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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.070 None 1.000 7 2 1993 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 7 2 1992 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.070 None 1.000 7 2 1993 2013
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.330 None 1.000 3 2007 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.120 None 1.000 2 2015 2016
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2013 2019
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.020 None 1.000 2 2 2019 2019
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 1 2008 2008
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 645 11 0.010 None 1.000 1 2010 2010
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 140 0.010 None 1.000 1 2008 2008
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2008 2008
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 756 184 0.010 None < 0.001 1 2008 2008
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: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2008 2008
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 0.110 None 1.000 1 2013 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0
CUI: C0028968
Disease: Olivopontocerebellar Atrophies
Olivopontocerebellar Atrophies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.100 None 0
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 111 4 0.100 None 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.100 None 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.030 None 1.000 3 2012 2018
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535 0.100 None 1.000 1 1 2018 2018
CUI: C0006625
Disease: Cachexia
Cachexia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.010 None 1.000 1 2013 2013
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.300 limited 1.000 1 2008 2008
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.300 None 1.000 1 2008 2008