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GENE - TERM ANNOTATION REPORT

RGD ID: 8817241
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Ndufs7
Name: NADH:ubiquinone oxidoreductase core subunit S7
Acc ID: DOID:0050798
Term: cerebral creatine deficiency syndrome
Definition: An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (DO)
Definition Source(s): MIM:300352 "DO" "DO", PMID:17603797 "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)
Ndufs7 ISONDUFS7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral creatine deficiency syndromePMID:11978605 PMID:12468279 PMID:15108290 PMID:20301745 PMID:25741868 PMID:28492532
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