F12, coagulation factor XII, 2161

N. diseases: 87; N. variants: 22
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: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 0 1
CUI: C0542571
Disease: Facial edema
Facial edema 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 9 1 0.100 None 0
CUI: C0236024
Disease: Edema of pharynx
Edema of pharynx 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Pathologic Function 2 0.100 None 0
CUI: C0151563
Disease: Prolonged whole-blood clotting time
Prolonged whole-blood clotting time 		phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain 		phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 0.100 None 0
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0
CUI: C4017222
Disease: FACTOR XII (LOCARNO) PHENOTYPE
FACTOR XII (LOCARNO) PHENOTYPE 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4022978
Disease: Episodic upper airway obstruction
Episodic upper airway obstruction 		phenotype Finding 1 0.100 None 0
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		phenotype Finding 18 1 0.100 None 0
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 8 0.100 None 0 1
CUI: C1142262
Disease: Intestinal edema
Intestinal edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 2 0.100 None 0
CUI: C0002994
Disease: Angioedema
Angioedema 		phenotype Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 18 8 0.100 None 0 1
CUI: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 150 18 0.010 None < 0.001 1 2010 2010
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		group Cardiovascular Diseases Disease or Syndrome 319 128 0.010 None < 0.001 1 2010 2010
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.020 None 0.500 2 1991 2018
CUI: C4552766
Disease: Miscarriage
Miscarriage 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.020 None 0.500 2 2002 2005
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 54 7 0.700 strong 0.952 21 2 1984 2019
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 0.970 definitive 1.000 28 12 1979 2019
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 4 3 0.740 moderate 1.000 14 3 1987 2019
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.040 None 1.000 4 2004 2008
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.040 None 1.000 4 1997 2009
CUI: C4552517
Disease: Hereditary angioedema with normal C1 inhibitor
Hereditary angioedema with normal C1 inhibitor 		disease Disease or Syndrome 4 0.030 None 1.000 3 2006 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.030 None 1.000 3 2017 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.020 None 1.000 2 1999 2004
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		phenotype Laboratory Procedure 17 44 0.100 None 1.000 2 3 2013 2018