NOTCH3, notch receptor 3, 4854

N. diseases: 282; N. variants: 34
Disease: Infantile myofibromatosis ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		0.610 Biomarker disease BEFREE Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene. 23731542 2013