Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs893207601
rs893207601
CTNS ; LOC105371492
CA 0.700 CausalMutation CLINVAR Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. 27858370

2017
dbSNP: rs113994211
rs113994211
CTNS ; LOC105371492
G 0.700 CausalMutation CLINVAR Cystinosis: a review. 27102039

2016
dbSNP: rs786204501
rs786204501
CTNS ; LOC105371493
G 0.700 CausalMutation CLINVAR Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. 28276207

2016
dbSNP: rs113994207
rs113994207
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR CTNS mutations in publicly-available human cystinosis cell lines. 28649545

2015
dbSNP: rs1436441738
rs1436441738
CTNS ; LOC105371492
T 0.700 CausalMutation CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109

2015
dbSNP: rs375952052
rs375952052
CTNS
A 0.700 GeneticVariation CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109

2015
dbSNP: rs759623796
rs759623796
CTNS ; LOC105371492
T 0.700 CausalMutation CLINVAR Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. 26266097

2015
dbSNP: rs1436441738
rs1436441738
CTNS ; LOC105371492
T 0.700 CausalMutation CLINVAR Characterization of CTNS mutations in Arab patients with cystinosis. 19852576

2009
dbSNP: rs893207601
rs893207601
CTNS ; LOC105371492
CA 0.700 CausalMutation CLINVAR Analysis of the CTNS gene in 32 cystinosis patients from Spain. 19863563

2009
dbSNP: rs1555564051
rs1555564051
CTNS ; LOC105371492
CG 0.700 CausalMutation 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
dbSNP: rs893207601
rs893207601
CTNS ; LOC105371492
CA 0.700 CausalMutation CLINVAR Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. 18178779

2008
dbSNP: rs1436441738
rs1436441738
CTNS ; LOC105371492
T 0.700 CausalMutation CLINVAR Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. 15128704

2004
dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro. 11855931

2002
dbSNP: rs746307931
rs746307931
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. 12204010

2002
dbSNP: rs113994207
rs113994207
CTNS ; LOC105371492
A 0.700 CausalMutation 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
dbSNP: rs746307931
rs746307931
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. 11689434

2001
dbSNP: rs113994207
rs113994207
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 10625078

2000
dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. 10482956

1999
dbSNP: rs375952052
rs375952052
CTNS
A 0.700 GeneticVariation CLINVAR Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 10556299

1999
dbSNP: rs759623796
rs759623796
CTNS ; LOC105371492
T 0.700 CausalMutation CLINVAR Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 10556299

1999
dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 9537412

1998
dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862

1998
dbSNP: rs113994211
rs113994211
CTNS ; LOC105371492
G 0.700 CausalMutation CLINVAR A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 9537412

1998
dbSNP: rs746307931
rs746307931
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862

1998
dbSNP: rs786204501
rs786204501
CTNS ; LOC105371493
G 0.700 CausalMutation CLINVAR A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 9537412

1998