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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 2 2015 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 strong 2 2015 2018
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 252 7 0.300 strong 2 2015 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 311 176 0.130 1.000 5 5 2007 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1832 1878 0.120 1.000 3 2 2009 2010
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.110 1.000 3 2 2007 2015
CUI: C0004096
Disease: Asthma
Asthma
disease Immune System Diseases; Respiratory Tract Diseases Disease or Syndrome 1312 729 0.100 2 2 2011 2011
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 910 451 0.100 2 1 2012 2016
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 197 16 0.100 1 1 2015 2015
CUI: C1963137
Disease: Hydrocephalus Adverse Event
Hydrocephalus Adverse Event
phenotype Pathologic Function 7 7 0.100 1 1 2015 2015
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 176 357 0.100 1 1 2017 2017
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder
group Respiratory Tract Diseases Disease or Syndrome 106 4 0.100 1 1 2015 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1105 745 0.100 1 1 2012 2012
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 399 4 0.100 1 1 2015 2015
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
group Immune System Diseases Disease or Syndrome 249 160 0.100 1 5 2011 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 914 696 0.100 1 3 2016 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 911 956 0.100 1 2 2016 2016
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 79 5 0.100 1 1 2015 2015
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease Digestive System Diseases Disease or Syndrome 139 284 0.100 1 1 2012 2012
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity
group Immune System Diseases Pathologic Function 184 964 0.100 1 2 2013 2013
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 5 0.020 1.000 2 1988 2001
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state
phenotype Mental or Behavioral Dysfunction 13 0.010 1.000 1 2001 2001
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 181 3 0.010 1.000 1 2001 2001
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 2 0.010 1.000 1 2001 2001