rs387907043, DNAJC5

N. diseases: 3
Disease: Adult Neuronal Ceroid Lipofuscinosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult Neuronal Ceroid Lipofuscinosis
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
0.010 GeneticVariation BEFREE Mutations in CSPα (i.e., Leu115 to Arg substitution or deletion (Δ) of Leu116) cause adult neuronal ceroid lipofuscinosis (ANCL), a dominantly inherited neurodegenerative disease. 25905915 2015