HNF1B, HNF1 homeobox B, 6928

N. diseases: 192; N. variants: 17
Disease: Unilateral Multicystic Dysplastic Kidney ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1567426
Disease: Unilateral Multicystic Dysplastic Kidney
Unilateral Multicystic Dysplastic Kidney 		0.310 GeneticVariation disease BEFREE To further understand the spectrum of HNF1beta related phenotypes, we performed HNF1B gene mutation and deletion analyses in Japanese patients with renal hypodysplasia (n = 31), unilateral multicystic dysplastic kidney (MCDK; n = 14) and others (n = 5). 20155289 2010