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: C0343890
Disease: Systemic cryptococcosis
Systemic cryptococcosis
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 7 0.010 None 1.000 1 2015 2015
CUI: C0206750
Disease: Coronavirus Infections
Coronavirus Infections
group Infections Disease or Syndrome 33 0.010 None 1.000 1 2018 2018
CUI: C0020877
Disease: Ileitis
Ileitis
disease Digestive System Diseases Disease or Syndrome 44 0.010 None 1.000 1 2017 2017
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.010 None 1.000 1 2018 2018
CUI: C1135191
Disease: Heart Failure, Systolic
Heart Failure, Systolic
disease Cardiovascular Diseases Disease or Syndrome 49 6 0.010 None 1.000 1 2014 2014
CUI: C0016514
Disease: Foot-and-Mouth Disease
Foot-and-Mouth Disease
group Infections; Animal Diseases Disease or Syndrome 56 0.010 None 1.000 1 2019 2019
CUI: C0006277
Disease: Bronchitis
Bronchitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 58 4 0.010 None 1.000 1 2019 2019
CUI: C0153252
Disease: Systemic candidiasis
Systemic candidiasis
disease Infections Disease or Syndrome 73 0.010 None 1.000 1 2013 2013
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 73 1 0.010 None 1.000 1 2018 2018
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2009 2009
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2009 2009
CUI: C0035869
Disease: Rotavirus Infections
Rotavirus Infections
group Infections Disease or Syndrome 84 0.010 None 1.000 1 2011 2011
CUI: C0008149
Disease: Chlamydia Infections
Chlamydia Infections
group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 88 10 0.010 None 1.000 1 2017 2017
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2009 2009
Heart failure with preserved ejection fraction [HFpEF]
disease Disease or Syndrome 89 4 0.010 None 1.000 1 2019 2019
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
disease Eye Diseases Acquired Abnormality 92 15 0.010 None 1.000 1 2015 2015
CUI: C0017160
Disease: Gastroenteritis
Gastroenteritis
disease Digestive System Diseases Disease or Syndrome 94 0.010 None 1.000 1 2018 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.010 None 1.000 1 2015 2015
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 113 22 0.010 None 1.000 1 2019 2019
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 113 9 0.010 None 1.000 1 2018 2018
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 115 14 0.010 None 1.000 1 2016 2016
CUI: C2349952
Disease: Oropharyngeal Carcinoma
Oropharyngeal Carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 115 15 0.010 None 1.000 1 2019 2019
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.010 None 1.000 1 2014 2014
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 129 16 0.010 None 1.000 1 2018 2018