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: C3554608
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 		disease Disease or Syndrome 1 1 0.600 moderate 1.000 1 1 2013 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.310 None 1.000 1 2018 2018
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.310 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 0.300 None 1.000 1 2011 2011
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.110 None 1.000 1 2017 2017
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		phenotype Finding 59 5 0.100 None 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		phenotype Finding 45 1 0.100 None 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2018 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.020 None 1.000 2 2018 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2019 2019
CUI: C0859918
Disease: Non-seminoma testicular cancer
Non-seminoma testicular cancer 		disease Neoplastic Process 5 0.010 None 1.000 1 2020 2020
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 128 62 0.010 None 1.000 1 2019 2019
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2018 2018
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.010 None 1.000 1 2018 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2019 2019
CUI: C0036631
Disease: Seminoma
Seminoma 		disease Neoplasms Neoplastic Process 311 12 0.010 None 1.000 1 2020 2020
CUI: C0085129
Disease: Bronchial Hyperreactivity
Bronchial Hyperreactivity 		disease Respiratory Tract Diseases Disease or Syndrome 112 18 0.010 None 1.000 1 2009 2009
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease Digestive System Diseases Disease or Syndrome 293 20 0.010 None 1.000 1 1 2017 2017
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 253 31 0.010 None 1.000 1 2019 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2018 2018