FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Renal cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.020 GeneticVariation phenotype BEFREE Herein, we report two patients from unrelated Dutch families, with HLRCC-related RCC at the ages of 15 and 18 years, and a third patient with an FH mutation and complex renal cysts at the age of 13. 31792767 2020
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.020 Biomarker phenotype BEFREE We undertook a proteomic-based screen in cells and renal cysts from Fh1 (murine FH)-deficient mice and identified 94 protein succination targets. 23499446 2013