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

BSS MCID: BRN019 MIFTS: 60	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 ⁵⁸ ¹² ⁵⁴ ²⁶ ⁶⁰ ⁷⁶ ³⁸ ⁵⁶ ⁴⁵ ¹⁵ ⁷⁴

Giant Platelet Syndrome ¹² ⁷⁷ ⁵⁴ ²⁶ ⁶⁰

Von Willebrand Factor Receptor Deficiency ⁵⁸ ⁵⁴ ²⁶ ⁷⁶

Bss ⁵⁸ ⁵⁴ ²⁶ ⁷⁶

Deficiency of Platelet Glycoprotein 1b ⁵⁴ ²⁶ ⁷⁴

Platelet Glycoprotein Ib Deficiency ⁵⁸ ²⁶ ⁷⁶

Bernard-Soulier Syndrome, Type A1 ⁵⁸ ¹³ ⁶

Bernard-Soulier Syndrome, Type B ⁵⁸ ³⁰ ⁶

Bernard-Soulier Syndrome Type C ⁷⁶ ³⁰ ⁶

Bernard Soulier Syndrome ¹² ³⁰ ⁶

Bdplt1 ⁵⁸ ²⁶ ⁷⁶

Macrothrombocytopenia, Familial Bernard-Soulier Type ⁵⁴ ²⁶

Glycoprotein Ib, Platelet, Deficiency of ⁵⁸ ²⁶

Hemorrhagiparous Thrombocytic Dystrophy ⁵⁴ ⁶⁰

Bleeding Disorder, Platelet-Type, 1 ⁵⁸ ²⁶

Giant Platelet Disease ⁵⁴ ⁷⁶

Macrothrombocytopenia, Familial, Bernard-Soulier Type ⁶

Bleeding Disorder, Platelet-Type, 1; Bdplt1 ⁵⁸

Hemorrhagioparous Thrombocytic Dystrophy ²⁶

Hemorrhagic Dystrophic Thrombocytopenia ¹²

Platelet Glycoprotein 1b, Deficiency of ⁵⁴

Giant Platelet Disorder, Isolated ⁵⁸

Bleeding Disorder Platelet-Type 1 ⁷⁶

Bernard-Soulier Syndrome, Type C ⁵⁸

Bernard-Soulier Syndrome Type A1 ⁷⁶

Bernard-Soulier Syndrome Type B ⁷⁶

Bernard - Soulier Thrombopathy ¹²

Thrombopathy, Bernard-Soulier ¹²

Syndrome, Bernard-Soulier ⁴¹

Gpd ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

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: ³⁵

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: ⁶⁰

Rare haematological diseases

External Ids:

Disease Ontology ¹² DOID:2217

OMIM ⁵⁸ 231200

KEGG ³⁸ H00224

MeSH ⁴⁵ D001606

NCIt ⁵¹ C84595

SNOMED-CT ⁶⁹ 54569005

MESH via Orphanet ⁴⁶ D001606

ICD10 via Orphanet ³⁵ D69.1

UMLS via Orphanet ⁷⁵ C0005129

Orphanet ⁶⁰ ORPHA274

MedGen ⁴³ C0005129 C1856447 C1856448 more

UMLS ⁷⁴ C0005129 C2713537

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Summaries for Bernard-Soulier Syndrome

Genetics Home Reference : ²⁶ 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, myeloid and kidney, and related phenotypes are impaired ristocetin-induced platelet aggregation and giant platelets

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 : ⁵⁴ 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 : ⁵⁸ 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 : ⁷⁶ Bernard-Soulier syndrome: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.

Wikipedia : ⁷⁷ 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 101)

