BSS
MCID: BRN019
MIFTS: 64

Bernard-Soulier Syndrome (BSS) malady

Genetic diseases, Rare diseases, Blood diseases categories
Download this MalaCard

Summaries for Bernard-Soulier Syndrome

About this section
Sources:
65Wikipedia, 47OMIM, 33MalaCards
See all sources

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

MalaCards: Bernard-Soulier Syndrome, also known as bernard soulier syndrome, is related to glanzmann's thrombasthenia and von willebrand's disease. 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, myeloid and heart, and related mouse phenotypes are digestive/alimentary and reproductive system.

Description from OMIM:47 231200,153670

Aliases & Classifications for Bernard-Soulier Syndrome

About this section
Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 62UMLS, 22GTR, 58SNOMED-CT, 47OMIM, 35MeSH, 40NCIt
See all sources

Classifications:

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


Aliases & Descriptions:

bernard-soulier syndrome 8 43 10 45 62
bernard soulier syndrome 8 22
giant platelet syndrome 8 43
macrothrombocytopenia, familial bernard-soulier type 43
von willebrand factor receptor deficiency 43
hemorrhagic dystrophic thrombocytopenia 8
platelet glycoprotein 1b, deficiency of 43
hemorrhagiparous thrombocytic dystrophy 43
deficiency of platelet glycoprotein 1b 43
bernard - soulier thrombopathy 8
thrombopathy, bernard-soulier 8
giant platelet disease 43
bss 43


External Ids:

Disease Ontology8 DOID:2217
MeSH35 D001606
NCIt40 C84595

Related Diseases for Bernard-Soulier Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 114)
idRelated DiseaseScoreTop Affiliating Genes
1glanzmann's thrombasthenia31.2ITGA2B, ITGB3
2von willebrand's disease30.9F8, ITGA2B, GP1BA, F9, VWF, F2
3hepatitis30.7F9, F2, F8, F2R
4purpura30.6THPO
5factor xii deficiency30.6F9, VWF
6atherosclerosis30.5VWF, RECK, ITGB3, FGA, F2R, ITGA2B
7vasculitis30.5F2, VWF, FGA
8factor xi deficiency30.5F9, F8, F2
9leukemia30.4F8, ITGA2B, FGA, ITGB3, RECK, MYH9
10breast cancer30.3GP1BA, RECK, ITGA2, NEU1
11hepatitis c30.3F9, F2R, F2, F8, THPO, NEU1
12thrombocytopenia30.2F8, FGA, ITGA2, ITGA2B, ITGB3, RECK
13myocardial infarction30.1F2R, VWF, F9, GP1BA, RECK, ITGB3
14thrombasthenia10.9
15bernard-soulier syndrome type c10.7
16bernard-soulier syndrome type b10.6
17angiodysplasia10.6
18bernard-soulier syndrome, type a210.6
19bernard-soulier syndrome type a10.5
20acute myeloid leukemia10.4
21myeloid leukemia10.4
22bernard-soulier syndrome, type a110.4
23gaucher's disease10.3
24hermansky-pudlak syndrome10.3
25drug dependence10.3
26urticaria10.3
27polymicrogyria10.3
28aquagenic urticaria10.3
29hematopoietic stem cell transplantation10.3
30medich giant platelet syndrome10.2
31brown-sequard syndrome10.2
32afibrinogenemia10.1FGA
33warfarin sensitivity10.1F9
34intermittent claudication10.1VWF
35antithrombin iii deficiency10.1F2
36gray platelet syndrome10.1GP5, GP9
37pseudo-von willebrand disease10.1GP1BA, VWF
38cardiac tamponade10.1F8
39thrombophlebitis10.1F8
40dysfibrinogenemia10.1F2, FGA
41thrombocytopenia due to platelet alloimmunization10.1ITGA2B, GP5, THPO
42factor x deficiency10.1F9, F2
43acute liver failure10.1F2, THPO
44hypersplenism10.1THPO, F2
45factor v deficiency10.1F8, F2
46prion disease10.1RECK, F8
47portal hypertension10.1F2, THPO
48protein c deficiency10.1F2, F9
49vitamin k deficiency hemorrhagic disease10.1F2, F8
50hemorrhagic thrombocythemia10.1VWF, THPO

