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GENE - TERM ANNOTATION REPORT

RGD ID: 1308614
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Aldh7a1
Name: aldehyde dehydrogenase 7 family, member A1
Acc ID: DOID:0080768
Term: pyridoxine-dependent epilepsy
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)
Definition Source(s): https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/ "DO" "DO", https://rarediseases.org/rare-diseases/pyridoxine-dependent-epilepsy/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Aldh7a1 ISOALDH7A1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:28087462
Aldh7a1 ISOALDH7A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyridoxine dependency with seizures | ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy | ClinVar Annotator: match by term: Vitamin B6-dependent seizuresPMID:16159904 PMID:16199547 PMID:16491085 PMID:17068770 PMID:17088338 PMID:17433748 PMID:17576681 PMID:17721876 PMID:18414213 PMID:18717709 PMID:19128417 PMID:19142996 PMID:19294602 PMID:20207735 PMID:20301659 PMID:20370816 PMID:20554659 PMID:20814824 PMID:21733724 PMID:22305855 PMID:22371912 PMID:22529283 PMID:22728861 PMID:22784480 PMID:23022070 PMID:23054014 PMID:23350806 PMID:23430810 PMID:23683770 PMID:23916709 PMID:23925287 PMID:23953072 PMID:24033266 PMID:24122892 PMID:24184718 PMID:24613284 PMID:24664088 PMID:24664145 PMID:24748525 PMID:24789515 PMID:24848745 PMID:24942048 PMID:25123644 PMID:25326637 PMID:25640679 PMID:25741868 PMID:25741913 PMID:25741914 PMID:25741916 PMID:25969726 PMID:26026794 PMID:26101365 PMID:26224730 PMID:26232297 PMID:26467025 PMID:26544041 PMID:26555630 PMID:26891797 PMID:26995068 PMID:27186704 PMID:27324284 PMID:27438048 PMID:28087462 PMID:28131559 PMID:28492532 PMID:28962114 PMID:29045138 PMID:29056246 PMID:29286531 PMID:29547829 PMID:29655203 PMID:29720203 PMID:29852413 PMID:29933521 PMID:30043187 PMID:31302938 PMID:31440721 PMID:31564432 PMID:31737911 PMID:31965297 PMID:32395249 PMID:32685344 PMID:33528079 PMID:33822359 PMID:33868381 PMID:34495967 PMID:34570182 PMID:34926809 PMID:9536098
Aldh7a1 ISSAldh7a1 (Mus musculus)13592920MouseDOOMIM:266100 
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