BSS
MCID: BRN019
MIFTS: 59

Bernard-Soulier Syndrome (BSS) malady

Blood diseases category

Summaries for Bernard-Soulier Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Bernard–Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy, is a rare... 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 GP1BA (glycoprotein Ib (platelet), alpha polypeptide), and among its related pathways are Gamma-carboxylation, transport, and amino-terminal cleavage of proteins and Common Pathway. The compounds acetaminophen and warfarin have been mentioned in the context of this disorder. Affiliated tissues include whole blood, myeloid and heart, and related mouse phenotypes are embryogenesis and digestive/alimentary.

Description from OMIM:46 153670,231200

Aliases & Classifications for Bernard-Soulier Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 22GTR, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

bernard-soulier syndrome 8 42 10 44 60
bernard soulier syndrome 8 22
giant platelet syndrome 8 42
hemorrhagic dystrophic thrombocytopenia 8
hemorrhagiparous thrombocytic dystrophy 42
deficiency of platelet glycoprotein 1b 42
bernard - soulier thrombopathy 8
thrombopathy, bernard-soulier 8
giant platelet disease 42
bss 42


External Ids:

Disease Ontology8 DOID:2217
NCIt39 C84595
MeSH34 D001606

Related Diseases for Bernard-Soulier Syndrome

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17GeneCards, 18GeneDecks
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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 141)
idRelated DiseaseScoreTop Affiliating Genes
1glanzmann's thrombasthenia31.0ITGB3, ITGA2B
2von willebrand's disease30.8GP1BA, F2, VWF, F11, ITGA2B, F9
3thrombocytopenia30.7ITGB3, ITGA2B, ITGA2, MYH9, RECK, FGA
4acute leukemia30.6THPO, FGA, MYH9
5myeloid leukemia30.6THPO, MYH9, NEU1
6hepatitis30.6F9, F8, F2, F2R
7atherosclerosis30.5ITGB3, ITGA2B, RECK, FGA, VWF, F2R
8leukemia30.5F9, F8, ITGB3, ITGA2B, F11, MYH9
9purpura30.3THPO
10factor xii deficiency30.3F9, VWF
11hepatitis a30.3F2, F8
12blood platelet disease30.3F8, VWF, F2R
13vasculitis30.3FGA, VWF, F2
14antiphospholipid syndrome30.3F8, VWF, F2
15factor xi deficiency30.3F9, F8, F11, F2
16hepatitis c30.3F9, F8, NEU1, F2, F2R, THPO
17breast cancer30.3F9, ITGB3, ITGA2, NEU1, RECK, GP1BA
18myocardial infarction30.3F9, F8, ITGB3, ITGA2B, ITGA2, F11
19bernard-soulier syndrome type c10.6
20bernard-soulier syndrome type b10.6
21angiodysplasia10.5
22bernard-soulier syndrome, type a210.5
23bernard-soulier syndrome type a10.5
24acute myeloid leukemia10.4
25bernard-soulier syndrome, type a110.4
26gaucher's disease10.2
27digeorge syndrome10.2
28autoimmune hepatitis10.2
29n syndrome10.2
30hermansky-pudlak syndrome10.2
31drug dependence10.2
32urticaria10.2
33polymicrogyria10.2
34medich giant platelet syndrome10.2
35brown-sequard syndrome10.1
36brooke-spiegler syndrome10.0
37bronchitis10.0
38endophthalmitis10.0
39hemorrhagic disease10.0F9
40cerebrovascular disease10.0RECK
41obesity10.0F2R
42afibrinogenemia10.0FGA
43dilated cardiomyopathy10.0FGA
44hemolytic-uremic syndrome10.0VWF
45colorectal cancer10.0RECK
46lupus erythematosus10.0F2
47hypertension10.0F2
48splenic sequestration10.0THPO
49amyloidosis10.0F9
50uremia10.0VWF

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



Diseases related to bernard-soulier syndrome

Clinical Features for Bernard-Soulier Syndrome

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46OMIM
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Clinical features from OMIM:

153670,231200

Drugs & Therapeutics for Bernard-Soulier Syndrome

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

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Drug clinical trials:

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Genetic Tests for Bernard-Soulier Syndrome

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22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Bernard-Soulier Syndrome:

32
Whole blood, Myeloid, Heart, Breast

Animal Models for Bernard-Soulier Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Bernard-Soulier Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.3ITGA2B, FGA, F2, F2R
2MP:00053818.6F2R, F2, VWF, FGA, ITGA2B, ITGB3
3MP:00053848.3NEU1, MYH9, VWF, GP1BA, F2, F2R
4MP:00053707.8F9, ITGB3, NEU1, F11, RECK, FGA
5MP:00053856.7F9, ITGB3, ITGA2B, NEU1, F11, MYH9
6MP:00053876.4F9, F8, ITGB3, ITGA2B, NEU1, F11
7MP:00107686.2F9, F8, ITGB3, NEU1, F11, MYH9
8MP:00053975.6THPO, F9, F8, ITGB3, ITGA2B, ITGA2
9MP:00053765.0NEU1, ITGA2, ITGA2B, ITGB3, F8, F9