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



Diseases related to bernard-soulier syndrome

Symptoms for Bernard-Soulier Syndrome

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

231200,153670

Drugs & Therapeutics for Bernard-Soulier Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Bernard-Soulier Syndrome

Search NIH Clinical Center for Bernard-Soulier Syndrome

Genetic Tests for Bernard-Soulier Syndrome

About this section
Sources:
22GTR
See all sources

Genetic tests related to Bernard-Soulier Syndrome:

id Genetic test Affiliating Genes
1 Bernard Soulier Syndrome22

Anatomical Context for Bernard-Soulier Syndrome

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Bernard-Soulier Syndrome:

33
Whole blood, Myeloid, Heart, Breast

Animal Models for Bernard-Soulier Syndrome or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Bernard-Soulier Syndrome:

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

Publications for Bernard-Soulier Syndrome

About this section
Sources:
52PubMed
See all sources

Articles related to Bernard-Soulier Syndrome:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein IbI^ mutation. (24051937)
2014
2
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. (24319190)
2013
3
Molecular pathology of Bernard-Soulier syndrome in Indian patients. (23402648)
2013
4
Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome. (22569901)
2012
5
Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy. (22044935)
2012
6
Novel mutation in the glycoprotein IbI^ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. (22343686)
2012
7
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
8
A A386G biallelic GPIbI+ gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis. (21993687)
2011
9
Intractable gastrointestinal bleeding from angiodysplasia in a patient with Bernard-Soulier syndrome. (21085964)
2011
10
Bernard-Soulier syndrome. (21357716)
2011
11
The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbI^. (19484238)
2010
12
Intrinsic impaired proplatelet formation and microtubule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrome. (19377075)
2009
13
Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. (19067792)
2009
14
A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype. (19404517)
2009
15
Perioperative management of a patient with Bernard-Soulier syndrome for third molar surgery. (17174124)
2007
16
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
17
Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations. (16978236)
2006
18
Allogeneic stem cell transplantation as a new treatment option for patients with severe Bernard-Soulier Syndrome. (16543979)
2006
19
Gastric angiodysplasia in a child with Bernard-Soulier syndrome: efficacy of octreotide in long-term management. (16020106)
2005
20
Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology? (15823864)
2005
21
Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome. (15567653)
2004
22
A novel mutation in the transmembrane region of glyco-protein IX associated with Bernard-Soulier syndrome. (15351858)
2004
23
Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. (14510954)
2003
24
Heterozygotes in the bernard-soulier syndrome do not necessarily have giant platelets or thrombocytopenia. (12588363)
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

About this section

Expression for genes affiliated with Bernard-Soulier Syndrome

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG, 60Thomson Reuters, 54R&D Systems, 51PharmGKB
See all sources

