Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.050 Biomarker disease BEFREE Presence of cystic kidneys (OR=9.17, 95%CI:1.87-44.92), pancreatic abnormalities (OR=15, 95%CI:1.55-145.23), elevated liver enzymes (OR=15, 95%CI:1.55-145.23) best discriminated HNF1B-positive cases from the negative ones. 31825128 2019
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.050 GeneticVariation disease BEFREE 17q12 microdeletions containing HNF1B and intragenic variants within this gene are associated with variable developmental, endocrine, and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. 31498910 2019
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.050 GeneticVariation disease BEFREE Mutations of HNF-1β produce cystic kidney disease, a phenotype associated with deregulation of canonical (β-catenin-dependent) Wnt signaling. 31712448 2019
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.050 Biomarker disease BEFREE Further understanding of the molecular mechanisms upstream and downstream of HNF-1β may lead to the development of new therapeutic approaches in cystic kidney disease and other HNF1B-related renal diseases. 29961928 2019
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.050 GeneticVariation disease BEFREE HNF-1 beta gene mutation screening may prove useful in patients with small cystic kidneys and chronic renal failure, in whom a definite renal diagnosis could otherwise only be established by renal biopsy. 12478351 2002