BSS
MCID: BRN019
MIFTS: 65

Bernard-Soulier Syndrome (BSS) malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Bernard-Soulier Syndrome

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Wikipedia:65 Bernard?Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy, is a rare autosomal... more...

MalaCards based summary: Bernard-Soulier Syndrome, also known as von willebrand factor receptor deficiency, is related to glanzmann's thrombasthenia and purpura. An important gene associated with Bernard-Soulier Syndrome is GP9 (glycoprotein IX (platelet)), and among its related pathways are Ephrin B reverse signaling and Signal transduction by L1. The compounds bivalirudin and ppack have been mentioned in the context of this disorder. Affiliated tissues include whole blood, heart and breast, and related mouse phenotypes are digestive/alimentary and reproductive system.

Descriptions from OMIM:46 231200,153670

Aliases & Classifications for Bernard-Soulier Syndrome

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Bernard-Soulier Syndrome, Aliases & Descriptions:

Name: Bernard-Soulier Syndrome 8 42 10 44 62
Von Willebrand Factor Receptor Deficiency 42 62
Deficiency of Platelet Glycoprotein 1b 42 62
Bernard Soulier Syndrome 8 22
Giant Platelet Syndrome 8 42
Macrothrombocytopenia, Familial Bernard-Soulier Type 42
Hemorrhagic Dystrophic Thrombocytopenia 8
 
Hemorrhagiparous Thrombocytic Dystrophy 42
Platelet Glycoprotein 1b, Deficiency of 42
Bernard - Soulier Thrombopathy 8
Thrombopathy, Bernard-Soulier 8
Giant Platelet Disease 42
Bss 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


External Ids:

Disease Ontology8 DOID:2217
NCIt39 C84595
MeSH34 D001606

Related Diseases for Bernard-Soulier Syndrome

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Diseases in the Bernard-Soulier Syndrome family:

Bernard-Soulier Syndrome Type a Bernard-Soulier Syndrome Type B
Bernard-Soulier Syndrome, Type A1 Bernard-Soulier Syndrome, Type A2

Diseases related to Bernard-Soulier Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1glanzmann's thrombasthenia31.4ITGB3, ITGA2B
2purpura31.3THPO
3factor xii deficiency31.0F9, VWF
4vasculitis30.7FGA, VWF, F2
5factor xi deficiency30.7F2, F9, F8
6hepatitis30.6F2R, F2, F9, F8
7von willebrand's disease30.6F8, ITGA2B, GP1BA, F9, VWF, F2
8atherosclerosis30.2F2R, VWF, RECK, ITGB3, ITGA2B, FGA
9breast cancer29.9GP1BA, NEU1, RECK, ITGA2
10hepatitis c29.8F2R, F2, THPO, F9, NEU1, F8
11leukemia29.2F2R, THPO, F9, MYH9, RECK, ITGB3
12myocardial infarction28.9ITGA2, ITGA2B, ITGB3, RECK, GP1BA, F9
13thrombocytopenia28.1ITGB3, RECK, MYH9, GP1BA, GP1BB, GP9
14thrombasthenia10.9
15bernard-soulier syndrome type c10.7
16bernard-soulier syndrome type b10.7
17angiodysplasia10.6
18bernard-soulier syndrome, type a210.6
19bernard-soulier syndrome type a10.6
20afibrinogenemia10.5FGA
21warfarin sensitivity10.5F9
22intermittent claudication10.5VWF
23hematopoietic stem cell transplantation10.5
24bernard-soulier syndrome, type a110.5
25antithrombin iii deficiency10.5F2
26gray platelet syndrome10.4GP9, GP5
27cardiac tamponade10.4F8
28pseudo-von willebrand disease10.4VWF, GP1BA
29thrombophlebitis10.4F8
30dysfibrinogenemia10.3F2, FGA
31thrombocytopenia due to platelet alloimmunization10.3THPO, GP5, ITGA2B
32factor x deficiency10.3F9, F2
33acute myeloid leukemia10.3
34gaucher's disease10.3
35hermansky-pudlak syndrome10.3
36drug dependence10.3
37myeloid leukemia10.3
38urticaria10.3
39polymicrogyria10.3
40aquagenic urticaria10.3
41acute liver failure10.3F2, THPO
42hypersplenism10.3THPO, F2
43factor v deficiency10.3F2, F8
44prion disease10.3F8, RECK
45protein c deficiency10.3F2, F9
46portal hypertension10.3F2, THPO
47vitamin k deficiency hemorrhagic disease10.2F8, F2
48bilirubin metabolic disorder10.2F2, F9
49medich giant platelet syndrome10.2
50hemorrhagic thrombocythemia10.2THPO, VWF

