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: branched-chain keto acid dehydrogenase kinase deficiency
Accession: DOID:0090126
browse the term
Definition: An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. (DO)
Synonyms: exact_synonym: BCKDK deficiency; BCKDKD; autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
primary_id: MIM:614923
xref: ORDO:308410
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Armc5
armadillo repeat containing 5
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907
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Bckdk
branched chain ketoacid dehydrogenase kinase
ISO IAGP ISS
DNA:missense mutation:cds:G369E (rat) OMIM:614923 ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
OMIM MouseDO ClinVar RGD
PMID:9536098 PMID:17576681 PMID:22956686 PMID:25741868 PMID:26467025 PMID:28492532 PMID:36729635 PMID:27472223 More...
RGD:39131293
NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
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Bcl7c
BAF chromatin remodeling complex subunit BCL7C
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163
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Cfap119
cilia and flagella associated protein 119
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,197,171...182,216,936
Ensembl chr 1:182,192,947...182,202,338
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Cox6a2
cytochrome c oxidase subunit 6A2
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,788,528...182,790,746
Ensembl chr 1:182,788,528...182,789,274
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Ctf1
cardiotrophin 1
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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Fbrs
fibrosin
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,090,741...182,104,026
Ensembl chr 1:182,089,844...182,103,828
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Fbxl19
F-box and leucine-rich repeat protein 19
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083
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Fus
Fus RNA binding protein
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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Hsd3b7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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Itgad
integrin subunit alpha D
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,759,762...182,788,422
Ensembl chr 1:182,759,740...182,788,161
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Itgam
integrin subunit alpha M
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Itgax
integrin subunit alpha X
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,709,653...182,740,709
Ensembl chr 1:182,719,609...182,740,698
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Kat8
lysine acetyltransferase 8
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
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Orai3
ORAI calcium release-activated calcium modulator 3
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,381,196...182,386,055
Ensembl chr 1:182,344,293...182,386,052
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Phkg2
phosphorylase kinase catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,184,362...182,197,124
Ensembl chr 1:182,184,650...182,197,124
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Prr14
proline rich 14
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,083,838...182,089,330
Ensembl chr 1:182,084,126...182,089,317
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Prss36
serine protease 36
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,543,085...182,561,141
Ensembl chr 1:182,543,085...182,559,280
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Prss53
serine protease 53
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,494,944...182,501,607
Ensembl chr 1:182,494,955...182,500,115
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Prss8
serine protease 8
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
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Pycard
PYD and CARD domain containing
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
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Rnf40
ring finger protein 40
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,202,475...182,217,899
Ensembl chr 1:182,202,600...182,217,241
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Rusf1
RUS family member 1
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,852,257...182,881,652
Ensembl chr 1:182,852,262...182,880,732
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Setd1a
SET domain containing 1A, histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090
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Slc5a2
solute carrier family 5 member 2
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306
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Srcap
Snf2-related CREBBP activator protein
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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Stx1b
syntaxin 1B
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280
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Stx4
syntaxin 4
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,451,108...182,459,701
Ensembl chr 1:182,451,117...182,459,979
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Tgfb1i1
transforming growth factor beta 1 induced transcript 1
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,828,553...182,835,465
Ensembl chr 1:182,828,544...182,837,080
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Trim72
tripartite motif containing 72
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,613,753...182,621,613
Ensembl chr 1:182,613,712...182,621,606
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Vkorc1
vitamin K epoxide reductase complex, subunit 1
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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Zfp629
zinc finger protein 629
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,217,499...182,258,585
Ensembl chr 1:182,210,935...182,230,016
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Zfp646
zinc finger protein 646
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,485,009...182,494,961
Ensembl chr 1:182,485,949...182,494,731
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Zfp668
zinc finger protein 668
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
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Zfp688
zinc finger protein 688
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,039,366...182,043,035
Ensembl chr 1:182,039,931...182,043,103
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Zfp689
zinc finger protein 689
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,065,885...182,074,343
Ensembl chr 1:182,065,826...182,076,679
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Zfp764l1
zinc finger protein 764 like 1
ISO
ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
ClinVar
PMID:25741868
NCBI chr 1:182,003,282...182,005,886
Ensembl chr 1:182,003,282...182,005,886
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