F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
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.
THROMBOPHILIA DUE TO THROMBIN DEFECT
phenotype Finding 4 2 0.400 strong 1.000 14 2 1986 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.090 None 1.000 9 2014 2019
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 5 4 2010 2019
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia
disease Disease or Syndrome 60 14 0.040 None 1.000 4 1977 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.040 None 1.000 4 1980 2016
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 3 3 2010 2013
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.030 None 1.000 3 2017 2019
Heterozygous Factor V Leiden mutation
disease Disease or Syndrome 6 0.020 None 1.000 2 2000 2003
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.020 None 1.000 2 2 2010 2018
CUI: C1096116
Disease: Acquired haemophilia
Acquired haemophilia
disease Disease or Syndrome 7 2 0.020 None 1.000 2 2017 2018
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis
disease Acquired Abnormality 115 15 0.020 None 1.000 2 1 2004 2008
CUI: C2945695
Disease: Limb ischemia
Limb ischemia
disease Disease or Syndrome 171 3 0.020 None 1.000 2 2 2009 2019
CUI: C3160844
Disease: PAI-1 polymorphism
PAI-1 polymorphism
disease Disease or Syndrome 10 1 0.020 None 0.500 2 2014 2015
Nonnuclear polymorphic congenital cataract
disease Congenital Abnormality 71 0.020 None 1.000 2 2017 2019
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2017 2017
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.010 None 1.000 1 1 2006 2006
CUI: C0243066
Disease: Atresia
Atresia
disease Congenital Abnormality 44 1 0.010 None 1.000 1 2011 2011
CUI: C0276622
Disease: Acute viral hepatitis
Acute viral hepatitis
disease Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.010 None 1.000 1 2018 2018
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2017 2017
CUI: C0584983
Disease: Homozygous Factor V Leiden mutation
Homozygous Factor V Leiden mutation
disease Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2019 2019
CUI: C0683381
Disease: inflammatory joint disease
inflammatory joint disease
disease Disease or Syndrome 33 0.010 None 1.000 1 2011 2011
CUI: C0852879
Disease: Pulmonary Alveolar Hemorrhage
Pulmonary Alveolar Hemorrhage
disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017