HNF1B, HNF1 homeobox B, 6928

N. diseases: 192; N. variants: 17
Disease: Hyperuricemia ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.130 GeneticVariation disease BEFREE We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1β) genes. 21903317 2011
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.130 Biomarker disease BEFREE Here, we describe new missense mutations in three families with MCKD/FJHN and demonstrate allelism with a glomerulocystic kidney disease (GCKD) variant, showing association of cyst dilatation and collapse of glomeruli with some clinical features similar to MCKD/FJHN as hyperuricemia and impairment of urine concentrating ability. 14570709 2003