NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Meningocele ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025299
Disease: Meningocele
Meningocele 		0.010 GeneticVariation disease BEFREE Lateral meningocele syndrome (LMS), a genetic disorder characterized by meningoceles and skeletal abnormalities, is associated with NOTCH3 mutations. 31188489 2020