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: C0158850
Disease: Fetal Malnutrition
Fetal Malnutrition
disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2009 2009
CUI: C1266089
Disease: Metaplastic carcinoma
Metaplastic carcinoma
disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2018 2018
CUI: C4703555
Disease: Decreased waist to hip ratio
Decreased waist to hip ratio
phenotype Finding 28 0.100 None 0
Thyroid stimulating hormone measurement
phenotype Laboratory Procedure 42 83 0.100 None 1.000 1 1 2018 2018
CUI: C0221765
Disease: Chronic schizophrenia
Chronic schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 48 7 0.310 None 1.000 1 2013 2013
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result
phenotype Laboratory or Test Result 65 113 0.100 None 1.000 2 2 2012 2012
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
phenotype Laboratory Procedure 74 119 0.100 None 1.000 1 1 2019 2019
CUI: C1514422
Disease: Glioblastoma, IDH-Wildtype
Glioblastoma, IDH-Wildtype
disease Neoplasms Neoplastic Process 75 4 0.010 None 1.000 1 2012 2012
Malignant neoplasm of stomach stage IV
disease Neoplastic Process 78 7 0.010 None 1.000 1 2015 2015
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2018 2018
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
phenotype Finding 89 111 0.100 None 1.000 1 1 2018 2018
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
phenotype Laboratory Procedure 96 212 0.100 None 1.000 3 3 2012 2012
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms
group Neoplasms Neoplastic Process 145 0.010 None 1.000 1 2011 2011
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.100 None 0
CUI: C0752304
Disease: Hypoxic-Ischemic Encephalopathy
Hypoxic-Ischemic Encephalopathy
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 182 12 0.010 None 1.000 1 2019 2019
Pancreatic intraepithelial neoplasia
disease Neoplasms Neoplastic Process 186 11 0.010 None 1.000 1 2019 2019
CUI: C0023827
Disease: liposarcoma
liposarcoma
disease Neoplasms Neoplastic Process 200 6 0.010 None 1.000 1 2007 2007
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 205 16 0.010 None 1.000 1 1 2015 2015
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 223 12 0.010 None 1.000 1 2016 2016
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 230 24 0.010 None 1.000 1 2017 2017
CUI: C0013537
Disease: Eclampsia
Eclampsia
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 241 38 0.010 None 1.000 1 2018 2018
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2019 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 498 75 0.010 None 1.000 1 2017 2017