Disease: Hydronephrosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
0.010 GeneticVariation BEFREE We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. 22276601 2012