Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker BEFREE We developed a mouse lacking full-length beta-III spectrin and found that homozygous mice reproduced features of SCA5 including gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning). 20371805

2010
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker HPO