Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Neuronal Ceroid Lipofuscinosis
0.820 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Juvenile Neuronal Ceroid Lipofuscinosis
0.820 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
0.820 GeneticVariation UNIPROT 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
0.820 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744 2012
Juvenile Neuronal Ceroid Lipofuscinosis
0.820 GeneticVariation BEFREE We have analysed the intracellular processing and localization of two mutants, 461-677del, which is present in 85% of CLN3 alleles and causes the classical JNCL, and E295K [corrected], which is a rare missense mutation associated with an atypical form of JNCL. 10332042 1999
Juvenile Neuronal Ceroid Lipofuscinosis
0.820 GeneticVariation BEFREE Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299 1998
Juvenile Neuronal Ceroid Lipofuscinosis
0.820 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299 1998
Juvenile Neuronal Ceroid Lipofuscinosis
0.820 GeneticVariation UNIPROT Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997
Juvenile Neuronal Ceroid Lipofuscinosis
0.820 CausalMutation CLINVAR