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 <b>Introduction:</b> Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of renal impairment resulting from mutations in the <i>MUC1, UMOD, HNF1B, REN</i>, and <i>SEC61A1</i> genes. 31509055 2019
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.040 Biomarker disease BEFREE Previous HNF1β research focused on the renal distal convoluted tubule (DCT) to elucidate the ADTKD-HNF1β electrolyte phenotype, although 70% of Mg<sup>2+</sup> is reabsorbed in the thick ascending limb of Henle's loop (TAL). 29561186 2018
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.040 GeneticVariation disease BEFREE Autosomal dominant tubulointerstitial kidney disease subtype HNF1B (ADTKD-HNF1B) is caused by a mutation in hepatocyte nuclear factor 1 homeobox beta (HNF1B). 26340261 2015
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.040 GeneticVariation disease BEFREE A locus for FJHN was previously identified on chromosome 16p12 close to the MCKD2 locus, which is responsible for a variety of autosomal-dominant medullary cystic kidney disease (MCKD2). 14569098 2003