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: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic
disease Neoplasms Disease or Syndrome 11 0.010 None < 0.001 1 2019 2019
CUI: C0008493
Disease: Hydatidiform Mole, Invasive
Hydatidiform Mole, Invasive
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 10 0.010 None < 0.001 1 2017 2017
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.010 None < 0.001 1 2019 2019
CUI: C0017152
Disease: Gastritis
Gastritis
disease Digestive System Diseases Disease or Syndrome 292 21 0.010 None < 0.001 1 2017 2017
CUI: C0018552
Disease: Hamartoma
Hamartoma
disease Neoplasms Neoplastic Process 91 8 0.010 None < 0.001 1 2017 2017
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 65 11 0.010 None < 0.001 1 2017 2017
CUI: C0038833
Disease: Superior Vena Cava Syndrome
Superior Vena Cava Syndrome
disease Cardiovascular Diseases Disease or Syndrome 3 0.010 None < 0.001 1 2018 2018
CUI: C0149978
Disease: Adenocarcinoma of rectum
Adenocarcinoma of rectum
disease Digestive System Diseases; Neoplasms Neoplastic Process 103 1 0.010 None < 0.001 1 2019 2019
CUI: C0558355
Disease: Tonsillar Carcinoma
Tonsillar Carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 23 0.010 None < 0.001 1 2019 2019
CUI: C0585129
Disease: Retroperitoneal sarcoma
Retroperitoneal sarcoma
disease Neoplasms Neoplastic Process 8 0.010 None < 0.001 1 2019 2019
Secondary malignant neoplasm of axilla
disease Neoplastic Process 10 0.010 None < 0.001 1 2017 2017
CUI: C0746105
Disease: Chronic interstitial lung disease
Chronic interstitial lung disease
disease Respiratory Tract Diseases Disease or Syndrome 3 0.010 None < 0.001 1 2017 2017
CUI: C0748607
Disease: Recurrent seizure
Recurrent seizure
disease Nervous System Diseases Disease or Syndrome 44 1 0.010 None < 0.001 1 2018 2018
CUI: C0751560
Disease: Malignant neoplasm tonsil
Malignant neoplasm tonsil
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 22 0.010 None < 0.001 1 2019 2019
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 185 2 0.010 None < 0.001 1 2018 2018
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.020 None 0.500 2 2018 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.020 None 0.500 2 2017 2019
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
group Infections Disease or Syndrome 616 17 0.020 None 0.500 2 2017 2019
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.020 None 0.500 2 2019 2020
CUI: C0027121
Disease: Myositis
Myositis
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.020 None 0.500 2 2019 2019
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 39 5 0.020 None 0.500 2 2018 2018
CUI: C1142550
Disease: Native valve endocarditis
Native valve endocarditis
disease Cardiovascular Diseases Disease or Syndrome 4 0.020 None 0.500 2 2018 2019
Stage IV Cutaneous Melanoma AJCC v6 and v7
disease Neoplastic Process 26 4 0.020 None 0.500 2 2018 2018
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
group Neoplasms Neoplastic Process 699 32 0.020 None 0.500 2 2017 2018
CUI: C0340359
Disease: Prosthetic valve endocarditis
Prosthetic valve endocarditis
disease Cardiovascular Diseases Disease or Syndrome 4 0.060 None 0.667 6 2017 2020