Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
0.200 Biomarker disease MGD ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. 15504734 2005
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
0.200 Biomarker disease MGD CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. 12059962 2003
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
0.200 Biomarker disease MGD These results indicated that the neurodegeneration observed in the Clcn3-/- mice was caused by an abnormality in the machinery which degrades the cellular protein and was associated with the phenotype of neuronal ceroid lipofuscinosis (NCL). 12059962 2003