SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
Disease: Niemann-Pick Disease, Type C1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		0.010 AlteredExpression disease BEFREE Western blot revealed reduced EAAT1, EAAT2, EAAT4, and βIII-spectrin levels in NPC1<sup>-/-</sup>mice. 29463856 2018