Source: BEFREE ×
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: C1444844
Disease: Juvenile idiopathic arthritis, enthesitis related arthritis
Juvenile idiopathic arthritis, enthesitis related arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2014 2014
CUI: C0032241
Disease: Pleuropneumonia
Pleuropneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 5 3 0.010 None 1.000 1 1 2015 2015
CUI: C1290638
Disease: Resorption of apex of tooth root
Resorption of apex of tooth root 		disease Stomatognathic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2016 2016
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction 11 0.310 limited 1.000 1 2017 2018
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 30 5 0.010 None 1.000 1 2016 2016
CUI: C3495919
Disease: Enthesitis-Related Arthritis
Enthesitis-Related Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 42 2 0.010 None 1.000 1 2014 2014
CUI: C0032302
Disease: Mycoplasma pneumonia
Mycoplasma pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 43 2 0.010 None 1.000 1 2019 2019
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 63 6 0.010 None 1.000 1 2017 2017
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 65 6 0.010 None 1.000 1 2017 2017
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye 		disease Disease or Syndrome 68 1 0.010 None 1.000 1 2018 2018
CUI: C0011875
Disease: Diabetic Angiopathies
Diabetic Angiopathies 		disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 79 7 0.010 None 1.000 1 2017 2017
CUI: C0406317
Disease: Chronic small plaque psoriasis
Chronic small plaque psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 82 3 0.010 None 1.000 1 2012 2012
CUI: C1266025
Disease: Traditional Serrated Adenoma
Traditional Serrated Adenoma 		disease Neoplasms Neoplastic Process 90 2 0.010 None 1.000 1 2015 2015
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 121 3 0.010 None 1.000 1 2016 2016
CUI: C0022568
Disease: Keratitis
Keratitis 		disease Eye Diseases Disease or Syndrome 128 10 0.010 None 1.000 1 2017 2017
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 160 14 0.040 None 1.000 4 2013 2018
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 161 7 0.020 None 1.000 2 2018 2018
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 161 14 0.010 None 1.000 1 2017 2017
CUI: C1292753
Disease: Primary Effusion Lymphoma
Primary Effusion Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 166 0.010 None 1.000 1 2014 2014
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 168 29 0.010 None 1.000 1 2014 2014
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
Juvenile rheumatoid arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 183 10 0.010 None 1.000 1 2014 2014
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 194 16 0.010 None 1.000 1 2018 2018
CUI: C0276447
Disease: Rhinovirus infection
Rhinovirus infection 		disease Infections Disease or Syndrome 202 4 0.030 None 1.000 3 2012 2020
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		disease Digestive System Diseases Disease or Syndrome 208 23 0.010 None 1.000 1 2018 2018
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 209 25 0.010 None 1.000 1 2015 2015