Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 GeneticVariation disease BEFREE Deficiency in Cathepsin D (CtsD), the major cellular lysosomal aspartic proteinase, causes the congenital form of neuronal ceroid lipofuscinoses (NCLs). 20489146 2010
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 GeneticVariation disease BEFREE To date, 10 NCL entities (CLN1-CLN10) are known and characterized by accumulation of autofluorescent storage material, age of onset and clinical symptoms. 19807737 2010
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease BEFREE In Grn(-/-) mice the lysosomal proteins cathepsin D (CTSD), LAMP (lysosomal-associated membrane protein) 1 and the NCL storage components saposin D and subunit c of mitochondrial ATP synthase (SCMAS) were all found to be elevated. 24619111 2014
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 GeneticVariation disease BEFREE Remaining neurons, astrocytes and macrophages contained PAS-positive storage material with granular ultrastructure and immunoreactivity against sphingolipid activator protein D. A diagnosis of congenital NCL was rendered with a novel mutation, c.299C > T (p.Ser100Phe) in exon 3 of the cathepsin D gene. 18762956 2009
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease MGD Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice. 11567042 2001
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease MGD Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. 10995834 2000
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 GeneticVariation disease BEFREE Five types of NCL are caused by mutations in lysosomal proteins (CTSD, CLN1/PPT1, CLN2/TTPI, CLN3 and CLN5), and one type is caused by mutations in a protein that recycles between the ER and ERGIC (CLN8). 15265688 2004
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease BEFREE CTSD is the gene encoding Cathepsin D (CTSD), a lysosomal protein hydrolase, and homozygous CTSD deficiency results in neuronal ceroid-lipofuscinosis, which is characterized by the early onset, progressive neurodegeneration. 26448324 2015
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 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
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease BEFREE This functional relationship between PGRN and cathepsin D provides a possible explanation for overlapping NCL-like pathology observed in patients with mutations in PGRN or CTSD, the gene encoding cathepsin D. Together, our work identifies PGRN as an activator of lysosomal cathepsin D activity, and suggests that decreased cathepsin D activity due to loss of PGRN contributes to both FTD and NCL pathology in a dose-dependent manner. 29036611 2017
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 GeneticVariation disease BEFREE Neuroectoderm-specific deletion of cathepsin D in mice models human inherited neuronal ceroid lipofuscinosis type 10. 26232697 2016
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 GeneticVariation disease BEFREE In mice and humans CTSD dysfunction underlies the congenital variant (CLN10) of neuronal ceroid lipofuscinosis (NCL). 31282275 2020
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 AlteredExpression disease BEFREE Mutation that abolishes CD enzymatic activity causes neuronal ceroid lipofuscinosis (NCL) characterized by severe neurodegeneration, developmental regression, visual loss and epilepsy in both animals and humans. 18396408 2008
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 AlteredExpression disease BEFREE Mutations that abolish the CD enzymatic activity have been implicated in neural ceroid lipofuscinosis. 19807669 2009
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease BEFREE Neurologic phenotypes of cathepsin D (CTSD)-deficient mice, a murine model of neuronal ceroid lipofuscinoses, indicate the importance of CTSD for the maintenance of metabolism in central nervous system neurons. 28502476 2017
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease BEFREE Herein, we review CD deficiency in the broader context of NCL and offer potential mechanisms for neuron death and neurodegeneration induced by CD deficiency. 17495518 2007
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease MGD Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice. 12676526 2003
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease BEFREE Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined. 20680390 2011
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease BEFREE Mutations in two additional genes cause disease in animal models that share features with NCL-CTSD in sheep and mice and PPT2 in mice. 15965709 2005
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease BEFREE Mutations in genes encoding three lysosomal enzymes are the causes for three early-onset forms of NCLs: palmitoyl-protein thioesterase 1 (PPT1) is deficient in human infantile NCL, tripeptidyl peptidase 1 (TTP1) in late-infantile NCL, and cathepsin D in congenital ovine NCL. 11001810 2000
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
0.300 Biomarker disease MGD Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation. 9539769 1998