CLN6, CLN6 transmembrane ER protein, 54982

N. diseases: 59; N. variants: 46
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.010 GeneticVariation phenotype BEFREE The CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurodegenerative disease that features blindness, seizures, and cognitive decline, maps to 15q21-23. 11791207 2002