Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.040 GeneticVariation disease BEFREE The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure. 14570709 2003
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.040 Biomarker disease BEFREE Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease. 14569098 2003
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.040 GeneticVariation disease BEFREE Mutations in HNF1B cause a phenotype similar to FJHN/GCKD but also congenital anomalies of the kidney and the urinary tract (CAKUT). 18846391 2009
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.040 GeneticVariation disease BEFREE However, UMOD, REN or HNF-1β mutations are found in only approximately 45% of FJHN probands, indicating the involvement of other genetic loci in approximately 55% of probands. 20976470 2011