Publications for Bernard-Soulier Syndrome

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50PubMed
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Articles related to Bernard-Soulier Syndrome:

(show top 50)    (show all 219)
idTitleAuthorsYear
1
Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy. (22044935)
2012
2
A A386G biallelic GPIbI+ gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis. (21993687)
2011
3
Bernard-Soulier syndrome. (21357716)
2011
4
The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbI^. (19484238)
2010
5
Bernard Soulier syndrome in pregnancy: a systematic review. (20070385)
2010
6
Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression. (18825380)
2009
7
A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome. (19448529)
2009
8
Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran. (17763149)
2007
9
Bernard-Soulier syndrome: an inherited platelet disorder. (18081445)
2007
10
Familial aquagenic urticaria and bernard-soulier syndrome. (16319487)
2006
11
Successful pregnancy outcome in Bernard-Soulier syndrome. (15669993)
2005
12
Glanzmann thrombasthenia and Bernard-Soulier syndrome in south Iran. (16178914)
2005
13
An 8-year-old girl with thrombocytopenia. Bernard-Soulier syndrome variant. (16329740)
2005
14
Hematopoietic stem-cell transplantation for the Bernard-Soulier syndrome. (12513061)
2003
15
Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome]. (14575593)
2003
16
Bernard-Soulier syndrome in a Turkish family. (12296619)
2002
17
Are patients with Glanzmann thrombasthenia and the Bernard-Soulier syndrome protected against atherosclerosis? (11554587)
2001
18
A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient. (11758225)
2001
19
Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. (11167791)
2001
20
Successful intravenous interferon-beta treatment of chronic hepatitis C in a patient with Bernard-Soulier syndrome. (11108901)
2000
21
Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. (10928480)
2000
22
The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome. (10216092)
1999
23
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
24
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. (9886312)
1998
25
Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome. (9432024)
1997
26
Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion. (8950770)
1996
27
Recurrent mutation Asn45-->Ser of glycoprotein IX in Bernard-Soulier syndrome. (8856096)
1996
28
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. (8703016)
1996
29
Glycoprotein IIb-IIIa and glycoprotein IV expression on Bernard-Soulier syndrome platelets. (7540073)
1995
30
Biochemical and molecular basis of Bernard-Soulier syndrome: a review. (8904201)
1995
31
Bernard-Soulier syndrome: quantitative characterization of megakaryocytes and platelets by flow cytometric and platelet kinetic measurements. (8005229)
1994
32
An acquired-pseudo Bernard Soulier syndrome occurring with autoimmune chronic active hepatitis and anti-cardiolipin antibody. (8183781)
1994
33
Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome. (7819107)
1994
34
Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. (8049428)
1994
35
Defective adhesion of blood platelets to vascular microfibrils in the Bernard-Soulier syndrome. (8400250)
1993
36
Molecular pathology of the Bernard-Soulier syndrome, platelet-type von Willebrand's disease and Glanzmann's thrombasthenia. (7693249)
1993
37
Bernard-Soulier syndrome presenting as a life-threatening gastrointestinal hemorrhage. (17590733)
1993
38
Bernard-Soulier syndrome: a case report. (7886580)
1993
39
Hemobilia in a case of Bernard-Soulier syndrome. (8250000)
1993
40
Differentiation between Bernard-Soulier syndrome and immune thrombocytopenia by immunostaining of peripheral blood. (2693494)
1989
41
The use of fluorescence flow cytometry in the characterization of Bernard-Soulier syndrome and Glanzmann's thrombasthenia. (2498181)
1989
42
Bernard-Soulier syndrome: whole blood diagnostic assays of platelets. (2725065)
1989
43
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
44
Pseudo-Bernard-Soulier syndrome: thrombocytopenia caused by autoantibody to platelet glycoprotein Ib. (3607280)
1987
45
A case of Bernard-Soulier syndrome: study of platelet glycoprotein Ib in a kindred. (3666106)
1987
46
Reevaluation of the presence of the major antigen Ca++ complex in Bernard-Soulier syndrome platelets. Elastase degradation of the complex in Bernard-Soulier syndrome platelet preparations. (6190243)
1983
47
Defective adhesion of platelets to subendothelium in von Willebrand's disease and Bernard-Soulier syndrome. (309194)
1978
48
Comparison of von Willebrand disease and Bernard-Soulier syndrome. (304260)
1977
49
Platelet membrane glycoproteins implicated in ristocetin-induced aggregation. Studies of the proteins on platelets from patients with Bernard-Soulier syndrome and von Willebrand's disease. (1081991)
1976
50
Ultrastructure of platelets in Bernard-Soulier syndrome. (1171340)
1975

