TNNI2, troponin I2, fast skeletal type, 7136

N. diseases: 64; N. variants: 4
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.310 Biomarker group CTD_human Biomarkers of drug-induced skeletal muscle injury in the rat: troponin I and myoglobin. 19628585 2009
CUI: C0026848
Disease: Myopathy
Myopathy 		0.310 GeneticVariation group BEFREE To describe a three-generation family with distal arthrogryposis associated with myopathy and caused by a mutation in the gene encoding for sarcomeric thin filament protein troponin I, TNNI2. 16924011 2006