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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:Kabuki syndrome
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Accession:DOID:0060473 term browser browse the term
Definition:A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (DO)
Synonyms:exact_synonym: KMS;   Kabuki make up syndrome;   Kabuki makeup syndrome;   Niikawa-Kuroki syndrome
 primary_id: MESH:C537705
 xref: GARD:6810;   NCI:C124837;   OMIM:PS147920;   ORDO:2322


show annotations for term's descendants           Sort by:
Kabuki syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm6a lysine demethylase 6A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome
DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:2071175 PMID:3067577 PMID:3913813 PMID:9285441 PMID:9536098 More... RGD:9588235, RGD:155582217 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
Kabuki Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:18,231,051...18,437,773
Ensembl chr14:18,231,165...18,435,556 		JBrowse link
G Afm afamin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,531,026...17,563,868
Ensembl chr14:17,531,024...17,563,870 		JBrowse link
G Afp alpha-fetoprotein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480 		JBrowse link
G Alb albumin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750 		JBrowse link
G Ambn ameloblastin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,601,761...19,614,382
Ensembl chr14:19,601,702...19,614,393 		JBrowse link
G Amtn amelotin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181 		JBrowse link
G Ankrd17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,723,239...17,862,625
Ensembl chr14:17,721,932...17,862,617 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Anxa3 annexin A3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,727,708...12,781,717
Ensembl chr14:12,719,795...12,781,617 		JBrowse link
G Areg amphiregulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535 		JBrowse link
G Art3 ADP-ribosyltransferase 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,637,230...15,719,442
Ensembl chr14:15,637,237...15,665,407 		JBrowse link
G Bmp2k BMP-2 inducible kinase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,481,194...12,579,411
Ensembl chr14:12,484,729...12,579,134 		JBrowse link
G Bmp3 bone morphogenetic protein 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:10,712,489...10,737,153
Ensembl chr14:10,712,489...10,737,153 		JBrowse link
G Btc betacellulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049 		JBrowse link
G Cabs1 calcium binding protein, spermatid associated 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,096,962...20,099,024
Ensembl chr14:20,096,899...20,099,181 		JBrowse link
G Ccdc158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,411,178...15,468,579
Ensembl chr14:15,411,163...15,468,581 		JBrowse link
G Ccng2 cyclin G2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:14,804,321...14,812,819
Ensembl chr14:14,804,322...14,812,830 		JBrowse link
G Ccni cyclin I ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:14,879,698...14,902,510
Ensembl chr14:14,879,717...14,902,510 		JBrowse link
G Cdkl2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,027,381...16,063,257
Ensembl chr14:16,028,363...16,063,252 		JBrowse link
G Cfap299 cilia and flagella associated protein 299 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:10,787,191...11,272,894
Ensembl chr14:10,787,203...11,272,943 		JBrowse link
G Cnot6l CCR4-NOT transcription complex, subunit 6-like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:13,410,501...13,502,511
Ensembl chr14:13,411,281...13,498,203 		JBrowse link
G Cox18 cytochrome c oxidase assembly factor COX18 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,864,581...17,877,483
Ensembl chr14:17,865,857...17,877,480 		JBrowse link
G Csn1s1 casein alpha s1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,343,620...20,359,614
Ensembl chr14:20,343,619...20,359,614 		JBrowse link
G Csn2 casein beta ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,322,581...20,329,818
Ensembl chr14:20,322,581...20,329,817 		JBrowse link
G Csn3 casein kappa ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,154,032...20,160,585
Ensembl chr14:20,154,032...20,160,587 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271 		JBrowse link
G Cxcl13 C-X-C motif chemokine ligand 13 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:13,608,894...13,613,965
Ensembl chr14:13,608,902...13,613,933 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,270,146...17,289,458
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Dck deoxycytidine kinase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,305,218...19,326,247
Ensembl chr14:19,305,218...19,326,247 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Enam enamelin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425 		JBrowse link
G Enoph1 enolase-phosphatase 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:9,531,336...9,557,797
Ensembl chr14:9,531,339...9,569,273 		JBrowse link
G Epgn epithelial mitogen ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,076,774...17,084,806
Ensembl chr14:17,076,774...17,084,806 		JBrowse link
G Ereg epiregulin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062 		JBrowse link
G Fam47e family with sequence similarity 47, member E ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,485,537...15,521,599
Ensembl chr14:15,485,127...15,521,775 		JBrowse link
G Fdcsp follicular dendritic cell secreted protein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,169,691...20,173,983
Ensembl chr14:20,169,691...20,173,983 		JBrowse link
G Fgf5 fibroblast growth factor 5 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:11,325,334...11,346,570
