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: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		disease Disease or Syndrome 1 3 0.700 None 1.000 4 3 2006 2016
CUI: C2219848
Disease: Daytime somnolence
Daytime somnolence 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2018 2018
CUI: C4022830
Disease: Heavy proteinuria
Heavy proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 2 0.100 None 0
CUI: C4023481
Disease: EEG with focal spikes
EEG with focal spikes 		phenotype Finding 4 0.100 None 0
CUI: C0393761
Disease: Middle insomnia
Middle insomnia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 6 1 0.010 None 1.000 1 2017 2017
CUI: C1850069
Disease: Undetectable visual evoked potentials
Undetectable visual evoked potentials 		phenotype Finding 6 1 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: C2749515
Disease: Collapsing glomerulopathy
Collapsing glomerulopathy 		disease Disease or Syndrome 10 0.010 None 1.000 1 2013 2013
CUI: C1850534
Disease: Edema, generalized
Edema, generalized 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Pathologic Function 12 0.100 None 0
CUI: C4554651
Disease: Generalized Edema, CTCAE
Generalized Edema, CTCAE 		phenotype Finding 12 0.100 None 0
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 0.020 None 1.000 2 2006 2018
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 0.010 None 1.000 1 2018 2018
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		disease Disease or Syndrome 23 7 0.010 None 1.000 1 2018 2018
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 0
CUI: C0028734
Disease: Nocturia
Nocturia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 28 0.010 None 1.000 1 2018 2018
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype Finding 38 19 0.100 None 0
CUI: C0151603
Disease: Anasarca
Anasarca 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.100 None 0
CUI: C0085623
Disease: Akinesia
Akinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 43 3 0.010 None 1.000 1 2018 2018
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype Pathological Conditions, Signs and Symptoms Finding 43 10 0.100 None 0
CUI: C4722328
Disease: Hereditary Prostate Carcinoma
Hereditary Prostate Carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 45 12 0.010 None 1.000 1 2005 2005
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 16 0.020 None 1.000 2 2018 2019
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		disease Nervous System Diseases Disease or Syndrome 46 27 0.010 None 1.000 1 2012 2012
CUI: C4551761
Disease: Excessive daytime sleepiness
Excessive daytime sleepiness 		phenotype Sign or Symptom 46 5 0.010 None 1.000 1 2018 2018
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		phenotype Finding 46 3 0.100 None 0
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function 51 205 0.100 None 1.000 1 1 2017 2017