Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 GeneticVariation disease BEFREE In humans, CSPα mutations are associated with the development of neuronal ceroid lipofuscinosis (NCL), a neurodegenerative disease characterized by intracellular accumulation of lysosomal material. 28239331 2017
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 Biomarker disease BEFREE 14 different genes have been linked to NCLs (CLN1-CLN14), but the functions of the proteins encoded by the majority of these genes have not been fully elucidated. 28442266 2017
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 GeneticVariation disease BEFREE Recently, mutations in the DNAJC5/CLN4 gene, which encodes the presynaptic co-chaperone CSPα were shown to cause autosomal-dominant NCL. 26659577 2016
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 GeneticVariation disease BEFREE Caenorhabditis elegans dnj-14, the orthologue of the DNAJC5 gene mutated in adult onset neuronal ceroid lipofuscinosis, provides a new platform for neuroprotective drug screening and identifies a SIR-2.1-independent action of resveratrol. 24947438 2014
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 GeneticVariation disease BEFREE Mutations or overexpression of the wild type form of α-synuclein have been related to Parkinson's disease, and CSPα mutations cause one type of neuronal ceroid lipofuscinosis. 24036317 2014
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 CausalMutation disease CLINVAR Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 22978711 2013
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 GeneticVariation disease BEFREE We propose that this palmitoylation-induced aggregation of mutant CSPα proteins may underlie the development of adult-onset neuronal ceroid lipofuscinosis in affected families. 22902780 2012
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 CausalMutation disease 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
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 CausalMutation disease CLINVAR Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. 22902780 2012
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 CausalMutation disease CLINVAR Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 22073189 2011
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 CausalMutation disease CLINVAR Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 21820099 2011
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 Biomarker disease BEFREE It also confirms a neuroprotective role for CSPα in humans and demonstrates the need for detailed investigation of CSPα in the neuronal ceroid lipofuscinoses and other neurodegenerative diseases presenting with neuronal protein aggregation. 21820099 2011
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 GeneticVariation disease BEFREE Gene(s) associated with the adult form of NCLs (CLN4) are at present unknown. 11332767 2001