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.
PRKAR1B-related neurodegenerative dementia with intermediate filaments
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 1 0.300 None 1.000 2 2014 2014
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.120 None 1.000 2 2014 2014
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 2 2 2016 2019
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 188 51 0.100 None 1.000 1 1 2018 2018
CUI: C0523697
Disease: Histidine measurement
Histidine measurement
phenotype Laboratory Procedure 2 2 0.100 None 1.000 1 1 2019 2019
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
group Laboratory Procedure 53 92 0.100 None 1.000 1 1 2019 2019
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C0523957
Disease: Tryptophan measurement
Tryptophan measurement
phenotype Laboratory Procedure 3 3 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: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology
disease Anatomical Abnormality 8 3 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0
phenotype Finding 109 2 0.100 None 0
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.100 None 0
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.100 None 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0
phenotype Finding 108 0.100 None 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy
phenotype Nervous System Diseases; Mental Disorders Finding 34 2 0.100 None 0
CUI: C1843921
Disease: Postural instability
Postural instability
phenotype Nervous System Diseases Finding 60 5 0.100 None 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration
phenotype Mental Disorders Finding 14 1 0.100 None 0
Impaired visuospatial constructive cognition
phenotype Finding 15 0.100 None 0
CUI: C4021584
Disease: Frontotemporal cerebral atrophy
Frontotemporal cerebral atrophy
disease Disease or Syndrome 14 1 0.100 None 0
CUI: C4022575
Disease: Inertia
Inertia
phenotype Finding 4 0.100 None 0
CUI: C3805715
Disease: Short stepped shuffling gait
Short stepped shuffling gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0.100 None 0
CUI: C0000921
Disease: Accidental Falls
Accidental Falls
phenotype Injury or Poisoning 22 0.100 None 0
CUI: C0085632
Disease: Apathy
Apathy
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.100 None 0
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness
phenotype Nervous System Diseases Sign or Symptom 92 6 0.100 None 0