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: C0424574
Disease: Duration of sleep
Duration of sleep
phenotype Finding 104 203 0.100 None 1.000 2 2 2019 2019
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 66 26 0.010 None 1.000 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 68 11 0.010 None 1.000 1 2019 2019
Behavioral syndrome associated with physiological disturbance and physical factors
disease Mental Disorders Mental or Behavioral Dysfunction 8 2 0.010 None 1.000 1 2019 2019
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.010 None 1.000 1 2019 2019
CUI: C0020097
Disease: HTLV-I Infections
HTLV-I Infections
group Infections; Immune System Diseases Disease or Syndrome 134 5 0.010 None 1.000 1 2019 2019
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy
disease Nervous System Diseases Disease or Syndrome 10 7 0.010 None 1.000 1 2019 2019
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder
group Hemic and Lymphatic Diseases Disease or Syndrome 288 22 0.010 None 1.000 1 2019 2019
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2019 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2018 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction
disease Nervous System Diseases Disease or Syndrome 45 0.010 None 1.000 1 2018 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 3 2018 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2018 2018
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.010 None 1.000 1 2018 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2018 2018
Early infantile epileptic encephalopathy with suppression bursts
disease Nervous System Diseases Disease or Syndrome 81 10 0.300 strong 1.000 2 2017 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
disease Nervous System Diseases Disease or Syndrome 12 30 0.300 strong 1.000 2 2017 2019
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.020 None 1.000 2 2017 2018
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.010 None 1.000 1 2017 2017
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
phenotype Sign or Symptom 69 23 0.010 None 1.000 1 2017 2017
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2017 2017
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2017 2017