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: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.200 None 1.000 24 5 1997 2018
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.040 None 0.750 4 2004 2015
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 4 4 2010 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 2 2018 2018
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		phenotype Laboratory Procedure 223 371 0.100 None 1.000 2 2 2012 2016
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 61 4 0.110 None 1.000 1 1999 1999
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		phenotype Laboratory Procedure 134 200 0.100 None 1.000 1 2 2016 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 1.000 1 3 2019 2019
CUI: C0040100
Disease: Thymoma
Thymoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 20 0.010 None 1.000 1 2008 2008
CUI: C0040115
Disease: Thymus Hyperplasia
Thymus Hyperplasia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 30 1 0.010 None 1.000 1 2015 2015
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2017 2017
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.010 None 1.000 1 2004 2004
CUI: C4023154
Disease: Impaired ristocetin-induced platelet aggregation
Impaired ristocetin-induced platelet aggregation 		phenotype Pathologic Function 6 1 0.100 None 1.000 1 1 2019 2019
CUI: C0947912
Disease: Myasthenias
Myasthenias 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 3 0.110 None 1.000 1 2015 2015
CUI: C0393934
Disease: Slow channel syndrome
Slow channel syndrome 		disease Nervous System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 1 2006 2006
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.100 None 1.000 1 2 2019 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.100 None 1.000 1 1 2011 2011
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.010 None 1.000 1 2019 2019
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		phenotype Finding 44 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		phenotype Finding 18 0.100 None 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 16 0.100 None 0