GPS
MCID: GRY002
MIFTS: 55

Gray Platelet Syndrome (GPS) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Gray Platelet Syndrome

Aliases & Descriptions for Gray Platelet Syndrome:

Name: Gray Platelet Syndrome 54 12 50 24 25 56 66 29 13 52 42 69
Platelet Alpha-Granule Deficiency 12 50 24 25 56 66 69
Gps 12 50 25 56 66
Bdplt4 12 24 25 66
Platelet-Type Bleeding Disorder 4 12 24
Grey Platelet Syndrome 25 66
Marked Decrease or Absence of Alpha-Granules and of Platelet-Specific Alpha-Granule Proteins 50
Bleeding Disorder, Platelet-Type, 4 25
Platelet Alpha Granule Deficiency 25
Bleeding Disorder Platelet-Type 4 66
Deficient Alpha Granule Syndrome 25
Alpha Storage Pool Deficiency 56
Platelet Granule Defect 25

Characteristics:

Orphanet epidemiological data:

56
gray platelet syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
gray platelet syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 54 139090
Disease Ontology 12 DOID:0111044
ICD10 33 D69.1
MeSH 42 D055652
Orphanet 56 ORPHA721
MESH via Orphanet 43 D055652
UMLS via Orphanet 70 C0272302
ICD10 via Orphanet 34 D69.1
MedGen 40 C0272302
UMLS 69 C0272302

Summaries for Gray Platelet Syndrome

OMIM : 54 The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency,... (139090) more...

MalaCards based summary : Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to genitopatellar syndrome and glanzmann thrombasthenia, and has symptoms including splenomegaly, thrombocytopenia and epistaxis. An important gene associated with Gray Platelet Syndrome is NBEAL2 (Neurobeachin Like 2), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and NF-kappaB Signaling. The drugs Aldesleukin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, endothelial and bone, and related phenotypes are hematopoietic system and cellular

Disease Ontology : 12 An inherited blood coagulation disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.

Genetics Home Reference : 25 Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding problems are usually mild to moderate, but they have been life-threatening in a few affected individuals.

NIH Rare Diseases : 50 gray platelet syndrome (gps) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. about 60 cases from various populations around the world have been described in the literature to date. gps results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. gps is caused by mutations in the nbeal2 gene and inherited in an autosomal recessive manner.  last updated: 10/3/2011

UniProtKB/Swiss-Prot : 66 Gray platelet syndrome: A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules.

Wikipedia : 71 Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal... more...

Related Diseases for Gray Platelet Syndrome

Diseases related to Gray Platelet Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
id Related Disease Score Top Affiliating Genes
1 genitopatellar syndrome 11.6
2 glanzmann thrombasthenia 11.2
3 bleeding disorder, platelet-type, 11 11.0
4 bernard-soulier syndrome, type c 10.9
5 bleeding disorder, platelet-type, 17 10.9
6 vcl-related dilated cardiomyopathy 10.2 SELP VWF
7 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 10.2 CD40LG SELP
8 alpha-2-macroglobulin deficiency 10.2 GP6 VWF
9 atrophic nonflaccid tympanic membrane 10.1 GP6 SELP VWF
10 severe nonproliferative diabetic retinopathy 10.1 CD40LG SELP VWF
11 bone development disease 10.1 GP6 SELP VWF
12 colonic benign neoplasm 10.1 CD40LG VWF
13 pyridoxamine 5'-phosphate oxidase deficiency 10.1 GP9 SELP VWF
14 mental depression 10.1 CD40LG GP9 SELP
15 prostatic hypertrophy 10.0 CD36 SELP VWF
16 hemangioma of orbit 10.0 CD36 CD40LG
17 ovarian mesodermal adenosarcoma 10.0 GP5 GP6
18 ocular hyperemia 10.0 CD40LG GP9 SELP VWF
19 akinetic mutism 9.9 CD36 SPARC
20 tracheal disease 9.9 GATA1 GP9 MASTL VWF
21 thrombocytopenia 9.9
22 acute inflammation of lacrimal passage 9.9 GP5 GP6
23 uterine cervix leukoplakia 9.9 GP5 GP6
24 basilar artery insufficiency 9.9 CD36 GATA1 SELP VWF
25 vaginal adenosarcoma 9.8 GP5 GP6
26 myelofibrosis 9.8
27 immunodeficiency 21 9.7 GP5 GP6 GP9 NBEAL2 VWF
28 myeloproliferative neoplasm 9.7 CD40LG GP5 GP9 SELP VWF
29 lymphoproliferative syndrome 9.6
30 meningitis 9.6
31 splenomegaly 9.6
32 endotheliitis 9.6
33 myocardial infarction 9.6
34 autoimmune lymphoproliferative syndrome 9.6
35 acute myocardial infarction 9.6
36 hematopoietic stem cell transplantation 9.6
37 osteogenesis imperfecta, type vii 8.1 CD36 CD40LG CLDN5 GATA1 GFI1B GP5

