Bernard-Soulier Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BSS MCID: BRN019 MIFTS: 61	Bernard-Soulier Syndrome (BSS) Categories: Blood diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Bernard-Soulier Syndrome

MalaCards integrated aliases for Bernard-Soulier Syndrome:

Name: Bernard-Soulier Syndrome ⁵⁷ ¹² ⁵³ ²⁵ ⁵⁹ ⁷⁵ ³⁷ ⁵⁵ ⁴⁴ ¹⁵ ⁴⁰ ⁷³

Giant Platelet Syndrome ¹² ⁷⁶ ⁵³ ²⁵ ⁵⁹

Von Willebrand Factor Receptor Deficiency ⁵⁷ ⁵³ ²⁵ ⁷⁵

Bss ⁵⁷ ⁵³ ²⁵ ⁷⁵

Deficiency of Platelet Glycoprotein 1b ⁵³ ²⁵ ⁷³

Platelet Glycoprotein Ib Deficiency ⁵⁷ ²⁵ ⁷⁵

Bernard-Soulier Syndrome, Type A1 ⁵⁷ ¹³ ⁶

Bernard-Soulier Syndrome, Type B ⁵⁷ ²⁹ ⁶

Bernard-Soulier Syndrome Type C ⁷⁵ ²⁹ ⁶

Bernard Soulier Syndrome ¹² ²⁹ ⁶

Bdplt1 ⁵⁷ ²⁵ ⁷⁵

Macrothrombocytopenia, Familial Bernard-Soulier Type ⁵³ ²⁵

Glycoprotein Ib, Platelet, Deficiency of ⁵⁷ ²⁵

Hemorrhagiparous Thrombocytic Dystrophy ⁵³ ⁵⁹

Bleeding Disorder, Platelet-Type, 1 ⁵⁷ ²⁵

Giant Platelet Disease ⁵³ ⁷⁵

Macrothrombocytopenia, Familial, Bernard-Soulier Type ⁶

Bleeding Disorder, Platelet-Type, 1; Bdplt1 ⁵⁷

Hemorrhagioparous Thrombocytic Dystrophy ²⁵

Hemorrhagic Dystrophic Thrombocytopenia ¹²

Platelet Glycoprotein 1b, Deficiency of ⁵³

Giant Platelet Disorder, Isolated ⁵⁷

Bleeding Disorder Platelet-Type 1 ⁷⁵

Bernard-Soulier Syndrome, Type C ⁵⁷

Bernard-Soulier Syndrome Type A1 ⁷⁵

Bernard-Soulier Syndrome Type B ⁷⁵

Bernard - Soulier Thrombopathy ¹²

Thrombopathy, Bernard-Soulier ¹²

Giant Platelets ²⁹

Gpd ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

bernard-soulier syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

bernard-soulier syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Purpura and other haemorrhagic conditions

Qualitative platelet defects

Orphanet: ⁵⁹

Rare haematological diseases

External Ids:

OMIM ⁵⁷ 231200

Disease Ontology ¹² DOID:2217

MeSH ⁴⁴ D001606

NCIt ⁵⁰ C84595

SNOMED-CT ⁶⁸ 54569005

Orphanet ⁵⁹ ORPHA274

MESH via Orphanet ⁴⁵ D001606

UMLS via Orphanet ⁷⁴ C0005129

ICD10 via Orphanet ³⁴ D69.1

MedGen ⁴² C0005129 C1856447 C1856448 more

KEGG ³⁷ H00224

SNOMED-CT via HPO ⁶⁹ 258211005 386692008 12441001 more

UMLS ⁷³ C0005129 C2713537

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Summaries for Bernard-Soulier Syndrome

Genetics Home Reference : ²⁵ Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. In affected individuals, platelets are unusually large and fewer in number than usual (a combination known as macrothrombocytopenia). People with Bernard-Soulier syndrome tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or prolonged bleeding following minor injury or surgery or even without trauma (spontaneous bleeding). In some affected individuals, bleeding under the skin causes tiny red or purple spots on the skin called petechiae. Women with Bernard-Soulier syndrome often have heavy or prolonged menstrual periods (menorrhagia).

MalaCards based summary : Bernard-Soulier Syndrome, also known as giant platelet syndrome, is related to von willebrand's disease and thrombasthenia. An important gene associated with Bernard-Soulier Syndrome is GP9 (Glycoprotein IX Platelet), and among its related pathways/superpathways are ECM-receptor interaction and Hematopoietic cell lineage. Affiliated tissues include skin, bone and myeloid, and related phenotypes are abnormal bleeding and thrombocytopenia

Disease Ontology : ¹² An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material basis in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 274Disease definitionBernard Soulier syndrome (BSS) is an inheritedplatelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.Visit the Orphanet disease page for more resources.

OMIM : ⁵⁷ Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 (173511). (231200)

UniProtKB/Swiss-Prot : ⁷⁵ Bernard-Soulier syndrome: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.

Wikipedia : ⁷⁶ Giant platelet disorders are rare disorders featuring abnormally large platelets, thrombocytopenia and a... more...

