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.
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C0025289
Disease: Meningitis
Meningitis
disease Nervous System Diseases Disease or Syndrome 191 13 0.100 None 0
CUI: C3887590
Disease: Stricture of ureter
Stricture of ureter
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 12 0.100 None 0
Lichenification and lichen simplex chronicus
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0023653
Disease: Lichenification
Lichenification
phenotype Skin and Connective Tissue Diseases Pathologic Function 12 0.100 None 0
Antiphospholipid antibody positivity
phenotype Finding 18 0.100 None 0
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye
disease Disease or Syndrome 88 1 0.100 None 0
Abnormality of bone marrow cell morphology
disease Anatomical Abnormality 15 0.100 None 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology
disease Anatomical Abnormality 10 3 0.100 None 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 0.100 None 0
CUI: C0027697
Disease: Nephritis
Nephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 296 40 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.100 None 0
CUI: C0033581
Disease: prostatitis
prostatitis
disease Male Urogenital Diseases Disease or Syndrome 86 1 0.100 None 0
CUI: C3805919
Disease: Recurrent intrapulmonary hemorrhage
Recurrent intrapulmonary hemorrhage
phenotype Finding 7 0.100 None 0
CUI: C0032231
Disease: Pleurisy
Pleurisy
disease Infections; Respiratory Tract Diseases Disease or Syndrome 82 7 0.100 None 0
CUI: C4022660
Disease: Autoimmune antibody positivity
Autoimmune antibody positivity
phenotype Laboratory or Test Result 5 0.100 None 0
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level
phenotype Finding 28 2 0.100 None 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.100 None 0
CUI: C0017086
Disease: Gangrene
Gangrene
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 69 4 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0 1