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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.030 GeneticVariation disease BEFREE We conclude that the CTSD position 224 polymorphism alone is not a significant risk or disease-modifying factor in sporadic or genetic CJD. 19571726 2010
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		0.020 GeneticVariation disease BEFREE We conclude that the CTSD position 224 polymorphism alone is not a significant risk or disease-modifying factor in sporadic or genetic CJD. 19571726 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 AlteredExpression disease BEFREE We conclude that cathepsin D gene expression is regulated differently by sex steroid hormones in endometrial and breast cancer cell lines, whereas it is similarly induced by EGF in these cells. 2612733 1989
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 AlteredExpression disease BEFREE We conclude that cathepsin D gene expression is regulated differently by sex steroid hormones in endometrial and breast cancer cell lines, whereas it is similarly induced by EGF in these cells. 2612733 1989
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 AlteredExpression disease LHGDN We conclude that 7-20 hours after MI, plasma cathepsin D is significantly elevated and most of the active enzymatic activity is circulating as plasma metabolites. 15739123 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE We applied the approach to the exploration of ligands for β-site amyloid precursor protein [APP]-cleaving enzyme 1 (BACE1), a major target for Alzheimer Disease (AD), with less off-target effect toward cathepsin D. We demonstrated that the density region of BACE1 and cathepsin D ligands are well-divided, and a group of natural compounds as a target for exploration of new drug candidates also has significantly different distribution on the density map. 31815371 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 GeneticVariation phenotype BEFREE We also explored common targets of OS/OB and metastasis groups, including amidophosphoribosyltransferase (PPAT), l-lactate dehydrogenase B chain (LDHB), and pyruvate kinase M2 (PKM2) as well as the common target of all categories, cathepsin D (CTSD). 28203090 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE We also conclude that non-specific inhibition of aspartic proteases, including cathepsin D, may promote adverse CNS effects, and may not be safe as AD therapeutics. 29454581 2018
CUI: C1561921
Disease: Non-ST elevation (NSTEMI) myocardial infarction
Non-ST elevation (NSTEMI) myocardial infarction 		0.010 AlteredExpression disease BEFREE We aimed to investigate the association of serum cathepsin D levels with in-hospital mortality and Syntax scores (SXscore) in non-ST elevation myocardial infarction (NSTEMI) patients. 29033510 2017
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 Biomarker disease BEFREE VPS52 induces apoptosis via cathepsin D in gastric cancer. 28791438 2017
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE VPS52 induces apoptosis via cathepsin D in gastric cancer. 28791438 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 GeneticVariation disease BEFREE Variants of the apolipoprotein E and cathepsin D genes influenced the risk of AD in relatives of nondemented control subjects. 15211070 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Validated assays in the primary tumor of molecular markers such as ER, HER2-Neu and cathepsin D should help to predict which targeted therapy should be applied to cure breast cancer patients. 12790787 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 Biomarker disease BEFREE Validated assays in the primary tumor of molecular markers such as ER, HER2-Neu and cathepsin D should help to predict which targeted therapy should be applied to cure breast cancer patients. 12790787 2003
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 Biomarker disease BEFREE Using immunohistochemistry we investigated the expression of the transcription factor EB (TFEB) which orchestrates lysosomal biogenesis, the lysosome membrane protein LAMP2a and of the lysosomal hydrolase cathepsin D in a series of 98 non-small cell lung carcinomas (NSCLC) treated with surgery alone. 26264650 2015
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.010 Biomarker disease BEFREE Using a hyperlipidemic murine model for non-alcoholic steatohepatitis (NASH), we have previously demonstrated that the lysosomal protease cathepsin D (CTSD) is involved with lipid dysregulation and inflammation. 31060228 2019
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.010 GeneticVariation disease BEFREE Using a hyperlipidemic murine model for non-alcoholic steatohepatitis (NASH), we have previously demonstrated that the lysosomal protease cathepsin D (CTSD) is involved with lipid dysregulation and inflammation. 31060228 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 Biomarker disease BEFREE Upregulated caveolin-1, filamin A, and cathepsin D combined with increased macrophagocytes and downregulated GSTM1 may be potential biomarkers and targets in the irreversibility CHD-PAH, and which may be useful in evaluating the operability and understanding the irreversibility of CHD-PAH. 29480151 2019
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 GermlineCausalMutation disease ORPHANET Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 GeneticVariation disease UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Treatment with E-64 or CA074Me (2 specific inhibitors of cathepsin B) or with pepstatin A (a specific inhibitor of cathepsin D) was cytotoxic for 2 neuroblastoma cell lines having different degrees of malignancy. 11857353 2002
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE Treatment with E-64 or CA074Me (2 specific inhibitors of cathepsin B) or with pepstatin A (a specific inhibitor of cathepsin D) was cytotoxic for 2 neuroblastoma cell lines having different degrees of malignancy. 11857353 2002
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.040 Biomarker disease BEFREE Treatment with E-64 or CA074Me (2 specific inhibitors of cathepsin B) or with pepstatin A (a specific inhibitor of cathepsin D) was cytotoxic for 2 neuroblastoma cell lines having different degrees of malignancy. 11857353 2002
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.040 Biomarker disease BEFREE Treatment with E-64 or CA074Me (2 specific inhibitors of cathepsin B) or with pepstatin A (a specific inhibitor of cathepsin D) was cytotoxic for 2 neuroblastoma cell lines having different degrees of malignancy. 11857353 2002
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.040 Biomarker disease BEFREE Treatment with E-64 or CA074Me (2 specific inhibitors of cathepsin B) or with pepstatin A (a specific inhibitor of cathepsin D) was cytotoxic for 2 neuroblastoma cell lines having different degrees of malignancy. 11857353 2002