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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.070 None 1.000 7 2008 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2007 2012
CUI: C0085923
Disease: soft neurological signs
soft neurological signs 		phenotype Sign or Symptom 15 1 0.010 None 1.000 1 2007 2007
CUI: C0240805
Disease: Prodrome
Prodrome 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2004 2004
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.010 None 1.000 1 2007 2007
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.010 None 1.000 1 2002 2002
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2017 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2018 2018
CUI: C1333296
Disease: Activated B-cell type diffuse large B-cell lymphoma
Activated B-cell type diffuse large B-cell lymphoma 		disease Neoplastic Process 39 2 0.010 None 1.000 1 2017 2017
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2016 2016
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2009 2009
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer 		disease Neoplastic Process 71 3 0.010 None 1.000 1 2018 2018
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		disease Neoplastic Process 103 0.010 None 1.000 1 2017 2017
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma 		disease Neoplastic Process 153 11 0.010 None 1.000 1 2018 2018
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma 		disease Neoplastic Process 103 7 0.010 None 1.000 1 2018 2018
CUI: C4225176
Disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 		disease Disease or Syndrome 1 1 0.600 strong 1.000 1 1 2018 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2018 2018
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1832338
Disease: Axonal loss
Axonal loss 		phenotype Finding 16 0.100 None 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype Finding 50 4 0.100 None 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		phenotype Finding 15 1 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2007 2007
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 230 93 0.020 None 1.000 2 2009 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.020 None 1.000 2 2013 2014