Gene: CTNS ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. 27858370 2017
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Cystinosis: a review. 27102039 2016
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. 28276207 2016
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109 2015
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 GeneticVariation disease CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109 2015
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR CTNS mutations in publicly-available human cystinosis cell lines. 28649545 2015
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. 26266097 2015
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Analysis of the CTNS gene in 32 cystinosis patients from Spain. 19863563 2009
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Characterization of CTNS mutations in Arab patients with cystinosis. 19852576 2009
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 Biomarker disease GENOMICS_ENGLAND Analysis of the CTNS gene in 32 cystinosis patients from Spain. 19863563 2009
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. 18178779 2008
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay. 18752449 2008
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. 15128704 2004
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 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 		0.700 CausalMutation disease CLINVAR Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro. 11855931 2002
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 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 		0.700 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 		0.700 GeneticVariation disease UNIPROT Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 10625078 2000
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 CausalMutation disease CLINVAR Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 10625078 2000
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 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 		0.700 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 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations of CTNS causing intermediate cystinosis. 10444339 1999
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.700 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 		0.700 CausalMutation disease CLINVAR A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 9537412 1998