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: C0242381
Disease: Lyme Arthritis
Lyme Arthritis
disease Infections Disease or Syndrome 57 0.010 None 1.000 1 2006 2006
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.010 None < 0.001 1 2019 2019
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 49 30 0.010 None 1.000 1 2016 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2017 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2015 2015
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 41 83 0.010 None 1.000 1 2016 2016
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder
group Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 188 19 0.010 None 1.000 1 2014 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2006 2006
CUI: C0001883
Disease: Airway Obstruction
Airway Obstruction
group Respiratory Tract Diseases Disease or Syndrome 110 5 0.010 None 1.000 1 2019 2019
CUI: C0007682
Disease: CNS disorder
CNS disorder
group Nervous System Diseases Disease or Syndrome 319 11 0.010 None 1.000 1 2017 2017
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.010 None 1.000 1 2014 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2017 2017
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 2017 2017
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 5 6 0.010 None 1.000 1 2001 2001
CUI: C0019270
Disease: Hernia
Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.010 None 1.000 1 2011 2011
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
disease Neoplasms Neoplastic Process 385 8 0.010 None 1.000 1 2001 2001
CUI: C0242362
Disease: Disk, Herniated
Disk, Herniated
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 31 0.010 None 1.000 1 2006 2006
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.010 None 1.000 1 2016 2016
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2017 2017
CUI: C0021818
Disease: Intervertebral Disk Displacement
Intervertebral Disk Displacement
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 35 0.010 None 1.000 1 2006 2006
CUI: C0024031
Disease: Low Back Pain
Low Back Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 88 11 0.010 None 1.000 1 2014 2014
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2017 2017
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2015 2015
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture
disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 22 0.010 None 1.000 1 2017 2017
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype Finding 216 16 0.100 None 0