DisGeNET - a database of gene-disease associations

CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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:

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:

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

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

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

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

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C1864669
Disease:

NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY

0.800

CausalMutation

CLINVAR

dbSNP:

rs121912790

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C1864669
Disease:

NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY

0.800

CausalMutation

CLINVAR

dbSNP:

rs55861089

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Co-regulatory networks of human serum proteins link genetics to disease.

30072576

2018

dbSNP:

rs1057519591

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C1864669
Disease:

NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY

0.700

GeneticVariation

CLINVAR

Cathepsin D deficiency is associated with a human neurodegenerative disorder.

16685649

2006

dbSNP:

rs730882208

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C0234166
Disease:

Hyperexplexia

GATGAAGACGTCGCCC

0.700

GeneticVariation

CLINVAR

dbSNP:

rs786205105

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C1864669
Disease:

NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY

0.700

CausalMutation

CLINVAR

dbSNP:

rs797045137

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C1864669
Disease:

NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY

0.700

CausalMutation

CLINVAR

dbSNP:

rs797045138

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C1864669
Disease:

NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY

0.700

CausalMutation

CLINVAR

dbSNP:

rs17571

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C0002395
Disease:

Alzheimer's Disease

0.080

GeneticVariation

BEFREE

The exon variant Aal58Val (rs17571) in CTSD was recently associated with AD, leading us to examine whether it also affects risk of ALS and PD.

28917980

2018

dbSNP:

rs17571

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C0002395
Disease:

Alzheimer's Disease

0.080

GeneticVariation

BEFREE

Additional search for potentially modifying variants revealed in all affected individuals of the third generation a paternally inherited variant p.A58V (rs17571) of Cathepsin D which is considered an independent risk factor for Alzheimer's disease.

23415546

2013

dbSNP:

rs17571

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C0002395
Disease:

Alzheimer's Disease

0.080

GeneticVariation

BEFREE

A meta-analysis of previously published data showed a significantly increased risk of AD in carriers of the T-allele of rs17571 (OR 1.22, 95% CI 1.03-1.44), irrespective of APOE ε4 carrier status.

19926167

2011

dbSNP:

rs17571

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C0002395
Disease:

Alzheimer's Disease

0.080

GeneticVariation

BEFREE

Thus, our results support the idea that rs17571 confers an increased risk for AD in</span> men but not in women.

20083556

2010

dbSNP:

rs17571

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C0002395
Disease:

Alzheimer's Disease

0.080

GeneticVariation

BEFREE

This study looked at a polymorphism in the cathepsin D gene (refSNP ID: rs17571) previously examined in Alzheimer's disease (AD).

18426579

2008

dbSNP:

rs17571

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C0002395
Disease:

Alzheimer's Disease

0.080

GeneticVariation

BEFREE

Furthermore, we did not find any statistically significant differences in rates between CAT rs1001179 and CTSD rs17571 genotypes and AD controlling for APOE e4 allele status.

18248894

2008

dbSNP:

rs17571

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C0002395
Disease:

Alzheimer's Disease

0.080

GeneticVariation

BEFREE

The cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer disease.

16652347

2006

dbSNP:

rs17571

Entrez Id:	1509
Gene Symbol:	CTSD

CTSD

CUI:	C0002395
Disease:

Alzheimer's Disease

0.080

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:

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

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

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