Disease: Nephropathic cystinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931187
Disease: Nephropathic cystinosis
Nephropathic cystinosis 		0.010 GeneticVariation disease BEFREE 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