NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Acro-Osteolysis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.310 GeneticVariation disease BEFREE The neurogenic locus notch homolog protein (Notch)-2 receptor is a determinant of B-cell allocation, and gain-of-NOTCH2-function mutations are associated with Hajdu-Cheney syndrome (HCS), a disease presenting with osteoporosis and acro-osteolysis. 29037852 2018
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.310 Biomarker disease MGD Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome. 28592489 2017
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.310 Biomarker disease MGD Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption. 26627824 2016
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.310 Biomarker disease HPO