VWD
MCID: VNW001
MIFTS: 74

Von Willebrand's Disease (VWD) malady

Immune diseases, Blood diseases, Cardiovascular diseases categories

Summaries for Von Willebrand's Disease

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 3CDC, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. Mild forms of von Willebrand disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Women with this condition typically have heavy or prolonged bleeding during menstruation (menorrhagia), and some may also experience reproductive tract bleeding during pregnancy and childbirth. In severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Symptoms of von Willebrand disease may change over time. Increased age, pregnancy, exercise, and stress may cause bleeding symptoms to become less frequent.

MalaCards: Von Willebrand's Disease, also known as von willebrand disease, is related to pseudo-von willebrand disease and angiodysplasia. An important gene associated with Von Willebrand's Disease is VWF (von Willebrand factor), and among its related pathways are GP1b-IX-V activation signalling and Platelet Adhesion to exposed collagen. The drugs factor viii and antihemophilic factor, human and the compounds warfarin and phosphatidylserine have been mentioned in the context of this disorder. Affiliated tissues include testes, endothelial and liver, and related mouse phenotypes are cardiovascular system and nervous system.

Disease Ontology:8 A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. it arises from a qualitative or quantitative deficiency of von willebrand factor (vwf), a multimeric protein that is required for platelet adhesion.

NIH Rare Diseases:42 Von willebrand disease is a bleeding disorder that slows the blood clotting process. people with this condition often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. in severe cases, heavy bleeding occurs after minor trauma or even in the absence of injury. milder forms of von willebrand disease do not involve spontaneous bleeding, and the condition may become apparent only when abnormal bleeding occurs following surgery or a serious injury. symptoms may change over time. increased age, pregnancy, exercise, and stress may make bleeding symptoms may become less frequent. this condition is caused by mutations in the vwf gene and can have different inheritance patterns. last updated: 9/15/2011

CDC:3 Von Willebrand disease (VWD) is an under-diagnosed blood disorder in which the blood does not clot properly. Although there is no cure for VWD, treatment can control symptoms and help people avoid problems.

Wikipedia:63 Von Willebrand disease (vWD) is the most common hereditary coagulation abnormality described in humans,... more...

Description from OMIM:46 613554,277480,193400

GeneReviews summary for von-willebrand

Aliases & Classifications for Von Willebrand's Disease

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 46OMIM, 25ICD10
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Classifications:



Aliases & Descriptions:

von willebrand's disease 8
von willebrand disease 19 42 20 22 21 44 60
vascular pseudohemophilia 8 21
von willebrand disorder 8 21
von willebrand's factor deficiency 21
von willebrand's-jurgens' disease 8
von willebrand factor, deficiency 42
von willebrand factor deficiency 19
von willebrand-jrgens disease 8
von willebrands disease 10
vascular hemophilia 8
angiohemophilia 21
vwd 42


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Disease Ontology8 DOID:12531
NCIt39 C68677
MeSH34 D014842
ICD9CM27 286.4
ICD1025 D68.0

