Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.300 Biomarker GENOMICS_ENGLAND NUP214 deficiency causes severe encephalopathy and microcephaly in humans. 30758658

2019