NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		disease Disease or Syndrome 1 27 0.600 strong 1.000 3 27 2014 2018
CUI: C0232308
Disease: P pulmonale by EKG (finding)
P pulmonale by EKG (finding) 		phenotype Finding 1 0.100 None 0
CUI: C0748427
Disease: Right atrial enlargement
Right atrial enlargement 		disease Disease or Syndrome 1 0.100 None 0
CUI: C0278769
Disease: Chronic lymphocytic leukaemia stage 3
Chronic lymphocytic leukaemia stage 3 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C0344963
Disease: Right hypoplastic heart syndrome
Right hypoplastic heart syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 1 0.010 None 1.000 1 2017 2017
CUI: C1458142
Disease: Squamous odontogenic tumor
Squamous odontogenic tumor 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2010 2010
CUI: C4049493
Disease: Post stroke seizure
Post stroke seizure 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0345419
Disease: Cutis marmorata telangiectatica congenita
Cutis marmorata telangiectatica congenita 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.100 None 0
CUI: C0596377
Disease: connective tissue hyperplasia
connective tissue hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1265736
Disease: Orthokeratinized odontogenic cyst
Orthokeratinized odontogenic cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 3 0.010 None 1.000 1 2019 2019
CUI: C0334443
Disease: Epithelioid Cell Melanoma
Epithelioid Cell Melanoma 		disease Neoplasms Neoplastic Process 4 2 0.010 None 1.000 1 2019 2019
CUI: C0347197
Disease: Benign neoplasm of oral cavity
Benign neoplasm of oral cavity 		group Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process 4 0.010 None 1.000 1 2018 2018
CUI: C1404153
Disease: Valve anomalies
Valve anomalies 		disease Congenital Abnormality 4 0.010 None 1.000 1 2005 2005
CUI: C1855652
Disease: Fetus Small for Gestational Age
Fetus Small for Gestational Age 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 4 2 0.100 None 1.000 1 1 2014 2014
CUI: C1969292
Disease: Thoracic aorta calcification
Thoracic aorta calcification 		phenotype Finding 4 0.100 None 0
CUI: C0024694
Disease: Mandibular Neoplasms
Mandibular Neoplasms 		group Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 5 0.010 None 1.000 1 2008 2008
CUI: C0031142
Disease: Peritoneal Diseases
Peritoneal Diseases 		group Digestive System Diseases Disease or Syndrome 5 0.200 None 1.000 1 2010 2010
CUI: C0457533
Disease: Desmoplastic ameloblastoma
Desmoplastic ameloblastoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2010 2010
CUI: C0851971
Disease: Gastrointestinal vascular malformation
Gastrointestinal vascular malformation 		disease Disease or Syndrome 5 0.010 None 1.000 1 2014 2014
CUI: C1333125
Disease: combined type small cell lung cancer
combined type small cell lung cancer 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 5 0.010 None 1.000 1 2017 2017
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 6 25 0.700 None 1.000 5 7 2005 2016
CUI: C4698657
Disease: T-cell lymphoblastic leukemia/lymphoma
T-cell lymphoblastic leukemia/lymphoma 		disease Neoplastic Process 6 1 0.030 None 1.000 3 2011 2013
CUI: C0280401
Disease: Laryngeal squamous cell carcinoma recurrent
Laryngeal squamous cell carcinoma recurrent 		disease Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C0431132
Disease: Malignant lymphoma, stem cell type
Malignant lymphoma, stem cell type 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 6 0.010 None 1.000 1 2018 2018
CUI: C1314678
Disease: Ameloblastic Carcinoma
Ameloblastic Carcinoma 		disease Neoplastic Process 6 0.010 None 1.000 1 2008 2008