DONSON, downstream neighbor of SON, 29980

N. diseases: 55; N. variants: 13
Disease: Severe Congenital Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		0.300 Biomarker disease CTD_human Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. 28191891 2017