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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.100 None 0.938 16 2006 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.020 None 1.000 2 2016 2018
CUI: C1536220
Disease: ST segment elevation myocardial infarction
ST segment elevation myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 264 16 0.010 None 1.000 1 2015 2015
CUI: C1458142
Disease: Squamous odontogenic tumor
Squamous odontogenic tumor 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2010 2010
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.040 None 1.000 4 2010 2018
CUI: C0280321
Disease: Squamous cell carcinoma of the hypopharynx
Squamous cell carcinoma of the hypopharynx 		disease Neoplastic Process 103 3 0.020 None 1.000 2 2018 2020
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		disease Neoplasms Neoplastic Process 1543 348 0.400 None 1.000 20 1 2011 2019
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.040 None 1.000 4 2008 2019
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 155 33 0.010 None 1.000 1 2017 2017
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.310 None 1.000 1 2019 2019
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.390 None 0.800 10 2011 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.600 None 0.935 31 2007 2019
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 50 6 0.010 None 1.000 1 2018 2018
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.300 None 1.000 1 2015 2015
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: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		phenotype Neoplasms Neoplastic Process 1145 24 0.070 None 1.000 7 2011 2018
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 62 3 0.010 None 1.000 1 2017 2017
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 120 122 0.020 None 1.000 2 2014 2019
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.080 None 1.000 8 1 2014 2018
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.310 None 1.000 2 2012 2017
CUI: C3887524
Disease: Skin Erosion
Skin Erosion 		disease Skin and Connective Tissue Diseases Disease or Syndrome 225 2 0.010 None 1.000 1 2018 2018
CUI: C1519346
Disease: Skin Carcinogenesis
Skin Carcinogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 194 7 0.010 None 1.000 1 2013 2013
CUI: C4531138
Disease: Short telomere length
Short telomere length 		phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2013 2013
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0