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Related Diseases for Bernard-Soulier Syndrome

Diseases in the Bernard-Soulier Syndrome family:

Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

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

(show top 50) (show all 107)

#	Related Disease	Score	Top Affiliating Genes
1	von willebrand's disease	30.9	F2 F8 GP1BA VWF
2	thrombasthenia	30.9	F2 GP1BA GP9 ITGA2 ITGA2B ITGB3
3	thrombosis	30.4	F2 F8 GP1BA VWF
4	autosomal dominant macrothrombocytopenia	30.2	GP1BA GP1BB ITGA2B ITGB3 MYH9
5	thrombocytopenic purpura, autoimmune	30.2	GP1BA ITGA2B ITGB3 THPO
6	purpura	30.1	F2 GP1BB ITGA2B ITGB3 THPO VWF
7	thrombocytopenia	30.0	GP1BA GP1BB GP9 ITGA2 ITGA2B ITGB3
8	thrombocytopenia due to platelet alloimmunization	29.7	GP9 ITGA2 ITGA2B ITGB3 MYH9 THPO
9	velocardiofacial syndrome	29.7	GP1BA GP1BB GP9
10	glanzmann thrombasthenia	29.4	CD9 F2 F2R F8 GP1BA GP9
11	myocardial infarction	29.3	F2 F2R F8 GP1BA ITGA2 ITGA2B
12	blood platelet disease	28.6	F2 F2R F8 GP1BA GP1BB GP5
13	bernard-soulier syndrome, type a2, autosomal dominant	12.9
14	medich giant platelet syndrome	12.3
15	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	11.6
16	blood group, gerbich system	11.4
17	camptocormism	11.4
18	brooke-spiegler syndrome	11.3
19	barber-say syndrome	11.2
20	brown-sequard syndrome	11.2
21	platelet glycoprotein iv deficiency	11.1
22	thrombocytopenia, anemia, and myelofibrosis	11.1
23	bleeding disorder, platelet-type, 17	11.1
24	bleeding disorder, platelet-type, 21	11.1
25	angiodysplasia	10.5
26	leukemia, acute myeloid	10.4
27	hematopoietic stem cell transplantation	10.4
28	hepatitis	10.4
29	leukemia	10.4
30	myeloid leukemia	10.4
31	glyceraldehyde-3-phosphate dehydrogenase deficiency	10.3
32	bronchitis	10.3
33	breast cancer	10.2
34	noonan syndrome 1	10.2
35	urticaria, aquagenic	10.2
36	factor xii deficiency	10.2
37	factor xi deficiency	10.2
38	prekallikrein deficiency	10.2
39	polymicrogyria, bilateral temporooccipital	10.2
40	thrombotic thrombocytopenic purpura	10.2
41	urticaria	10.2
42	hepatitis c	10.2
43	gaucher's disease	10.2
44	pharyngitis	10.2
45	hermansky-pudlak syndrome	10.2
46	vasculitis	10.2
47	polymicrogyria	10.2
48	pseudo-turner syndrome	10.2
49	myh-9 related disease	10.2	GP1BA MYH9
50	fainting	10.2	F8 VWF

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

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Symptoms & Phenotypes for Bernard-Soulier Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skin Nails Hair Skin:
purpura

Laboratory Abnormalities:
prolonged bleeding time
reduced platelet glycoprotein ib complex
normal platelet aggregation with adp, collagen, epinephrine
absent platelet agglutination in presence of ristocetin

Hematology:
large platelets
congenital bleeding diathesis
mild thrombocytopenia

Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Abdomen Gastrointestinal:
hemorrhage

Clinical features from OMIM:

231200

Human phenotypes related to Bernard-Soulier Syndrome:

³² (show all 8)

#	Description	HPO Source Accession
1	abnormal bleeding ³²	HP:0001892
2	thrombocytopenia ³²	HP:0001873
3	purpura ³²	HP:0000979
4	epistaxis ³²	HP:0000421
5	prolonged bleeding time ³²	HP:0003010
6	menorrhagia ³²	HP:0000132
7	abnormality of abdomen morphology ³²	HP:0001438
8	increased mean platelet volume ³²	HP:0011877

MGI Mouse Phenotypes related to Bernard-Soulier Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	10.13	CD9 F2 F2R F8 GP1BA GP1BB
2	cellular	MP:0005384	10.07	CD9 F2R GP1BA ITGA2 ITGA2B ITGB3
3	cardiovascular system	MP:0005385	10.01	F2 F2R ITGA2B ITGB3 JUN MYH9
4	homeostasis/metabolism	MP:0005376	9.97	F2 F2R F8 GP1BA GP1BB GP5
5	embryo	MP:0005380	9.87	F2 F2R ITGA2B ITGB3 JUN MYH9
6	immune system	MP:0005387	9.7	CD9 F2 F2R F8 ITGA2B ITGB3
7	normal	MP:0002873	9.17	F2 GP5 ITGA2 ITGB3 JUN MYH9

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Drugs & Therapeutics for Bernard-Soulier Syndrome

Search Clinical Trials , NIH Clinical Center for Bernard-Soulier Syndrome

Cochrane evidence based reviews: bernard-soulier syndrome

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Genetic Tests for Bernard-Soulier Syndrome

Genetic tests related to Bernard-Soulier Syndrome:

