Disease Term Disease ID Gene Symbol Classification References Source
Renal cysts and diabetes syndrome C0431693 HNF1B Causal Pathogenic evidence from ClinVar 9398836, 10484768, 10672455, 11085914, 11317673, 11562418, 11845238, 11918730, 12148114, 12161522, 12675839, 14583183, 15001636, 15068978, 15085338, 15142986, 15181075, 15509593, 15660195, 15668393, 15930087, 16249435, 16371430, 16837621, 17878605, 19389850, 20378641, 21380624, 21844708, 22498247, 23715323, 24309898, 24429398, 24897035, 25441779, 25500806, 25536396, 25700310, 25705165, 25754277, 26319241, 26417411, 26669242, 26876668, 27059371, 27234567, 27234911, 27657687, 29207974, 29927023, 30259503 ClinVar
HNF4A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24285859 -