Graphical network of the top 20 diseases related to Bernard-Soulier Syndrome:



Diseases related to bernard-soulier syndrome

Symptoms for Bernard-Soulier Syndrome

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Clinical features from OMIM:

231200,153670

Drugs & Therapeutics for Bernard-Soulier Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Bernard-Soulier Syndrome

Genetic Tests for Bernard-Soulier Syndrome

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Genetic tests related to Bernard-Soulier Syndrome:

id Genetic test Affiliating Genes
1 Bernard Soulier Syndrome22

Anatomical Context for Bernard-Soulier Syndrome

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MalaCards organs/tissues related to Bernard-Soulier Syndrome:

32
Whole blood, Heart, Breast, Myeloid

Animal Models for Bernard-Soulier Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Bernard-Soulier Syndrome:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4F2R, F2, VWF, ITGB3, ITGA2B, FGA
2MP:00053898.2FGA, F8, ITGA2B, ITGB3, F2, F2R
3MP:00053708.2F2R, F9, NEU1, RECK, ITGB3, FGA
4MP:00053807.8F2R, F2, F9, MYH9, RECK, ITGB3
5MP:00107717.7F2, NEU1, RECK, ITGB3, ITGA2, FGA
6MP:00053847.4F2R, F2, VWF, GP1BA, MYH9, NEU1
7MP:00053857.0F9, VWF, F2, F2R, MYH9, NEU1
8MP:00053876.7F2R, F2, VWF, THPO, F9, MYH9
9MP:00107686.6F2R, F2, VWF, F9, MYH9, NEU1
10MP:00053975.9FGA, F2R, F2, VWF, THPO, F9
11MP:00053765.3GP1BB, GP5, F9, VWF, F2, F2R

Publications for Bernard-Soulier Syndrome

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Articles related to Bernard-Soulier Syndrome:

