HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Unilateral Multicystic Dysplastic Kidney ×
Source: ALL
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 GermlineCausalMutation disease ORPHANET Different phenotypes of HNF1ß deletion mutants in familial multicystic dysplastic kidneys. 23725647 2013
CUI: C1567426
Disease: Unilateral Multicystic Dysplastic Kidney
Unilateral Multicystic Dysplastic Kidney 		0.310 GermlineCausalMutation disease ORPHANET 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
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