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
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.400 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 31353024 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group GENOMICS_ENGLAND Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay, intellectual disability, and brain malformations have microdeletions encompassing DLL1, we hypothesized that insufficiency of DLL1 causes a human neurodevelopmental disorder. 31353024 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.400 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 Biomarker disease BEFREE Consistent with prognostic clinical data, we found the tumor-promoting function of DLL1 is exclusive to ERα<sup>+</sup> luminal breast cancer, as loss of DLL1 inhibits both tumor growth and lung metastasis of luminal breast cancer. 30442981 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 Biomarker disease BEFREE Delta-like1 (DLL1) is a ligand of the Notch pathway implicated in different types of cancer, including breast cancer. 29366964 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 Biomarker disease BEFREE In gain-of-function and loss-of-function studies, we demonstrated that miR-130b-3p could inhibit breast carcinoma cell invasion and migration by directly targeting the Notch ligand Delta-like 1 (DLL1). 28163094 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 Biomarker disease CTD_human Inhibition of Notch signaling reduces the stem-like population of breast cancer cells and prevents mammosphere formation. 21036696 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.320 Biomarker disease BEFREE Consistent with prognostic clinical data, we found the tumor-promoting function of DLL1 is exclusive to ERα<sup>+</sup> luminal breast cancer, as loss of DLL1 inhibits both tumor growth and lung metastasis of luminal breast cancer. 30442981 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.320 Biomarker disease BEFREE Delta-like1 (DLL1) is a ligand of the Notch pathway implicated in different types of cancer, including breast cancer. 29366964 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.320 Biomarker disease CTD_human Inhibition of Notch signaling reduces the stem-like population of breast cancer cells and prevents mammosphere formation. 21036696 2010
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker disease BEFREE Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay, intellectual disability, and brain malformations have microdeletions encompassing DLL1, we hypothesized that insufficiency of DLL1 causes a human neurodevelopmental disorder. 31353024 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker disease GENOMICS_ENGLAND Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay, intellectual disability, and brain malformations have microdeletions encompassing DLL1, we hypothesized that insufficiency of DLL1 causes a human neurodevelopmental disorder. 31353024 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 31353024 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.300 Biomarker phenotype GENOMICS_ENGLAND Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 31353024 2019
Morphological abnormality of the central nervous system
0.300 Biomarker group GENOMICS_ENGLAND Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 31353024 2019
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
0.300 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 31353024 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.300 Biomarker group CTD_human Inhibition of notch signaling blocks growth of glioblastoma cell lines and tumor neurospheres. 21127729 2010
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
0.300 Biomarker disease CTD_human Inhibition of notch signaling blocks growth of glioblastoma cell lines and tumor neurospheres. 21127729 2010
Benign neoplasm of brain, unspecified
0.300 Biomarker disease CTD_human Inhibition of notch signaling blocks growth of glioblastoma cell lines and tumor neurospheres. 21127729 2010
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary
0.300 Biomarker disease CTD_human Inhibition of notch signaling blocks growth of glioblastoma cell lines and tumor neurospheres. 21127729 2010
CUI: C0750977
Disease: Recurrent Brain Neoplasm
Recurrent Brain Neoplasm
0.300 Biomarker disease CTD_human Inhibition of notch signaling blocks growth of glioblastoma cell lines and tumor neurospheres. 21127729 2010