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: C4225206
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 		disease Disease or Syndrome 1 4 0.700 strong 1.000 1 4 2015 2015
CUI: C4020800
Disease: Decreased activity of mitochondrial complex IV
Decreased activity of mitochondrial complex IV 		phenotype Finding 6 0.100 None 0
CUI: C1839436
Disease: Severe lactic acidosis
Severe lactic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 8 1 0.100 None 0
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests 		phenotype Diagnostic Procedure 17 27 0.100 None 1.000 1 1 2010 2010
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		phenotype Finding 41 69 0.100 None 1.000 1 1 2016 2016
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		phenotype Finding 41 3 0.100 None 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		phenotype Finding 59 1 0.100 None 0
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom 62 7 0.100 None 0
CUI: C0006370
Disease: Bulimia
Bulimia 		disease Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 76 30 0.100 None 1.000 1 1 2018 2018
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		phenotype Laboratory Procedure 124 243 0.100 None 1.000 1 1 2018 2018
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		phenotype Finding 165 368 0.100 None 1.000 1 1 2019 2019
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		disease Finding 166 374 0.100 None 1.000 1 1 2019 2019
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		disease Finding 166 370 0.100 None 1.000 1 1 2019 2019
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		disease Finding 166 373 0.100 None 1.000 1 1 2019 2019
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 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: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 173 375 0.100 None 1.000 1 1 2019 2019
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 196 76 0.100 None 1.000 1 1 2018 2018
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 208 28 0.100 None 0
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2018 2018
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2018 2018
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.100 None 1.000 1 1 2019 2019