SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Disease: Early myoclonic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.010 GeneticVariation disease BEFREE Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1. 25779878 2015