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: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal
disease Eye Diseases Disease or Syndrome 34 28 0.010 None 1.000 1 2018 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2017 2017
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 50 7 0.010 None 1.000 1 2018 2018
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.010 None 1.000 1 2018 2018
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 4 0.010 None 1.000 1 2015 2015
CUI: C0238031
Disease: Breast Phyllodes Tumor
Breast Phyllodes Tumor
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2017 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2017 2017
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2015 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2013 2013
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2020 2020
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.010 None 1.000 1 2013 2013
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 48 138 0.010 None 1.000 1 2017 2017
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 2016 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.010 None 1.000 1 2016 2016
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2017 2017
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral
disease Infections Disease or Syndrome 197 22 0.010 None < 0.001 1 2018 2018
CUI: C0021290
Disease: Neonatal disorder
Neonatal disorder
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 15 4 0.010 None 1.000 1 2008 2008
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2010 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2011 2011
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2002 2002
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 46 0.010 None 1.000 1 2012 2012
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2018 2018
CUI: C0267446
Disease: Acute gastroenteritis
Acute gastroenteritis
disease Digestive System Diseases Disease or Syndrome 36 1 0.010 None 1.000 1 2012 2012
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.010 None 1.000 1 2017 2017