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: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 9 3 2015 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.080 None 1.000 8 1997 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.040 None 1.000 4 1998 2006
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 0.040 None 1.000 4 1998 2010
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I
disease Neoplastic Process 115 1 0.030 None 1.000 3 1998 2006
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.030 None 1.000 3 2005 2015
CUI: C0442871
Disease: Microinvasive carcinoma
Microinvasive carcinoma
disease Neoplastic Process 10 0.020 None 1.000 2 2000 2002
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.020 None 1.000 2 2010 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1998 2005
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.020 None 1.000 2 1994 2001
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
phenotype Organism Function 109 220 0.100 None 1.000 1 1 2014 2014
CUI: C0024967
Disease: Maximal Voluntary Ventilation
Maximal Voluntary Ventilation
phenotype Finding 1 3 0.100 None 1.000 1 1 2017 2017
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests
phenotype Diagnostic Procedure 67 108 0.100 None 1.000 1 1 2017 2017
CUI: C0205622
Disease: Microinvasive tumor
Microinvasive tumor
disease Neoplastic Process 13 0.010 None 1.000 1 2000 2000
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
disease Disease or Syndrome 49 13 0.010 None 1.000 1 2009 2009
CUI: C0424678
Disease: Lean body mass
Lean body mass
phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
phenotype Clinical Attribute 70 183 0.100 None 1.000 1 1 2017 2017
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2010 2010
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2010 2010
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2014 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2006 2006
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.010 None 1.000 1 2002 2002
CUI: C1739405
Disease: CML progression
CML progression
disease Neoplastic Process 47 3 0.010 None < 0.001 1 1999 1999
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018