CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: nervous system disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 GeneticVariation group BEFREE Loss of function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe neurological disorder known as an Unverricht-Lundborg disease (EPM1). 15780491 2005
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 GeneticVariation group BEFREE Loss-of-function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe neurological disorder known as Unverricht-Lundborg disease (EPM1). 9806543 1998