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: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2014 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2014 2014
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2014 2014
Hereditary Neurodegenerative Disorder
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2014 2014
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.010 None 1.000 1 2018 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.010 None 1.000 1 2014 2014
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.010 None 1.000 1 2002 2002
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 156 9 0.010 None 1.000 1 2002 2002
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2014 2014
Primary pigmented nodular adrenocortical disease
disease Disease or Syndrome 22 1 0.010 None 1.000 1 2002 2002
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2014 2014
Primary Pigmented Nodular Adrenal Dysplasia
disease Congenital Abnormality 31 1 0.010 None 1.000 1 2002 2002
CUI: C0406810
Disease: Carney Complex
Carney Complex
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 82 27 0.020 None 1.000 2 2005 2006
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: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0523697
Disease: Histidine measurement
Histidine measurement
phenotype Laboratory Procedure 2 2 0.100 None 1.000 1 1 2019 2019
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 188 51 0.100 None 1.000 1 1 2018 2018
CUI: C0523957
Disease: Tryptophan measurement
Tryptophan measurement
phenotype Laboratory Procedure 3 3 0.100 None 1.000 1 1 2019 2019
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
group Laboratory Procedure 53 92 0.100 None 1.000 1 1 2019 2019
CUI: C1843921
Disease: Postural instability
Postural instability
phenotype Nervous System Diseases Finding 60 5 0.100 None 0
Impaired visuospatial constructive cognition
phenotype Finding 15 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: C1866284
Disease: Motor deterioration
Motor deterioration
phenotype Mental Disorders Finding 14 1 0.100 None 0