#	Genetic test	Affiliating Genes
1	Bernard-Soulier Syndrome, Type B ²⁹
2	Bernard-Soulier Syndrome Type C ²⁹
3	Bernard Soulier Syndrome ²⁹	GP1BA GP1BB GP9
4	Giant Platelets ²⁹

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Anatomical Context for Bernard-Soulier Syndrome

MalaCards organs/tissues related to Bernard-Soulier Syndrome:

⁴¹

Skin, Bone, Myeloid, Whole Blood, Heart, Bone Marrow

Sources

Publications for Bernard-Soulier Syndrome

Articles related to Bernard-Soulier Syndrome:

(show top 50) (show all 258)

#	Title	Authors	Year
1	A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report. ( 29636940 )		2018
2	Bernard-Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA. ( 29119711 )		2018
3	How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. ( 30117143 )	Grainger JD...Will AM	2018
4	A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. ( 30332551 )	Trizuljak J...Doubek M	2018
5	A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations. ( 28765788 )	Kanda K....Ishigami T.	2017
6	Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype. ( 28131619 )	Boeckelmann D....Zieger B.	2017
7	Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations? ( 29119855 )	Boisseau P....Fouassier M.	2017
8	A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia. ( 26849716 )	Ali S....Ghosh K.	2017
9	Does Bernard-Soulier syndrome protect against thrombotic thrombocytopenic purpura? ( 28653757 )		2017
10	Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency. ( 29043243 )		2017
11	Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene. ( 28395735 )		2017
12	Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene. ( 27346198 )	Lopez-Onieva L....Real P.J.	2016
13	Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene. ( 27934591 )		2016
14	Corrigendum to &quot;Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene&quot; [Stem Cell Res. 16/3 (2016) 692-695]. ( 27596517 )		2016
15	Utilization of paravertebral nerve blocks as part of a multimodal analgesic regimen in a patient with Bernard-Soulier syndrome undergoing a Nuss procedure. ( 28913478 )	Bojaxhi E...Greengrass R	2016
16	Primigravida with Bernard-Soulier Syndrome: a case report. ( 25928053 )	MacA-do M.B....Brito J.A.	2015
17	Dental Extractions Management in Bernard-Soulier Syndrome. ( 26267566 )	Ruiz-Roca J.A....RodrA-guez-Lozano F.J.	2015
18	Bernard-Soulier syndrome: A challenge for anesthetist in an emergency surgery. ( 26330734 )	Ul Haq M.I....Nazir M.	2015
19	A diagnostic dilemma: variant Bernard-Soulier syndrome, a difficult clinical and genetic diagnosis. ( 26226975 )		2015
20	Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein IbI^ in a patient with Bernard-Soulier syndrome. ( 26275786 )		2015
21	Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation. ( 26133172 )		2015
22	A Novel Homozygous c.800C&gt;G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome. ( 26044173 )		2015
23	Spectrum of the mutations in Bernard-Soulier syndrome. ( 24934643 )	Savoia A....Lanza F.	2014
24	Bernard-Soulier Syndrome (BSS) &amp; tuberculosis: A case report. ( 26786628 )	Hasanzad M.	2014
25	Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein IbI^ mutation. ( 24051937 )	Sato T....Kusuhara K.	2014
26	Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome - a case control study. ( 25370924 )	Bragadottir G....Onundarson P.T.	2014
27	Non-myeloablative conditioning with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome. ( 25066812 )	Kanaji S....Shi Q.	2014
28	Endodontic management of a patient with Bernard-Soulier syndrome. ( 24778520 )		2014
29	Perioperative management of tonsilloadenoidectomy and circumcision of a patient with Bernard-Soulier syndrome: case report. ( 25068867 )		2014
30	Total Hip Arthroplasty in A Young Patient with Bernard-Soulier Syndrome. ( 27298957 )	Bisland S...Smith F	2014
31	Bernard Soulier Syndrome associated with acute myeloid leukemia. ( 24326767 )	Adlekha S....Chadha T.	2013
32	Bernard-Soulier syndrome: an update. ( 23929303 )	Andrews R.K....Berndt M.C.	2013
33	Molecular pathology of Bernard-Soulier syndrome in Indian patients. ( 23402648 )	Ali S....Shetty S.	2013
34	Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbI+. ( 23414566 )	Yamamoto N....Arai M.	2013
35	Novel genetic abnormalities in Bernard-Soulier syndrome in India. ( 23995613 )	Ali S....Shetty S.	2013
36	A family with Bolzano-type Bernard-Soulier syndrome carries a benign A1939T MYH9 mutation. ( 22372535 )	Sarangi S.N....Chan E.L.	2013
37	Bernard-Soulier syndrome caused by a hemizygous GPIbI^ mutation and 22q11.2 deletion. ( 23566026 )		2013
38	Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. ( 24319190 )		2013
39	Complementary effect of fibrinogen and rFVIIa on clotting ex vivo in Bernard-Soulier syndrome and combined use during three deliveries. ( 23909788 )		2013
40	The Medich giant platelet syndrome: two new cases. ( 22931192 )	Gunning W...White JG	2013
41	Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome. ( 22569901 )	Girolami A....Fabris F.	2012
42	Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy. ( 22044935 )	Kanaji S....Shi Q.	2012
43	Novel mutation in the glycoprotein IbI^ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. ( 22343686 )		2012
44	Successful perioperative management for a breast cancer patient with Bernard-Soulier syndrome. ( 21104349 )		2012
45	Quaternary organization of GPIb-IX complex and insights into Bernard- Soulier syndrome revealed by the structures of GPIbbeta and a GPIbbeta/GPIX chimera. ( 21908432 )	McEwan P.A....Emsley J.	2011
46	Intractable gastrointestinal bleeding from angiodysplasia in a patient with Bernard-Soulier syndrome. ( 21085964 )	Ouakaa-Kchaou A....Ghorbel A.	2011
47	A A386G biallelic GPIbI+ gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis. ( 21993687 )	Vettore S....Fabris F.	2011
48	Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets inA vitro. ( 21322749 )	Balduini A....Noris P.	2011
49	Bernard-Soulier syndrome. ( 21357716 )		2011
50	Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. ( 21173099 )		2011

