Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | RGD:736556 | 8554872 | ClinVar Annotator: match by term: Autistic disorder | ClinVar | PMID:21681106, PMID:30208311 | developmental and epileptic encephalopathy 2 | | ISO | RGD:736556 | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar | PMID:18076117 more ... | genetic disease | | ISO | RGD:736556 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10679936 more ... | Leigh Syndrome, X-Linked | | ISO | RGD:736556 | 8554872 | ClinVar Annotator: match by term: X-linked Leigh syndrome | ClinVar | PMID:10679936 more ... | Neurodevelopmental Disorders | | ISO | RGD:736556 | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | pyruvate decarboxylase deficiency | | ISO | RGD:736556 | 8554872 | ClinVar more ... | ClinVar | PMID:10679936 more ... | Pyruvate Dehydrogenase E1 Alpha Deficiency | | ISO | RGD:736556 | 8554872 | ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency | ClinVar | PMID:10486093 more ... | sudden infant death syndrome | | ISO | RGD:736556 | 8554872 | ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar | PMID:25741868 more ... | syndromic X-linked intellectual disability Lubs type | | ISO | RGD:736556 | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | visual epilepsy | | ISO | RGD:736556 | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868, PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | The pyruvate dehydrogenase complex: cloning of the rat somatic E1 alpha subunit and its coordinate expression with the mRNAs for the E1 beta, E2, and E3 catalytic subunits in developing rat brain. | Cullingford TE, etal., J Neurochem 1994 May;62(5):1682-90. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 4. | KEGG: Kyoto Encyclopedia of Genes and Genomes | KEGG |
| 5. | Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. | Lissens W, etal., Hum Mutat 2000;15(3):209-19. |
| 6. | Pretranslational regulation of pyruvate dehydrogenase complex subunits in white adipose tissue during the suckling-weaning transition in the rat. | Maury J, etal., Biochem J. 1995 Oct 15;311 ( Pt 2):531-5. |
| 7. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 8. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 9. | An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1a. | Ojano-Dirain C, etal., Mol Genet Metab. 2010 Oct-Nov;101(2-3):183-91. doi: 10.1016/j.ymgme.2010.07.008. Epub 2010 Jul 15. |
| 10. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 11. | Regulation of mammalian pyruvate dehydrogenase complex by phosphorylation: complexity of multiple phosphorylation sites and kinases. | Patel MS and Korotchkina LG, Exp Mol Med. 2001 Dec 31;33(4):191-7. |
| 12. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 13. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 14. | Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. | Quintana E, etal., Clin Genet. 2010 May;77(5):474-82. doi: 10.1111/j.1399-0004.2009.01313.x. Epub 2009 Dec 10. |
| 15. | GOA pipeline | RGD automated data pipeline |
| 16. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 17. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 18. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
Additional References at PubMed
| PMID:2025639 | PMID:11708858 | PMID:14651853 | PMID:16641100 | PMID:17634366 | PMID:18586888 | PMID:18614015 | PMID:19081061 | PMID:19429050 | PMID:20833797 | PMID:21630459 | PMID:22809973 |
| PMID:26503465 | PMID:27871875 | PMID:28376086 | PMID:29476059 |
Genomics
