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ONTOLOGY REPORT - ANNOTATIONS


Term:branched-chain keto acid dehydrogenase kinase deficiency
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Accession:DOID:0090126 term browser browse the term
Definition:An autosomal recessive disease 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: OMIM:614923
 alt_id: RDO:9000201
 xref: ORDO:308410
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branched-chain keto acid dehydrogenase kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc5 armadillo repeat containing 5 JBrowse link 1 199,655,069 199,662,419 RGD:8554872
G Bckdk branched chain ketoacid dehydrogenase kinase JBrowse link 1 199,351,628 199,356,299 RGD:7240710
RGD:8554872
G Bcl7c BAF chromatin remodeling complex subunit BCL7C JBrowse link 1 199,112,192 199,159,125 RGD:8554872
G Ccdc189 coiled-coil domain containing 189 JBrowse link 1 199,032,105 199,037,267 RGD:8554872
G Cox6a2 cytochrome c oxidase subunit 6A2 JBrowse link 1 199,624,037 199,626,255 RGD:8554872
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:8554872
G Fbrs fibrosin JBrowse link 1 198,925,265 198,938,939 RGD:8554872
G Fbxl19 F-box and leucine-rich repeat protein 19 JBrowse link 1 199,196,126 199,217,147 RGD:8554872
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:8554872
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 JBrowse link 1 199,248,084 199,251,745 RGD:8554872
G Itgad integrin subunit alpha D JBrowse link 1 199,595,968 199,623,931 RGD:8554872
G Itgam integrin subunit alpha M JBrowse link 1 199,495,312 199,545,738 RGD:8554872
G Itgax integrin subunit alpha X JBrowse link 1 199,555,560 199,576,948 RGD:8554872
G Kat8 lysine acetyltransferase 8 JBrowse link 1 199,360,645 199,372,925 RGD:8554872
G LOC102555635 zinc finger protein 39-like JBrowse link 10 45,193,771 45,211,045 RGD:8554872
G Orai3 ORAI calcium release-activated calcium modulator 3 JBrowse link 1 199,217,504 199,222,363 RGD:8554872
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 1 199,019,298 199,032,053 RGD:8554872
G Prr14 proline rich 14 JBrowse link 1 198,910,994 198,915,473 RGD:8554872
G Prss36 serine protease 36 JBrowse link 1 199,379,374 199,396,339 RGD:8554872
G Prss53 serine protease 53 JBrowse link 1 199,331,108 199,337,129 RGD:8554872
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:8554872
G Pycard PYD and CARD domain containing JBrowse link 1 199,438,029 199,439,062 RGD:8554872
G RGD1310127 similar to cDNA sequence BC017158 JBrowse link 1 199,687,775 199,716,205 RGD:8554872
G Rnf40 ring finger protein 40 JBrowse link 1 199,037,472 199,052,823 RGD:8554872
G Setd1a SET domain containing 1A, histone lysine methyltransferase JBrowse link 1 199,222,584 199,247,993 RGD:8554872
G Slc5a2 solute carrier family 5 member 2 JBrowse link 1 199,682,688 199,688,809 RGD:8554872
G Srcap Snf2-related CREBBP activator protein JBrowse link 1 198,957,764 199,007,576 RGD:8554872
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:8554872
G Stx4 syntaxin 4 JBrowse link 1 199,287,384 199,295,606 RGD:8554872
G Tgfb1i1 transforming growth factor beta 1 induced transcript 1 JBrowse link 1 199,664,039 199,670,970 RGD:8554872
G Trim72 tripartite motif containing 72 JBrowse link 1 199,450,042 199,457,902 RGD:8554872
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:8554872
G Zfp629 zinc finger protein 629 JBrowse link 1 199,052,430 199,065,639 RGD:8554872
G Zfp646 zinc finger protein 646 JBrowse link 1 199,321,354 199,331,256 RGD:8554872
G Zfp668 zinc finger protein 668 JBrowse link 1 199,310,935 199,321,231 RGD:8554872
G Zfp688 zinc finger protein 688 JBrowse link 1 198,865,950 198,869,068 RGD:8554872
G Zfp689 zinc finger protein 689 JBrowse link 1 198,894,000 198,900,364 RGD:8554872
G Zfp764 zinc finger protein 764 JBrowse link 1 198,834,995 198,839,251 RGD:8554872

Term paths to the root
Path 1
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  disease 15599
    Developmental Diseases 8726
      Neurodevelopmental Disorders 4052
        intellectual disability 1687
          branched-chain keto acid dehydrogenase kinase deficiency 38
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            disease of mental health 5500
              Neurodevelopmental Disorders 4052
                Pervasive Child Development Disorders 1703
                  autism spectrum disorder 1700
                    autistic disorder 1551
                      branched-chain keto acid dehydrogenase kinase deficiency 38
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.