rs386833701, CLN3

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Neuronal Ceroid Lipofuscinosis
0.700 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Juvenile Neuronal Ceroid Lipofuscinosis
0.700 GeneticVariation CLINVAR Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. 14699076 2004