Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907043
rs387907043
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
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
dbSNP: rs387907043
rs387907043
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
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
dbSNP: rs387907043
rs387907043
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
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
dbSNP: rs387907043
rs387907043
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
CUI: C1834207
Disease:
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.800 GeneticVariation UNIPROT Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 22978711 2013
dbSNP: rs387907043
rs387907043
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
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
dbSNP: rs387907043
rs387907043
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
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
dbSNP: rs387907043
rs387907043
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
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
dbSNP: rs387907043
rs387907043
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
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
dbSNP: rs387907043
rs387907043
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
CUI: C1834207
Disease:
Ceroid Lipofuscinosis, Neuronal, Parry Type 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587776892
rs587776892
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		G 0.700 CausalMutation CLINVAR Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 22978711 2013
dbSNP: rs587776892
rs587776892
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		G 0.700 CausalMutation CLINVAR Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 22073189 2011
dbSNP: rs587776892
rs587776892
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		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
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		G 0.700 CausalMutation CLINVAR Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. 22902780 2012
dbSNP: rs587776892
rs587776892
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
CUI: C1834207
Disease:
Ceroid Lipofuscinosis, Neuronal, Parry Type 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587776892
rs587776892
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		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