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GENE - TERM ANNOTATION REPORT

RGD ID: 18926284
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Tnnt1
Name: troponin T1, slow skeletal type
Acc ID: DOID:3191
Term: nemaline myopathy
Definition: A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Nemaline_myopathy "DO" "DO", http://ghr.nlm.nih.gov/condition/nemaline-myopathy "DO" "DO", https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract "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)
Tnnt1 ISOTNNT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nemaline Myopathy, RecessivePMID:24033266 PMID:25741868 PMID:28492532
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