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 0.620 strong 0.500 3 2010 2015
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 0.570 1.000 7 2010 2015
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 203 6 0.440 1.000 5 2010 2015
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.400 1 2010 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.330 1.000 3 2014 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.320 1.000 2 2008 2010
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.310 1.000 1 2011 2011
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.310 1.000 1 2011 2011
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 335 91 0.300 1.000 1 2010 2010
CUI: C0236736
Disease: Cocaine-Related Disorders
Cocaine-Related Disorders
group Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 112 0.300 1 2008 2008
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 296 20 0.300 1 2012 2012
Pulmonary Hypertension, Primary, Fenfluramine-Associated
disease Respiratory Tract Diseases Disease or Syndrome 7 10 0.300 1 2012 2012
PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED
disease Respiratory Tract Diseases Disease or Syndrome 7 13 0.300 1 2012 2012
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 1 2010 2010
CUI: C1862102
Disease: BRACHYDACTYLY, TYPE E1
BRACHYDACTYLY, TYPE E1
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 4 2 0.300 1 2015 2015
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 156 28 0.300 1 2008 2008
CUI: C0162351
Disease: Contact hypersensitivity
Contact hypersensitivity
phenotype Skin and Connective Tissue Diseases Pathologic Function 71 0.300 1 2015 2015
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 1 2010 2010
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia
disease Respiratory Tract Diseases Disease or Syndrome 7 10 0.300 1 2012 2012
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 127 2 0.300 1 2008 2008
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 334 2 0.300 1 2015 2015
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.300 1.000 1 2010 2010
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 86 3 0.300 1 2015 2015
Familial primary pulmonary hypertension
disease Respiratory Tract Diseases Disease or Syndrome 23 1 0.300 1 2012 2012
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 118 0.200 1 2013 2013