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: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2010 2010
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 1999 1999
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 28 128 0.010 None 1.000 1 2012 2012
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		phenotype Laboratory Procedure 96 212 0.100 None 1.000 1 1 2012 2012
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2017 2017
CUI: C0018099
Disease: Gout
Gout 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.100 None 1.000 1 1 2013 2013
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 2013 2013
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 2006 2006
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.110 None 1.000 1 2009 2009
CUI: C1456276
Disease: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome) 		disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		phenotype Laboratory or Test Result 65 113 0.100 None 1.000 1 1 2012 2012
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		disease Nutritional and Metabolic Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 2009 2009
CUI: C0949855
Disease: Electron Transport Chain Deficiencies, Mitochondrial
Electron Transport Chain Deficiencies, Mitochondrial 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.300 None 1.000 1 2009 2009
CUI: C0878486
Disease: Arteriolosclerosis
Arteriolosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2017 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.300 None 1.000 1 2009 2009
CUI: C0549567
Disease: Pigmentation Disorders
Pigmentation Disorders 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 16 0.300 None 1.000 1 2009 2009
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2012 2012
CUI: C0442833
Disease: Arteriolar hyalinosis
Arteriolar hyalinosis 		disease Acquired Abnormality 7 0.010 None 1.000 1 2017 2017
CUI: C4021533
Disease: Severe sensorineural hearing impairment
Severe sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 5 0.010 None 1.000 1 1997 1997
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None < 0.001 1 2017 2017
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.100 None 1.000 1 1 2013 2013
CUI: C0036305
Disease: Schamberg Disease
Schamberg Disease 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.300 None 1.000 1 2009 2009
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.010 None 1.000 1 2004 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 1998 1998
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group Nervous System Diseases Disease or Syndrome 351 81 0.010 None 1.000 1 2018 2018