SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney
0.110 GeneticVariation disease 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
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney
0.110 Biomarker disease HPO