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: 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: 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: C4310880
Disease: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C1096250
Disease: Gastrointestinal discomfort
Gastrointestinal discomfort 		phenotype Sign or Symptom 4 0.010 None 1.000 1 2017 2017
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 9 25 0.020 None 1.000 2 2017 2018
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 11 0.020 None 1.000 2 2017 2018
CUI: C3553774
Disease: INTERSTITIAL NEPHRITIS, KARYOMEGALIC
INTERSTITIAL NEPHRITIS, KARYOMEGALIC 		disease Disease or Syndrome 9 11 0.010 None 1.000 1 2018 2018
CUI: C3495890
Disease: Osteochondral defects
Osteochondral defects 		phenotype Anatomical Abnormality 17 0.010 None 1.000 1 2019 2019
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		disease Congenital Abnormality 19 18 0.410 strong 1.000 2 1 2016 2016
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 23 6 0.410 strong 1.000 2 2 2016 2016
CUI: C1096293
Disease: Macroangiopathy
Macroangiopathy 		disease Disease or Syndrome 31 6 0.010 None < 0.001 1 2020 2020
CUI: C4728082
Disease: Severe hypoglycaemia
Severe hypoglycaemia 		disease Disease or Syndrome 36 2 0.010 None < 0.001 1 2017 2017
CUI: C0016977
Disease: Gall Bladder Diseases
Gall Bladder Diseases 		group Digestive System Diseases Disease or Syndrome 42 4 0.010 None 1.000 1 2019 2019
CUI: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 42 16 0.010 None 1.000 1 2019 2019
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease Digestive System Diseases Disease or Syndrome 55 3 0.010 None 1.000 1 2019 2019
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: 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: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity 		phenotype Disease or Syndrome 75 2 0.020 None 1.000 2 2018 2020
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: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases 		group Digestive System Diseases Disease or Syndrome 100 11 0.010 None 1.000 1 2018 2018
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		phenotype Laboratory Procedure 100 150 0.100 None 1.000 1 1 2016 2016
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
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		phenotype Laboratory Procedure 139 296 0.100 None 1.000 1 1 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: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 2019 2019