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 0.070 None 1.000 7 2012 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.030 None 1.000 3 2010 2018
Squamous cell carcinoma of the hypopharynx
disease Neoplastic Process 103 3 0.010 None 1.000 1 2020 2020
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.010 None 1.000 1 2009 2009
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2016 2016
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.010 None 1.000 1 2007 2007
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
phenotype Anatomical Abnormality 78 37 0.010 None < 0.001 1 2019 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2019 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.300 None 1.000 1 2009 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.300 None 1.000 1 2009 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2018 2018
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure
disease Cardiovascular Diseases Disease or Syndrome 123 5 0.300 None 1.000 1 2009 2009
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided
disease Cardiovascular Diseases Disease or Syndrome 154 0.300 None 1.000 1 2009 2009
CUI: C1959583
Disease: Myocardial Failure
Myocardial Failure
disease Cardiovascular Diseases Disease or Syndrome 119 0.300 None 1.000 1 2009 2009
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation
phenotype Cardiovascular Diseases Pathologic Function 113 0.300 None 1.000 1 2009 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2014 2014
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.020 None 1.000 2 2013 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.010 None 1.000 1 2019 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.010 None 1.000 1 2017 2017
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.010 None < 0.001 1 2019 2019
CUI: C1854181
Disease: FIBROMATOSIS, GINGIVAL, 2
FIBROMATOSIS, GINGIVAL, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1254 270 0.040 None 1.000 4 2011 2018
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.040 None 1.000 4 2011 2018
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.040 None 1.000 4 2011 2018