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

(show all 32)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ITGB3, ITGA2B
29.7ITGB3, ITGA2B
39.3ITGA2, ITGA2B, ITGB3
49.3ITGA2, ITGA2B, ITGB3
59.3ITGA2, ITGA2B, ITGB3
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.3ITGA2B, ITGA2, ITGB3
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
9.2ITGB3, ITGA2, MYH9
8
Show member pathways
9.0FGA, ITGA2, ITGA2B, ITGB3
99.0FGA, ITGA2, ITGA2B, ITGB3
10
Show member pathways
9.0ITGB3, THPO, ITGA2B, ITGA2
11
Show member pathways
9.0FGA, F8, F9, F2
12
Show member pathways
8.9ITGA2, ITGB3, MYH9, ITGA2B
13
Show member pathways
8.9ITGB3, MYH9, ITGA2, ITGA2B
14
Show member pathways
8.9ITGA2, MYH9, ITGA2B, ITGB3
15
Show member pathways
8.7ITGA2B, F2R, THPO, ITGB3, ITGA2
168.7F2R, VWF, ITGB3, ITGA2B, ITGA2
178.7VWF, GP9, GP1BA, GP1BB, GP5
18
Show member pathways
8.6ITGA2, THPO, MYH9, ITGB3, ITGA2B
19
Show member pathways
8.5F8, ITGA2B, FGA, VWF, ITGB3
20
Show member pathways
8.5F2R, F2, VWF, ITGB3, FGA, ITGA2B
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
8.4ITGB3, ITGA2B, F2, ITGA2, FGA, F2R
22
Show member pathways
8.4F2, F2R, THPO, ITGA2B, ITGB3, ITGA2
23
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
8.4FGA, F2R, VWF, F9, F8, F2
24
Show member pathways
8.3ITGA2, ITGA2B, ITGB3, MYH9, F2R, F2
25
Show member pathways
8.3F2R, ITGA2B, F2, MYH9, ITGA2, ITGB3
268.3VWF, GP5, ITGA2, GP1BA, GP1BB, GP9
277.5GP1BA, THPO, GP5, ITGA2, GP1BB, GP9
28
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
7.5VWF, GP5, GP9, GP1BB, GP1BA, ITGA2B
29
Show member pathways
7.2F2, VWF, F9, GP5, GP9, GP1BB
30
Show member pathways
7.0F2, VWF, THPO, GP5, GP9, GP1BB
316.8VWF, GP5, GP9, GP1BB, ITGB3, ITGA2B
32
Show member pathways
5.4FGA, F8, F2R, F2, VWF, THPO

Compounds for genes affiliated with Bernard-Soulier Syndrome

About this section
Sources:
45Novoseek, 11DrugBank, 24HMDB, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 3BitterDB
See all sources

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

(show top 50)    (show all 136)
idCompoundScoreTop Affiliating Genes
1bivalirudin45 1110.8F2R, FGA, F2
2ppack459.7FGA, VWF, F2, F2R
311-dehydrothromboxane b2459.6F2, FGA, VWF
4guanidino459.6F2R, ITGA2, NEU1
5tributylphosphate459.6VWF, F8, F9
6rfviii459.5F8, F9, VWF
7kaolin459.5F9, F2, F8
8kininogen459.5GP1BA, F9, VWF, F2
9thromboxane45 2410.3ITGA2, VWF, FGA, F2R, THPO
10hydroxyethyl starch459.3F8, VWF, F2
11pge1459.3VWF, F2, F2R, FGA
12tranexamic acid45 1110.3VWF, F8, F9, F2
13desmopressin45 61 29 1112.1VWF, F8, F2, F9, GP1BA
14warfarin45 51 24 1112.0F8, FGA, VWF, F9, F2
15clopidogrel45 51 24 1112.0ITGA2, F2, F2R, ITGB3, VWF
16abciximab45 1110.0F2R, VWF, ITGA2B, ITGB3, GP1BA, F2
17prostacyclin458.9F2R, VWF, THPO, F8, FGA, GP1BA
18tirofiban45 119.8ITGA2, F2R, ITGB3, F2, VWF, ITGA2B
19thromboxane a245 249.7F8, VWF, THPO, ITGA2, FGA, F2R
20arachidonic acid45 29 24 1111.7F2R, VWF, THPO, RECK, ITGA2B, ITGA2
21aprotinin45 119.7RECK, GP1BA, F9, FGA, VWF, F2R
22sialic acid458.6F8, THPO, F9, NEU1, RECK
23acetaminophen45 3 51 24 1112.6F9, F8, VWF, F2
24phosphatidylcholine458.6F8, ITGA2, NEU1, F9, F2
25phospholipid458.5ITGA2, F8, VWF, F2, F2R, F9
26methionine458.4VWF, RECK, F9, GP1BA, F8, ITGA2
27creatinine458.4THPO, F2, VWF, F8, F9, FGA
28threonine458.3F9, GP9, GP1BA, MYH9, ITGB3, ITGA2
29hirudin458.3FGA, F8, GP1BA, F9, THPO, VWF
30latex458.2F2R, FGA, F8, ITGA2, GP1BA, F9
31epinephrine45 24 1110.2F2, VWF, F8, GP1BA, THPO, F2R
32polyacrylamide458.0ITGB3, F8, F9, NEU1, RECK, ITGA2
33lysine457.9ITGA2B, F9, RECK, THPO, ITGA2, F8
34alanine457.9ITGB3, F2, GP1BA, VWF, THPO, F9
35vegf457.8THPO, VWF, F2R, RECK, ITGB3, ITGA2
36aspartate457.7F2, VWF, F9, GP1BB, F8, ITGA2
37glucose457.6ITGA2, F2R, ITGB3, RECK, GP1BA, F8
38phosphatidylserine45 29 119.6F8, NEU1, GP1BA, RECK, F9, ITGB3
39lactate457.5F2, GP1BA, THPO, FGA, GP5, RECK
40leucine457.4GP5, RECK, ITGB3, F8, F9, GP1BA
41ristocetin457.3ITGB3, GP9, RECK, GP1BA, GP1BB, F8
42estrogen457.2THPO, F8, ITGB3, RECK, F2R, F2
43heparin45 29 24 119.9F9, THPO, VWF, F2, F2R, RECK
44aspirin45 51 29 249.9F2R, F2, VWF, THPO, GP5, GP1BA
45tyrosine456.8F9, FGA, F8, ITGA2, ITGB3, MYH9
46cysteine456.7F8, ITGA2, ITGA2B, RECK, GP9, F9
47calcium45 51 24 119.5F2R, FGA, F8, ITGA2, ITGA2B, RECK
48adp45 29 248.4VWF, F2, F2R, GP9, THPO, F9
49serine456.4F8, ITGB3, GP1BA, GP1BB, FGA, GP9
50fibrinogen455.6THPO, RECK, GP1BA, GP9, GP5, F9

