SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
Disease: Neurodegenerative Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.030 GeneticVariation group BEFREE Spinocerebellar ataxia type 5 (SCA5) is a human neurodegenerative disease that stems from mutations in the SPTBN2 gene encoding the protein β-III-spectrin. 26883385 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.030 GeneticVariation group BEFREE This review summarizes data showing that β-III spectrin mutations are a novel cause of neurodegenerative disease, which may affect the stabilization or trafficking of membrane proteins. 21827906 2012
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.030 GeneticVariation group BEFREE Mutations in SPTBN2, the gene encoding beta-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor coordination. 20371805 2010