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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.100 None 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.100 None 0
CUI: C4310880
Disease: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		disease Disease or Syndrome 1 6 0.700 None 1.000 1 6 2016 2016
CUI: C1867332
Disease: Reticular Dystrophy Of Retinal Pigment Epithelium
Reticular Dystrophy Of Retinal Pigment Epithelium 		disease Eye Diseases Disease or Syndrome 1 0.300 None 1.000 1 2016 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2016 2016
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		phenotype Laboratory Procedure 100 150 0.100 None 1.000 1 1 2016 2016
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		phenotype Laboratory Procedure 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		phenotype Laboratory Procedure 145 234 0.100 None 1.000 1 1 2016 2016
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.100 None 1.000 1 4 2016 2016
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		phenotype Laboratory or Test Result 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None 1.000 1 2018 2018
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2019 2019
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 2019 2019
CUI: C0426576
Disease: Gastrointestinal symptom
Gastrointestinal symptom 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 69 7 0.010 None 1.000 1 2017 2017
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2018 2018
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom 62 7 0.010 None 1.000 1 2020 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2017 2017
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 2017 2017
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 95 7 0.010 None 1.000 1 2017 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.010 None 1.000 1 2019 2019
CUI: C0033300
Disease: Progeria
Progeria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.010 None 1.000 1 2019 2019