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: C3665386
Disease: Abnormal vision
Abnormal vision 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.010 Biomarker disease BEFREE Coronary vasoconstriction and thrombosis induced by the released mediators namely histamine, chymase, tryptase, cathepsin D, leukotrienes, thromboxane and platelet activating factor (PAF) can result to further myocardial damage and anaphylaxis associated acute coronary syndrome, the so-called Kounis syndrome. 30306071 2018
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis 		0.010 Biomarker disease BEFREE Association evaluation by Fisher's exact test (p < 0.01) revealed statistically significant SNPs in multiple genes, not only in inflammatory mediators (IL6ST and PTGDS, associated with aggressive periodontitis; and CTSD, associated with severe chronic periodontitis), but also in structural factors of periodontal tissues (COL4A1, COL1A1, and KRT23, associated with aggressive periodontitis; and HSPG2, COL17A1, and EGF, associated with severe chronic periodontitis). 15081423 2004
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.050 Biomarker group BEFREE Cathepsin D-positive (IHC score ≥2+) tumors were more poorly differentiated than cathepsin D-negative ones, while all lepidic predominant invasive adenocarcinomas showed no cathepsin D expression. 22824147 2012
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.050 Biomarker group BEFREE The higher PR and catD concentrations in diffuse adenocarcinomas, and the overexpression of TAG-72 in the intestinal type, support the existence of two modes of gastric carcinogenesis. 10619912 1999
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.050 AlteredExpression group BEFREE Overexpression of TFEB, LAMP2a and Cathepsin D was noted in 47/98 (47.9%), 43/98 (43.9%) and 39/98 (39.8%) cases, respectively, and were significantly correlated with each other and with adenocarcinomas. 26264650 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.050 Biomarker group BEFREE Lipofuscin pigment was found in 17 (31%) of 60 prostatic adenocarcinomas as random, sparse, fine, yellow-brown intracytoplasmic granules staining positive for cathepsin D and negative for S-100 protein. 16979516 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.050 Biomarker group LHGDN Proteomic screening of a cell line model of esophageal carcinogenesis identifies cathepsin D and aldo-keto reductase 1C2 and 1B10 dysregulation in Barrett's esophagus and esophageal adenocarcinoma. 18396902 2008
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 AlteredExpression disease BEFREE When compared with normal epithelium of NERD patients, (i) cathepsin D mRNA levels demonstrated a stepwise increase in expression (p<0.05) in erosive, metaplastic and EA tissue; (ii) AKR1B10 expression increased (p<0.05) 3- and 9-fold in erosive and Barrett's epithelium, respectively; and (iii) AKR1C2 levels increased (p<0.05) in erosive and Barrett's epithelium, but were reduced (p<0.05) in EA. 18396902 2008
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.020 AlteredExpression disease BEFREE Cathepsin D expression was more frequent in TTF-1-negative than in TTF-1-positive ADs (P=0.034), and more frequent in ADs with EGFR wild genotype than mutant EGFR (P<0.001). 22824147 2012
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.020 Biomarker disease BEFREE Further, integrated in silico analysis of microarray repository data of lung adenocarcinoma clinical samples and cell lines containing KRAS mutations showed positive mRNA fold changes (p < 0.05) for 61% of the KRAS-regulated proteins, including biomarker proteins, CA2 and CTSD. 22761399 2012
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.010 Biomarker disease BEFREE Finally, enhanced expression of proteolytic enzymes such as cathepsin D and the 72-kD form of collagenase IV by dysplastic cells may represent an integral event in the development of invasive PCa. 8875196 1996
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.020 Biomarker disease LHGDN [The expression of cathepsin-D in salivary adenoid cystic carcinoma]. 11780226 2000
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.020 Biomarker disease BEFREE Overexpression Cathepsin D Contributes to Perineural Invasion of Salivary Adenoid Cystic Carcinoma. 30430081 2018
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
Adult Anaplastic Astrocytoma 		0.010 AlteredExpression disease BEFREE The results of real-time quantitative reverse transcription-PCR analysis showed that cathepsin D transcript levels became significantly higher as the glioma grade advanced (P = 0.0466, glioblastoma and anaplastic astrocytoma; P = 0.0008, glioblastoma and astrocytoma; P = 0.0271, glioblastoma and normal brain tissue; unpaired t test). 15958563 2005
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		0.010 Biomarker disease BEFREE Increased excretion of cathepsin D (mean = 44-fold) and NAG (mean = 12-fold) was found in FS patients: Dent's disease (n = 5), cystinosis (n = 4), Lowe syndrome (n = 3) and 'autosomal dominant idiopathic FS' (ADIF) (n = 2). 18174267 2008
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 AlteredExpression disease BEFREE Furthermore, the glioblastoma patients with high gene expression of cathepsin D lived significantly shorter than those with low expression (P = 0.0104, Cox-Mantel log-rank test) and frequently had leptomeningeal dissemination (P = 0.0016, chi2 test). 15958563 2005
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
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
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
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
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
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
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		0.200 Biomarker disease MGD Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. 10995834 2000
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
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
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		0.010 Biomarker disease BEFREE Association evaluation by Fisher's exact test (p < 0.01) revealed statistically significant SNPs in multiple genes, not only in inflammatory mediators (IL6ST and PTGDS, associated with aggressive periodontitis; and CTSD, associated with severe chronic periodontitis), but also in structural factors of periodontal tissues (COL4A1, COL1A1, and KRT23, associated with aggressive periodontitis; and HSPG2, COL17A1, and EGF, associated with severe chronic periodontitis). 15081423 2004
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.010 Biomarker disease BEFREE RNA interference inhibited cathepsin D over-production by 2.6-fold (P<0.01) in AGS lymphocytes cultured in the presence of interferon alpha. 23261460 2013