rs375952052, CTNS

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile nephropathic cystinosis (disorder)
CUI: C0268626
Disease: Juvenile nephropathic cystinosis (disorder)
0.700 GeneticVariation CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109 2015
Cystinosis, benign, nonnephropathic
CUI: C2931013
Disease: Cystinosis, benign, nonnephropathic
0.700 GeneticVariation CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109 2015
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.700 CausalMutation CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109 2015
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.700 GeneticVariation CLINVAR Common mutation causes cystinosis in the majority of black South African patients. 25326109 2015
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.700 CausalMutation CLINVAR Two novel CTNS mutations in cystinosis patients in Thailand. 22450360 2012
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.700 CausalMutation CLINVAR Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 12442267 2002
Juvenile nephropathic cystinosis (disorder)
CUI: C0268626
Disease: Juvenile nephropathic cystinosis (disorder)
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
Cystinosis, benign, nonnephropathic
CUI: C2931013
Disease: Cystinosis, benign, nonnephropathic
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
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
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
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
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
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.700 CausalMutation CLINVAR A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 9537412 1998