Disease: Neuronal Ceroid Lipofuscinosis Type 4B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4284284
Disease: Neuronal Ceroid Lipofuscinosis Type 4B
Neuronal Ceroid Lipofuscinosis Type 4B 		0.320 Biomarker disease BEFREE DNAJC5, which encodes the cysteine string protein (CSPα), a presynaptic protein implicated in neurodegeneration, causes autosomal dominant Kufs disease. 22978711 2013
CUI: C4284284
Disease: Neuronal Ceroid Lipofuscinosis Type 4B
Neuronal Ceroid Lipofuscinosis Type 4B 		0.320 Biomarker disease GENOMICS_ENGLAND Our study confirmed the recently reported association of DNAJC5 mutations with ADKD in two out of nine well-defined families. 22235333 2012
CUI: C4284284
Disease: Neuronal Ceroid Lipofuscinosis Type 4B
Neuronal Ceroid Lipofuscinosis Type 4B 		0.320 GeneticVariation disease BEFREE Our study confirmed the recently reported association of DNAJC5 mutations with ADKD in two out of nine well-defined families. 22235333 2012