F11, coagulation factor XI, 2160

N. diseases: 100; N. variants: 139
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: C0220992
Disease: Histidinemia
Histidinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 4 0.010 None 1.000 1 2003 2003
CUI: C1096245
Disease: Gait deviation
Gait deviation 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2018 2018
CUI: C4524088
Disease: Patella baja
Patella baja 		phenotype Anatomical Abnormality 2 0.010 None < 0.001 1 2017 2017
CUI: C0340757
Disease: Inferior vena cava stenosis
Inferior vena cava stenosis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0272340
Disease: High molecular weight kininogen deficiency
High molecular weight kininogen deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 2010 2010
CUI: C4527149
Disease: Intermediate Atypical Prostate Carcinoma
Intermediate Atypical Prostate Carcinoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2018 2018
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		disease Disease or Syndrome 6 9 0.090 None 1.000 9 9 1981 2018
CUI: C1848534
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 4 0.010 None 1.000 1 2016 2016
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 7 119 1.000 strong 1.000 85 119 1981 2019
CUI: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity 		phenotype Finding 7 1 0.100 None 0
CUI: C1969572
Disease: Prolonged bleeding after dental extraction
Prolonged bleeding after dental extraction 		phenotype Pathologic Function 8 0.100 None 0
CUI: C0002623
Disease: Post-traumatic amnesia
Post-traumatic amnesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 9 0.010 None 1.000 1 2019 2019
CUI: C0206586
Disease: Endolymphatic Hydrops
Endolymphatic Hydrops 		disease Otorhinolaryngologic Diseases Disease or Syndrome 11 1 0.030 None 1.000 3 2017 2019
CUI: C0031256
Disease: Petechiae
Petechiae 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 11 5 0.010 None 1.000 1 2005 2005
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 11 6 0.010 None 1.000 1 2017 2017
CUI: C0272315
Disease: Coagulation factor deficiency syndrome
Coagulation factor deficiency syndrome 		group Hemic and Lymphatic Diseases Disease or Syndrome 13 2 0.100 None 1.000 1 1 2019 2019
CUI: C0018924
Disease: Hemarthrosis
Hemarthrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 13 0.100 None 0
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 14 13 0.010 None 1.000 1 2017 2017
CUI: C0340565
Disease: Lower limb ischemia
Lower limb ischemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 0.010 None 1.000 1 2018 2018
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		phenotype Laboratory Procedure 17 44 0.100 None 1.000 2 4 2012 2018
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		phenotype Finding 18 1 0.100 None 0
CUI: C0042880
Disease: Vitamin K Deficiency
Vitamin K Deficiency 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.020 None 1.000 2 2009 2016
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2017 2017
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 24 0.010 None < 0.001 1 2018 2018
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 17 0.010 None < 0.001 1 2017 2017