Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907043
rs387907043
DNAJC5
0.800 GeneticVariation UNIPROT Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 22978711

2013
dbSNP: rs387907043
rs387907043
DNAJC5
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
dbSNP: rs387907043
rs387907043
DNAJC5
0.800 GeneticVariation UNIPROT Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. 22902780

2012
dbSNP: rs387907043
rs387907043
DNAJC5
0.800 GeneticVariation UNIPROT Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 21820099

2011
dbSNP: rs387907043
rs387907043
DNAJC5
0.800 GeneticVariation UNIPROT Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 22073189

2011
dbSNP: rs387907043
rs387907043
DNAJC5
G 0.800 CausalMutation CLINVAR

dbSNP: rs587776892
rs587776892
DNAJC5
G 0.700 CausalMutation CLINVAR