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: C0272334
Disease: Hereditary factor XII deficiency disease
Hereditary factor XII deficiency disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2017 2017
CUI: C1960459
Disease: Hereditary angioedema with normal C1 esterase inhibitor activity
Hereditary angioedema with normal C1 esterase inhibitor activity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2010 2010
CUI: C4552292
Disease: Hereditary angioedema with normal C1 esterase inhibitor
Hereditary angioedema with normal C1 esterase inhibitor 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C4022978
Disease: Episodic upper airway obstruction
Episodic upper airway obstruction 		phenotype Finding 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: C1142262
Disease: Intestinal edema
Intestinal edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 2 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: 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: 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: C0151563
Disease: Prolonged whole-blood clotting time
Prolonged whole-blood clotting time 		phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
CUI: C2697764
Disease: Interleukin 16 Measurement
Interleukin 16 Measurement 		phenotype Laboratory Procedure 9 12 0.100 None 1.000 1 1 2017 2017
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: C0038034
Disease: Sporotrichosis
Sporotrichosis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 10 0.010 None 1.000 1 2007 2007
CUI: C0883409
Disease: Cardiac troponin I measurement
Cardiac troponin I measurement 		phenotype Laboratory Procedure 11 14 0.100 None 1.000 1 1 2019 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: 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: 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
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: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		phenotype Finding 18 1 0.100 None 0
CUI: C0040038
Disease: Thromboembolism
Thromboembolism 		phenotype Cardiovascular Diseases Pathologic Function 25 3 0.300 None 1.000 1 2005 2005
CUI: C0011389
Disease: Dental Plaque
Dental Plaque 		phenotype Stomatognathic Diseases Disease or Syndrome 27 0.010 None 1.000 1 1995 1995
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain 		phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 0.100 None 0
CUI: C4303092
Disease: Cystic echinococcosis
Cystic echinococcosis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Infections Disease or Syndrome 43 2 0.010 None 1.000 1 2017 2017
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction 		phenotype Endocrine System Diseases Disease or Syndrome 50 0.010 None 1.000 1 2014 2014
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