HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Multiple cysts ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0442872
Disease: Multiple cysts
Multiple cysts 		0.010 GeneticVariation disease 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