NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
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 GeneticVariation disease BEFREE Hajdu-Cheney syndrome (HCS), a rare autosomal disorder caused by heterozygous mutations in NOTCH2, is clinically characterized by acro-osteolysis, severe osteoporosis, short stature, neurological symptoms, cardiovascular defects, and polycystic kidneys. 29149593 2017