NOTCH3, notch receptor 3, 4854

N. diseases: 31; N. variants: 54
Disease: Lateral meningocele ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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