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: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 33 12 0.310 limited 1.000 1 2014 2018
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 96 15 0.110 None 1.000 1 2018 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1686 635 0.100 None 0.952 21 1984 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 904 157 0.100 None 0.909 11 1987 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1679 213 0.080 None 0.875 8 1984 2018
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 59 4 0.060 None 1.000 6 1984 2018
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 525 44 0.050 None 1.000 5 1993 2019
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		disease Skin and Connective Tissue Diseases Disease or Syndrome 547 46 0.050 None 1.000 5 1993 2019
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 305 5 0.050 None 0.800 5 1987 2019
CUI: C0021400
Disease: Influenza
Influenza 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 817 17 0.050 None 1.000 5 2011 2019
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 557 44 0.050 None 1.000 5 1993 2019
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 168 14 0.030 None 1.000 3 1990 1997
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 308 25 0.020 None 1.000 2 2009 2017
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 992 66 0.020 None 1.000 2 2001 2017
CUI: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.020 None 1.000 2 2010 2018
CUI: C0034735
Disease: Raynaud Phenomenon
Raynaud Phenomenon 		disease Cardiovascular Diseases Disease or Syndrome 40 1 0.020 None 1.000 2 2018 2018
CUI: C4527152
Disease: Tricuspid Valve Regurgitation Velocity
Tricuspid Valve Regurgitation Velocity 		phenotype Sign or Symptom 9 0.010 None 1.000 1 2019 2019
CUI: C0375024
Disease: Hantavirus infection in conditions classified elsewhere and of unspecified site
Hantavirus infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 21 1 0.010 None 1.000 1 2007 2007
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1459 269 0.010 None 1.000 1 2019 2019
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 54 12 0.010 None 1.000 1 2001 2001
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		group Infections Disease or Syndrome 108 10 0.010 None 1.000 1 2007 2007
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		disease Digestive System Diseases Disease or Syndrome 190 22 0.010 None 1.000 1 2005 2005
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 191 22 0.010 None 1.000 1 2005 2005
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		group Respiratory Tract Diseases Disease or Syndrome 277 32 0.010 None 1.000 1 2019 2019
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 107 15 0.010 None 1.000 1 2017 2017