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: C0003119
Disease: Anophthalmos
Anophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.480 None 1.000 8 2007 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.050 None 1.000 5 2007 2016
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.440 None 1.000 5 2007 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2001 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.020 None 1.000 2 2017 2019
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.020 None 1.000 2 2013 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.420 None 1.000 2 2007 2009
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2017 2017
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2019 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2019 2019
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.010 None 1.000 1 2008 2008
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2007 2007
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2009 2009
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2019 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.300 None 1.000 1 2007 2007
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.010 None 1.000 1 2017 2017
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2009 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2017 2017
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2007 2007
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2008 2008
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.300 None 1.000 1 2008 2008
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2019 2019
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 533 8 0.010 None 1.000 1 2017 2017
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 0.010 None 1.000 1 2016 2016
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.010 None 1.000 1 2016 2016