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Genes for Bernard-Soulier Syndrome

Genes related to Bernard-Soulier Syndrome (3 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GP9	Glycoprotein IX Platelet	Protein Coding	1722.79	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	8481514 9163595 9886312 (more) 11167791 12100158 13442197 8049428 14510954 9886312 11167791 8049428 12850844 16268478 15550031 2316510 14510954 15477207 10590056 7947243 14575593 16251900 10216092 8972003 9579882 18064328 8608228 8856096 9432024
2	GP1BB	Glycoprotein Ib Platelet Subunit Beta	Protein Coding	1721.29	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	7633430 8703016 7949089 (more) 16268478 12945881 15550031 10887115 15477207 8703016 18825380
3	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	1711.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	2308962 7690774 11222377 (more) 1901273 9233564 11776304 19448529 18791947 7949089 8950788 12529755 15550031 10089893 10887115 15477207 7873390 11222377 8950770 7819107 2308962 10216092 7579348 7855797 7690774 11816714 11858495 18064328 7660135 9326229
4	VWF	Von Willebrand Factor	Protein Coding	35.61	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8000916 8770359 20462086 (more) 7900092 9885217 11858495 7660135 10419888 7855797 7579348
5	GP5	Glycoprotein V Platelet	Protein Coding	34.85	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries (show sections)	2372284 15550031 15477207 (more) 8407908 1730602 8888292 8608228
6	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	34.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8457642
7	MYH9	Myosin Heavy Chain 9	Protein Coding	33.37	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15477207 14706930 14635206 (more) 15529446
8	F2	Coagulation Factor II, Thrombin	Protein Coding	28.43	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	9157600 14717981
9	ITGB3	Integrin Subunit Beta 3	Protein Coding	23.74	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	F8	Coagulation Factor VIII	Protein Coding	22.75	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	CD9	CD9 Molecule	Protein Coding	21.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	THPO	Thrombopoietin	Protein Coding	21.38	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	11446655
13	F2R	Coagulation Factor II Thrombin Receptor	Protein Coding	19.57	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	8110787
14	ITGA2	Integrin Subunit Alpha 2	Protein Coding	19.22	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	10097812
15	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	17.37	GeneCards inferred via : Publications (show sections)
16	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	17.37	GeneCards inferred via : Publications (show sections)

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Variations for Bernard-Soulier Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bernard-Soulier Syndrome:

⁷⁵ (show all 14)

#	Symbol	AA change	Variation ID	SNP ID
1	GP1BA	p.Cys81Arg	VAR_005256	rs781541857
2	GP1BA	p.Ala172Val	VAR_005258	rs121908065
3	GP1BA	p.Cys225Ser	VAR_005260
4	GP1BA	p.Leu73Phe	VAR_014206	rs121908063
5	GP1BA	p.Leu145Pro	VAR_014207	rs771048666
6	GP1BB	p.Tyr113Cys	VAR_025000	rs121909750
7	GP1BB	p.Ala133Pro	VAR_025001	rs121909751
8	GP9	p.Asp37Gly	VAR_005263	rs121918036
9	GP9	p.Asn61Ser	VAR_005264	rs5030764
10	GP9	p.Leu7Pro	VAR_024996	rs121918038
11	GP9	p.Cys24Arg	VAR_024997	rs28933378
12	GP9	p.Leu56Pro	VAR_024998	rs28933377
13	GP9	p.Phe71Ser	VAR_024999	rs121918037
14	GP9	p.Cys113Tyr	VAR_025008

ClinVar genetic disease variations for Bernard-Soulier Syndrome:

