HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Bilateral Multicystic Dysplastic Kidneys ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1567427
Disease: Bilateral Multicystic Dysplastic Kidneys
Bilateral Multicystic Dysplastic Kidneys 		0.300 GermlineCausalMutation disease ORPHANET Different phenotypes of HNF1ß deletion mutants in familial multicystic dysplastic kidneys. 23725647 2013
CUI: C1567427
Disease: Bilateral Multicystic Dysplastic Kidneys
Bilateral Multicystic Dysplastic Kidneys 		0.300 GermlineCausalMutation disease ORPHANET HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. 20155289 2010