Disease: Cystinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994204
rs113994204
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis 		A 0.700 CausalMutation CLINVAR Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 26489029 2016
dbSNP: rs113994204
rs113994204
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis 		A 0.700 GeneticVariation CLINVAR Non-invasive measurements of atherosclerosis in adult cystinosis patients. 21305353 2011
dbSNP: rs113994204
rs113994204
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis 		A 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: rs113994204
rs113994204
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis 		A 0.700 GeneticVariation CLINVAR Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. 15128704 2004
dbSNP: rs113994204
rs113994204
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis 		A 0.700 CausalMutation CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862 1998
dbSNP: rs113994204
rs113994204
Entrez Id: 1497;105371493
Gene Symbol: CTNS;LOC105371493
CTNS;LOC105371493
CUI: C4316899
Disease:
Cystinosis 		A 0.700 GeneticVariation CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862 1998