⁶ (show top 50) (show all 64)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GP1BA	NM_000173.6(GP1BA): c.1077G> A (p.Trp359Ter)	single nucleotide variant	Pathogenic	rs121908061	GRCh37	Chromosome 17, 4836976: 4836976
2	GP1BA	NM_000173.6(GP1BA): c.1077G> A (p.Trp359Ter)	single nucleotide variant	Pathogenic	rs121908061	GRCh38	Chromosome 17, 4933681: 4933681
3	GP1BA	NM_000173.6(GP1BA): c.515C> T (p.Ala172Val)	single nucleotide variant	Pathogenic	rs121908065	GRCh37	Chromosome 17, 4836414: 4836414
4	GP1BA	NM_000173.6(GP1BA): c.515C> T (p.Ala172Val)	single nucleotide variant	Pathogenic	rs121908065	GRCh38	Chromosome 17, 4933119: 4933119
5	GP1BA	NM_000173.6(GP1BA): c.1620G> A (p.Trp540Ter)	single nucleotide variant	Pathogenic	rs267606849	GRCh37	Chromosome 17, 4837519: 4837519
6	GP1BA	NM_000173.6(GP1BA): c.1620G> A (p.Trp540Ter)	single nucleotide variant	Pathogenic	rs267606849	GRCh38	Chromosome 17, 4934224: 4934224
7	GP9	NM_000174.4(GP9): c.182A> G (p.Asn61Ser)	single nucleotide variant	Pathogenic	rs5030764	GRCh37	Chromosome 3, 128780764: 128780764
8	GP9	NM_000174.4(GP9): c.182A> G (p.Asn61Ser)	single nucleotide variant	Pathogenic	rs5030764	GRCh38	Chromosome 3, 129061921: 129061921
9	GP9	NM_000174.4(GP9): c.110A> G (p.Asp37Gly)	single nucleotide variant	Pathogenic	rs121918036	GRCh37	Chromosome 3, 128780692: 128780692
10	GP9	NM_000174.4(GP9): c.110A> G (p.Asp37Gly)	single nucleotide variant	Pathogenic	rs121918036	GRCh38	Chromosome 3, 129061849: 129061849
11	GP9	NM_000174.4(GP9): c.212T> C (p.Phe71Ser)	single nucleotide variant	Pathogenic	rs121918037	GRCh37	Chromosome 3, 128780794: 128780794
12	GP9	NM_000174.4(GP9): c.212T> C (p.Phe71Ser)	single nucleotide variant	Pathogenic	rs121918037	GRCh38	Chromosome 3, 129061951: 129061951
13	GP9	NM_000174.4(GP9): c.167T> C (p.Leu56Pro)	single nucleotide variant	Pathogenic	rs28933377	GRCh37	Chromosome 3, 128780749: 128780749
14	GP9	NM_000174.4(GP9): c.167T> C (p.Leu56Pro)	single nucleotide variant	Pathogenic	rs28933377	GRCh38	Chromosome 3, 129061906: 129061906
15	GP9	NM_000174.4(GP9): c.70T> C (p.Cys24Arg)	single nucleotide variant	Pathogenic	rs28933378	GRCh37	Chromosome 3, 128780652: 128780652
16	GP9	NM_000174.4(GP9): c.70T> C (p.Cys24Arg)	single nucleotide variant	Pathogenic	rs28933378	GRCh38	Chromosome 3, 129061809: 129061809
17	GP9	NM_000174.4(GP9): c.20T> C (p.Leu7Pro)	single nucleotide variant	Pathogenic	rs121918038	GRCh37	Chromosome 3, 128780602: 128780602
18	GP9	NM_000174.4(GP9): c.20T> C (p.Leu7Pro)	single nucleotide variant	Pathogenic	rs121918038	GRCh38	Chromosome 3, 129061759: 129061759
19	GP1BB	NM_000407.4(GP1BB): c.338A> G (p.Tyr113Cys)	single nucleotide variant	Pathogenic	rs121909750	GRCh37	Chromosome 22, 19711704: 19711704
20	GP1BB	NM_000407.4(GP1BB): c.338A> G (p.Tyr113Cys)	single nucleotide variant	Pathogenic	rs121909750	GRCh38	Chromosome 22, 19724181: 19724181
21	GP1BB	NM_000407.4(GP1BB): c.397G> C (p.Ala133Pro)	single nucleotide variant	Pathogenic	rs121909751	GRCh37	Chromosome 22, 19711763: 19711763
22	GP1BB	NM_000407.4(GP1BB): c.397G> C (p.Ala133Pro)	single nucleotide variant	Pathogenic	rs121909751	GRCh38	Chromosome 22, 19724240: 19724240
23	GP1BB	NM_000407.4(GP1BB): c.137G> A (p.Trp46Ter)	single nucleotide variant	Pathogenic	rs121909752	GRCh37	Chromosome 22, 19711503: 19711503
24	GP1BB	NM_000407.4(GP1BB): c.137G> A (p.Trp46Ter)	single nucleotide variant	Pathogenic	rs121909752	GRCh38	Chromosome 22, 19723980: 19723980
25	GP1BB	NM_000407.4(GP1BB): c.-160C> G	single nucleotide variant	Pathogenic	rs730882059	GRCh38	Chromosome 22, 19723410: 19723410
