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.
New Variant Creutzfeldt-Jakob Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 22 10 0.300 0
CUI: C0859976
Disease: Idiopathic achalasia of esophagus
Idiopathic achalasia of esophagus
disease Disease or Syndrome 12 2 0.300 0
Multiple Sclerosis, Acute Fulminating
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 43 10 0.300 0
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 19 10 0.300 0
CUI: C1456240
Disease: Narcolepsy without cataplexy
Narcolepsy without cataplexy
disease Disease or Syndrome 4 0.300 0
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 88 39 0.300 0
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
Abnormal rapid eye movement sleep
phenotype Finding 8 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: C0241054
Disease: Skin bullae
Skin bullae
phenotype Finding 67 6 0.100 0
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 453 75 0.100 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 160 0.100 0
CUI: C0262985
Disease: Psoriasiform eczema
Psoriasiform eczema
disease Disease or Syndrome 27 0.100 0
CUI: C4477058
Disease: Fragmented sleep
Fragmented sleep
phenotype Sign or Symptom 16 0.100 0
CUI: C0917801
Disease: Sleeplessness
Sleeplessness
phenotype Mental Disorders; Nervous System Diseases Sign or Symptom 44 38 0.100 0
CUI: C0018524
Disease: Hallucinations
Hallucinations
disease Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 71 5 0.100 0
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence
phenotype Sign or Symptom 34 1 0.100 0
CUI: C0332573
Disease: Macule
Macule
phenotype Sign or Symptom 22 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: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype Finding 67 1 0.100 0
CUI: C2220104
Disease: Skin blisters
Skin blisters
phenotype Finding 66 0.100 0
CUI: C0004368
Disease: Autoimmune state
Autoimmune state
phenotype Pathologic Function 35 0.100 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
phenotype Finding 48 1 0.100 0
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 112 2 0.100 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
phenotype Anatomical Abnormality 66 0.100 0
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
disease Digestive System Diseases Disease or Syndrome 22 1 0.610 1.000 1 2015 2015