HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835171
Disease: Hypomagnesemia 2, renal
Hypomagnesemia 2, renal
0.330 GeneticVariation disease BEFREE The phenotype of HNF1B deletion was extended including renal magnesium wasting. 28440405 2017
CUI: C1835171
Disease: Hypomagnesemia 2, renal
Hypomagnesemia 2, renal
0.330 GeneticVariation disease BEFREE Therefore, patients with primary renal magnesium wasting should be tested for HNF1B mutations to ensure early detection and optimal management of ADTKD-HNF1B. 26340261 2015
CUI: C1835171
Disease: Hypomagnesemia 2, renal
Hypomagnesemia 2, renal
0.330 GeneticVariation disease BEFREE HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. 19389850 2009
CUI: C1835171
Disease: Hypomagnesemia 2, renal
Hypomagnesemia 2, renal
0.330 GermlineCausalMutation disease ORPHANET HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. 19389850 2009