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
Accession: DOID:0060473
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
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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
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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 PMID:12482968 PMID:14608645 PMID:14699623 PMID:16199547 PMID:16603732 PMID:17576681 PMID:18414213 PMID:19625956 PMID:20711175 PMID:21280141 PMID:21607748 PMID:21658225 PMID:21671394 PMID:22126750 PMID:22304445 PMID:22740433 PMID:22786791 PMID:23320472 PMID:23757202 PMID:23913813 PMID:24033266 PMID:24311525 PMID:24633898 PMID:24728327 PMID:24739679 PMID:25142838 PMID:25281733 PMID:25741868 PMID:25755104 PMID:25896430 PMID:25972376 PMID:26049589 PMID:26194542 PMID:26300940 PMID:26467025 PMID:26512256 PMID:26785492 PMID:26898171 PMID:26938784 PMID:27257180 PMID:27302555 PMID:27353043 PMID:27568880 PMID:27573763 PMID:27620904 PMID:27778401 PMID:27991736 PMID:28256057 PMID:28295206 PMID:28475860 PMID:28492532 PMID:28884889 PMID:28884922 PMID:28973083 PMID:29168297 PMID:29255178 PMID:29304373 PMID:29321794 PMID:29450879 PMID:29453417 PMID:29536651 PMID:29725259 PMID:29846842 PMID:29907798 PMID:30107592 PMID:30143558 PMID:30459467 PMID:30578106 PMID:30950893 PMID:31363182 PMID:31624253 PMID:31654559 PMID:31727177 PMID:31883305 PMID:31935506 PMID:31949313 PMID:31981491 PMID:32037394 PMID:32124548 PMID:32135276 PMID:32170002 PMID:32441320 PMID:32803813 PMID:33084842 PMID:33794347 PMID:36672956 PMID:24633898 PMID:26300940 More...
RGD:9588235 , RGD:155582217
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Kdm6a
lysine demethylase 6A
ISO
ClinVar Annotator: match by term: Kabuki syndrome 1
ClinVar
PMID:11261516 PMID:19370762 PMID:23076834 PMID:23913813 PMID:24728327 PMID:25398587 PMID:25741868 PMID:27302555 PMID:28492532 PMID:29758562 More...
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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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
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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
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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 PMID:18414213 PMID:19625956 PMID:20711175 PMID:21280141 PMID:21607748 PMID:21658225 PMID:21671394 PMID:21766738 PMID:22126750 PMID:22434255 PMID:22786791 PMID:23320472 PMID:23757202 PMID:23913813 PMID:24033266 PMID:24633898 PMID:24728327 PMID:24739679 PMID:24759409 PMID:25142838 PMID:25281733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25755104 PMID:25896430 PMID:25972376 PMID:26300940 PMID:26467025 PMID:26512256 PMID:26785492 PMID:26938784 PMID:27257180 PMID:27302555 PMID:27353043 PMID:27573763 PMID:27620904 PMID:28256057 PMID:28295206 PMID:28475860 PMID:28492532 PMID:28884922 PMID:28973083 PMID:29089047 PMID:29168297 PMID:29255178 PMID:29300383 PMID:29304373 PMID:29389947 PMID:29450879 PMID:29453417 PMID:30107592 PMID:30143558 PMID:30459467 PMID:30950893 PMID:31282990 PMID:31395954 PMID:31624253 PMID:31727177 PMID:31846209 PMID:31883305 PMID:31949313 PMID:32037394 PMID:32083401 PMID:32135276 PMID:32803813 PMID:36672956 More...
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:28492532 More...
NCBI chr X:4,488,021...4,488,877
Ensembl chr X:4,488,021...4,488,877
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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 PMID:28492532 More...
NCBI chr X:5,360,499...5,564,004
Ensembl chr X:5,360,617...5,560,970
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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 PMID:28492532 More...
NCBI chr X:5,083,635...5,100,293
Ensembl chr X:5,083,617...5,100,284
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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 PMID:19370762 PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:24527667 PMID:24664873 PMID:24728327 PMID:24759409 PMID:25326635 PMID:25326637 PMID:25398587 PMID:25741868 PMID:25972376 PMID:26467025 PMID:26633542 PMID:27302555 PMID:27777708 PMID:28492532 PMID:28708303 PMID:29300383 PMID:29302074 PMID:29758562 PMID:30107592 PMID:31883305 PMID:36672956 More...
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Maoa
monoamine oxidase A
ISO
ClinVar Annotator: match by term: Kabuki syndrome 2
ClinVar
PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 PMID:28492532 More...
NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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Maob
monoamine oxidase B
ISO
ClinVar Annotator: match by term: Kabuki syndrome 2
ClinVar
PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 PMID:28492532 More...
NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003
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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
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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
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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 PMID:28492532 More...
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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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
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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
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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
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