NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
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: C4021776
Disease: Abnormality of the voice
Abnormality of the voice
disease Finding 64 0.100 None 0
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses
phenotype Finding 9 1 0.100 None 0
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 50 58 0.100 None 0 1
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis
disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.310 None 1.000 3 2016 2018
CUI: C2930971
Disease: Acroosteolysis dominant type
Acroosteolysis dominant type
disease Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 1 2011 2011
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2013 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.040 None 0.750 4 2012 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.030 None 0.667 3 2012 2018
CUI: C1569637
Disease: Adenocarcinoma, Endometrioid
Adenocarcinoma, Endometrioid
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 130 4 0.010 None 1.000 1 2017 2017
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 325 30 0.010 None 1.000 1 2017 2017
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.010 None 1.000 1 2019 2019
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 475 7 0.010 None 1.000 1 2014 2014
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 504 46 0.010 None 1.000 1 2009 2009
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.050 None 1.000 5 2013 2018
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.020 None 1.000 2 2012 2014
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma
disease Neoplasms Neoplastic Process 154 19 0.020 None 1.000 2 2007 2009
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer
disease Neoplastic Process 59 9 0.010 None 1.000 1 2017 2017
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 117 12 0.050 None 1.000 5 2004 2017
CUI: C0699949
Disease: airway disease
airway disease
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 198 1 0.010 None 1.000 1 2015 2015
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Congenital Abnormality 38 18 0.500 None 0.944 18 8 2006 2019
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 2 48 0.300 None 0
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 2 3 0.700 None 1.000 5 3 2006 2012
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma
disease Neoplasms Neoplastic Process 174 4 0.010 None 1.000 1 2010 2010
CUI: C0002793
Disease: Anaplasia
Anaplasia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.020 None 1.000 2 2013 2015