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: 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2009 2019
CUI: C0151603
Disease: Anasarca
Anasarca 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2018 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.030 None 1.000 3 2013 2019
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.100 None 0
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.100 None 1.000 1 1 2015 2015
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.010 None 1.000 1 2014 2014
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: 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: C2749515
Disease: Collapsing glomerulopathy
Collapsing glomerulopathy 		disease Disease or Syndrome 10 0.010 None 1.000 1 2013 2013
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2018 2018
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C2219848
Disease: Daytime somnolence
Daytime somnolence 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2018 2018
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 1.000 1 1 2017 2017
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: C0700201
Disease: Dyssomnias
Dyssomnias 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.010 None 1.000 1 2018 2018
CUI: C0013604
Disease: Edema
Edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 0.100 None 0
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: C4023481
Disease: EEG with focal spikes
EEG with focal spikes 		phenotype Finding 4 0.100 None 0
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 77 14 0.020 None 1.000 2 2017 2018
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype Pathological Conditions, Signs and Symptoms Finding 43 10 0.100 None 0