DisGeNET - a database of gene-disease associations

Nephropathic cystinosis, C2931187

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Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

CLINVAR

CTNS mutations in an American-based population of cystinosis patients.

9792862

1998

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

Biomarker

disease

GENOMICS_ENGLAND

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

9537412

1998

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

UNIPROT

CTNS mutations in an American-based population of cystinosis patients.

9792862

1998

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

CausalMutation

disease

CLINVAR

CTNS mutations in an American-based population of cystinosis patients.

9792862

1998

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

CausalMutation

disease

CLINVAR

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

9537412

1998

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

CausalMutation

disease

CLINVAR

Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.

10482956

1999

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

UNIPROT

Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.

10482956

1999

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

Biomarker

disease

GENOMICS_ENGLAND

Mutations of CTNS causing intermediate cystinosis.

10444339

1999

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

BEFREE

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

10417278

1999

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

UNIPROT

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

10556299

1999

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

CLINVAR

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

10556299

1999

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

CausalMutation

disease

CLINVAR

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

10556299

1999

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

CausalMutation

disease

CLINVAR

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

10625078

2000

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

LHGDN

The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.

11505338

2001

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

CausalMutation

disease

CLINVAR

The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.

11505338

2001

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

LHGDN

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.

11565547

2001

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

CausalMutation

disease

CLINVAR

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.

11689434

2001

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

CausalMutation

disease

CLINVAR

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.

11565547

2001

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

Biomarker

disease

MGD

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.

12370309

2002

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

UNIPROT

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

12204010

2002

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

BEFREE

Homozygosity for a nonsense mutation in CTNS (753G -->A), encoding a premature termination codon (PTC) at amino acid 138 (W138X), results in nephropathic cystinosis.

11855931

2002

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

GeneticVariation

disease

BEFREE

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

12204010

2002

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

CausalMutation

disease

CLINVAR

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

12204010

2002

Entrez Id:	1497
Gene Symbol:	CTNS

CTNS

1.000

CausalMutation

disease

CLINVAR

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

12442267

2002