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: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 167 70 0.300 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 83 0.100 0
CUI: C0008031
Disease: Chest Pain
Chest Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 75 2 0.100 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype Finding 67 1 0.100 0
CUI: C0338591
Disease: Amnesia, Transient Global
Amnesia, Transient Global
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 19 2 0.100 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 246 3 0.100 0
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
Abnormal rapid eye movement sleep
phenotype Finding 8 0.100 0
CUI: C1850530
Disease: Flexion contractures of joints
Flexion contractures of joints
phenotype Anatomical Abnormality 134 0.100 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Finding 72 0.100 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
phenotype Sign or Symptom 131 3 0.100 0
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 172 2 0.100 0
CUI: C0235896
Disease: Pulmonary Infiltrate
Pulmonary Infiltrate
phenotype Finding 18 0.100 0
CUI: C0235153
Disease: Hallucinations, Sensory
Hallucinations, Sensory
phenotype Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 54 0.100 0
CUI: C0028081
Disease: Night sweats
Night sweats
phenotype Sign or Symptom 9 0.100 0
CUI: C0028961
Disease: Oliguria
Oliguria
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 0.100 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 329 33 0.100 0
CUI: C3714745
Disease: Malabsorption
Malabsorption
phenotype Finding 107 0.100 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 190 4 0.100 0
CUI: C0151632
Disease: ESR raised
ESR raised
phenotype Finding 24 0.100 0
CUI: C0262985
Disease: Psoriasiform eczema
Psoriasiform eczema
disease Disease or Syndrome 27 0.100 0
CUI: C0009918
Disease: Contracture of joint
Contracture of joint
phenotype Anatomical Abnormality 139 0.100 0
CUI: C0009917
Disease: Contracture
Contracture
group Musculoskeletal Diseases Anatomical Abnormality 165 7 0.100 0
CUI: C2220104
Disease: Skin blisters
Skin blisters
phenotype Finding 66 0.100 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
phenotype Anatomical Abnormality 66 0.100 0
CUI: C0332573
Disease: Macule
Macule
phenotype Sign or Symptom 22 1 0.100 0