Related Diseases for Von Willebrand's Disease

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17GeneCards, 18GeneDecks
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Diseases related to Von Willebrand's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 193)
idRelated DiseaseScoreTop Affiliating Genes
1pseudo-von willebrand disease31.0VWF, GP1BA
2angiodysplasia30.9VWF
3thrombocytopenia30.8ADAMTS13, SELP, F2, GP1BA, VWF, F3
4hemophilia b30.6F9, F8, F11, F7, F2, F3
5blood platelet disease30.5GP1BA, VWF, ITGA2B, F8
6factor viii deficiency30.5F3, F7, F5, F8, F9
7factor xi deficiency30.4F2, F3, F7, F11, F5, F8
8atherosclerosis30.4ITGA2B, MTHFR, F7, F3, VWF, ADAMTS1
9factor xii deficiency30.3F5, F3
10hemangioma30.1F8
11hepatitis a30.1F8, F2
12arthropathy30.1F9, F8
13hypothyroidism30.1F9, F8, VWF
14hepatitis30.1F9, F8, F2
15lupus erythematosus30.1F2, F3, F5
16hemarthrosis30.1F9, F8, F3, VWF
17factor v deficiency30.1F2, F3, F5, F8
18thrombocytosis30.1SELP, F2, GP1BA, VWF, F3, IL11
19systemic lupus erythematosus30.1F8, F3, VWF, F2, ADAMTS13
20bernard-soulier syndrome30.1F2, GP1BA, VWF, ITGA2B, F8, F9
21hepatocellular carcinoma30.1F9, F8, CD63, F7, F2
22factor x deficiency30.1F9, F5, F7, F3, F2
23hepatitis b30.1F9, F8, F2
24factor vii deficiency30.1F2, F3, F7, F5, F8, F9
25leukemia30.1F9, F8, ITGA2B, MTHFR, F11, IL11
26myocardial infarction30.1GP1BA, P2RY12, VWF, F3, IL11, F7
27hemorrhagic disease30.0F9, F2, VWF, F3, F11, F5
28vascular disease30.0SELP, PLAT, GP1BA, P2RY12, VWF, F3
29acute myocardial infarction29.9F3, F7, ITGA2B, ADAMTS13, SELP, PLAT
30von willebrand disease, types 2a, 2b, 2m, and 2n10.7
31type 1 von willebrand disease10.7
32collagen disease10.7
33von willibrand disease, type 310.6
34aortic disease10.4
35autosomal dominant disease10.4
36autosomal recessive disease10.4
37type 2a von willebrand disease10.4
38type 2b von willebrand disease10.4
39type 2m von willebrand disease10.4
40type 2n von willebrand disease10.4
41aortic valve stenosis10.4
42type 3 von willebrand disease10.4
43vein disease10.3
44acquired von willebrand syndrome10.3
45hereditary hemorrhagic telangiectasia10.1
46cryoglobulinemia10.1
47infiltrating lipoma10.1
48qualitative platelet defect10.1
49noonan syndrome10.1
50common variable immunodeficiency10.1

Graphical network of the top 20 diseases related to Von Willebrand's Disease:



Diseases related to von willebrand's disease

Clinical Features for Von Willebrand's Disease

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46OMIM
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Clinical features from OMIM:

613554,277480,193400

Drugs & Therapeutics for Von Willebrand's Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Von Willebrand's Disease

Drug clinical trials:

Search ClinicalTrials for Von Willebrand's Disease

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Search CenterWatch for Von Willebrand's Disease

Inferred drug relations via UMLS60/NDF-RT40:

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Genetic Tests for Von Willebrand's Disease

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20GeneTests, 22GTR
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Genetic tests related to Von Willebrand's Disease:

id Genetic test Affiliating Genes
1 Von Willebrand Disease20 VWF
2 Von Willebrand Disorder22

Anatomical Context for Von Willebrand's Disease

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32MalaCards
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MalaCards organs/tissues related to Von Willebrand's Disease:

32
Testes, Endothelial, Liver, Bone marrow, Bone, Colon, Thyroid, Prostate, Lung, Heart, Whole blood, Tongue

Animal Models for Von Willebrand's Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Von Willebrand's Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.7F9, ITGA2B, F11, F7, F3, F2
2MP:00036319.6F5, MTHFR, F11, F3, VWF, F2
3MP:00053979.3F9, F8, STX2, ITGA2B, F11, F3
4MP:00053879.1F9, F8, STX2, ITGA2B, F11, F3
5MP:00107689.1F11, MTHFR, F5, STXBP5, F8, F9
6MP:00053768.8ADAMTS13, F9, F8, ITGA2B, F5, MTHFR

Publications for Von Willebrand's Disease

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50PubMed
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Articles related to Von Willebrand's Disease:

