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: C4285772
Disease: Delayed ischaemic neurological deficit
Delayed ischaemic neurological deficit 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0080276
Disease: Disorder of the genitourinary system
Disorder of the genitourinary system 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C2921125
Disease: Post traumatic seizures
Post traumatic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 7 0.010 None 1.000 1 2020 2020
CUI: C0002623
Disease: Post-traumatic amnesia
Post-traumatic amnesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 9 0.020 None 1.000 2 2017 2017
CUI: C0016397
Disease: Focal Infection
Focal Infection 		disease Infections Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C4688316
Disease: Refractory Breast Carcinoma
Refractory Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 13 0.010 None 1.000 1 2011 2011
CUI: C0343532
Disease: Streptococcal toxic shock syndrome
Streptococcal toxic shock syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 16 0.010 None 1.000 1 2004 2004
CUI: C0236075
Disease: Menopausal symptom
Menopausal symptom 		phenotype Sign or Symptom 17 4 0.010 None 1.000 1 2019 2019
CUI: C1864389
Disease: PREMATURE CHROMATID SEPARATION TRAIT
PREMATURE CHROMATID SEPARATION TRAIT 		disease Disease or Syndrome 19 10 0.010 None 1.000 1 2017 2017
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 182 0.020 None 1.000 2 2006 2011
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 48 0.010 None 1.000 1 2019 2019
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 24 2 0.010 None 1.000 1 2017 2017
CUI: C4048305
Disease: Neuroepithelioma
Neuroepithelioma 		disease Neoplastic Process 28 0.010 None 1.000 1 2003 2003
CUI: C0031350
Disease: Pharyngitis
Pharyngitis 		disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 30 0.010 None 1.000 1 2010 2010
CUI: C1292777
Disease: Aggressive natural killer-cell leukemia
Aggressive natural killer-cell leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 30 0.010 None 1.000 1 2013 2013
CUI: C0007384
Disease: Cataplexy
Cataplexy 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 36 5 0.010 None 1.000 1 2011 2011
CUI: C0521857
Disease: Increased drug resistance
Increased drug resistance 		phenotype Disease or Syndrome 47 0.010 None 1.000 1 2016 2016
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 48 124 0.020 None 1.000 2 2006 2013
CUI: C4284413
Disease: Severe Fever with Thrombocytopenia Syndrome
Severe Fever with Thrombocytopenia Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 1 0.010 None 1.000 1 2017 2017
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 56 13 0.010 None 1.000 1 2017 2017
CUI: C4723838
Disease: Metastatic Breast Carcinoma
Metastatic Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 61 1 0.010 None 1.000 1 2011 2011
CUI: C0011880
Disease: Diabetic Ketoacidosis
Diabetic Ketoacidosis 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 63 3 0.010 None 1.000 1 2019 2019
CUI: C0849640
Disease: skin damage
skin damage 		phenotype Sign or Symptom 64 0.010 None 1.000 1 2017 2017
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 66 1 0.010 None 1.000 1 2018 2018
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 76 4 0.010 None 1.000 1 2019 2019