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.
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne
disease Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 21 7 0.800 None 1.000 21 3 2002 2019
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum
disease Skin and Connective Tissue Diseases Disease or Syndrome 47 2 0.440 None 0.800 5 1 2005 2016
CUI: C0702166
Disease: Acne
Acne
disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.400 None 1.000 1 2016 2016
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.340 strong 1.000 4 2 2002 2015
Hyperzincemia and Hypercalprotectinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 1.000 1 2015 2015
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
disease Skin and Connective Tissue Diseases Disease or Syndrome 94 37 0.300 None 1.000 1 2016 2016
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 82 2 0.300 None 1.000 1 2016 2016
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 109 45 0.300 limited 0
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.120 None 1.000 2 1 2013 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.110 None 1.000 1 2010 2010
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: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.100 None 0
CUI: C0027121
Disease: Myositis
Myositis
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood
phenotype Finding 27 0.100 None 0
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0
CUI: C0003862
Disease: Arthralgia
Arthralgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.100 None 0
CUI: C0034212
Disease: Pyoderma
Pyoderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 7 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility
phenotype Finding 84 3 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0241157
Disease: pustule
pustule
phenotype Skin and Connective Tissue Diseases Finding 18 0.100 None 0
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.100 None 0