Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:pyridoxine-dependent epilepsy
go back to main search page
Accession:DOID:0080768 term browser browse the term
Definition:An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. (DO)
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
 alt_id: OMIM:266100
 xref: GARD:9298;   ORDO:3006
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
pyridoxine-dependent epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy | ClinVar Annotator: match by term: Vitamin B6-dependent seizures
OMIM
CTD
ClinVar
PMID:9536098 PMID:16159904 PMID:16199547 PMID:16491085 PMID:17068770 More... NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
JBrowse link
G Ctxn3 cortexin 3 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:28492532 NCBI chr18:50,930,244...50,940,642
Ensembl chr18:50,930,235...50,940,641
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:28492532 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Vitamin B6-dependent seizures ClinVar PMID:25741868 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:16491085 PMID:20554659 PMID:28492532 NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
JBrowse link
G LOC100174910 glutaredoxin-like protein ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:28492532 NCBI chr18:50,424,079...50,442,172
Ensembl chr18:50,424,079...50,441,973
JBrowse link
G Marchf3 membrane associated ring-CH-type finger 3 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:28492532 NCBI chr18:50,237,218...50,389,343
Ensembl chr18:50,237,230...50,389,150
JBrowse link
G Megf10 multiple EGF-like domains 10 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:28492532 NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:16491085 PMID:20554659 PMID:28492532 NCBI chr18:50,053,133...50,069,823
Ensembl chr18:50,053,023...50,069,823
JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:16575835 PMID:25741868 PMID:28492532 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
G Prrc1 proline-rich coiled-coil 1 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:28492532 NCBI chr18:50,812,548...50,846,273
Ensembl chr18:50,812,552...50,849,476
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:28492532 NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
JBrowse link
G Tex43 testis expressed 43 ISO ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy ClinVar PMID:16491085 PMID:20554659 PMID:28492532 NCBI chr18:50,070,610...50,073,942
Ensembl chr18:50,070,610...50,073,942
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            epilepsy 2644
              pyridoxine-dependent epilepsy 17
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                pyridoxine-dependent epilepsy 17
paths to the root