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: C0741923
Disease: cardiac event
cardiac event
phenotype Disease or Syndrome 82 18 0.100 None 1.000 16 1 1996 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 14 1 1999 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 14 1 1999 2016
QT interval feature (observable entity)
phenotype Clinical Attribute 75 226 0.100 None 1.000 5 5 2010 2019
Adverse Event Associated with Cardiac Arrhythmia
phenotype Disease or Syndrome 42 5 0.050 None 1.000 5 2 1995 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2004 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.040 None 1.000 4 2013 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2 1998 2005
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.020 None 1.000 2 2010 2012
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 1 2018 2019
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.010 None 1.000 1 2016 2016
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2019 2019
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2011 2011
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 0.010 None 1.000 1 2012 2012
CUI: C1536999
Disease: cancer angiogenesis
cancer angiogenesis
phenotype Neoplastic Process 44 0.010 None 1.000 1 2019 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2012 2012
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
disease Disease or Syndrome 3 16 0.010 None 1.000 1 2018 2018
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change
phenotype Finding 18 27 0.100 None 0 1
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval
phenotype Pathologic Function 25 1 0.100 None 0
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave
phenotype Finding 20 0.100 None 0
CUI: C1963175
Disease: Sinus Bradycardia, CTCAE
Sinus Bradycardia, CTCAE
phenotype Finding 20 0.100 None 0
CUI: C1963217
Disease: Prolonged QTc Interval, CTCAE
Prolonged QTc Interval, CTCAE
phenotype Finding 25 0.100 None 0