NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: LATERAL MENINGOCELE SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.640 GeneticVariation disease BEFREE We created a mouse model of LMS (Notch3<sup>tm1.1Ecan</sup> ) by introducing a tandem termination codon in the Notch3 locus upstream of the proline (P), glutamic acid (E), serine (S) and threonine (T) domain. 31188489 2020
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.640 GeneticVariation disease BEFREE LMS is associated with mutations in exon 33 of <i>NOTCH3</i> leading to a truncated protein lacking sequences for NOTCH3 degradation and presumably causing NOTCH3 gain of function. 30042232 2018
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.640 CausalMutation disease CLINVAR Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. 26754023 2016
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.640 GeneticVariation disease BEFREE We report a boy with LMS, the fourteenth reported case, with a de novo 80 base pair deletion in exon 33 of NOTCH3. 26754023 2016
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.640 GermlineCausalMutation disease ORPHANET Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 25394726 2015
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.640 GeneticVariation disease BEFREE Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 25394726 2015
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.640 CausalMutation disease CLINVAR Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 25394726 2015
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.640 Biomarker disease CTD_human
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.640 GeneticVariation disease CLINVAR