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: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 5 4 2016 2019
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 2 2 2016 2017
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 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 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.060 None 0.667 6 2001 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 0.800 5 2001 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.040 None 1.000 4 2001 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.020 None 1.000 2 2001 2006
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.020 None 1.000 2 2017 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2011 2017
CUI: C0033375
Disease: Prolactinoma
Prolactinoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 187 6 0.010 None 1.000 1 2011 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2006 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2017 2017
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.010 None 1.000 1 2006 2006
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2001 2001
CUI: C0024814
Disease: Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 133 8 0.010 None 1.000 1 2011 2011
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2017 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2011 2011
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.010 None 1.000 1 2011 2011