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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2020 2020
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.060 None 1.000 6 1998 2019
CUI: C0266305
Disease: Fused Kidney
Fused Kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 1 0.050 None 1.000 5 2006 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.030 None 1.000 3 2006 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.030 None 1.000 3 2006 2013
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.020 None 1.000 2 2017 2019
CUI: C0003615
Disease: Appendicitis
Appendicitis 		disease Digestive System Diseases; Infections Disease or Syndrome 83 10 0.010 None 1.000 1 2013 2013
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.010 None 1.000 1 2013 2013
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2012 2012
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.010 None 1.000 1 2011 2011
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 95 34 0.010 None 1.000 1 1993 1993
CUI: C0085693
Disease: Acute appendicitis NOS (disorder)
Acute appendicitis NOS (disorder) 		disease Digestive System Diseases; Infections Disease or Syndrome 43 2 0.010 None 1.000 1 2013 2013
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2007 2007
CUI: C0546483
Disease: Lung cyst
Lung cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx) 		disease Disease or Syndrome 94 5 0.010 None 1.000 1 2018 2018
CUI: C0878681
Disease: Dent's disease
Dent's disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 12 0.010 None 1.000 1 1993 1993
CUI: C1402291
Disease: Pigmented lesions
Pigmented lesions 		disease Disease or Syndrome 18 3 0.010 None 1.000 1 2017 2017
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2017 2017
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.020 None 1.000 2 2019 2020
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2020 2020
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.500 None 0.983 120 1996 2020
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 0.400 None 0.988 82 2001 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.946 74 2001 2020
CUI: C0206657
Disease: Alveolar Soft Part Sarcoma
Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 61 0.400 None 1.000 48 2001 2020