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GENE - TERM ANNOTATION REPORT

RGD ID: 13982325
Species: Sus scrofa
RGD Object: Gene
Symbol: TNNT3
Name: troponin T3, fast skeletal type
Acc ID: DOID:0080954
Term: arthrogryposis multiplex congenita
Definition: A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. (DO)
Definition Source(s): https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis "DO" "DO", https://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/arthrogryposis-multiplex-congenita "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)
TNNT3 ISOTNNT3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndromePMID:25741868 PMID:28492532
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