Ensembl chr14:11,325,334...11,345,997 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G G3bp2 G3BP stress granule assembly factor 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,932,356...16,020,555
Ensembl chr14:15,987,417...16,020,548 		JBrowse link
G Gc GC, vitamin D binding protein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Gk2 glycerol kinase 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,107,071...12,108,923
Ensembl chr14:12,107,020...12,128,473 		JBrowse link
G Grsf1 G-rich RNA sequence binding factor 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,412,944...19,429,364
Ensembl chr14:19,412,156...19,429,362 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Hnrnpd heterogeneous nuclear ribonucleoprotein D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:9,615,375...9,638,975
Ensembl chr14:9,615,479...9,633,786 		JBrowse link
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:9,558,079...9,563,654
Ensembl chr14:9,557,425...9,562,506 		JBrowse link
G Jchain joining chain of multimeric IgA and IgM ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,538,560...19,546,384
Ensembl chr14:19,538,952...19,546,298 		JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:11261516 PMID:19370762 PMID:23076834 PMID:23913813 PMID:24728327 More... NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 OMIM
ClinVar		 PMID:2071175 PMID:3913813 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317 		JBrowse link
G Mcpt1l2 mast cell protease 1-like 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 Ensembl chr15:29,810,447...29,812,719 JBrowse link
G Mob1b MOB kinase activator 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,333,058...19,365,845
Ensembl chr14:19,332,459...19,365,845 		JBrowse link
G Mrpl1 mitochondrial ribosomal protein L1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:13,300,522...13,359,654
Ensembl chr14:13,300,522...13,359,721 		JBrowse link
G Mthfd2l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,089,947...17,170,036
Ensembl chr14:17,089,952...17,170,112 		JBrowse link
G Naa11 N(alpha)-acetyltransferase 11, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,183,651...12,193,687
Ensembl chr14:12,183,651...12,193,686 		JBrowse link
G Naaa N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,777,306...15,796,411
Ensembl chr14:15,777,306...15,796,410 		JBrowse link
G Npffr2 neuropeptide FF receptor 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:18,513,277...18,521,919
Ensembl chr14:18,513,277...18,521,919 		JBrowse link
G Nup54 nucleoporin 54 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,617,630...15,636,029
Ensembl chr14:15,617,679...15,636,028 		JBrowse link
G Odam odontogenic, ameloblast associated ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,193,286...20,202,517
Ensembl chr14:20,193,302...20,202,517 		JBrowse link
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,071,835...16,084,210
Ensembl chr14:16,073,058...16,080,129 		JBrowse link
G Oprpn opiorphin prepropeptide ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,702,535...19,717,550
Ensembl chr14:19,702,535...19,717,550 		JBrowse link
G Paqr3 progestin and adipoQ receptor family member 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:12,462,568...12,484,999
Ensembl chr14:12,462,563...12,479,994 		JBrowse link
G Parm1 prostate androgen-regulated mucin-like protein 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,468,309...16,577,339
Ensembl chr14:16,468,459...16,577,314 		JBrowse link
G Pf4 platelet factor 4 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,298,438...17,299,148
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
G Ppbp pro-platelet basic protein ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130 		JBrowse link
G Ppef2 protein phosphatase with EF-hand domain 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,797,435...15,831,614
Ensembl chr14:15,797,435...15,831,491 		JBrowse link
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:11,403,202...11,424,059
Ensembl chr14:11,404,407...11,410,993 		JBrowse link
G Prkg2 protein kinase cGMP-dependent 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888 		JBrowse link
G Prr27 proline rich 27 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,232,757...20,248,617
Ensembl chr14:20,232,758...20,248,595 		JBrowse link
G Ptcd1 pentatricopeptide repeat domain 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:20818383 PMID:25741868 NCBI chr12:9,445,656...9,463,508
Ensembl chr12:9,445,714...9,463,508 		JBrowse link
G Rasgef1b RasGEF domain family, member 1B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:9,859,512...10,380,044
Ensembl chr14:9,860,247...10,379,741 		JBrowse link
G Rassf6 Ras association domain family member 6 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:17,433,328...17,473,565
Ensembl chr14:17,442,789...17,473,330 		JBrowse link
G Rchy1 ring finger and CHY zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,113,263...16,129,017
Ensembl chr14:16,113,224...16,129,167 		JBrowse link
G RGD1559459 similar to Expressed sequence AI788959 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,146,140...21,167,706
Ensembl chr14:21,145,827...21,167,704 		JBrowse link
G Rufy3 RUN and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,431,530...19,506,531
Ensembl chr14:19,432,524...19,507,004 		JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813 		JBrowse link
G Sdad1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,741,489...15,768,270
Ensembl chr14:15,741,434...15,771,066 		JBrowse link
G Septin11 septin 11 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:14,844,759...14,990,856
Ensembl chr14:14,844,580...14,990,853 		JBrowse link
G Shroom3 shroom family member 3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,099,415...15,396,832
