Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 GeneticVariation disease UNIPROT Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 22978711 2013
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 GermlineCausalMutation disease ORPHANET Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 22978711 2013
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 GermlineCausalMutation disease ORPHANET 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
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 GeneticVariation disease 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
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 Biomarker disease GENOMICS_ENGLAND 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
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 GeneticVariation disease UNIPROT Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. 22902780 2012
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 21820099 2011
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 Biomarker disease GENOMICS_ENGLAND Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 22073189 2011
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 21820099 2011
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 GermlineCausalMutation disease ORPHANET Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 21820099 2011
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 GeneticVariation disease UNIPROT Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 22073189 2011
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 GeneticVariation disease UNIPROT Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 21820099 2011
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		0.700 CausalMutation disease CLINVAR