NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Acroosteolysis dominant type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930971
Disease: Acroosteolysis dominant type
Acroosteolysis dominant type 		0.300 GermlineCausalMutation disease ORPHANET Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 21378985 2011