Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Posterior reversible encephalopathy syndrome
0.020 GeneticVariation disease BEFREE We describe a 13-year-old boy with renal hypouricemia type 1 (serum uric acid, 0.9 mg/dL) with a homozygous W258X mutation in the SLC22A12 gene, presenting with EIAKI and PRES. 23525542 2013
Posterior reversible encephalopathy syndrome
0.020 Biomarker disease BEFREE Our case shows that GLUT9, unlike URAT1, may play a specific role in exercise-induced PRES. 21536615 2011