SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
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 		0.010 GeneticVariation phenotype BEFREE Detailed phenotyping of 14 patients with SON haploinsufficiency identified kidney anomalies in 8 patients, including horseshoe kidney, unilateral renal hypoplasia, and renal cysts. 31005274 2019