CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Adult Neuronal Ceroid Lipofuscinosis
0.200 Biomarker disease MGD Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice. 12676526 2003
Adult Neuronal Ceroid Lipofuscinosis
0.200 Biomarker disease MGD Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice. 11567042 2001
Adult Neuronal Ceroid Lipofuscinosis
0.200 Biomarker disease MGD Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. 10995834 2000
Adult Neuronal Ceroid Lipofuscinosis
0.200 Biomarker disease MGD Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation. 9539769 1998
Adult Neuronal Ceroid Lipofuscinosis
0.200 Biomarker disease MGD Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells. 7641679 1995