CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: cerebellar function ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0742034
Disease: cerebellar function
cerebellar function 		0.010 Biomarker disease BEFREE We propose that a cystatin B multiprotein complex has a specific cerebellar function and that the loss of this function might contribute to the disease in EPM1 patients. 12393805 2002