NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.700 Biomarker disease HPO
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 GeneticVariation disease CLINVAR
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 Biomarker disease CTD_human
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		0.650 Biomarker disease HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 CausalMutation disease CGI
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.600 CausalMutation disease CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.600 CausalMutation disease CGI
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.600 CausalMutation disease CGI
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 GeneticVariation disease CLINVAR
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		0.560 Biomarker disease CTD_human
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.440 GeneticVariation disease CLINVAR
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 CausalMutation group CGI
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.400 GeneticVariation group CLINVAR
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.400 CausalMutation disease CGI
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.370 CausalMutation disease CGI
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.370 CausalMutation disease CGI
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.360 CausalMutation disease CGI
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		0.330 CausalMutation disease CGI
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.310 CausalMutation disease CGI
CUI: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		0.310 Biomarker disease CTD_human
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		0.300 CausalMutation disease CGI
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder 		0.300 CausalMutation disease CGI
CUI: C0344917
Disease: Left ventricular outflow tract obstruction
Left ventricular outflow tract obstruction 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0496930
Disease: Neoplasm of uncertain or unknown behavior of bladder
Neoplasm of uncertain or unknown behavior of bladder 		0.300 CausalMutation disease CGI