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: 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
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype Anatomical Abnormality 104 131 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 1
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.310 None 1.000 1 2015 2015
CUI: C0259783
Disease: mixed gliomas
mixed gliomas
disease Neoplasms Neoplastic Process 76 0.300 None 1.000 1 2009 2009
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement
phenotype Laboratory Procedure 29 51 0.100 None 1.000 1 1 2018 2018
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0025295
Disease: Meningitis, Pneumococcal
Meningitis, Pneumococcal
disease Infections; Nervous System Diseases Disease or Syndrome 88 13 0.100 None 1.000 1 1 2019 2019
CUI: C0279988
Disease: Childhood Angiosarcoma
Childhood Angiosarcoma
disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2013 2013
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease Neoplasms Neoplastic Process 202 12 0.010 None 1.000 1 2013 2013
Epithelioid hemangioendothelioma, malignant
disease Neoplasms Neoplastic Process 29 0.010 None 1.000 1 2013 2013
CUI: C0278592
Disease: Adult Angiosarcoma
Adult Angiosarcoma
disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2013 2013
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma
disease Neoplasms Neoplastic Process 387 9 0.010 None 1.000 1 2014 2014
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm
phenotype Neoplastic Process 169 3 0.010 None 1.000 1 2018 2018
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
Adult Anaplastic Astrocytoma
disease Neoplasms Neoplastic Process 90 8 0.010 None 1.000 1 2013 2013
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2017 2017
CUI: C0280217
Disease: stage, non-small cell lung cancer
stage, non-small cell lung cancer
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 107 6 0.010 None 1.000 1 2019 2019
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2014 2014
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm
group Neoplastic Process 163 3 0.010 None 1.000 1 2018 2018
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.010 None 1.000 1 2017 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2010 2010
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2009 2009
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 533 8 0.010 None 1.000 1 2017 2017
CUI: C0549493
Disease: Alveolitis
Alveolitis
disease Skin and Connective Tissue Diseases; Respiratory Tract Diseases Disease or Syndrome 63 0.010 None 1.000 1 2019 2019