ONTOLOGY REPORT - ANNOTATIONS


Term:Pyridoxine-Dependent Epilepsy
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Accession:DOID:9006341 term browser browse the term
Synonyms:exact_synonym: Aasa Dehydrogenase Deficiency;   EPD;   PDE;   Pyridoxine dependency;   Pyridoxine dependency with seizures;   Pyridoxine-Dependent Seizures;   Vitamin B6-Dependent Seizures
 primary_id: MESH:C536254;   RDO:0001756
 alt_id: OMIM:266100
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Pyridoxine-Dependent Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 JBrowse link 18 51,619,007 51,651,267 RGD:7240710
RGD:8554872
RGD:11554173
G Gad1 glutamate decarboxylase 1 JBrowse link 3 56,861,440 56,902,139 RGD:8554872
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:8554872
G Plpbp pyridoxal phosphate binding protein JBrowse link 16 69,164,654 69,176,245 RGD:11554173
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872

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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            epilepsy 1017
              Pyridoxine-Dependent Epilepsy 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.