DLL1, delta like canonical Notch ligand 1, 28514

N. diseases: 212; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.410 Biomarker phenotype GENOMICS_ENGLAND Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 31353024 2019
CUI: C0036572
Disease: Seizures
Seizures
0.410 GeneticVariation phenotype BEFREE The affected mother had a history of hydrocephalus, developmental delay, and seizures commonly associated with DLL1 and TBP 6q27 deletions. 30194807 2018
CUI: C0036572
Disease: Seizures
Seizures
0.410 Biomarker phenotype HPO