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.
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 11 75 0.100 None 1.000 30 73 1991 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 4 4 2018 2019
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
phenotype Finding 146 344 0.100 None 1.000 2 2 2018 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 1.000 1 9 2018 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 2 2018 2018
CUI: C0236379
Disease: ESTRONE MEASUREMENT
ESTRONE MEASUREMENT
phenotype Laboratory Procedure 5 7 0.100 None 1.000 1 1 2018 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.100 None 1.000 1 1 2019 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0337432
Disease: Androstenedione measurement
Androstenedione measurement
phenotype Laboratory Procedure 5 9 0.100 None 1.000 1 2 2019 2019
Glucocorticoid-remediable aldosteronism
disease Endocrine System Diseases Disease or Syndrome 30 2 0.100 None 0 2
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.100 None 0 8
Corticosterone Methyl Oxidase Type II Deficiency
disease Disease or Syndrome 4 6 0.100 None 0 6
Corticosterone Methyl Oxidase Type I Deficiency
disease Endocrine System Diseases Disease or Syndrome 4 2 0.100 None 0 2
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.040 None 1.000 4 1996 1999
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.040 None 1.000 4 1996 1999
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.020 None 1.000 2 1996 1997
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1254 270 0.020 None 1.000 2 1996 1997
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.020 None 1.000 2 2000 2000
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.020 None 1.000 2 1996 1997
Gastric Diffuse Large B-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 8 1 0.010 None 1.000 1 2018 2018
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 0.010 None 1.000 1 2018 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None < 0.001 1 1999 1999
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.010 None 1.000 1 1979 1979
CUI: C0343378
Disease: Helicobacter-associated gastritis
Helicobacter-associated gastritis
disease Digestive System Diseases; Infections Disease or Syndrome 30 0.010 None 1.000 1 2018 2018
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2018 2018