NCL, nucleolin, 4691

N. diseases: 167; N. variants: 4
Disease: Low Vision ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042798
Disease: Low Vision
Low Vision 		0.020 Biomarker disease BEFREE Mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis (LINCL), and teenage and adult onset NCL without visual impairment. 30528883 2019
CUI: C0042798
Disease: Low Vision
Low Vision 		0.020 GeneticVariation disease BEFREE Mutations in as many as 13 genes give rise to ∼10 variants of NCL, all with overlapping clinical symptomatology including visual impairment, motor and cognitive dysfunction, seizures, and premature death. 24223841 2013