CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1049074086
rs1049074086
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1269955
Disease:
Tumor Cell Invasion
0.020 GeneticVariation BEFREE S100P has been shown to mediate tumor growth, metastasis and invasion through the binding of Ca(2+) ions, receptor for advanced glycation end products, cytoskeletal protein ezrin, calcyclin-binding protein/Siah-1-interacting protein and cathepsin D. S100P could potentially serve as diagnostic marker, prognostic/predictive indicator and therapy target for different carcinomas. 21947242 2012
dbSNP: rs1049074086
rs1049074086
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1269955
Disease:
Tumor Cell Invasion
0.020 GeneticVariation BEFREE The role of S100P in the invasion of pancreatic cancer cells is mediated through cytoskeletal changes and regulation of cathepsin D. 17875703 2007
dbSNP: rs1049074086
rs1049074086
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Calcium-binding protein S100P and cancer: mechanisms and clinical relevance. 21947242 2012
dbSNP: rs1049074086
rs1049074086
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0677898
Disease:
invasive cancer
0.010 GeneticVariation BEFREE Up-regulation of S100P, a member of the S100 calcium-binding protein family, is an early molecular event in the development of pancreatic cancer and it is expressed at high levels in both precursor lesions and invasive cancer. 17875703 2007
dbSNP: rs1049074086
rs1049074086
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE The role of S100P in the invasion of pancreatic cancer cells is mediated through cytoskeletal changes and regulation of cathepsin D. 17875703 2007
dbSNP: rs1049074086
rs1049074086
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE S100P has been shown to mediate tumor growth, metastasis and invasion through the binding of Ca(2+) ions, receptor for advanced glycation end products, cytoskeletal protein ezrin, calcyclin-binding protein/Siah-1-interacting protein and cathepsin D. S100P could potentially serve as diagnostic marker, prognostic/predictive indicator and therapy target for different carcinomas. 21947242 2012
dbSNP: rs1049074086
rs1049074086
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0235974
Disease:
Pancreatic carcinoma
0.010 GeneticVariation BEFREE The role of S100P in the invasion of pancreatic cancer cells is mediated through cytoskeletal changes and regulation of cathepsin D. 17875703 2007
dbSNP: rs1049074086
rs1049074086
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Calcium-binding protein S100P and cancer: mechanisms and clinical relevance. 21947242 2012
dbSNP: rs1049074086
rs1049074086
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE S100P has been shown to mediate tumor growth, metastasis and invasion through the binding of Ca(2+) ions, receptor for advanced glycation end products, cytoskeletal protein ezrin, calcyclin-binding protein/Siah-1-interacting protein and cathepsin D. S100P could potentially serve as diagnostic marker, prognostic/predictive indicator and therapy target for different carcinomas. 21947242 2012
dbSNP: rs1049074086
rs1049074086
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0007097
Disease:
Carcinoma
0.010 GeneticVariation BEFREE S100P has been shown to mediate tumor growth, metastasis and invasion through the binding of Ca(2+) ions, receptor for advanced glycation end products, cytoskeletal protein ezrin, calcyclin-binding protein/Siah-1-interacting protein and cathepsin D. S100P could potentially serve as diagnostic marker, prognostic/predictive indicator and therapy target for different carcinomas. 21947242 2012
dbSNP: rs1057519591
rs1057519591
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
G 0.700 GeneticVariation CLINVAR Cathepsin D deficiency is associated with a human neurodegenerative disorder. 16685649 2006
dbSNP: rs121912789
rs121912789
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs121912789
rs121912789
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
T 0.800 CausalMutation CLINVAR
dbSNP: rs121912789
rs121912789
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
0.800 GeneticVariation UNIPROT Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. 16670177 2006
dbSNP: rs121912789
rs121912789
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
0.800 GeneticVariation UNIPROT Cathepsin D deficiency is associated with a human neurodegenerative disorder. 16685649 2006
dbSNP: rs121912790
rs121912790
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
0.800 GeneticVariation UNIPROT Cathepsin D deficiency is associated with a human neurodegenerative disorder. 16685649 2006
dbSNP: rs121912790
rs121912790
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs121912790
rs121912790
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
0.800 GeneticVariation UNIPROT Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. 16670177 2006
dbSNP: rs121912790
rs121912790
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C1864669
Disease:
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
G 0.800 CausalMutation CLINVAR
dbSNP: rs1366541089
rs1366541089
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0002395
Disease:
Alzheimer's Disease
0.040 GeneticVariation BEFREE It has been suggested that the C-->T (224Ala-->Val) transition within exon 2 of the cathepsin D gene (CTSD) might represent a risk factor for late onset AD. 16543533 2006
dbSNP: rs1366541089
rs1366541089
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0002395
Disease:
Alzheimer's Disease
0.040 GeneticVariation BEFREE A functional polymorphism in exon 2 of the cathepsin D gene (C-->T, Ala224Val) has recently been reported to increase the risk for AD in some of the Caucasian populations, with a significant overrepresentation of the T allele, but these reports have not been universally duplicated. 15211064 2004
dbSNP: rs1366541089
rs1366541089
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0002395
Disease:
Alzheimer's Disease
0.040 GeneticVariation BEFREE Variations in CTSD and MnSOD showed no association with the development of AD, whereas the presence of the Ala224Val polymorphism in CTSD had a positive association with the development of AD. 26351775 2015
dbSNP: rs1366541089
rs1366541089
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0002395
Disease:
Alzheimer's Disease
0.040 GeneticVariation BEFREE Meta-analysis of the association of the cathepsin D Ala224Val gene polymorphism with the risk of Alzheimer's disease: a HuGE gene-disease association review. 15003956 2004
dbSNP: rs1369330655
rs1369330655
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE A C224T (A38V) polymorphism in exon 2 of the CTSD gene is reported to be associated with an increased risk for AD. 12811635 2003
dbSNP: rs1369330655
rs1369330655
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE In two recent studies from Germany, a strong association was found between the allelic variant T of the amino acid substitution encoding polymorphism 224 C/T (A38V) in exon 2 of the cathepsin D gene (CTSD) and late onset Alzheimer disease (AD). 11304834 2001