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 A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update. 25700310 2015
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 Biomarker disease BEFREE Immunohistochemistry on GCKD and MCKD/FJHN kidney biopsies revealed dense intracellular accumulation of uromodulin in tubular epithelia of the thick ascending limb of Henle's loop. 14570709 2003
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.040 GeneticVariation disease BEFREE Mutations in the homeobox gene vHnf1 are associated with human diseases MODY5 (maturity-onset diabetes of the young, type V) and familial GCKD (glomerulocystic kidney disease). 11731484 2001