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 1
Accession: DOID:9001255
browse the term
Synonyms: exact_synonym: KABUK1
broad_synonym: KMT2D-RELATED CONDITION; KMT2D-RELATED DISORDERS
primary_id: OMIM:147920
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Alg1
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ISO
ClinVar Annotator: match by term: Kabuki syndrome 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750
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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 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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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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Kdm6a
lysine demethylase 6A
ISO
ClinVar Annotator: match by term: KMT2D-related condition | 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 8:45,116,763...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: KMT2D-related condition | 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:22740433 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:27530205 PMID:27573763 PMID:27620904 PMID:28256057 PMID:28295206 PMID:28475860 PMID:28492532 PMID:28884922 PMID:28973083 PMID:29089047 PMID:29168297 PMID:29255178 PMID:29283410 PMID:29300383 PMID:29304373 PMID:29389947 PMID:29450879 PMID:29453417 PMID:29725259 PMID:30107592 PMID:30143558 PMID:30266093 PMID:30287924 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:32170002 PMID:32371413 PMID:32441320 PMID:32803813 PMID:34232366 PMID:35060672 PMID:35904121 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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Ptcd1
pentatricopeptide repeat domain 1
ISO
ClinVar Annotator: match by term: Kabuki syndrome 1
ClinVar
PMID:20818383 PMID:25741868
NCBI chr12:9,445,656...9,463,434
Ensembl chr12:9,445,714...9,463,508
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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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