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: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 8 2 2011 2019
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 7 5 2009 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 2 2018 2018
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2016 2016
CUI: C0162701
Disease: Polysomnography
Polysomnography
phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 1 2012 2012
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 2 2018 2018
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
phenotype Laboratory Procedure 96 212 0.100 None 1.000 1 1 2012 2012
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.020 None 1.000 2 2008 2010
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.010 None 1.000 1 2018 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2017 2017
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 1 2012 2012
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
group Mental Disorders Mental or Behavioral Dysfunction 328 49 0.010 None 1.000 1 2017 2017
CUI: C0002884
Disease: Hypochromic anemia
Hypochromic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 16 0.010 None 1.000 1 2011 2011
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.010 None 1.000 1 2018 2018
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 171 38 0.010 None 1.000 1 2008 2008
CUI: C0025500
Disease: Mesothelioma
Mesothelioma
disease Neoplasms Neoplastic Process 560 4 0.010 None 1.000 1 2018 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.010 None 1.000 1 2015 2015
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 1 2012 2012