(show top 50)    (show all 522)
idTitleAuthorsYear
1
Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. (23167253)
2013
2
Non-thrombotic-, non-inhibitor-associated adverse reactions to coagulation factor concentrates for treatment of patients with hemophilia and von Willebrand's disease: a systematic review of prospective studies. (22250981)
2012
3
Use of 1-desamino-8-D-arginine vasopressin in microsurgical reconstruction in a patient with von Willebrand's disease. (21298724)
2011
4
High-resolution imaging of multimers can detect von Willebrand's disease type 2A even if ristocetin cofactor is higher than von Willebrand antigen. (21070489)
2011
5
Frequency of acquired von Willebrand's disease in children with congenital heart disease. (17824302)
2007
6
Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency. (16870550)
2006
7
Small bowel angiodysplasia associated with von Willebrand's disease: report of a case. (16794806)
2006
8
The natural history of hepatitis C virus infection in Italian patients with von Willebrand's disease: a cohort study. (16585016)
2006
9
Subarachnoid hemorrhage associated with von Willebrand's disease--case report. (16377951)
2005
10
Efficacy of Haemate-P as prophylaxis of recurrent bleeding in a patient with type 2B von Willebrand's disease. (16269931)
2005
11
Canine von Willebrand's disease type 2 in German wirehair pointers in the Netherlands. (12503596)
2001
12
New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease. (11325649)
2001
13
Collection and transport of samples for laboratory testing in von Willebrand's disease (VWD): time for a reappraisal? (11776337)
2001
14
Recurrent severe bleeding from gastrointestinal angiodysplasia in a patient with von Willebrand's disease, controlled with recombinant factor VIIa. (11414636)
2001
15
Type 2B von Willebrand's disease in thirteen individuals from five unrelated Australian families: phenotype and genotype correlations. (10706763)
2000
16
Severe hyponatraemia secondary to desmopressin therapy in von Willebrand's disease. (10788975)
2000
17
Von Willebrand's disease and neuroaxial anaesthesia. (11121957)
2000
18
Plasma platelet-activating factor (PAF) levels and desmopressin response in children with hemophilia A and von Willebrand's disease. (10235463)
1999
19
Plasma von Willebrand factor-collagen binding activity in normal dogs and in dogs with von Willebrand's disease. (10424644)
1999
20
Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis. (9681234)
1998
21
Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease. (9569179)
1998
22
Glycogen storage disease and von Willebrand's disease implications for dental treatment: dental management of a pediatric patient. (10483452)
1998
23
Clinical management of patients with von Willebrand's disease with a VHP vWF concentrate: the French experience. (10028319)
1998
24
Giant platelet disorder in a patient with type 2B von Willebrand's disease. (9423819)
1998
25
Plasma von Willebrand factor antigen concentration as a predictor of von Willebrand's disease status in German Wirehaired Pointers. (8790543)
1996
26
Lung-angiodysplasia and von Willebrand's disease in a family with Rendu-Osler disease. A case report. (9066252)
1996
27
Severe, recessive von Willebrand's disease in German Wirehaired Pointers. (8790542)
1996
28
Bleeding after tonsillectomy in severe von Willebrand's disease. (7798003)
1995
29
Rapid genotype analysis in type 2B von Willebrand's disease using a universal heteroduplex generator. (7833255)
1995
30
Effect of cryoprecipitate and plasma on plasma von Willebrand factor multimeters and bleeding time in Doberman Pinschers with type-I von Willebrand's disease. (8141483)
1994
31
Laboratory diagnosis of von Willebrand's disease. (7874871)
1994
32
Case report: recurrent hematuria and hematospermia due to prostatic telangiectasia in classic von Willebrand's disease. (8328507)
1993
33
von Willebrand's disease. Pathogenesis and clinical aspects. (8240703)
1993
34
Combined hereditary factor XI (plasma thromboplastin antecedent) deficiency, von Willebrand's disease, and xeroderma pigmentosum in a Japanese family. (8266918)
1993
35
Diagnosis of von Willebrand's disease subtypes by the analysis of multimeric composition of plasma von Willebrand factor]. (8191164)
1993
36
On laboratory problems in diagnosing mild von Willebrand's disease. (1585909)
1992
37
Acquired von Willebrand's disease due to excessive fibrinolysis. (1390254)
1992
38
The inheritance of type I and type III von Willebrand's disease in Israel: linkage analysis, carrier detection and prenatal diagnosis using three intragenic restriction fragment length polymorphisms. (1351407)
1992
39
Discrepant increase in factor VIII: C and von Willebrand factor after DDAVP infusion in a patient with variant von Willebrand's disease. (1768767)
1991
40
Family studies in von Willebrand's disease by analysis of restriction fragment length polymorphisms and an intragenic variable number tandem repeat (VNTR) sequence. (1982729)
1990
41
Absence of a bleeding tendency in severe acquired von Willebrand's disease. The role of platelet von Willebrand factor in maintaining normal hemostasis. (2508465)
1989
42
Consistency of responses to repeated DDAVP infusions in patients with von Willebrand's disease and hemophilia A. (2804344)
1989
43
Type IB von Willebrand's disease and pregnancy: comparison of analytical methods of von Willebrand factor for classification of von Willebrand's disease subtypes. (3260697)
1988
44
Severe von Willebrand's disease: SDS agarose multimer analysis. (3499365)
1987
45
Epidemiological investigation of the prevalence of von Willebrand's disease. (3492222)
1987
46
Spontaneous intracranial hemorrhage secondary to von Willebrand's disease. (3490002)
1986
47
Further studies on aggregation of platelet-type von Willebrand's disease platelets by human von Willebrand factor. (3018956)
1986
48
Cryoaggregation in von Willebrand's disease and other patient groups and the mechanism involved. (3876616)
1985
49
The life long haemorrhagic disorders with prolonged bleeding time and associated factor VIII deficiency (von Willebrand's disease). (4540604)
1972
50
Platelet aggregation, adhesion and adenosine diphosphate release in thrombopathia (platelet factor 3 deficiency). A comparison with Glanzmann's thrombasthenia and von Willebrand's disease. (5299408)
1967