26	GP1BB	NM_000407.4(GP1BB): c.-160C> G	single nucleotide variant	Pathogenic	rs730882059	GRCh37	Chromosome 22, 19710933: 19710933
27	GP1BB	NM_000407.4(GP1BB): c.340C> T (p.Arg114Cys)	single nucleotide variant	Likely pathogenic	rs587783648	GRCh37	Chromosome 22, 19711706: 19711706
28	GP1BB	NM_000407.4(GP1BB): c.340C> T (p.Arg114Cys)	single nucleotide variant	Likely pathogenic	rs587783648	GRCh38	Chromosome 22, 19724183: 19724183
29	GP9	NM_000174.4(GP9): c.466G> A (p.Ala156Thr)	single nucleotide variant	Benign	rs3796130	GRCh37	Chromosome 3, 128781048: 128781048
30	GP9	NM_000174.4(GP9): c.466G> A (p.Ala156Thr)	single nucleotide variant	Benign	rs3796130	GRCh38	Chromosome 3, 129062205: 129062205
31	GP9	NM_000174.4(GP9): c.132G> A (p.Thr44=)	single nucleotide variant	Benign/Likely benign	rs6069	GRCh37	Chromosome 3, 128780714: 128780714
32	GP9	NM_000174.4(GP9): c.132G> A (p.Thr44=)	single nucleotide variant	Benign/Likely benign	rs6069	GRCh38	Chromosome 3, 129061871: 129061871
33	GP9	NM_000174.4(GP9): c.*7C> T	single nucleotide variant	Likely benign	rs115005114	GRCh38	Chromosome 3, 129062280: 129062280
34	GP9	NM_000174.4(GP9): c.*7C> T	single nucleotide variant	Likely benign	rs115005114	GRCh37	Chromosome 3, 128781123: 128781123
35	GP9	NM_000174.4(GP9): c.-78C> A	single nucleotide variant	Uncertain significance	rs886057960	GRCh38	Chromosome 3, 129061554: 129061554
36	GP9	NM_000174.4(GP9): c.-78C> A	single nucleotide variant	Uncertain significance	rs886057960	GRCh37	Chromosome 3, 128780397: 128780397
37	GP9	NM_000174.4(GP9): c.-16G> T	single nucleotide variant	Uncertain significance	rs886057963	GRCh38	Chromosome 3, 129061616: 129061616
38	GP9	NM_000174.4(GP9): c.-16G> T	single nucleotide variant	Uncertain significance	rs886057963	GRCh37	Chromosome 3, 128780459: 128780459
39	GP9	NM_000174.4(GP9): c.438G> A (p.Pro146=)	single nucleotide variant	Uncertain significance	rs767278544	GRCh38	Chromosome 3, 129062177: 129062177
40	GP9	NM_000174.4(GP9): c.438G> A (p.Pro146=)	single nucleotide variant	Uncertain significance	rs767278544	GRCh37	Chromosome 3, 128781020: 128781020
41	GP9	NM_000174.4(GP9): c.533G> A (p.Ter178=)	single nucleotide variant	Uncertain significance	rs566144272	GRCh38	Chromosome 3, 129062272: 129062272
42	GP9	NM_000174.4(GP9): c.533G> A (p.Ter178=)	single nucleotide variant	Uncertain significance	rs566144272	GRCh37	Chromosome 3, 128781115: 128781115
43	GP9	NM_000174.4(GP9): c.*38C> T	single nucleotide variant	Uncertain significance	rs774275281	GRCh38	Chromosome 3, 129062311: 129062311
44	GP9	NM_000174.4(GP9): c.*38C> T	single nucleotide variant	Uncertain significance	rs774275281	GRCh37	Chromosome 3, 128781154: 128781154
45	GP9	NM_000174.4(GP9): c.-128C> T	single nucleotide variant	Uncertain significance	rs554290942	GRCh37	Chromosome 3, 128780347: 128780347
46	GP9	NM_000174.4(GP9): c.-128C> T	single nucleotide variant	Uncertain significance	rs554290942	GRCh38	Chromosome 3, 129061504: 129061504
47	GP9	NM_000174.4(GP9): c.-39G> A	single nucleotide variant	Uncertain significance	rs886057961	GRCh38	Chromosome 3, 129061593: 129061593
48	GP9	NM_000174.4(GP9): c.-39G> A	single nucleotide variant	Uncertain significance	rs886057961	GRCh37	Chromosome 3, 128780436: 128780436
49	GP9	NM_000174.4(GP9): c.368C> T (p.Pro123Leu)	single nucleotide variant	Uncertain significance	rs202229101	GRCh38	Chromosome 3, 129062107: 129062107
50	GP9	NM_000174.4(GP9): c.368C> T (p.Pro123Leu)	single nucleotide variant	Uncertain significance	rs202229101	GRCh37	Chromosome 3, 128780950: 128780950

