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.
Prostate specific antigen measurement
phenotype Laboratory Procedure 25 95 0.100 None 1.000 1 2 2017 2017
CUI: C0162701
Disease: Polysomnography
Polysomnography
phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 4 2012 2012
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 119 3 0.010 None 1.000 1 2017 2017
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 120 122 0.100 None 1.000 3 3 2013 2017
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 1 1 2012 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 143 4 0.010 None 1.000 1 1985 1985
CUI: C0260037
Disease: Multiple tumors
Multiple tumors
phenotype Neoplasms Neoplastic Process 143 12 0.010 None 1.000 1 2018 2018
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
phenotype Finding 165 368 0.100 None 1.000 18 5 2007 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
disease Finding 166 374 0.100 None 1.000 18 5 2007 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
disease Finding 166 370 0.100 None 1.000 18 5 2007 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
disease Finding 166 373 0.100 None 1.000 18 5 2007 2019
Malignant neoplasm of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 173 375 0.100 None 1.000 18 5 2007 2019
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 180 5 0.010 None 1.000 1 2017 2017
Monoclonal Gammopathy of Undetermined Significance
disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 227 20 0.010 None 1.000 1 1991 1991
Prostatic Intraepithelial Neoplasias
disease Neoplasms Neoplastic Process 230 0.010 None 1.000 1 2005 2005
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.100 None 1.000 1 1 2018 2018
CUI: C0014038
Disease: Encephalitis
Encephalitis
disease Nervous System Diseases Disease or Syndrome 324 18 0.010 None 1.000 1 2018 2018
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer
disease Neoplastic Process 398 7 0.010 None 1.000 1 2019 2019
Malignant neoplasm of gastrointestinal tract
disease Digestive System Diseases; Neoplasms Neoplastic Process 423 55 0.010 None 1.000 1 1 2018 2018
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.100 None 1.000 1 4 2019 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 1.000 18 5 2007 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 3 3 2018 2019
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 1.000 1 1 2019 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 2019 2019