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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 208 28 0.100 None 0
CUI: C0151603
Disease: Anasarca
Anasarca 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.100 None 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 45 7 0.100 None 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		phenotype Finding 13 0.100 None 0
CUI: C0151604
Disease: Genital Edema
Genital Edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 1 0.100 None 0
CUI: C3806125
Disease: Increased red cell hemolysis by shear stress
Increased red cell hemolysis by shear stress 		phenotype Hemic and Lymphatic Diseases Finding 1 0.100 None 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 78 19 0.100 None 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4552908
Disease: Genital Edema, CTCAE
Genital Edema, CTCAE 		phenotype Finding 1 0.100 None 0
CUI: C0003962
Disease: Ascites
Ascites 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 198 7 0.100 None 0
CUI: C4554651
Disease: Generalized Edema, CTCAE
Generalized Edema, CTCAE 		phenotype Finding 12 0.100 None 0
CUI: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		phenotype Finding 22 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.050 None 0.800 5 2001 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.040 None 1.000 4 2016 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2015 2018
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 6 0.030 None 1.000 3 2015 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.020 None 1.000 2 1999 2018
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.020 None 1.000 2 2018 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.020 None 0.500 2 2018 2018