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: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 3 3 2015 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 3 2 2017 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2013 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 2 2018 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 3 2019 2019
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		phenotype Organism Function 109 220 0.100 None 1.000 1 1 2019 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2018 2018
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2013 2013
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		phenotype Finding 41 0.100 None 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		phenotype Finding 52 9 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 1.000 1 1 2018 2018
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 276 69 0.100 None 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		disease Behavior and Behavior Mechanisms Individual Behavior 135 0.100 None 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.100 None 0