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: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.070 None 1.000 7 2017 2019
CUI: C0234252
Disease: Mechanical pain
Mechanical pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 30 4 0.040 None 1.000 4 2018 2019
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 27 42 0.040 None 1.000 4 2014 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.130 None 1.000 3 2017 2020
CUI: C0270149
Disease: Perinatal respiratory distress
Perinatal respiratory distress
disease Disease or Syndrome 1 0.020 None 1.000 2 2016 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2018 2019
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.020 None 1.000 2 2012 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2018 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2016 2018
CUI: C0232066
Disease: Induced apnea
Induced apnea
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
disease Digestive System Diseases Disease or Syndrome 429 52 0.010 None 1.000 1 2017 2017
CUI: C0155765
Disease: Disease of capillaries
Disease of capillaries
group Cardiovascular Diseases Disease or Syndrome 61 5 0.010 None 1.000 1 2018 2018
CUI: C0151825
Disease: Bone pain
Bone pain
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.010 None 1.000 1 2017 2017
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.010 None 1.000 1 2017 2017
CUI: C0423729
Disease: Chest pain on breathing
Chest pain on breathing
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.010 None 1.000 1 2019 2019
CUI: C0036686
Disease: Gram positive sepsis
Gram positive sepsis
group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 5 1 0.010 None 1.000 1 2017 2017
CUI: C0030552
Disease: Paresis
Paresis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 2017 2017
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 6 0.300 None 1.000 1 2013 2013
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 21 0.010 None 1.000 1 2017 2017
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.110 None 1.000 1 2019 2019
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.110 None 1.000 1 2019 2019
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.010 None 1.000 1 2017 2017
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2018 2018
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 114 0.010 None 1.000 1 2018 2018
CUI: C1112616
Disease: Loss of proprioception
Loss of proprioception
phenotype Sign or Symptom 1 0.010 None 1.000 1 2016 2016