#	Related Disease	Score	Top Affiliating Genes
1	von willebrand's disease	31.0	F2 F8 GP1BA VWF
2	thrombasthenia	30.7	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	29.9	F2 GP1BB ITGA2B ITGB3 THPO VWF
7	thrombocytopenia	29.6	GP1BA GP1BB GP9 ITGA2 ITGA2B ITGB3
8	thrombocytopenia due to platelet alloimmunization	29.4	GP9 ITGA2 ITGA2B ITGB3 MYH9 THPO
9	von willebrand disease, type 2	28.9	F8 GP1BA ITGA2 ITGA2B ITGB3 VWF
10	myocardial infarction	28.7	F2 F2R F8 GP1BA ITGA2 ITGA2B
11	glanzmann thrombasthenia	28.7	CD9 F2 F2R F8 GP1BA GP9
12	blood platelet disease	27.7	F2 F2R F8 GP1BA GP1BB GP5
13	bernard-soulier syndrome, type a2, autosomal dominant	13.0
14	medich giant platelet syndrome	12.4
15	barber-say syndrome	11.8
16	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	11.7
17	blood group, gerbich system	11.5
18	camptocormism	11.5
19	brooke-spiegler syndrome	11.4
20	brown-sequard syndrome	11.3
21	bleeding disorder, platelet-type, 17	11.1
22	bleeding disorder, platelet-type, 21	11.1
23	angiodysplasia	10.6
24	glyceraldehyde-3-phosphate dehydrogenase deficiency	10.4
25	leukemia, acute myeloid	10.4
26	hematopoietic stem cell transplantation	10.4
27	hepatitis	10.4
28	leukemia	10.4
29	myeloid leukemia	10.4
30	bronchitis	10.4
31	myh-9 related disease	10.3	GP1BA MYH9
32	fainting	10.3	F8 VWF
33	qualitative platelet defect	10.3	F2 VWF
34	neutrophil actin dysfunction	10.3
35	cerebral arteritis	10.3	F8 VWF
36	active peptic ulcer disease	10.3	F2 VWF
37	bleeding disorder, platelet-type, 16	10.3	ITGA2B ITGB3
38	sudden sensorineural hearing loss	10.3	F2 ITGB3
39	breast cancer	10.3
40	noonan syndrome 1	10.3
41	urticaria, aquagenic	10.3
42	factor xii deficiency	10.3
43	factor xi deficiency	10.3
44	prekallikrein deficiency	10.3
45	thrombotic thrombocytopenic purpura	10.3
46	urticaria	10.3
47	hepatitis c	10.3
48	gaucher's disease	10.3
49	pharyngitis	10.3
50	hermansky-pudlak syndrome	10.3

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

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Symptoms & Phenotypes for Bernard-Soulier Syndrome

Human phenotypes related to Bernard-Soulier Syndrome:

⁶⁰ ³³ (show all 26)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	impaired ristocetin-induced platelet aggregation ⁶⁰ ³³	obligate (100%)	Obligate (100%)	HP:0011871
2	giant platelets ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001902
3	decreased platelet glycoprotein ib-ix-v ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0011879
4	macrothrombocytopenia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0040185
5	spontaneous hematomas ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0007420
6	petechiae ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000967
7	menorrhagia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000132
8	spontaneous, recurrent epistaxis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0004406
9	prolonged bleeding after dental extraction ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0006298
10	bruising susceptibility ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000978
11	gingival bleeding ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000225
12	hematemesis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002248
13	prolonged bleeding after surgery ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0004846
14	macroscopic hematuria ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0012587
15	abnormal megakaryocyte morphology ³³	occasional (7.5%)		HP:0012143
16	seizures ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0001250
17	migraine ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0002076
18	asthma ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0002099
19	partially duplicated kidney ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0008738
20	gastrointestinal hemorrhage ⁶⁰ ³³		Frequent (79-30%)	HP:0002239
21	abnormal bleeding ⁶⁰		Very frequent (99-80%)
22	thrombocytopenia ³³			HP:0001873
23	purpura ³³			HP:0000979
24	epistaxis ³³			HP:0000421
25	prolonged bleeding time ³³			HP:0003010
26	abnormality of cells of the megakaryocyte lineage ⁶⁰		Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

MGI Mouse Phenotypes related to Bernard-Soulier Syndrome:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	10.03	CD9 F2 F2R F8 GP1BA GP1BB
2	cellular	MP:0005384	10.02	CD9 F2R GP1BA ITGA2 ITGA2B ITGB3
3	cardiovascular system	MP:0005385	9.97	F2 F2R ITGA2B ITGB3 MYH9 NEU1
4	homeostasis/metabolism	MP:0005376	9.77	F2 F2R F8 GP1BA GP1BB GP5
5	digestive/alimentary	MP:0005381	9.73	F2 F2R ITGA2B ITGB3 TFAP2A VWF
6	immune system	MP:0005387	9.36	CD9 F2 F2R F8 ITGA2B ITGB3

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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 ³⁰
2	Bernard-Soulier Syndrome Type C ³⁰
3	Bernard Soulier Syndrome ³⁰	GP1BA GP1BB GP9

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Anatomical Context for Bernard-Soulier Syndrome

MalaCards organs/tissues related to Bernard-Soulier Syndrome:

⁴²

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

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Publications for Bernard-Soulier Syndrome

Articles related to Bernard-Soulier Syndrome:

(show top 50) (show all 261)