Genetic Variations for Bernard-Soulier Syndrome

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Expression for genes affiliated with Bernard-Soulier Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
53Reactome, 49PharmGKB, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 52R&D Systems
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Pathways related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.9F2, F9
2
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9.9F2, FGA
39.4ITGA2, ITGA2B, ITGB3
49.4ITGA2, ITGA2B, ITGB3
5
Hide members
9.4ITGB3, ITGA2B, ITGA2
6
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9.1ITGB3, ITGA2B, FGA, VWF
7
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9.0ITGB3, ITGA2B, ITGA2, VWF
8
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9.0MYH9, ITGA2, ITGA2B, ITGB3
9
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9.0ITGB3, ITGA2B, ITGA2, MYH9
10
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9.0ITGB3, ITGA2B, ITGA2, MYH9
11
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8.9ITGB3, ITGA2B, ITGA2, F2R, THPO
128.8ITGB3, ITGA2B, ITGA2, VWF, F2R
138.7VWF, GP9, GP1BA, GP5, GP1BB
14
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8.5ITGB3, ITGA2B, ITGA2, F2, F2R, THPO
15
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8.5F8, ITGB3, ITGA2B, FGA, VWF
16
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8.5ITGB3, ITGA2B, ITGA2, FGA, F2, F2R
17
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8.4ITGB3, ITGA2B, ITGA2, MYH9, F2, F2R
18
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8.4ITGB3, ITGA2B, ITGA2, MYH9, F2, F2R
198.3GP1BB, GP5, GP1BA, GP9, VWF, ITGA2
20
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8.2ITGA2B, ITGA2, FGA, VWF, F2, F2R
21
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8.1F9, F8, ITGB3, ITGA2B, ITGA2, F11
22
Hide members
8.0F9, F8, F11, FGA, VWF, F2
237.7ITGB3, ITGA2B, ITGA2, GP9, GP1BA, GP5
24
Hide members
7.6THPO, F2R, F2, GP1BB, GP5, GP1BA
25
Hide members
7.4F9, F8, ITGB3, ITGA2B, ITGA2, F11
26
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7.3VWF, FGA, ITGA2, ITGA2B, ITGB3, GP9
27
Hide members
7.1VWF, FGA, ITGA2B, ITGB3, GP9, GP1BA
286.9F2R, F2, GP1BB, GP5, GP9, VWF
29
Hide members
6.8F9, F2, GP1BB, GP5, GP1BA, GP9

