DisGeNET - a database of gene-disease associations

CTNS, cystinosin, lysosomal cystine transporter, 1497

N. diseases: 88; N. variants: 71

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:

rs1555563010

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

CLINVAR

Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.

28276207

2016

dbSNP:

rs121908127

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

CausalMutation

CLINVAR

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.

24464559

2014

dbSNP:

rs121908126

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Two novel CTNS mutations in cystinosis patients in Thailand.

22450360

2012

dbSNP:

rs121908126

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Genetic basis of cystinosis in Turkish patients: a single-center experience.

21786142

2012

dbSNP:

rs121908127

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

CausalMutation

CLINVAR

Genetic basis of cystinosis in Turkish patients: a single-center experience.

21786142

2012

dbSNP:

rs121908127

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Genetic basis of cystinosis in Turkish patients: a single-center experience.

21786142

2012

dbSNP:

rs121908127

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Two novel CTNS mutations in cystinosis patients in Thailand.

22450360

2012

dbSNP:

rs1555563010

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Genetic basis of cystinosis in Turkish patients: a single-center experience.

21786142

2012

dbSNP:

rs1555563010

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Two novel CTNS mutations in cystinosis patients in Thailand.

22450360

2012

dbSNP:

rs746307931

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Two novel CTNS mutations in cystinosis patients in Thailand.

22450360

2012

dbSNP:

rs746307931

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Genetic basis of cystinosis in Turkish patients: a single-center experience.

21786142

2012

dbSNP:

rs121908126

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Characterization of CTNS mutations in Arab patients with cystinosis.

19852576

2009

dbSNP:

rs121908127

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Characterization of CTNS mutations in Arab patients with cystinosis.

19852576

2009

dbSNP:

rs121908127

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

CausalMutation

CLINVAR

Analysis of the CTNS gene in 32 cystinosis patients from Spain.

19863563

2009

dbSNP:

rs1555563010

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Characterization of CTNS mutations in Arab patients with cystinosis.

19852576

2009

dbSNP:

rs746307931

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Characterization of CTNS mutations in Arab patients with cystinosis.

19852576

2009

dbSNP:

rs121908127

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

CausalMutation

CLINVAR

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

15128704

2004

dbSNP:

rs121908126

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Mutational spectrum of the CTNS gene in Italy.

12825071

2003

dbSNP:

rs121908127

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Mutational spectrum of the CTNS gene in Italy.

12825071

2003

dbSNP:

rs121908127

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

CausalMutation

CLINVAR

Mutational spectrum of the CTNS gene in Italy.

12825071

2003

dbSNP:

rs1555563010

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Mutational spectrum of the CTNS gene in Italy.

12825071

2003

dbSNP:

rs746307931

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Mutational spectrum of the CTNS gene in Italy.

12825071

2003

dbSNP:

rs121908126

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.

12442267

2002

dbSNP:

rs121908126

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

GeneticVariation

UNIPROT

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.

12204010

2002

dbSNP:

rs121908127

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

CUI:	C2931187
Disease:

Nephropathic cystinosis

0.800

CausalMutation

CLINVAR

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.

12442267

2002