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: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain 		phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 0.100 None 0
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: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		phenotype Finding 18 1 0.100 None 0
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: C1142262
Disease: Intestinal edema
Intestinal edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 2 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: C0151563
Disease: Prolonged whole-blood clotting time
Prolonged whole-blood clotting time 		phenotype Hemic and Lymphatic Diseases Finding 4 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: 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: 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: 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: 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.400 None 1.000 1 1 1984 1984
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: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.010 None 1.000 1 1990 1990
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: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.010 None 1.000 1 1992 1992
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 66 14 0.010 None 1.000 1 1994 1994
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1994 1994
CUI: C0011389
Disease: Dental Plaque
Dental Plaque 		phenotype Stomatognathic Diseases Disease or Syndrome 27 0.010 None 1.000 1 1995 1995
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: C0398623
Disease: Thrombophilia
Thrombophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.020 None 1.000 2 1999 2004
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 558 44 0.010 None 1.000 1 1999 1999