NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Infantile myofibromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		0.610 GermlineCausalMutation disease ORPHANET Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene. 23731542 2013
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		0.610 Biomarker disease GENOMICS_ENGLAND Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene. 23731542 2013
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
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		0.610 Biomarker disease CTD_human