Sources

Expression for Bernard-Soulier Syndrome

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

Sources

Pathways for Bernard-Soulier Syndrome

Pathways related to Bernard-Soulier Syndrome according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	ECM-receptor interaction	hsa04512
2	Hematopoietic cell lineage	hsa04640

Pathways related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

(show all 39)

#	Super pathways	Score	Top Affiliating Genes
1	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.43	F2 F2R ITGA2 ITGA2B ITGB3 JUN
2	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.28	F2 F2R ITGA2 ITGA2B ITGB3 JUN
3	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.26	CD9 F2 F2R F8 GP1BA GP1BB
4	Actin Nucleation by ARP-WASP Complex ⁶⁴ Show member pathways Actin Nucleation and Branching ⁶⁴ CDC42 Pathway ⁶⁴ RhoA Pathway ⁶⁴	12.88	ITGA2 ITGA2B ITGB3 JUN MYH9
5	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.88	F2R ITGA2 ITGA2B ITGB3 VWF
6	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.81	ITGA2 ITGA2B ITGB3 JUN MYH9
7	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.8	F2 F2R ITGA2 ITGA2B ITGB3 JUN
8	Focal Adhesion ¹ ³⁷ Show member pathways HGF Pathway ⁶⁴ Integrin-mediated Cell Adhesion ¹	12.79	ITGA2 ITGA2B ITGB3 JUN VWF
9	Regulation of actin cytoskeleton ¹ ³⁷	12.55	F2 F2R ITGA2 ITGA2B ITGB3 MYH9
10	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.53	ITGA2 ITGB3 JUN MYH9
11	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ¹	12.29	ITGA2 ITGA2B ITGB3 JUN THPO
12	Formation of Fibrin Clot (Clotting Cascade) ⁶⁶ Show member pathways Blood Clotting Cascade ¹ Blood Coagulation Signaling Pathways ⁶⁵ Common Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Prothrombin Activation Pathway ⁶⁴ Intrinsic Pathway of Fibrin Clot Formation ⁶⁶	12.24	F2 F2R F8 GP1BA GP1BB GP5
13	ECM-receptor interaction ³⁷ Show member pathways Integrin cell surface interactions ⁶⁶	12.18	GP1BA GP1BB GP5 GP9 ITGA2 ITGA2B
14	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²² Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²²	12.14	F2 F2R ITGA2 ITGA2B ITGB3 JUN
15	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	12.02	GP1BA GP5 ITGA2 ITGA2B ITGB3 THPO
16	Fluid shear stress and atherosclerosis ³⁷	11.99	ITGA2B ITGB3 JUN
17	Oncogenic MAPK signaling ⁶⁶ Show member pathways Signaling by BRAF and RAF fusions ⁶⁶	11.97	ITGA2B ITGB3 VWF
18	Complement and coagulation cascades ¹ ³⁷	11.97	F2 F2R F8 VWF
19	TGF-beta Signaling Pathway (WikiPathways) ¹	11.96	ITGA2 ITGB3 JUN
20	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶	11.93	ITGA2 ITGA2B ITGB3
21	Hematopoietic cell lineage ³⁷	11.9	CD9 GP1BA GP1BB GP5 GP9 ITGA2
22	Reelin Pathway (Cajal-Retzius cells) ⁶⁴	11.84	ITGA2 ITGA2B ITGB3 JUN
23	Integrin alphaIIb beta3 signaling ⁶⁶ Show member pathways GRB2-SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.8	F2 GP1BA GP1BB GP5 GP9 ITGA2B
24	Phagocytosis of Microbes ⁶⁴	11.72	ITGA2 ITGA2B ITGB3
25	Platelet activation ³⁷	11.7	F2R GP1BA GP1BB GP5 GP9 ITGA2
26	G-protein signaling_RhoA regulation pathway ²²	11.63	ITGA2 ITGA2B ITGB3 THPO
27	G-protein signaling_Regulation of RAC1 activity ²²	11.53	ITGA2 ITGA2B ITGB3 JUN
28	ECM proteoglycans ⁶⁶	11.52	ITGA2 ITGA2B ITGB3
29	Cytoskeleton remodeling_RalA regulation pathway ²²	11.42	ITGA2 ITGA2B ITGB3 MYH9
30	Hematopoietic Stem Cell Differentiation ¹	11.42	GP9 ITGA2B ITGB3
31	G-protein signaling_Cross-talk between Ras-family GTPases ²²	11.29	ITGA2 ITGA2B ITGB3 JUN
32	Ephrin B reverse signaling ¹	11.11	ITGA2B ITGB3
33	IL1 and megakaryocytes in obesity ¹	11.07	F2 F2R
34	Signal transduction by L1 ⁶⁶	10.99	ITGA2B ITGB3
35	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶¹	10.98	F2 F2R GP1BB GP5 GP9 ITGA2
36	G-protein signaling_Rap2B regulation pathway ²²	10.91	ITGA2 ITGA2B ITGB3 JUN THPO
37	Platelet Adhesion to exposed collagen ⁶⁶	10.91	GP1BA GP1BB GP5 GP9 ITGA2 VWF
38	GP1b-IX-V activation signalling ⁶⁶	10.85	GP1BA GP1BB GP5 GP9 VWF
39	MFAP5-mediated ovarian cancer cell motility and invasiveness ¹	10.71	ITGB3 JUN

Sources

GO Terms for Bernard-Soulier Syndrome

Cellular components related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of plasma membrane	GO:0005887	9.91	CD9 F2R GP1BA GP1BB GP5 GP9
2	external side of plasma membrane	GO:0009897	9.73	CD9 F2 ITGA2 ITGA2B
3	focal adhesion	GO:0005925	9.72	CD9 ITGA2 ITGA2B ITGB3 MYH9
4	cell surface	GO:0009986	9.63	CD9 F2R GP1BA ITGA2 ITGA2B ITGB3
5	integrin complex	GO:0008305	9.13	ITGA2 ITGA2B ITGB3
6	platelet alpha granule membrane	GO:0031092	8.8	CD9 ITGA2B ITGB3
7	plasma membrane	GO:0005886	10.03	CD9 F2 F2R F8 GP1BA GP1BB
8	extracellular exosome	GO:0070062	10.01	CD9 F2 GP1BA GP5 ITGA2B ITGB3

