HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Cystic renal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		0.110 GeneticVariation disease BEFREE HNF1B gene mutations are an important cause of bilateral (cystic) dysplasia in children, complicated by chronic renal insufficiency. 30666461 2019
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		0.110 CausalMutation disease CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017