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.
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 2 2 2016 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.100 None 1.000 2 1 2012 2017
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2017 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.100 None 1.000 1 1 2015 2015
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 2 2016 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.100 None 1.000 1 1 2015 2015
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.100 None 1.000 1 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: C0857490
Disease: Granulocyte count
Granulocyte count
phenotype Laboratory Procedure 100 150 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: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.100 None 1.000 1 1 2019 2019
CUI: C0242216
Disease: Biliary calculi
Biliary calculi
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.100 None 1.000 1 1 2018 2018
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
phenotype Laboratory Procedure 145 234 0.100 None 1.000 1 1 2016 2016
CUI: C1851936
Disease: Paroxysmal choreoathetosis
Paroxysmal choreoathetosis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.100 None 0
CUI: C0684219
Disease: Myokymia
Myokymia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 2 0.100 None 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 0.100 None 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE
phenotype Finding 117 0.100 None 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.100 None 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C3809827
Disease: Staring gaze
Staring gaze
phenotype Finding 16 1 0.100 None 0
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0