NUP214, nucleoporin 214, 8021

N. diseases: 62; N. variants: 16
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker disease GENOMICS_ENGLAND NUP214 deficiency causes severe encephalopathy and microcephaly in humans. 30758658 2019