system disease 7185
      auditory system disease 1271
        inner ear disease 982
          vestibular disease 246
            Bilateral Vestibulopathy + 2
            Kabuki syndrome + 208
            Vertigo + 20
            enlarged vestibular aqueduct + 8
Path 2
Term Annotations click to browse term
  disease 22115
    disease of anatomical entity 20683
      nervous system disease 16563
        sensory system disease 7185
          Otorhinolaryngologic Diseases 1918
            auditory system disease 1271
              inner ear disease 982
                vestibular disease 246
                  Bilateral Vestibulopathy + 2
                  Kabuki syndrome + 208
                  Vertigo + 20
                  enlarged vestibular aqueduct + 8
paths to the root