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: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 GeneticVariation disease BEFREE The rare Congenital Neuronal Ceroid Lipofuscinosis (CLN10) caused by mutations in the <i>CTSD</i> gene encoding for cathepsin D is associated with a dramatic presentation with onset before or around birth. 29284168 2018
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
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: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 AlteredExpression disease BEFREE CNS-expressed cathepsin D prevents lymphopenia in a murine model of congenital neuronal ceroid lipofuscinosis. 20489146 2010
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 GeneticVariation disease CLINVAR Cathepsin D deficiency is associated with a human neurodegenerative disorder. 16685649 2006
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 GeneticVariation disease UNIPROT Further, we were able to confirm lack of cathepsin D in the brain tissue of yet another, unrelated, patient of English origin with congenital NCL. 16670177 2006
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 GeneticVariation disease UNIPROT Cathepsin D deficiency is associated with a human neurodegenerative disorder. 16685649 2006
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease GENOMICS_ENGLAND Cathepsin D deficiency is associated with a human neurodegenerative disorder. 16685649 2006
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease BEFREE Further, we were able to confirm lack of cathepsin D in the brain tissue of yet another, unrelated, patient of English origin with congenital NCL. 16670177 2006
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease GENOMICS_ENGLAND Further, we were able to confirm lack of cathepsin D in the brain tissue of yet another, unrelated, patient of English origin with congenital NCL. 16670177 2006
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease MGD Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice. 12676526 2003
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease MGD Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice. 11567042 2001
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease MGD Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. 10995834 2000
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease MGD Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation. 9539769 1998
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 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: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease GENOMICS_ENGLAND
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 CausalMutation disease CLINVAR
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease CTD_human
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		0.930 Biomarker disease GENOMICS_ENGLAND
CUI: C1864670
Disease: Neuronal Ceroid Lipofuscinosis, Congenital
Neuronal Ceroid Lipofuscinosis, Congenital 		0.500 Biomarker disease MGD Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice. 12676526 2003
CUI: C1864670
Disease: Neuronal Ceroid Lipofuscinosis, Congenital
Neuronal Ceroid Lipofuscinosis, Congenital 		0.500 Biomarker disease MGD Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice. 11567042 2001
CUI: C1864670
Disease: Neuronal Ceroid Lipofuscinosis, Congenital
Neuronal Ceroid Lipofuscinosis, Congenital 		0.500 Biomarker disease MGD Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. 10995834 2000
CUI: C1864670
Disease: Neuronal Ceroid Lipofuscinosis, Congenital
Neuronal Ceroid Lipofuscinosis, Congenital 		0.500 Biomarker disease MGD Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation. 9539769 1998
CUI: C1864670
Disease: Neuronal Ceroid Lipofuscinosis, Congenital
Neuronal Ceroid Lipofuscinosis, Congenital 		0.500 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