NKAP, NFKB activating protein, 79576

N. diseases: 15; N. variants: 0
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. 31587868 2019