Biological processes related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

(show all 25)

#	Name	GO ID	Score	Top Affiliating Genes
1	blood coagulation	GO:0007596	9.96	F2 F2R F8 GP1BA GP1BB GP5
2	cell surface receptor signaling pathway	GO:0007166	9.85	CD9 F2 GP1BA GP1BB
3	platelet activation	GO:0030168	9.85	CD9 F2 F2R F8 GP1BA GP1BB
4	extracellular matrix organization	GO:0030198	9.81	ITGA2 ITGA2B ITGB3 VWF
5	integrin-mediated signaling pathway	GO:0007229	9.78	ITGA2 ITGA2B ITGB3 MYH9
6	platelet degranulation	GO:0002576	9.77	CD9 F8 ITGA2B ITGB3 VWF
7	cell-matrix adhesion	GO:0007160	9.73	ITGA2 ITGA2B ITGB3
8	platelet aggregation	GO:0070527	9.71	GP1BA ITGA2B ITGB3 MYH9
9	response to wounding	GO:0009611	9.7	F2 F2R VWF
10	positive regulation of collagen biosynthetic process	GO:0032967	9.67	F2 F2R ITGA2
11	cell-substrate adhesion	GO:0031589	9.63	ITGA2 ITGB3 VWF
12	positive regulation of JAK-STAT cascade	GO:0046427	9.62	F2 F2R
13	cell adhesion mediated by integrin	GO:0033627	9.62	ITGA2 ITGB3
14	fibrinolysis	GO:0042730	9.61	F2 GP1BA
15	positive regulation of smooth muscle contraction	GO:0045987	9.61	F2R ITGA2
16	regulation of blood coagulation	GO:0030193	9.61	F2 F2R GP1BA
17	monocyte differentiation	GO:0030224	9.6	JUN MYH9
18	eyelid development in camera-type eye	GO:0061029	9.59	JUN TFAP2A
19	mesodermal cell differentiation	GO:0048333	9.58	ITGA2 ITGB3
20	positive regulation of blood coagulation	GO:0030194	9.58	F2 F2R
21	positive regulation of leukocyte migration	GO:0002687	9.57	ITGA2 ITGA2B
22	hemostasis	GO:0007599	9.56	F2 F2R F8 GP1BA GP1BB GP5
23	thrombin-activated receptor signaling pathway	GO:0070493	9.54	F2R GP1BA
24	blood coagulation, intrinsic pathway	GO:0007597	9.17	F2 F8 GP1BA GP1BB GP5 GP9
25	cell adhesion	GO:0007155	10.02	CD9 GP1BA GP1BB GP5 GP9 ITGA2

Molecular functions related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000982	9.32	JUN TFAP2A
2	thrombin-activated receptor activity	GO:0015057	9.26	F2R GP1BA
3	integrin binding	GO:0005178	9.02	CD9 ITGA2 ITGB3 MYH9 VWF
4	fibrinogen binding	GO:0070051	8.96	ITGA2B ITGB3
5	protein binding	GO:0005515	10.03	CD9 F2 F2R F8 GP1BA GP1BB

Sources

Sources for Bernard-Soulier Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

¹⁰ dbSNP

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Bernard-Soulier Syndrome (BSS)

Aliases & Classifications for Bernard-Soulier Syndrome

MalaCards integrated aliases for Bernard-Soulier Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bernard-Soulier Syndrome

Related Diseases for Bernard-Soulier Syndrome

Diseases in the Bernard-Soulier Syndrome family:

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

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

Symptoms & Phenotypes for Bernard-Soulier Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Bernard-Soulier Syndrome:

MGI Mouse Phenotypes related to Bernard-Soulier Syndrome:

Drugs & Therapeutics for Bernard-Soulier Syndrome

Cochrane evidence based reviews: bernard-soulier syndrome

Genetic Tests for Bernard-Soulier Syndrome

Genetic tests related to Bernard-Soulier Syndrome:

Anatomical Context for Bernard-Soulier Syndrome

MalaCards organs/tissues related to Bernard-Soulier Syndrome:

Publications for Bernard-Soulier Syndrome

Articles related to Bernard-Soulier Syndrome:

Genes for Bernard-Soulier Syndrome

Genes related to Bernard-Soulier Syndrome (3 elite genes):

Variations for Bernard-Soulier Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bernard-Soulier Syndrome:

ClinVar genetic disease variations for Bernard-Soulier Syndrome:

Expression for Bernard-Soulier Syndrome

Pathways for Bernard-Soulier Syndrome

Pathways related to Bernard-Soulier Syndrome according to KEGG:

Pathways related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

GO Terms for Bernard-Soulier Syndrome

Cellular components related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

Sources for Bernard-Soulier Syndrome