Compounds for genes affiliated with Bernard-Soulier Syndrome

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Sources:
44Novoseek, 2BitterDB, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 125)
idCompoundScoreTop Affiliating Genes
1acetaminophen44 2 49 11 2414.2F9
2warfarin44 49 11 2413.0FGA, F9, VWF
3bivalirudin44 1110.8F2R, F2, FGA
4ppack449.7F2R, FGA, VWF, F2
5estrogen449.7F9, F8, THPO
611-dehydrothromboxane b2449.7F2, VWF, FGA
7glucose449.7F2R, GP1BA, RECK
8tributylphosphate449.6F9, F8, VWF
9guanidino449.6ITGA2, NEU1, F2R
10rfviii449.6VWF, F9, F8
11adp44 28 2411.6ITGA2B, ITGA2, FGA, GP9, F2R
12kaolin449.5F9, F8, F2
13Coagulation Factor IX119.4F2, F11, F8
14thromboxane44 2410.4ITGA2, FGA, VWF, F2R, THPO
15dermatan sulfate449.4F11, F9, F2, VWF
16tranexamic acid44 1110.4F2, F8, VWF, F9
17kininogen449.3F9, F11, VWF, GP1BA, F2
18hydroxyethyl starch449.3F8, F2, VWF
19aspartate449.3F8, GP9, GP1BB, F2, F2R
20clopidogrel49 44 11 2412.1F2, F2R, VWF, ITGA2, ITGB3
21abciximab44 1110.1ITGB3, ITGA2B, F2R, VWF, F2, GP1BA
22prostacyclin448.9GP1BA, F8, FGA, VWF, THPO, F2R
23tirofiban44 119.9ITGA2, ITGB3, ITGA2B, F2, F2R, VWF
24aprotinin44 119.9F11, F9, FGA, VWF, RECK, F2R
25homocysteine44 249.9F2, VWF, F9, F8, F11
26thromboxane a244 249.8VWF, FGA, THPO, F2R, F8, ITGA2
27desmopressin44 59 28 1111.8F8, F11, F9, F2, VWF, GP1BA
28sialic acid448.6F9, F8, THPO, NEU1, RECK
29endotoxin448.6F11, F8, F9, RECK, FGA
30arachidonic acid44 28 11 2411.6THPO, VWF, F2R, RECK, ITGA2, ITGA2B
31methionine448.5F9, VWF, RECK, F8, ITGA2, GP1BA
32latex448.4F9, THPO, F2R, GP1BA, VWF, FGA
33phosphatidylcholine448.3F2, NEU1, F8, ITGA2, F9
34phospholipid448.3VWF, F11, ITGA2, F8, F2R, F9
35epinephrine44 11 2410.3VWF, FGA, F2, F2R, THPO, F8
36vegf448.2VWF, F8, RECK, F2R, THPO
37polyacrylamide448.0NEU1, ITGA2, ITGB3, F8, F9, RECK
38alanine448.0THPO, F2, GP1BA, F9, ITGB3, F8
39lysine448.0F8, THPO, ITGB3, ITGA2B, ITGA2, RECK
40hirudin448.0THPO, F2R, F2, GP1BA, VWF, FGA
41serine448.0GP1BB, GP9, FGA, F11, NEU1, ITGA2B
42phosphatidylserine44 28 119.7VWF, F2, GP1BA, RECK, NEU1, ITGB3
43lactate447.6THPO, RECK, F8, F2, FGA, VWF
44heparin44 28 11 2410.3F9, F8, NEU1, F11, RECK, FGA
45ristocetin447.1F2R, F2, F8, F9, ITGB3, F11
46aspirin44 49 28 2410.0THPO, F2R, F2, GP1BA, GP5, VWF
47tyrosine446.9MYH9, ITGA2, F8, RECK, FGA, VWF
48cysteine446.9ITGB3, F9, F8, RECK, ITGA2, NEU1
49calcium44 49 11 249.7GP1BA, THPO, F9, F8, F2R, ITGB3
50fibrinogen445.3F9, FGA, RECK, F8, ITGB3, ITGA2

GO Terms for genes affiliated with Bernard-Soulier Syndrome

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16Gene Ontology
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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:0310929.6ITGB3, ITGA2B
3platelet alpha granule lumenGO:0310939.3F8, FGA, VWF
4external side of plasma membraneGO:0098979.3VWF, FGA, ITGA2, ITGA2B
5integrin complexGO:0083059.2ITGB3, ITGA2B, ITGA2, MYH9
6integral to plasma membraneGO:0058878.1ITGB3, ITGA2B, GP9, GP1BA, GP5, GP1BB
7extracellular regionGO:0055767.7F9, F8, F11, FGA, VWF, F2
8plasma membraneGO:0058864.6F2R, F9, F8, ITGB3, ITGA2B, ITGA2

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:01718710.0F2, F9
2positive regulation of blood coagulationGO:03019410.0F2R, F2
3regulation of blood coagulationGO:03019310.0GP1BA, F2, F2R
4fibrinolysisGO:04273010.0F2, GP1BA
5response to woundingGO:0096119.8VWF, F2, F2R
6positive regulation of release of sequestered calcium ion into cytosolGO:0512819.6F2R, F2
7negative regulation of platelet activationGO:0105449.5F2, GP5
8integrin-mediated signaling pathwayGO:0072299.2MYH9, ITGA2, ITGA2B, ITGB3
9leukocyte migrationGO:0509009.2F2, MYH9, ITGB3
10axon guidanceGO:0074119.0ITGB3, ITGA2B, ITGA2, MYH9
11extracellular matrix organizationGO:0301989.0ITGB3, ITGA2B, ITGA2, RECK
12platelet degranulationGO:0025768.8F8, ITGB3, ITGA2B, FGA, VWF
13cell-matrix adhesionGO:0071608.8ITGB3, ITGA2B, ITGA2, GP5
14blood coagulation, intrinsic pathwayGO:0075977.4F2, GP1BB, GP5, GP1BA, GP9, VWF
15cell adhesionGO:0071557.3F8, ITGB3, ITGA2B, ITGA2, VWF, GP9
16platelet activationGO:0301686.5GP1BA, GP9, VWF, FGA, ITGA2B, ITGB3
17blood coagulationGO:0075965.5THPO, F2R, F2, GP1BB, GP5, GP1BA

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

idNameGO IDScoreTop Affiliating Genes
1thrombin receptor activityGO:01505710.0F2R, GP1BA
2collagen bindingGO:0055188.7GP5, VWF, ITGA2
3protein bindingGO:0055155.8F2R, F8, ITGB3, ITGA2B, ITGA2, F11

Products for genes affiliated with Bernard-Soulier Syndrome

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Sources for 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet