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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 2011 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 2011 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.040 None 0.750 4 2013 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.040 None 1.000 4 2011 2019
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.030 None 1.000 3 2013 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.020 None 1.000 2 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 0.020 None 1.000 2 2017 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.020 None 1.000 2 2019 2019
CUI: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 0.020 None 1.000 2 2009 2020
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 56 6 0.020 None 0.500 2 2017 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 0.500 2 2017 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.020 None 1.000 2 2019 2020
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 110 29 0.010 None 1.000 1 2018 2018
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None < 0.001 1 2018 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2018 2018
Secondary malignant neoplasm of colon and/or rectum
disease Digestive System Diseases; Neoplasms Neoplastic Process 397 68 0.010 None 1.000 1 2017 2017
Malignant neoplasm of gastrointestinal tract
disease Digestive System Diseases; Neoplasms Neoplastic Process 423 55 0.010 None 1.000 1 2018 2018
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
group Neoplasms Neoplastic Process 699 32 0.010 None 1.000 1 2009 2009
CUI: C0872084
Disease: Sarcopenia
Sarcopenia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10 0.010 None 1.000 1 2019 2019
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.010 None 1.000 1 2019 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
group Neoplasms Neoplastic Process 853 42 0.010 None 1.000 1 2009 2009
Non-ST Elevated Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 85 2 0.010 None 1.000 1 2019 2019
CUI: C4049272
Disease: Tumour budding
Tumour budding
disease Neoplastic Process 71 8 0.010 None 1.000 1 2018 2018
CUI: C1334665
Disease: Mediastinal Lymphoma
Mediastinal Lymphoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4 0.010 None 1.000 1 2020 2020
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.010 None 1.000 1 2013 2013