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.
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
disease Finding 1 1 0.400 None 0 1
Cerebral Infarction, Right Hemisphere
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.300 None 0
Cerebral Infarction, Left Hemisphere
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.300 None 0
Anterior Choroidal Artery Infarction
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.300 None 0
CUI: C0751014
Disease: Subcortical Infarction
Subcortical Infarction
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 13 0.300 None 0
Posterior Choroidal Artery Infarction
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.300 None 0
CUI: C0017565
Disease: Gingival Hemorrhage
Gingival Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Pathologic Function 50 2 0.100 None 0
CUI: C0025323
Disease: Menorrhagia
Menorrhagia
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 34 6 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C3550150
Disease: Recurrent thrombophlebitis
Recurrent thrombophlebitis
phenotype Cardiovascular Diseases Finding 5 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C3279439
Disease: Recurrent spontaneous abortion
Recurrent spontaneous abortion
phenotype Female Urogenital Diseases and Pregnancy Complications Finding 7 0.100 None 0
CUI: C1856857
Disease: STROKE, ISCHEMIC, SUSCEPTIBILITY TO
STROKE, ISCHEMIC, SUSCEPTIBILITY TO
phenotype Finding 2 2 0.100 None 0 1
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 56 0.100 None 0
CUI: C0007722
Disease: Cephalhematoma due to birth trauma
Cephalhematoma due to birth trauma
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Wounds and Injuries Disease or Syndrome 7 0.100 None 0
CUI: C0014591
Disease: Epistaxis
Epistaxis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function 82 4 0.100 None 0
Prolonged bleeding after dental extraction
phenotype Pathologic Function 8 0.100 None 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.100 None 0
CUI: C0018924
Disease: Hemarthrosis
Hemarthrosis
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 13 0.100 None 0
CUI: C2237512
Disease: cephalohematoma
cephalohematoma
phenotype Finding 7 0.100 None 0
CUI: C4023145
Disease: Abnormal umbilical stump bleeding
Abnormal umbilical stump bleeding
disease Anatomical Abnormality 5 0.100 None 0
CUI: C4280698
Disease: Reduced prothrombin antigen
Reduced prothrombin antigen
phenotype Finding 2 0.100 None 0
Partial thromboplastin time increased (finding)
phenotype Finding 18 1 0.100 None 0
Prolonged bleeding following circumcision
phenotype Pathologic Function 5 0.100 None 0
Excessive bleeding from superficial cuts
phenotype Pathologic Function 2 0.100 None 0