(show top 50)    (show all 220)
idTitleAuthorsYear
1
Endodontic management of a patient with Bernard-Soulier syndrome. (24778520)
2014
2
Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein IbI^ mutation. (24051937)
2014
3
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. (24319190)
2013
4
Molecular pathology of Bernard-Soulier syndrome in Indian patients. (23402648)
2013
5
Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome. (22569901)
2012
6
Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy. (22044935)
2012
7
Novel mutation in the glycoprotein IbI^ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. (22343686)
2012
8
Quaternary organization of GPIb-IX complex and insights into Bernard- Soulier syndrome revealed by the structures of GPIbbeta and a GPIbbeta/GPIX chimera. (21908432)
2011
9
A A386G biallelic GPIbI+ gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis. (21993687)
2011
10
Intractable gastrointestinal bleeding from angiodysplasia in a patient with Bernard-Soulier syndrome. (21085964)
2011
11
Bernard-Soulier syndrome. (21357716)
2011
12
The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbI^. (19484238)
2010
13
Intrinsic impaired proplatelet formation and microtubule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrome. (19377075)
2009
14
Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. (19067792)
2009
15
A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype. (19404517)
2009
16
Perioperative management of a patient with Bernard-Soulier syndrome for third molar surgery. (17174124)
2007
17
Monitoring survival and function of transfused platelets in Bernard-Soulier syndrome by flow cytometry and a cone and plate(let) analyzer (Impact-R). (17207237)
2007
18
Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations. (16978236)
2006
19
Allogeneic stem cell transplantation as a new treatment option for patients with severe Bernard-Soulier Syndrome. (16543979)
2006
20
Gastric angiodysplasia in a child with Bernard-Soulier syndrome: efficacy of octreotide in long-term management. (16020106)
2005
21
Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology? (15823864)
2005
22
Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome. (15567653)
2004
23
A novel mutation in the transmembrane region of glyco-protein IX associated with Bernard-Soulier syndrome. (15351858)
2004
24
Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. (14510954)
2003
25
Bernard-Soulier syndrome in a Turkish family. (12296619)
2002
26
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. (11222377)
2001
27
Bernard-Soulier syndrome associated with 22q11.2 microdeletion. (11251994)
2001
28
Molecular pathogenesis of Bernard-Soulier syndrome. (10805283)
2000
29
Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families. (10227459)
1999
30
Severe bleeding tendency in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibalpha. (9628437)
1998
31
Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of Bernard-Soulier syndrome. (9021812)
1997
32
Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion. (8950770)
1996
33
Glycoprotein IIb-IIIa and glycoprotein IV expression on Bernard-Soulier syndrome platelets. (7540073)
1995
34
Biochemical and molecular basis of Bernard-Soulier syndrome: a review. (8904201)
1995
35
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. (8481514)
1993
36
Defective adhesion of blood platelets to vascular microfibrils in the Bernard-Soulier syndrome. (8400250)
1993
37
Atherosclerosis and unstable angina in Bernard-Soulier syndrome. (1575209)
1992
38
Glycoprotein Ib bioassays. Activity levels in Bernard-Soulier syndrome and in stored blood bank platelets. (2021317)
1991
39
Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome. (2308962)
1990
40
Variation in surface platelet glycoprotein Ib expression in Bernard-Soulier syndrome. (2387554)
1990
41
Differentiation between Bernard-Soulier syndrome and immune thrombocytopenia by immunostaining of peripheral blood. (2693494)
1989
42
Quantitation of cell membrane glycoproteins in pathological conditions using a lectin-bound enzyme-linked immunosorbent assay (ELISA). Application to human platelets in the Bernard-Soulier syndrome. (2454268)
1988
43
DDAVP shortens the bleeding time in Bernard-Soulier syndrome. (3388316)
1988
44
Recurrent life-threatening epistaxis in a child with Bernard-Soulier syndrome controlled by bilateral ligation of external carotids and ethmoidal arteries. (3113161)
1987
45
Bernard-Soulier syndrome presenting as recurrent exsanguinating haematemesis. (3699856)
1986
46
Studies in a case of Bernard-Soulier syndrome. (6404105)
1983
47
Characterization of the platelet membrane glycoprotein abnormalities in Bernard-Soulier syndrome and comparison with normal by surface-labeling techniques and high-resolution two-dimensional gel electrophoresis. (6284798)
1982
48
Hemostatic defects in the Bernard-Soulier syndrome. Presentation of one case and literature review. (6455979)
1981
49
Platelet membrane glycoproteins in thrombasthenia, Bernard-Soulier syndrome, and storage pool disease. (429863)
1979
50
Bernard-Soulier syndrome: a new platelet glycoprotein abnormality. Its relationship with platelet adhesion to subendothelium and with the factor VIII von Willebrand protein. (1083883)
1976

Variations for Bernard-Soulier Syndrome

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Expression for genes affiliated with Bernard-Soulier Syndrome

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Expression patterns in normal tissues for genes affiliated with Bernard-Soulier Syndrome

Search GEO for disease gene expression data for Bernard-Soulier Syndrome.

Pathways for genes affiliated with Bernard-Soulier Syndrome

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Pathways related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show all 32)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ITGA2B, ITGB3
29.7ITGA2B, ITGB3
39.3ITGA2, ITGA2B, ITGB3
49.3ITGB3, ITGA2B, ITGA2
5
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.3ITGA2, ITGA2B, ITGB3
69.3ITGB3, ITGA2B, ITGA2
7
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.2ITGA2, ITGB3, MYH9
8
Show member pathways
9.0FGA, ITGA2, ITGA2B, ITGB3
99.0ITGB3, ITGA2B, ITGA2, FGA
10
Show member pathways
9.0THPO, ITGB3, ITGA2B, ITGA2
11
Show member pathways
9.0F2, F9, F8, FGA
12
Show member pathways
8.9MYH9, ITGB3, ITGA2B, ITGA2
13
Show member pathways
8.9MYH9, ITGB3, ITGA2B, ITGA2
14
Show member pathways
8.9MYH9, ITGB3, ITGA2B, ITGA2
15
Show member pathways
8.7F2R, THPO, ITGB3, ITGA2B, ITGA2
168.7ITGA2, ITGA2B, ITGB3, VWF, F2R
178.7VWF, GP5, GP9, GP1BB, GP1BA
18
Show member pathways
8.6THPO, MYH9, ITGB3, ITGA2B, ITGA2
19
Show member pathways
8.5VWF, ITGB3, ITGA2B, F8, FGA
20
Show member pathways
8.5F2R, F2, VWF, ITGB3, ITGA2B, FGA
21
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.4F2R, F2, ITGB3, ITGA2B, ITGA2, FGA
22
Show member pathways
8.4F2R, F2, THPO, ITGB3, ITGA2B, ITGA2
23
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
8.4F2R, F2, VWF, F9, F8, FGA
24
Show member pathways
8.3F2R, F2, MYH9, ITGB3, ITGA2B, ITGA2
25
Show member pathways
8.3F2R, F2, MYH9, ITGB3, ITGA2B, ITGA2
268.3VWF, GP5, GP9, GP1BB, GP1BA, ITGA2
277.5ITGA2, THPO, GP5, GP9, GP1BB, GP1BA
28
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
7.5VWF, GP5, GP9, GP1BB, GP1BA, ITGB3
29
Show member pathways
7.2VWF, F9, GP5, GP9, GP1BB, GP1BA
30
Show member pathways
7.0F2, VWF, THPO, GP5, GP9, GP1BB
316.8FGA, F2R, F2, VWF, GP5, GP9
32
Show member pathways
5.4FGA, F2, VWF, THPO, F9, GP5

