Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polycystic Kidney - body part
CUI: C1567435
Disease: Polycystic Kidney - body part
0.010 GeneticVariation BEFREE WES identified a DNAJB11 missense variant (p.Pro54Arg) in two family members presenting with non-enlarged polycystic kidneys and a frameshifting change (c.166_167insTT) in a second family with small renal and liver cysts. 29706351 2018