Ensembl chr14:15,099,423...15,396,915 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883 		JBrowse link
G Smr3a submaxillary gland androgen regulated protein 3A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,053,779...20,059,568
Ensembl chr14:20,053,779...20,059,568 		JBrowse link
G Smr3b submaxillary gland androgen regulated protein 3B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,783,815...19,788,557
Ensembl chr14:19,783,816...19,788,492 		JBrowse link
G Sowahb sosondowah ankyrin repeat domain family member B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,029,155...15,033,589
Ensembl chr14:15,029,395...15,031,698 		JBrowse link
G Stath statherin ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,307,324...20,311,182
Ensembl chr14:20,307,324...20,311,182 		JBrowse link
G Stbd1 starch binding domain 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,470,452...15,473,857
Ensembl chr14:15,469,582...15,477,443 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164 		JBrowse link
G Sult1b1 sulfotransferase family 1B member 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,492,763...20,505,491
Ensembl chr14:20,492,708...20,505,483 		JBrowse link
G Sult1e1 sulfotransferase family 1E member 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,422,324...20,439,562
Ensembl chr14:20,422,324...20,439,275 		JBrowse link
G Thap6 THAP domain containing 6 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:16,092,919...16,113,528
Ensembl chr14:16,101,312...16,113,448 		JBrowse link
G Tmem150c transmembrane protein 150C ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:9,454,999...9,525,300
Ensembl chr14:9,508,515...9,525,298 		JBrowse link
G Tmprss11a transmembrane serine protease 11A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,624,881...21,665,284
Ensembl chr14:21,606,547...21,665,279 		JBrowse link
G Tmprss11b transmembrane serine protease 11B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,385,924...21,405,894
Ensembl chr14:21,383,862...21,408,817 		JBrowse link
G Tmprss11d transmembrane serine protease 11D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,707,336...21,769,398
Ensembl chr14:21,707,336...21,769,396 		JBrowse link
G Tmprss11e transmembrane serine protease 11E ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,296,127...21,328,203
Ensembl chr14:21,282,823...21,327,184 		JBrowse link
G Tmprss11f transmembrane serine protease 11F ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,492,896...21,534,792
Ensembl chr14:21,429,418...21,534,809 		JBrowse link
G Ugt2a1 UDP glucuronosyltransferase family 2 member A1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,521,018...20,545,060
Ensembl chr14:20,517,951...20,545,531 		JBrowse link
G Ugt2a3 UDP glucuronosyltransferase family 2 member A3 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,572,825...20,590,295
Ensembl chr14:20,572,808...20,590,729 		JBrowse link
G Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,024,035...21,035,784
Ensembl chr14:21,024,006...21,035,986 		JBrowse link
G Ugt2b7 UDP glucuronosyltransferase family 2 member B7 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:20,896,682...20,919,604
Ensembl chr14:20,896,682...20,919,604 		JBrowse link
G Uso1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:15,866,638...15,932,185
Ensembl chr14:15,866,638...15,932,171 		JBrowse link
G Utp3 UTP3, small subunit processome component ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:19,515,716...19,517,370
Ensembl chr14:19,515,669...19,517,396 		JBrowse link
G Ythdc1 YTH N6-methyladenosine RNA binding protein C1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 NCBI chr14:21,185,438...21,215,934
Ensembl chr14:21,185,440...21,216,028 		JBrowse link
G Zbtb24 zinc finger and BTB domain containing 24 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr20:44,943,302...44,965,329
Ensembl chr20:44,947,297...44,963,963 		JBrowse link
Kabuki Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst7 carbohydrate sulfotransferase 7 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:2,396,260...2,432,828
Ensembl chr  X:2,393,874...2,432,840 		JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:4,205,486...4,274,939
Ensembl chr  X:4,205,490...4,271,574 		JBrowse link
G Dusp21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:4,488,021...4,488,877
Ensembl chr  X:4,488,021...4,488,877 		JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:5,360,499...5,564,004
Ensembl chr  X:5,360,617...5,560,970 		JBrowse link
G Fundc1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:5,083,635...5,100,293
Ensembl chr  X:5,083,617...5,100,284 		JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki Syndrome - 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:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Mir221 microRNA 221 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573 		JBrowse link
G Mir222 microRNA 222 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012 		JBrowse link
G Zfp455l1 zinc finger protein 455 like 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr 1:34,866,934...34,944,939
Ensembl chr 1:34,927,303...34,944,121 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Kabuki syndrome 123
        Kabuki Syndrome 1 110
        Kabuki Syndrome 2 14
Path 2
Term Annotations click to browse term
  disease 21086
    Pathological Conditions, Signs and Symptoms 13268
      Signs and Symptoms 10704
        Neurologic Manifestations 9942
          sensory system disease 6847
            Otorhinolaryngologic Diseases 1778
              auditory system disease 1040
                inner ear disease 726
                  vestibular disease 157
                    Kabuki syndrome 123
                      Kabuki Syndrome 1 110
                      Kabuki Syndrome 2 14
paths to the root