Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation disease CLINVAR A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 9537412 1998
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 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 		0.500 GeneticVariation disease CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862 1998
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation disease BEFREE CTNS mutations in an American-based population of cystinosis patients. 9792862 1998
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 CausalMutation disease CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862 1998
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation disease BEFREE Using a positional cloning strategy, we recently cloned the causative gene, CTNS, and identified pathogenic mutations, including deletions, that span the cystinosis locus. 10417278 1999
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 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 		0.500 GeneticVariation disease BEFREE 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 		0.500 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 		0.500 GeneticVariation disease CLINVAR CTNS mutations in patients with cystinosis. 10571941 1999
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation disease BEFREE CTNS mutations in patients with cystinosis. 10571941 1999
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation disease CLINVAR Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. 10625078 2000
Entrez Id: 3682
Gene Symbol: ITGAE
ITGAE 		0.010 GeneticVariation disease BEFREE Analysis of the resulting data revealed a number of interesting features about this genomic region, including the long-range organization of CTNS, insight about the breakpoints and intervening DNA associated with the common cystinosis-causing deletion, and structural information about five genes neighboring CTNS (human ortholog of rat vanilloid receptor subtype 1 gene, CARKL, TIP-1, P2X5, and HUMINAE). 10673275 2000
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation disease BEFREE 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 		0.500 GeneticVariation 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 		0.500 GeneticVariation disease CLINVAR Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany. 11562417 2001
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation disease BEFREE CTNS mutations in African American patients with cystinosis. 11708862 2001
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation disease CLINVAR CTNS mutations in African American patients with cystinosis. 11708862 2001
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation disease BEFREE Mutations in CTNS result in one of three forms of cystinosis: benign, intermediate, or nephropathic. 11855931 2002
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation disease BEFREE CTNS, the gene mutated in cystinosis, codes for the lysosomal membrane protein cystinosin. 12138135 2002
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 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 		0.500 GeneticVariation disease BEFREE Up to now more than 55 different CTNS mutations have been described in cystinosis. 12204010 2002
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 GeneticVariation 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 		0.500 GeneticVariation disease BEFREE By screening for mutations in the CTNS exons and promotor region, we report 14 novel mutations associated with cystinosis: 11 underlying infantile cystinosis, two juvenile cystinosis, and one associated with an atypical form of the disease. 12442267 2002
Entrez Id: 1497
Gene Symbol: CTNS
CTNS 		0.500 CausalMutation disease CLINVAR Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 12442267 2002