NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Disease: May-White Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015