SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
Disease: Congenital cerebellar ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia 		0.010 GeneticVariation disease BEFREE Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. 31066025 2019