×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
0.930
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
0.930
CausalMutation
disease
CLINVAR
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
0.930
Biomarker
disease
CTD_human
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
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
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
0.930
Biomarker
disease
MGD
Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation.
9539769
1998
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
0.930
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
0.930
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
0.930
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
0.930
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
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
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
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
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
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
0.930
GeneticVariation
disease
CLINVAR
Cathepsin D deficiency is associated with a human neurodegenerative disorder.
16685649
2006
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
0.930
GeneticVariation
disease
UNIPROT
Cathepsin D deficiency is associated with a human neurodegenerative disorder.
16685649
2006
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
0.930
Biomarker
disease
GENOMICS_ENGLAND
Cathepsin D deficiency is associated with a human neurodegenerative disorder.
16685649
2006
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
0.930
AlteredExpression
disease
BEFREE
CNS-expressed cathepsin D prevents lymphopenia in a murine model of congenital neuronal ceroid lipofuscinosis .
20489146
2010
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
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
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
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
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
0.930
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
1509
Gene Symbol:
CTSD
CTSD
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