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.
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
disease Disease or Syndrome 1 6 0.700 None 1.000 1 6 2016 2016
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: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.330 None 1.000 3 2013 2019
Reticular Dystrophy Of Retinal Pigment Epithelium
disease Eye Diseases Disease or Syndrome 1 0.300 None 1.000 1 2016 2016
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 0.940 100 2017 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.100 None 1.000 24 2017 2020
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 1.000 23 2017 2020
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.100 None 0.952 21 2017 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.100 None 1.000 14 2017 2020
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
phenotype Laboratory Procedure 100 150 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: 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: 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: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
phenotype Laboratory Procedure 145 234 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: 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: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2016 2016
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.100 None 0
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
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.080 None 0.875 8 2017 2019
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.080 None 0.875 8 2017 2019
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.060 None 1.000 6 2017 2020