Gene Term Annotation Report - Rat Genome Database

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GENE - TERM ANNOTATION REPORT

RGD ID:	1304699
Species:	Rattus norvegicus
RGD Object:	Gene
Symbol:	Naxe
Name:	NAD(P)HX epimerase

Acc ID:	DOID:9006901
Term:	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy
Definition:	This disease is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions.
Definition Source(s):	EFO:0009158

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 Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
Naxe		ISO	NAXE (Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445

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