Compounds for genes affiliated with Bernard-Soulier Syndrome

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Compounds related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 136)
idCompoundScoreTop Affiliating Genes
1bivalirudin44 1110.8F2R, FGA, F2
2ppack449.7FGA, VWF, F2, F2R
311-dehydrothromboxane b2449.6F2, FGA, VWF
4guanidino449.6F2R, ITGA2, NEU1
5tributylphosphate449.6VWF, F8, F9
6rfviii449.5F8, F9, VWF
7kaolin449.5F9, F2, F8
8kininogen449.5GP1BA, F9, VWF, F2
9thromboxane44 2410.3ITGA2, VWF, FGA, F2R, THPO
10hydroxyethyl starch449.3F8, VWF, F2
11pge1449.3VWF, F2, F2R, FGA
12tranexamic acid44 1110.3VWF, F8, F9, F2
13desmopressin44 61 28 1112.1VWF, F8, F2, F9, GP1BA
14warfarin44 50 24 1112.0F8, FGA, VWF, F9, F2
15clopidogrel44 50 24 1112.0ITGA2, F2, F2R, ITGB3, VWF
16abciximab44 1110.0F2R, VWF, ITGA2B, ITGB3, GP1BA, F2
17prostacyclin448.9F2R, VWF, THPO, F8, FGA, GP1BA
18tirofiban44 119.8ITGA2, F2R, ITGB3, F2, VWF, ITGA2B
19thromboxane a244 249.7F8, VWF, THPO, ITGA2, FGA, F2R
20arachidonic acid44 28 24 1111.7F2R, VWF, THPO, RECK, ITGA2B, ITGA2
21aprotinin44 119.7RECK, GP1BA, F9, FGA, VWF, F2R
22sialic acid448.6F8, THPO, F9, NEU1, RECK
23acetaminophen44 2 50 24 1112.6F9, F8, VWF, F2
24phosphatidylcholine448.6F8, ITGA2, NEU1, F9, F2
25phospholipid448.5ITGA2, F8, VWF, F2, F2R, F9
26methionine448.4VWF, RECK, F9, GP1BA, F8, ITGA2
27creatinine448.4THPO, F2, VWF, F8, F9, FGA
28threonine448.3F9, GP9, GP1BA, MYH9, ITGB3, ITGA2
29hirudin448.3FGA, F8, GP1BA, F9, THPO, VWF
30latex448.2F2R, FGA, F8, ITGA2, GP1BA, F9
31epinephrine44 24 1110.2F2, VWF, F8, GP1BA, THPO, F2R
32polyacrylamide448.0ITGB3, F8, F9, NEU1, RECK, ITGA2
33lysine447.9ITGA2B, F9, RECK, THPO, ITGA2, F8
34alanine447.9ITGB3, F2, GP1BA, VWF, THPO, F9
35vegf447.8THPO, VWF, F2R, RECK, ITGB3, ITGA2
36aspartate447.7F2, VWF, F9, GP1BB, F8, ITGA2
37glucose447.6ITGA2, F2R, ITGB3, RECK, GP1BA, F8
38phosphatidylserine44 28 119.6F8, NEU1, GP1BA, RECK, F9, ITGB3
39lactate447.5F2, GP1BA, THPO, FGA, GP5, RECK
40leucine447.4GP5, RECK, ITGB3, F8, F9, GP1BA
41ristocetin447.3ITGB3, GP9, RECK, GP1BA, GP1BB, F8
42estrogen447.2THPO, F8, ITGB3, RECK, F2R, F2
43heparin44 28 24 119.9F9, THPO, VWF, F2, F2R, RECK
44aspirin44 50 28 249.9F2R, F2, VWF, THPO, GP5, GP1BA
45tyrosine446.8F9, FGA, F8, ITGA2, ITGB3, MYH9
46cysteine446.7F8, ITGA2, ITGA2B, RECK, GP9, F9
47calcium44 50 24 119.5F2R, FGA, F8, ITGA2, ITGA2B, RECK
48adp44 28 248.4VWF, F2, F2R, GP9, THPO, F9
49serine446.4F8, ITGB3, GP1BA, GP1BB, FGA, GP9
50fibrinogen445.6THPO, RECK, GP1BA, GP9, GP5, F9

