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.
Aspirin exacerbated respiratory disease
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 94 32 0.010 None 1.000 1 2020 2020
Large-artery atherosclerosis (embolus/thrombosis)
disease Disease or Syndrome 48 35 0.020 None 1.000 2 2019 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2019 2019
CUI: C0021296
Disease: Infant, Small for Gestational Age
Infant, Small for Gestational Age
phenotype Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
Depressive Disorder, Treatment-Resistant
disease Mental Disorders Mental or Behavioral Dysfunction 66 19 0.010 None 1.000 1 2019 2019
Amputated structure (morphologic abnormality)
phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2019 2019
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 132 81 0.010 None 1.000 1 2019 2019
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis
disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 183 40 0.010 None 1.000 1 2019 2019
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 687 123 0.010 None 1.000 1 2019 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 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: C0406317
Disease: Chronic small plaque psoriasis
Chronic small plaque psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 82 3 0.010 None 1.000 1 2019 2019
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 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: C2945695
Disease: Limb ischemia
Limb ischemia
disease Disease or Syndrome 171 3 0.010 None 1.000 1 2019 2019
Cardioembolism (high-risk/medium-risk)
disease Disease or Syndrome 16 4 0.010 None 1.000 1 2019 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2019 2019
CUI: C0024586
Disease: Malignant Carcinoid Syndrome
Malignant Carcinoid Syndrome
disease Neoplasms Disease or Syndrome 25 0.010 None 1.000 1 2019 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 1 2018 2018
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.020 None 1.000 2 2018 2018
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.010 None 1.000 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C0341117
Disease: Esophageal erosions
Esophageal erosions
disease Digestive System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 77 12 0.010 None 1.000 1 2018 2018
ST-segment elevation myocardial infarction (STEMI)
disease Disease or Syndrome 51 2 0.010 None 1.000 1 2018 2018