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.
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
disease Disease or Syndrome 3 5 0.010 None 1.000 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None < 0.001 1 2018 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2019 2019
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion
disease Disease or Syndrome 88 14 0.010 None 1.000 1 2019 2019
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2017 2017
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma
disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 504 30 0.010 None 1.000 1 2019 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2018 2018
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
Disseminated Malignant Neoplasm
phenotype Neoplasms Neoplastic Process 232 4 0.010 None 1.000 1 2018 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2018 2018
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia
disease Neoplastic Process 110 1 0.010 None 1.000 1 2019 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.010 None 1.000 1 2018 2018
CUI: C1735368
Disease: Acute dystonia
Acute dystonia
phenotype Sign or Symptom 4 0.010 None 1.000 1 2018 2018
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2018 2018
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 7 5 0.010 None 1.000 1 2018 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.010 None 1.000 1 2017 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2012 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2018 2018
CUI: C0020492
Disease: Hyperostosis
Hyperostosis
disease Musculoskeletal Diseases Disease or Syndrome 50 3 0.010 None 1.000 1 2018 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.010 None 1.000 1 2019 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 146 349 0.010 None 1.000 1 2017 2017
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.010 None 1.000 1 2012 2012
CUI: C0006625
Disease: Cachexia
Cachexia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.010 None 1.000 1 2018 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2018 2018
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2018 2018
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
group Musculoskeletal Diseases Disease or Syndrome 317 10 0.010 None 1.000 1 2018 2018