HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Renal cysts and diabetes syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.310 GermlineCausalMutation disease ORPHANET The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 24285859 2014
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.310 GeneticVariation disease BEFREE Reduced pancreatic volume is seen in HNF1B-MODY (MODY5) and diabetes types 1 and 2. 18593771 2008