TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Polycystic Kidney - body part ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part 		0.010 Biomarker disease BEFREE A contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with TSC and enlarged polycystic kidneys at birth. 9631851 1998