HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Congenital anomaly of the kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		0.040 GeneticVariation group 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
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		0.040 GeneticVariation group BEFREE Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings. 29574432 2018
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		0.040 GeneticVariation group BEFREE Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. 23539225 2013
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		0.040 GeneticVariation group BEFREE TCF2 anomalies were associated with bilateral renal anomalies (P < 0.001) and bilateral cortical cysts (P < 0.001). 16371430 2006