Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Adult Neuronal Ceroid Lipofuscinosis
0.500 Biomarker disease MGD Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. 18343701 2008
Adult Neuronal Ceroid Lipofuscinosis
0.500 Biomarker disease MGD A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. 15483130 2004
Adult Neuronal Ceroid Lipofuscinosis
0.500 Biomarker disease CTD_human Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. 11589009 2001
Adult Neuronal Ceroid Lipofuscinosis
0.500 Biomarker disease CTD_human Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. 10320038 1999