Genetic Variations for Von Willebrand's Disease

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Expression for genes affiliated with Von Willebrand's Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Von Willebrand's Disease

Search GEO for disease gene expression data for Von Willebrand's Disease.

Pathways for genes affiliated with Von Willebrand's Disease

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 49PharmGKB, 51QIAGEN, 52R&D Systems
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Pathways related to Von Willebrand's Disease according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3GP1BA, VWF
210.3GP1BA, VWF
3
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10.3VWF, ITGA2B
410.2GP1BA, PLAT, SELP
510.2F2, F7, F9
610.2ITGA2B, IL11, GP1BA
7
Hide members
10.1F2, GP1BA, VWF, ITGA2B
810.1ITGA2B, VWF, P2RY12, F2
9
Hide members
10.1F2, F3, F7, F9
10
Hide members
10.0F5, F7, F3, F2
1110.0MTHFR, F7, F2, PLAT
12
Hide members
9.9F8, ITGA2B, F5, CD63, VWF, SELP
13
Hide members
9.8F3, VWF, P2RY12, GP1BA, F2, PLAT
14
Hide members
9.7F9, F8, ITGA2B, F5, F11, CD63
15
Hide members
9.7F9, F8, ITGA2B, F5, F11, F7
16
Hide members
9.6F2, VWF, F3, F7, F11, F5
17
Hide members
9.5PLAT, F9, F2, GP1BA, VWF, F3

Compounds for genes affiliated with Von Willebrand's Disease

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Von Willebrand's Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 170)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.6F9, VWF, SELP
2phosphatidylserine44 28 1112.5F3, F8, GP1BA, F2
3aspartate4410.4F7, F8, F2, IL11
4rfviii4410.4F8, VWF, F5, F9
5coumarins4410.4F9, F3
6hydroxyethyl starch4410.4F3, F8, SELP, VWF, F2
7adp44 28 2412.4CD63, P2RY12, PLAT, ITGA2B
8kaolin4410.4F9, F3, F5, F2, F8
9spectrozyme4410.4F3, F2, F5, PLAT
10Coagulation Factor IX1110.3F8, F11, F7, F2
11bivalirudin44 1111.3F5, F3, F2, PLAT, SELP
12batroxobin4410.3F2, SELP, PLAT, F5
13fondaparinux4410.3F9, F5, F3, PLAT, F2
14argatroban44 1111.3SELP, PLAT, F2, F5, F3
15ticlopidine44 1111.3F3, VWF, P2RY12, PLAT, SELP, ADAMTS13
16ppack4410.3SELP, P2RY12, VWF, F3, F2, PLAT
17tranexamic acid44 1111.3F2, VWF, F3, PLAT, F9, F8
18gamma-carboxyglutamic acid4410.3F9, F7, F5, F2, F3
19acenocoumarol44 49 1112.2F2, F3, F5, F9
20aprotinin44 1111.2F9, F5, F11, F3, VWF, PLAT
21tirofiban44 1111.2VWF, F3, ITGA2B, P2RY12, F2, PLAT
22levonorgestrel44 59 28 1113.2F5, PLAT, F2, F3, F7
23clopidogrel49 44 11 2413.2VWF, SELP, CD63, PLAT, F2, P2RY12
24citrate4410.1VWF, F9, F8, F5, F3, SELP
25abciximab44 1111.1SELP, P2RY12, VWF, ITGA2B, PLAT, F3
26dermatan sulfate4410.1F3, VWF, F2, PLAT, SELP, F11
27thromboxane a244 2411.1F8, VWF, P2RY12, PLAT, SELP, CD63
28serine4410.1F9, ADAMTS1, F8, ITGA2B, F11, F7
29prostacyclin4410.1VWF, F8, PLAT, GP1BA, SELP, F5
30endotoxin4410.1F9, F8, F5, F11, F3, ADAMTS13
31pge14410.1F5, VWF, P2RY12, F2, PLAT, IL11
32cyclophosphamide44 49 1112.0F9, F8, F5, F3, VWF, MTHFR
33protamine4410.0F5, F3, PLAT, SELP, F2
34hirudin4410.0SELP, PLAT, F2, GP1BA, VWF, F3
35protamine sulfate449.9PLAT, F5, F2, F3
36kininogen449.9F2, PLAT, SELP, F9, F5, F11
37homocysteine44 2410.9F8, F5, MTHFR, F11, F3, VWF
38cyclosporin a44 28 5911.9MTHFR, IL11, VWF, ADAMTS13, F2, PLAT
39heparin44 28 11 2412.9SELP, F9, F8, MTHFR, F11, IL11
40ristocetin449.9ADAMTS13, SELP, PLAT, F2, GP1BA, VWF
41epinephrine44 11 2411.9F5, SELP, F8, CD63, IL11, F3
42simvastatin44 49 59 28 11 2414.9PLAT, F2, VWF, F3, F5, SELP
43desmopressin44 59 28 1112.9PLAT, F9, F8, SELP, ADAMTS13, GP1BA
44aspirin44 49 28 2412.8CD63, F5, F8, F3, VWF, P2RY12
45cholesterol44 28 11 2412.7CD63, VWF, F9, SELP, PLAT, F8
46creatinine449.7F9, P2RY12, F8, F5, ADAMTS13, SELP
47dextran sulfate449.7F5, F11, F3, SELP, F9
48cysteine449.5MTHFR, IL11, F3, VWF, PLAT, F5
49calcium44 49 11 2412.3F5, ITGA2B, CD63, F7, IL11, VWF
50fibrinogen449.2GP1BA, F2, PLAT, SELP, ADAMTS13, P2RY12

