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GENE - TERM ANNOTATION REPORT

CRRD ID: 18497526
Species: Chlorocebus sabaeus
CRRD Object: Gene
Symbol: TIMM50
Name: translocase of inner mitochondrial membrane 50
Acc ID: DOID:630
Term: genetic disease
Definition: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Definition Source(s): MESH:D030342, http://ghr.nlm.nih.gov/
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)
TIMM50 ISSRGD:16061939068941ClinVarClinVar Annotator: match by term: Inborn genetic diseases

PMID:11114504, PMID:12191765, PMID:12437924, PMID:12437925, PMID:14517234, PMID:15044455, PMID:16008839, PMID:16055927, PMID:16763150, PMID:17435247, PMID:19111522, PMID:27573165
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.