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: 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: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 2020 2020
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder
group Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 188 19 0.010 None 1.000 1 2018 2018
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration
disease Musculoskeletal Diseases Disease or Syndrome 342 47 0.010 None 1.000 1 2018 2018
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 86 30 0.010 None 1.000 1 2014 2014
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 877 43 0.010 None 1.000 1 2019 2019
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 323 13 0.010 None 1.000 1 1994 1994
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 38 0.010 None 1.000 1 2006 2006
CUI: C0238644
Disease: Anemia, severe
Anemia, severe
disease Hemic and Lymphatic Diseases Disease or Syndrome 65 6 0.010 None 1.000 1 2005 2005
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system
group Musculoskeletal Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2015 2015
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2019 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2016 2016
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 485 24 0.010 None 1.000 1 2019 2019
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes
disease Disease or Syndrome 41 0.010 None 1.000 1 2006 2006
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2019 2019
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 216 12 0.010 None 1.000 1 2001 2001
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired
phenotype Nervous System Diseases Sign or Symptom 60 12 0.010 None 1.000 1 2020 2020
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.010 None 1.000 1 2017 2017
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 1983 1983
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 49 45 0.010 None 1.000 1 2012 2012
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 70 59 0.010 None 1.000 1 2012 2012
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2019 2019
Metaphyseal chondrodysplasia Schmid type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 16 0.010 None 1.000 1 2014 2014
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
disease Disease or Syndrome 49 13 0.010 None 1.000 1 2006 2006
CUI: C0332885
Disease: Congenital stenosis
Congenital stenosis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 0.010 None 1.000 1 2007 2007