#	Title	Authors	Year
1	Does Bernard-Soulier syndrome protect against thrombotic thrombocytopenic purpura? ( 28653757 )	Jajosky R...Savage N	2018
2	Bernard-Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA. ( 29119711 )	B?ckelmann D...Zieger B	2018
3	Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations? ( 29119855 )	Boisseau P...Fouassier M	2018
4	A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report. ( 29636940 )	Alsahafi IK...Alahmadi GB	2018
5	How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. ( 30117143 )	Grainger JD...Will AM	2018
6	A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. ( 30332551 )	Trizuljak J...Doubek M	2018
7	Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype. ( 28131619 )	Boeckelmann D...Zieger B	2017
8	Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene. ( 28395735 )	Lopez-Onieva L...Real PJ	2017
9	A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations. ( 28765788 )	Kanda K...Ishigami T	2017
10	Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency. ( 29043243 )	Shahverdi E...Ahmadinejad M	2017
11	A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia. ( 26849716 )	Ali S...Ghosh K	2017
12	Corrigendum to "Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene" [Stem Cell Res. 16/3 (2016) 692-695]. ( 27596517 )	Lopez-Onieva L...Real PJ	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 )	Lopez-Onieva L...Real PJ	2016
14	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 PJ	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	Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. ( 25370924 )	Bragadottir G...Onundarson PT	2015
17	Primigravida with Bernard-Soulier Syndrome: a case report. ( 25928053 )	Mac?do MB...Brito JA	2015
18	A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome. ( 26044173 )	Shlebak A...Lucas G	2015
19	Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation. ( 26133172 )	Li J...Ruan C	2015
20	A diagnostic dilemma: variant Bernard-Soulier syndrome, a difficult clinical and genetic diagnosis. ( 26226975 )	Okoli S...Cutler JA	2015
21	Dental Extractions Management in Bernard-Soulier Syndrome. ( 26267566 )	Ruiz-Roca JA...Rodr?guez-Lozano FJ	2015
22	Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome. ( 26275786 )	Qiao J...Andrews RK	2015
23	Bernard-Soulier syndrome: A challenge for anesthetist in an emergency surgery. ( 26330734 )	Ul Haq MI...Nazir M	2015
24	Complementary effect of fibrinogen and rFVIIa on clotting ex vivo in Bernard-Soulier syndrome and combined use during three deliveries. ( 23909788 )	Palsson R...Onundarson PT	2014
25	Novel genetic abnormalities in Bernard-Soulier syndrome in India. ( 23995613 )	Ali S...Shetty S	2014
26	Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation. ( 24051937 )	Sato T...Kusuhara K	2014
27	Endodontic management of a patient with Bernard-Soulier syndrome. ( 24778520 )	Johns DA...Vidyanath S	2014
28	Spectrum of the mutations in Bernard-Soulier syndrome. ( 24934643 )	Savoia A...Lanza F	2014
29	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
30	Perioperative management of tonsilloadenoidectomy and circumcision of a patient with Bernard-Soulier syndrome: case report. ( 25068867 )	Balci YI...Herek ?	2014
31	Bernard-Soulier Syndrome (BSS) & tuberculosis: A case report. ( 26786628 )	Hasanzad M	2014
32	Total Hip Arthroplasty in A Young Patient with Bernard-Soulier Syndrome. ( 27298957 )	Bisland S...Smith F	2014
33	A family with Bolzano-type Bernard-Soulier syndrome carries a benign A1939T MYH9 mutation. ( 22372535 )	Sarangi SN...Chan EL	2013
34	Molecular pathology of Bernard-Soulier syndrome in Indian patients. ( 23402648 )	Ali S...Shetty S	2013
35	Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα. ( 23414566 )	Yamamoto N...Arai M	2013
36	Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion. ( 23566026 )	Kunishima S...Saito H	2013
37	Bernard-Soulier syndrome: an update. ( 23929303 )	Andrews RK...Berndt MC	2013
38	Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. ( 24319190 )	Diz-K???kkaya R	2013
39	Bernard Soulier Syndrome associated with acute myeloid leukemia. ( 24326767 )	Adlekha S...Chadha T	2013
40	The Medich giant platelet syndrome: two new cases. ( 22931192 )	Gunning W...White JG	2013
41	Successful perioperative management for a breast cancer patient with Bernard-Soulier syndrome. ( 21104349 )	Okita R...Fujimura K	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 Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. ( 22343686 )	Mahfouz RA...Muwakkit S	2012
44	Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome. ( 22569901 )	Girolami A...Fabris F	2012
45	Intractable gastrointestinal bleeding from angiodysplasia in a patient with Bernard-Soulier syndrome. ( 21085964 )	Ouakaa-Kchaou A...Ghorbel A	2011
46	Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. ( 21173099 )	Savoia A...Noris P	2011
47	Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro. ( 21322749 )	Balduini A...Noris P	2011
48	Bernard-Soulier syndrome. ( 21357716 )	Berndt MC...Andrews RK	2011
49	Molecular basis of Bernard-Soulier syndrome in 27 patients from India. ( 21699652 )	Sumitha E...Srivastava A	2011
50	Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. ( 21800012 )	Bartsch I...Zieger B	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	1722.84	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ 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	1721.36	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ 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	1711.73	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ 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	35.64	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	8000916 8770359 20462086 (more) 7900092 9885217 11858495 7660135 10419888 7855797 7579348
5	GP5	Glycoprotein V Platelet	Protein Coding	34.87	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Summaries (show sections)	2372284 15550031 15477207 (more) 8407908 1730602 8888292 8608228
6	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	34.65	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	8457642
7	MYH9	Myosin Heavy Chain 9	Protein Coding	33.08	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	15477207 14706930 14635206 (more) 15529446
8	F2	Coagulation Factor II, Thrombin	Protein Coding	28.48	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9157600 14717981
9	ITGB3	Integrin Subunit Beta 3	Protein Coding	23.76	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	F8	Coagulation Factor VIII	Protein Coding	22.78	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	CD9	CD9 Molecule	Protein Coding	21.7	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	THPO	Thrombopoietin	Protein Coding	21.41	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	11446655
13	F2R	Coagulation Factor II Thrombin Receptor	Protein Coding	19.58	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	8110787
14	ITGA2	Integrin Subunit Alpha 2	Protein Coding	19.43	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	10097812
15	NEU1	Neuraminidase 1	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:

⁷⁶ (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	rs139463467
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/Likely pathogenic	rs5030764	GRCh37	Chromosome 3, 128780764: 128780764
8	GP9	NM_000174.4(GP9): c.182A> G (p.Asn61Ser)	single nucleotide variant	Pathogenic/Likely 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	GRCh38	Chromosome 3, 129061504: 129061504
46	GP9	NM_000174.4(GP9): c.-128C> T	single nucleotide variant	Uncertain significance	rs554290942	GRCh37	Chromosome 3, 128780347: 128780347
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:

³⁸

#	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 28)

#	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+ ⁶⁷ Show member pathways Disinhibition of SNARE formation ⁶⁷ Hemostasis ⁶⁷ Platelet activation, signaling and aggregation ⁶⁷ Platelet degranulation ⁶⁷	13.26	CD9 F2 F2R F8 GP1BA GP1BB
2	Integrin Pathway ⁶⁵ Show member pathways FAK1 Signaling ⁶⁵ GnRH Signaling ⁶⁵ Inhibition of Angiogenesis by TSP1 ⁶⁵ Transendothelial Migration of Leukocytes ⁶⁵ UPA-UPAR Pathway ⁶⁵	13.25	F2 F2R ITGA2 ITGA2B ITGB3 MYH9
3	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.82	F2R ITGA2 ITGA2B ITGB3 VWF
4	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.76	F2 F2R ITGA2 ITGA2B ITGB3
5	Regulation of actin cytoskeleton ³⁸ ¹	12.54	F2 F2R ITGA2 ITGA2B ITGB3 MYH9
6	Formation of Fibrin Clot (Clotting Cascade) ⁶⁷ Show member pathways Blood Clotting Cascade ¹ Blood Coagulation Signaling Pathways ⁶⁶ Common Pathway of Fibrin Clot Formation ⁶⁷ Extrinsic Pathway of Fibrin Clot Formation ⁶⁷ Extrinsic Prothrombin Activation Pathway ⁶⁵ Intrinsic Pathway of Fibrin Clot Formation ⁶⁷	12.24	F2 F2R F8 GP1BA GP1BB GP5
7	ECM-receptor interaction ³⁸ Show member pathways Integrin cell surface interactions ⁶⁷	12.19	GP1BA GP1BB GP5 GP9 ITGA2 ITGA2B
8	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²³ Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²³	12.09	F2 F2R ITGA2 ITGA2B ITGB3 MYH9
9	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁶	12.02	GP1BA GP5 ITGA2 ITGA2B ITGB3 THPO
10	Complement and coagulation cascades ¹ ³⁸	11.97	F2 F2R F8 VWF
11	Oncogenic MAPK signaling ⁶⁷ Show member pathways Signaling by BRAF and RAF fusions ⁶⁷	11.91	ITGA2B ITGB3 VWF
12	Hematopoietic cell lineage ³⁸	11.9	CD9 GP1BA GP1BB GP5 GP9 ITGA2
13	L1CAM interactions ⁶⁷ Show member pathways CHL1 interactions ⁶⁷ Neurofascin interactions ⁶⁷ NrCAM interactions ⁶⁷	11.86	ITGA2 ITGA2B ITGB3
14	Reelin Pathway (Cajal-Retzius cells) ⁶⁵	11.8	ITGA2 ITGA2B ITGB3
15	Integrin alphaIIb beta3 signaling ⁶⁷ Show member pathways GRB2-SOS provides linkage to MAPK signaling for Integrins ⁶⁷ p130Cas linkage to MAPK signaling for integrins ⁶⁷ Platelet Aggregation (Plug Formation) ⁶⁷	11.8	F2 GP1BA GP1BB GP5 GP9 ITGA2B
16	Platelet activation ³⁸	11.7	F2R GP1BA GP1BB GP5 GP9 ITGA2
17	Phagocytosis of Microbes ⁶⁵	11.67	ITGA2 ITGA2B ITGB3
18	G-protein signaling_RhoA regulation pathway ²³	11.57	ITGA2 ITGA2B ITGB3 THPO
19	ECM proteoglycans ⁶⁷	11.49	ITGA2 ITGA2B ITGB3
20	G-protein signaling_Regulation of RAC1 activity ²³	11.48	ITGA2 ITGA2B ITGB3
21	Cytoskeleton remodeling_RalA regulation pathway ²³	11.39	ITGA2 ITGA2B ITGB3 MYH9
22	Hematopoietic Stem Cell Differentiation ¹	11.39	GP9 ITGA2B ITGB3
23	Ephrin B reverse signaling ¹	11.07	ITGA2B ITGB3
24	IL1 and megakaryocytes in obesity ¹	11.03	F2 F2R
25	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶²	10.98	F2 F2R GP1BB GP5 GP9 ITGA2
26	Signal transduction by L1 ⁶⁷	10.93	ITGA2B ITGB3
27	Platelet Adhesion to exposed collagen ⁶⁷	10.91	GP1BA GP1BB GP5 GP9 ITGA2 VWF
28	GP1b-IX-V activation signalling ⁶⁷	10.85	GP1BA GP1BB GP5 GP9 VWF

