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: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 1 2016 2016
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2018 2018
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2011 2011
CUI: C0349632
Disease: Splenic Marginal Zone B-Cell Lymphoma
Splenic Marginal Zone B-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 93 4 0.010 None 1.000 1 2012 2012
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.010 None 1.000 1 2019 2019
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 322 2 0.010 None 1.000 1 2018 2018
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 114 26 0.010 None 1.000 1 2013 2013
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2016 2016
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 63 12 0.010 None 1.000 1 2018 2018
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 558 44 0.010 None 1.000 1 2008 2008
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: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 100 4 0.010 None 1.000 1 2018 2018
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2019 2019
CUI: C0456889
Disease: Enteropathy-Associated T-Cell Lymphoma
Enteropathy-Associated T-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 39 3 0.010 None 1.000 1 2005 2005
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: 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: C0334299
Disease: Carcinoid tumor no ICD-O subtype
Carcinoid tumor no ICD-O subtype 		phenotype Neoplasms Neoplastic Process 122 0.010 None 1.000 1 2011 2011
CUI: C0334443
Disease: Epithelioid Cell Melanoma
Epithelioid Cell Melanoma 		disease Neoplasms Neoplastic Process 4 2 0.010 None 1.000 1 2019 2019
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Neoplastic Process 76 14 0.010 None 1.000 1 2015 2015
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.010 None 1.000 1 2011 2011
CUI: C0338831
Disease: Manic
Manic 		disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.010 None 1.000 1 2017 2017
CUI: C0340629
Disease: Aortic aneurysm without mention of rupture NOS
Aortic aneurysm without mention of rupture NOS 		disease Cardiovascular Diseases Disease or Syndrome 100 4 0.010 None 1.000 1 2013 2013
CUI: C0341038
Disease: Jaw Keratocyst
Jaw Keratocyst 		disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 51 4 0.010 None 1.000 1 2019 2019
CUI: C0341858
Disease: Endometriosis of uterus
Endometriosis of uterus 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 154 4 0.010 None 1.000 1 2015 2015
CUI: C0342199
Disease: Iodine deficiency syndrome
Iodine deficiency syndrome 		disease Endocrine System Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2018 2018