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: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.500 None 1.000 1 2011 2011
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.400 None 1.000 2 2017 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.400 None 1.000 2 2017 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.320 None 1.000 4 2011 2020
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.310 None 1.000 3 2017 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.310 None 1.000 3 2017 2019
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.300 None 1.000 2 2017 2018
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.300 None 1.000 2 2017 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.300 None 1.000 2 2017 2018
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.300 None 0 3
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 67 7 0.300 None 0 1
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma
disease Neoplasms Neoplastic Process 45 24 0.300 None 0
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.300 None 0
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma
disease Neoplasms Neoplastic Process 143 65 0.300 None 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.300 None 0 1
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 94 16 0.110 None 1.000 1 2018 2018
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 2 2019 2019
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype Finding 216 16 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0