Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776892
rs587776892
G 0.700 CausalMutation CLINVAR Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 22978711

2013

dbSNP: rs587776892
rs587776892
G 0.700 CausalMutation CLINVAR 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

dbSNP: rs587776892
rs587776892
G 0.700 CausalMutation CLINVAR Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. 22902780

2012

dbSNP: rs587776892
rs587776892
G 0.700 CausalMutation CLINVAR Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 21820099

2011

dbSNP: rs587776892
rs587776892
G 0.700 CausalMutation CLINVAR Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 22073189

2011