GO Terms for genes affiliated with Bernard-Soulier Syndrome

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Cellular components related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granuleGO:0310919.9VWF, FGA
2platelet alpha granule membraneGO:0310929.8ITGA2B, ITGB3
3platelet alpha granule lumenGO:0310939.4FGA, F8, VWF
4external side of plasma membraneGO:0098979.4VWF, ITGA2B, ITGA2, FGA
5blood microparticleGO:0725629.3FGA, ITGA2B, F2
6focal adhesionGO:0059259.3ITGA2, ITGA2B, ITGB3
7integrin complexGO:0083059.1MYH9, ITGB3, ITGA2B, ITGA2
8extracellular regionGO:0055768.3F2R, F2, VWF, F9, F8, FGA
9integral component of plasma membraneGO:0058878.1F2R, GP5, GP9, GP1BB, GP1BA, ITGB3
10plasma membraneGO:0058864.9FGA, F2R, F2, F9, GP5, GP9

Biological processes related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:01718710.0F2, F9
2positive regulation of blood coagulationGO:03019410.0F2, F2R
3positive regulation of leukocyte migrationGO:00268710.0ITGA2, ITGA2B
4regulation of blood coagulationGO:0301939.9GP1BA, F2, F2R
5fibrinolysisGO:0427309.9GP1BA, F2
6positive regulation of smooth muscle contractionGO:0459879.9ITGA2, F2R
7positive regulation of release of sequestered calcium ion into cytosolGO:0512819.8F2, F2R
8response to woundingGO:0096119.8F2R, F2, VWF
9positive regulation of collagen biosynthetic processGO:0329679.7ITGA2, F2, F2R
10platelet aggregationGO:0705279.6ITGB3, ITGA2B
11positive regulation of protein phosphorylationGO:0019349.6ITGB3, THPO, F2
12negative regulation of platelet activationGO:0105449.6GP5, F2
13cell surface receptor signaling pathwayGO:0071669.4GP1BA, GP1BB, F2
14leukocyte migrationGO:0509009.3F2, MYH9, ITGB3
15integrin-mediated signaling pathwayGO:0072299.2MYH9, ITGB3, ITGA2B, ITGA2
16axon guidanceGO:0074119.2MYH9, ITGB3, ITGA2B, ITGA2
17platelet degranulationGO:0025768.8VWF, ITGB3, ITGA2B, F8, FGA
18cell-matrix adhesionGO:0071608.8GP5, ITGB3, ITGA2B, ITGA2
19extracellular matrix organizationGO:0301988.5VWF, RECK, ITGB3, ITGA2B, ITGA2, FGA
20blood coagulation, intrinsic pathwayGO:0075977.8F2, F8, GP1BA, GP1BB, GP9, GP5
21cell adhesionGO:0071557.2VWF, GP5, GP9, GP1BB, GP1BA, ITGB3
22platelet activationGO:0301686.5GP1BA, GP1BB, GP9, GP5, THPO, VWF
23blood coagulationGO:0075965.8FGA, F8, ITGA2, ITGA2B, ITGB3, GP1BA

Molecular functions related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thrombin receptor activityGO:0150579.7GP1BA, F2R
2serine-type endopeptidase activityGO:0042529.2F8, F9, F2
3collagen bindingGO:0055188.8VWF, GP5, ITGA2
4protein bindingGO:0055156.1FGA, F2R, F2, VWF, GP1BB, GP1BA

Products for genes affiliated with Bernard-Soulier Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet