SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 AlteredExpression group LHGDN These observations indicate that calpain is activated and reacts with alpha-fodrin as a substrate at the sarcolemma, and plays a key role in modulating sarcolemmal proteins to adapt to the specific conditions in each myopathy. 15948206 2005