GO Terms for genes affiliated with Bernard-Soulier Syndrome

About this section
Sources:
16Gene Ontology
See all sources

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:00268710.0ITGA2B, ITGA2
4regulation of blood coagulationGO:0301939.9F2R, F2, GP1BA
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:0096119.8VWF, F2R, F2
9positive regulation of collagen biosynthetic processGO:0329679.7ITGA2, F2R, F2
10platelet aggregationGO:0705279.6ITGA2B, ITGB3
11positive regulation of protein phosphorylationGO:0019349.6THPO, ITGB3, F2
12negative regulation of platelet activationGO:0105449.6F2, GP5
13cell surface receptor signaling pathwayGO:0071669.4GP1BB, F2, GP1BA
14leukocyte migrationGO:0509009.3ITGB3, MYH9, F2
15integrin-mediated signaling pathwayGO:0072299.2ITGB3, ITGA2, ITGA2B, MYH9
16axon guidanceGO:0074119.2ITGA2B, ITGB3, MYH9, ITGA2
17platelet degranulationGO:0025768.8FGA, F8, ITGA2B, ITGB3, VWF
18cell-matrix adhesionGO:0071608.8ITGA2, ITGB3, GP5, ITGA2B
19extracellular matrix organizationGO:0301988.5ITGA2, RECK, FGA, VWF, ITGA2B, ITGB3
20blood coagulation, intrinsic pathwayGO:0075977.8GP1BA, F8, GP9, F2, GP1BB, VWF
21cell adhesionGO:0071557.2GP9, F8, ITGA2, ITGB3, GP1BA, GP1BB
22platelet activationGO:0301686.5ITGB3, F2R, ITGA2B, F8, FGA, GP1BA
23blood coagulationGO:0075965.8F2R, F2, VWF, THPO, F9, GP9

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:0042529.2F2, F9, F8
3collagen bindingGO:0055188.8GP5, VWF, ITGA2
4protein bindingGO:0055156.1GP1BA, F2R, F2, VWF, GP1BB, MYH9

Products for genes affiliated with Bernard-Soulier Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bernard-Soulier Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet