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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 1.000 1 1 2012 2012
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		phenotype Diagnostic Procedure 67 108 0.100 None 1.000 1 1 2012 2012
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2012 2012
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 296 9 0.010 None 1.000 1 2018 2018
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		disease Neoplasms Neoplastic Process 91 8 0.010 None 1.000 1 2017 2017
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2018 2018
CUI: C0279565
Disease: Invasive Lobular Breast Carcinoma
Invasive Lobular Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 88 0.010 None 1.000 1 2019 2019
CUI: C0278727
Disease: Small cell lung cancer recurrent
Small cell lung cancer recurrent 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 10 0.010 None 1.000 1 2018 2018
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		disease Neoplasms Neoplastic Process 185 7 0.010 None 1.000 1 2017 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2018 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.010 None 1.000 1 2019 2019
CUI: C0340293
Disease: Anterior myocardial infarction
Anterior myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 47 3 0.010 None 1.000 1 2017 2017
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 470 19 0.010 None 1.000 1 2018 2018
CUI: C0346429
Disease: Multiple malignancy
Multiple malignancy 		phenotype Neoplasms Neoplastic Process 163 3 0.010 None 1.000 1 2017 2017
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.010 None 1.000 1 2019 2019
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 558 44 0.010 None 1.000 1 2015 2015
CUI: C0423636
Disease: Cardiac pain
Cardiac pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.010 None 1.000 1 2017 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 2018 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2019 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2018 2018
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2018 2018
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2018 2018
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 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 2016 2016