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GENE - TERM ANNOTATION REPORT

RGD ID: 8968662
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Kcne3
Name: potassium voltage-gated channel subfamily E regulatory subunit 3
Acc ID: DOID:9007560
Term: Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
Definition: A severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. (OMIM)
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)
Kcne3 ISOKCNE3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCYPMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 PMID:16449802 PMID:17395131 PMID:19306396 PMID:22987075 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28747690
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