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: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 43 0.700 None 1.000 34 42 1991 2017
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 4 0.900 None 1.000 19 3 1990 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 10 2 1995 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.310 definitive 1.000 9 1993 2017
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 8 0.300 definitive 1.000 8 1993 2017
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 8 1993 2017
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 1 0.300 definitive 1.000 8 1993 2017
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 37 12 0.300 definitive 1.000 8 1993 2017
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 8 1993 2017
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 8 1993 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.330 None 1.000 4 2007 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.320 None 1.000 3 2011 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.030 None 1.000 3 2016 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.020 None 1.000 2 2018 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2019 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.010 None 1.000 1 2017 2017
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease Nervous System Diseases Disease or Syndrome 241 69 0.110 None 1.000 1 1 2019 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2015 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.300 None 1.000 1 2009 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2017 2017
CUI: C0034350
Disease: Pyruvate Metabolism, Inborn Errors
Pyruvate Metabolism, Inborn Errors 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 1 1990 1990
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 2012 2012
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2009 2009
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.010 None 1.000 1 2019 2019