Disease Term Disease ID Gene Symbol Classification References Source
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG C4014962 HNF4A Causal Pathogenic evidence from ClinVar 20164212, 22802087, 24285859, 25819479, 27245055, 28242437, 28458902, 28693455, 31875549 ClinVar