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GENE - TERM ANNOTATION REPORT

RGD ID: 69330
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Echs1
Name: enoyl-CoA hydratase, short chain 1
Acc ID: DOID:0070540
Term: mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Definition: A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/25125611/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK542806/ "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)
Echs1 ISOECHS1 (Homo sapiens)7240710OMIM  
Echs1 ISOECHS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ECHS1-related condition | ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiencyPMID:17576681 PMID:25125611 PMID:25393721 PMID:25741868 PMID:26000322 PMID:26081110 PMID:26099313 PMID:26251176 PMID:26467025 PMID:26920905 PMID:26938784 PMID:27090768 PMID:27905109 PMID:28039521 PMID:28202214 PMID:28409271 PMID:28429146 PMID:28492532 PMID:29575569 PMID:30008475 PMID:30029642 PMID:30634555 PMID:31016024 PMID:31216405 PMID:31219693 PMID:32013919 PMID:32313153 PMID:32642440 PMID:32677093 PMID:32677908 PMID:32858208 PMID:32901917 PMID:33112498 PMID:33139125 PMID:33163364 PMID:33258288 PMID:34611884 PMID:35094435 PMID:35856138 PMID:36200804 PMID:37377599 PMID:9536098
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