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	extracellular exosome	GO:0070062	9.97	CD9 F2 GP1BA GP5 ITGA2B ITGB3
2	integral component of plasma membrane	GO:0005887	9.95	CD9 F2R GP1BA GP1BB GP5 GP9
3	focal adhesion	GO:0005925	9.77	CD9 ITGA2 ITGA2B ITGB3 MYH9
4	plasma membrane	GO:0005886	9.77	CD9 F2 F2R F8 GP1BA GP1BB
5	external side of plasma membrane	GO:0009897	9.73	CD9 F2 ITGA2 ITGA2B
6	cell surface	GO:0009986	9.73	CD9 F2R GP1BA ITGA2 ITGA2B ITGB3
7	integrin complex	GO:0008305	9.33	ITGA2 ITGA2B ITGB3
8	platelet alpha granule membrane	GO:0031092	8.8	CD9 ITGA2B ITGB3

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

(show all 24)

#	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 release of sequestered calcium ion into cytosol	GO:0051281	9.62	F2 F2R
13	positive regulation of JAK-STAT cascade	GO:0046427	9.61	F2 F2R
14	cell adhesion mediated by integrin	GO:0033627	9.61	ITGA2 ITGB3
15	regulation of blood coagulation	GO:0030193	9.61	F2 F2R GP1BA
16	fibrinolysis	GO:0042730	9.6	F2 GP1BA
17	positive regulation of smooth muscle contraction	GO:0045987	9.59	F2R ITGA2
18	mesodermal cell differentiation	GO:0048333	9.58	ITGA2 ITGB3
19	positive regulation of blood coagulation	GO:0030194	9.58	F2 F2R
20	positive regulation of leukocyte migration	GO:0002687	9.57	ITGA2 ITGA2B
21	hemostasis	GO:0007599	9.56	F2 F2R F8 GP1BA GP1BB GP5
22	thrombin-activated receptor signaling pathway	GO:0070493	9.54	F2R GP1BA
23	blood coagulation, intrinsic pathway	GO:0007597	9.17	F2 F8 GP1BA GP1BB GP5 GP9
24	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	thrombin-activated receptor activity	GO:0015057	9.26	F2R GP1BA
2	integrin binding	GO:0005178	9.02	CD9 ITGA2 ITGB3 MYH9 VWF
3	fibrinogen binding	GO:0070051	8.96	ITGA2B ITGB3
4	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

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

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⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Human phenotypes related to Bernard-Soulier Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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