Disease: Nephropathic cystinosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.800 GeneticVariation CLINVAR Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. 28276207 2016
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.800 GeneticVariation UNIPROT Genetic basis of cystinosis in Turkish patients: a single-center experience. 21786142 2012
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.800 GeneticVariation UNIPROT Two novel CTNS mutations in cystinosis patients in Thailand. 22450360 2012
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.800 GeneticVariation UNIPROT Characterization of CTNS mutations in Arab patients with cystinosis. 19852576 2009
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.800 GeneticVariation UNIPROT Mutational spectrum of the CTNS gene in Italy. 12825071 2003
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.800 GeneticVariation UNIPROT Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. 12204010 2002
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.800 GeneticVariation UNIPROT Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 12442267 2002
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.800 GeneticVariation UNIPROT 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
0.800 GeneticVariation UNIPROT Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. 10482956 1999
Nephropathic cystinosis
CUI: C2931187
Disease: Nephropathic cystinosis
0.800 GeneticVariation UNIPROT CTNS mutations in an American-based population of cystinosis patients. 9792862 1998