NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Lateral meningocele ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344487
Disease: Lateral meningocele
Lateral meningocele 		0.310 GeneticVariation disease BEFREE Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. 26754023 2016
CUI: C0344487
Disease: Lateral meningocele
Lateral meningocele 		0.310 GermlineCausalMutation disease ORPHANET Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 25394726 2015