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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 0.990 98 2006 2020
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 19 1 1999 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 1.000 13 2009 2018
CUI: C4288891
Disease: Infant T Acute Lymphoblastic Leukemia
Infant T Acute Lymphoblastic Leukemia 		disease Neoplastic Process 75 1 0.080 None 1.000 8 2005 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.350 limited 1.000 6 2009 2017
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.050 None 1.000 5 2010 2019
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.040 None 1.000 4 2008 2016
CUI: C0279525
Disease: Childhood Lymphoblastic Lymphoma
Childhood Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.040 None 1.000 4 2008 2016
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.040 None 1.000 4 2010 2016
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.040 None 1.000 4 2008 2018
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.600 limited 1.000 4 1 2005 2016
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: 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: 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: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.020 None 1.000 2 2014 2016
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.020 None 1.000 2 2017 2019
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.020 None 1.000 2 1999 2012
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.020 None 1.000 2 2014 2016
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2015 2015
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.010 None 1.000 1 2007 2007
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		disease Mental or Behavioral Dysfunction 108 21 0.010 None 1.000 1 1 2016 2016
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2015 2015
CUI: C0279748
Disease: Undifferentiated carcinoma of nasopharynx
Undifferentiated carcinoma of nasopharynx 		disease Neoplastic Process 23 0.010 None 1.000 1 2017 2017
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: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2011 2011