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: C0017572
Disease: Gingival Recession
Gingival Recession 		disease Stomatognathic Diseases Disease or Syndrome 14 1 0.030 None 1.000 3 2018 2018
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 16 22 0.010 None 1.000 1 2008 2008
CUI: C0025290
Disease: Aseptic Meningitis
Aseptic Meningitis 		disease Nervous System Diseases Disease or Syndrome 17 0.010 None 1.000 1 2014 2014
CUI: C0026636
Disease: Mouth Diseases
Mouth Diseases 		group Stomatognathic Diseases Disease or Syndrome 17 0.300 None 1.000 1 2007 2007
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 22 13 0.010 None 1.000 1 2013 2013
CUI: C1739405
Disease: CML progression
CML progression 		disease Neoplastic Process 47 3 0.010 None 1.000 1 2013 2013
CUI: C0023055
Disease: Laryngeal neoplasm
Laryngeal neoplasm 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 49 1 0.010 None 1.000 1 2017 2017
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder 		disease Musculoskeletal Diseases Disease or Syndrome 80 0.010 None 1.000 1 2018 2018
CUI: C0035920
Disease: Rubella
Rubella 		disease Infections Disease or Syndrome 82 11 0.020 None 1.000 2 2010 2017
CUI: C4725671
Disease: High-Risk Neuroblastoma
High-Risk Neuroblastoma 		disease Neoplasms Neoplastic Process 99 4 0.010 None 1.000 1 2014 2014
CUI: C0686377
Disease: CNS metastases
CNS metastases 		phenotype Neoplasms; Nervous System Diseases Neoplastic Process 102 14 0.010 None 1.000 1 2014 2014
CUI: C0014173
Disease: Endometrial Hyperplasia
Endometrial Hyperplasia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 143 6 0.010 None 1.000 1 2018 2018
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.010 None 1.000 1 2018 2018
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 159 7 0.010 None 1.000 1 2017 2017
CUI: C0553694
Disease: Oropharyngeal disorders
Oropharyngeal disorders 		group Digestive System Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 3 0.010 None 1.000 1 2019 2019
CUI: C0856742
Disease: Post MI
Post MI 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 203 4 0.010 None 1.000 1 2017 2017
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.010 None 1.000 1 2000 2000
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 229 12 0.010 None < 0.001 1 2016 2016
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 299 14 0.010 None 1.000 1 2013 2013
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.020 None 1.000 2 2005 2007
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 349 50 0.010 None 1.000 1 2017 2017
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.080 None 1.000 8 2017 2020
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 2013 2013
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 10 2012 2012