rs76992529, TTR

N. diseases: 36
Disease: Inclusion Body Myositis (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Inclusion Body Myositis (disorder)
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
0.010 GeneticVariation BEFREE Cultured muscle fibers (CMF) from a patient with inclusion-body myositis (IBM) and cardiac amyloidosis associated with the transthyretin (TTR) Val122Ile mutation contained aspects of the IBM phenotype: vacuolation, congophilic inclusions, and clusters of immunocolocalizing amyloid beta-peptide (Abeta) and TTR accumulations. 12874414 2003