Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ceroid Lipofuscinosis, Neuronal, Parry Type
0.800 GeneticVariation UNIPROT Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 22978711 2013
Ceroid Lipofuscinosis, Neuronal, Parry Type
0.800 GeneticVariation UNIPROT Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. 22235333 2012
Ceroid Lipofuscinosis, Neuronal, Parry Type
0.800 GeneticVariation UNIPROT Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. 22902780 2012
Ceroid Lipofuscinosis, Neuronal, Parry Type
0.800 GeneticVariation UNIPROT Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 21820099 2011
Ceroid Lipofuscinosis, Neuronal, Parry Type
0.800 GeneticVariation UNIPROT Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 22073189 2011
Ceroid Lipofuscinosis, Neuronal, Parry Type
0.800 CausalMutation CLINVAR