GO Terms for genes affiliated with Von Willebrand's Disease

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16Gene Ontology
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Cellular components related to Von Willebrand's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:03109310.3F8, F5, VWF
2platelet dense granule membraneGO:03108810.3SELP, CD63
3Golgi lumenGO:00579610.2F2, F7, F9
4cell surfaceGO:00998610.0STX2, CD63, F3, PLAT, ADAMTS13
5external side of plasma membraneGO:00989710.0ITGA2B, VWF, P2RY12, SELP
6platelet alpha granule membraneGO:03109210.0SELP, ITGA2B
7extracellular regionGO:0055769.7F9, F8, F5, F11, F7, IL11
8extracellular spaceGO:0056159.7ADAMTS13, F8, F5, F11, F7, IL11
9plasma membraneGO:0058869.4F11, F5, ITGA2B, F8, F9, CD63

Biological processes related to Von Willebrand's Disease according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:00759810.4F9, F7, F3
2positive regulation of platelet-derived growth factor receptor signaling pathwayGO:01064110.4F3, F7
3peptidyl-glutamic acid carboxylationGO:01718710.4F9, F7, F2
4plasminogen activationGO:03163910.4F11, PLAT
5fibrinolysisGO:04273010.4PLAT, F2, GP1BA
6regulation of blood coagulationGO:03019310.4F2, GP1BA
7hemostasisGO:00759910.3VWF, P2RY12
8positive regulation of blood coagulationGO:03019410.3F2, F7
9blood coagulation, intrinsic pathwayGO:00759710.2F9, F8, F11, VWF, GP1BA, F2
10platelet degranulationGO:00257610.1F8, ITGA2B, F5, CD63, VWF, SELP
11cell adhesionGO:00715510.1F8, ITGA2B, F5, VWF, GP1BA, SELP
12integrin-mediated signaling pathwayGO:00722910.1ADAMTS13, ADAMTS1, ITGA2B
13positive regulation of positive chemotaxisGO:05092710.0F3, F7
14proteolysisGO:00650810.0ADAMTS13, ADAMTS1, PLAT, F2, F7, F11
15platelet activationGO:0301689.7ADAMTS13, SELP, F2, GP1BA, P2RY12, VWF
16blood coagulationGO:0075969.4SELP, F9, F8, PLAT, F2, GP1BA

Molecular functions related to Von Willebrand's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:0019489.9F7, VWF, SELP
2serine-type endopeptidase activityGO:0042529.8PLAT, F2, F7, F11, F9
3protein bindingGO:0055159.1STX2, ITGA2B, F5, F11, CD63, F3

Products for genes affiliated with Von Willebrand's Disease

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  • Antibodies
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Sources for Von Willebrand's Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet