Source: BEFREE ×
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.
Biventricular congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C4551487
Disease: Submucous cleft palate
Submucous cleft palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 9 0.020 None 1.000 2 2004 2015
CUI: C0751699
Disease: Minimally Conscious State
Minimally Conscious State
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
Ullrich congenital muscular dystrophy 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 3 0.010 None 1.000 1 2005 2005
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2018 2018
CUI: C0023222
Disease: Pain in lower limb
Pain in lower limb
phenotype Sign or Symptom 22 0.030 None 1.000 3 2017 2020
CUI: C3890602
Disease: Bodily Pain
Bodily Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 22 4 0.010 None 1.000 1 2019 2019
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
disease Musculoskeletal Diseases Anatomical Abnormality 25 0.010 None 1.000 1 2017 2017
CUI: C0007859
Disease: Neck Pain
Neck Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 28 3 0.010 None 1.000 1 2017 2017
CUI: C0235162
Disease: Difficulty sleeping
Difficulty sleeping
phenotype Mental Disorders Sign or Symptom 39 3 0.010 None 1.000 1 2018 2018
CUI: C2830004
Disease: Somnolence
Somnolence
phenotype Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 58 7 0.010 None 1.000 1 2018 2018
CUI: C0004604
Disease: Back Pain
Back Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 67 3 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 2018 2018
Behavioral and psychological symptoms of dementia
phenotype Sign or Symptom 72 9 0.010 None 1.000 1 2019 2019
CUI: C0815107
Disease: psychological distress
psychological distress
disease Mental or Behavioral Dysfunction 87 10 0.010 None 1.000 1 2019 2019
CUI: C0338831
Disease: Manic
Manic
disease Mental Disorders Mental or Behavioral Dysfunction 103 8 0.010 None 1.000 1 2018 2018
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom 104 14 0.010 None 1.000 1 2019 2019
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 110 44 0.010 None 1.000 1 2018 2018
Pituitary-dependent Cushing's disease
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 111 3 0.010 None 1.000 1 2019 2019
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 132 33 0.010 None 1.000 1 2018 2018
CUI: C0917801
Disease: Sleeplessness
Sleeplessness
phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 137 27 0.010 None 1.000 1 2018 2018
Mixed anxiety and depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 146 13 0.020 None 1.000 2 2018 2019
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2012 2012
CUI: C0033375
Disease: Prolactinoma
Prolactinoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 179 5 0.010 None < 0.001 1 2019 2019
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 207 38 0.010 None 1.000 1 2018 2018