SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
Disease: Progressive cerebellar ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.110 GeneticVariation disease BEFREE How these mutations give rise to progressive ataxia and what the precise role beta-III spectrin plays in normal cerebellar physiology are unknown. 20371805 2010
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.110 Biomarker disease HPO