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: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.010 None 1.000 1 2018 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2012 2012
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 2019 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2012 2012
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2019 2019
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1043 127 0.010 None 1.000 1 2019 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.010 None 1.000 1 2018 2018
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 83 46 0.010 None 1.000 1 1996 1996
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion
disease Cardiovascular Diseases Disease or Syndrome 98 10 0.010 None 1.000 1 2017 2017
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2020 2020
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma
disease Neoplasms Neoplastic Process 282 21 0.010 None 1.000 1 2002 2002
CUI: C0027830
Disease: neurofibroma
neurofibroma
disease Neoplasms; Nervous System Diseases Neoplastic Process 125 5 0.010 None 1.000 1 2017 2017
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.010 None 1.000 1 2002 2002
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: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 79 4 0.010 None 1.000 1 2007 2007
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 2019 2019
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
disease Neoplasms Neoplastic Process 786 118 0.010 None 1.000 1 2019 2019
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 2017 2017
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 191 67 0.010 None 1.000 1 2017 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2017 2017
CUI: C1868938
Disease: End stage cardiac failure
End stage cardiac failure
disease Disease or Syndrome 76 2 0.010 None 1.000 1 2014 2014
CUI: C4551627
Disease: Granulocytopenic disorder
Granulocytopenic disorder
disease Hemic and Lymphatic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2017 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2017 2017
CUI: C1142430
Disease: Psychogenic seizure
Psychogenic seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1 0.010 None < 0.001 1 2018 2018
CUI: C1112768
Disease: Anterior subcapsular cataract
Anterior subcapsular cataract
disease Disease or Syndrome 10 0.010 None 1.000 1 2019 2019