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: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 3 0.700 strong 1.000 2 3 2006 2007
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
disease Neoplasms Neoplastic Process 165 36 0.380 strong 1.000 9 2007 2019
CUI: C0032461
Disease: Polycythemia
Polycythemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 82 22 0.360 strong 1.000 7 1 2007 2016
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.350 strong 0.833 6 2007 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 344 186 0.330 strong 0.750 4 2007 2015
Hereditary Paraganglioma-Pheochromocytoma Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23 98 0.300 moderate 1.000 6 2006 2015
CUI: C0149504
Disease: Encephalopathy, Toxic
Encephalopathy, Toxic
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2018 2018
CUI: C0235032
Disease: Neurotoxicity Syndromes
Neurotoxicity Syndromes
group Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 34 0.300 None 1.000 1 2018 2018
CUI: C0154659
Disease: Toxic Encephalitis
Toxic Encephalitis
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2018 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.220 None 1.000 3 2012 2017
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.210 None 1.000 2 2006 2013
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.200 None 1.000 1 2009 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 17 2006 2020
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 2 2016 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 3 2016 2016
CUI: C0549448
Disease: Hemoglobin increased
Hemoglobin increased
phenotype Neoplasms; Hemic and Lymphatic Diseases Finding 7 0.100 None 0
CUI: C1853288
Disease: Increased red blood cell mass
Increased red blood cell mass
phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased
phenotype Finding 7 1 0.100 None 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.090 None 1.000 9 2010 2019
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1
disease Hemic and Lymphatic Diseases Disease or Syndrome 29 14 0.080 None 0.875 8 1 2006 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.080 None 1.000 8 2012 2019
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 17 2 0.080 None 0.875 8 1 2006 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.050 None 1.000 5 2010 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.040 None 1.000 4 2010 2017
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema
disease Respiratory Tract Diseases Disease or Syndrome 56 45 0.040 None 1.000 4 1 2010 2015