rs387907043, DNAJC5

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ceroid Lipofuscinosis, Neuronal, Parry Type
CUI: C1834207
Disease: 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
CUI: C1834207
Disease: 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
CUI: C1834207
Disease: 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
CUI: C1834207
Disease: 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
CUI: C1834207
Disease: 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
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
0.800 CausalMutation CLINVAR
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.020 GeneticVariation BEFREE Mutations in CSPα (i.e., Leu115 to Arg substitution or deletion (Δ) of Leu116) cause adult neuronal ceroid lipofuscinosis (ANCL), a dominantly inherited neurodegenerative disease. 25905915 2015
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.020 GeneticVariation BEFREE Here we demonstrate that L115R and ΔL116 mutant proteins are mistargeted in neuroendocrine cells and form SDS-resistant aggregates, concordant with the properties of other mutant proteins linked to neurodegenerative disorders. 22902780 2012
Adult Neuronal Ceroid Lipofuscinosis
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
0.010 GeneticVariation BEFREE Mutations in CSPα (i.e., Leu115 to Arg substitution or deletion (Δ) of Leu116) cause adult neuronal ceroid lipofuscinosis (ANCL), a dominantly inherited neurodegenerative disease. 25905915 2015