Graphical network of the top 20 diseases related to Gray Platelet Syndrome:



Diseases related to Gray Platelet Syndrome

Symptoms & Phenotypes for Gray Platelet Syndrome

Symptoms by clinical synopsis from OMIM:

139090

Clinical features from OMIM:

139090

Human phenotypes related to Gray Platelet Syndrome:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 thrombocytopenia 32 HP:0001873
3 epistaxis 32 HP:0000421
4 bruising susceptibility 32 HP:0000978
5 prolonged bleeding time 32 HP:0003010
6 menorrhagia 32 HP:0000132
7 myelofibrosis 32 HP:0011974
8 impaired collagen-induced platelet aggregation 32 HP:0008320
9 reduced von willebrand factor activity 32 HP:0008330
10 impaired thrombin-induced platelet aggregation 32 HP:0011872
11 reduced quantity of von willebrand factor 32 HP:0012147

MGI Mouse Phenotypes related to Gray Platelet Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 CD36 CD40LG GATA1 GFI1B GP6 GP9
2 cellular MP:0005384 10.07 CD36 CD40LG GATA1 GFI1B MASTL MPIG6B
3 homeostasis/metabolism MP:0005376 10.07 GFI1B GP5 GP6 MPIG6B NBEAL2 PLCG2
4 cardiovascular system MP:0005385 10.06 CD36 CD40LG CLDN5 GATA1 GFI1B PLCG2
5 immune system MP:0005387 9.93 CD36 CD40LG GATA1 GFI1B GP6 MPIG6B
6 integument MP:0010771 9.56 CD40LG GATA1 GFI1B GP6 PLCG2 SELP
7 skeleton MP:0005390 9.28 CD36 CD40LG GATA1 MPIG6B NBEAL2 PLCG2

Drugs & Therapeutics for Gray Platelet Syndrome

Drugs for Gray Platelet Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
3
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
4
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
5
Lenograstim Approved Phase 2 135968-09-1
6
Mesna Approved Phase 2 3375-50-6 598
7
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
10
Mycophenolic acid Approved Phase 2 24280-93-1 446541
11
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
12
Vidarabine Approved Phase 2 24356-66-9 32326 21704
13 Adjuvants, Immunologic Phase 2
14 Alkylating Agents Phase 2
15 Analgesics Phase 2
16 Analgesics, Non-Narcotic Phase 2
17 Anti-Bacterial Agents Phase 2
18 Antibiotics, Antitubercular Phase 2
19 Antiemetics Phase 2
20 Antifungal Agents Phase 2
21 Anti-HIV Agents Phase 2
22 Anti-Infective Agents Phase 2
23 Anti-Inflammatory Agents Phase 2
24 Antimetabolites Phase 2
25 Antimetabolites, Antineoplastic Phase 2
26 Antineoplastic Agents, Alkylating Phase 2
27 Antineoplastic Agents, Hormonal Phase 2
28 Anti-Retroviral Agents Phase 2
29 Antirheumatic Agents Phase 2
30 Antiviral Agents Phase 2
31 Autonomic Agents Phase 2
32 Calcineurin Inhibitors Phase 2
33 Dermatologic Agents Phase 2
34 Gastrointestinal Agents Phase 2
35 glucocorticoids Phase 2
36 Hormone Antagonists Phase 2
37 Hormones Phase 2
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
39 Immunosuppressive Agents Phase 2
40 Interleukin-2 Phase 2
41 Methylprednisolone acetate Phase 2
42 Methylprednisolone Hemisuccinate Phase 2
43 Neuroprotective Agents Phase 2
44 Peripheral Nervous System Agents Phase 2
45 Prednisolone acetate Phase 2
46 Prednisolone hemisuccinate Phase 2
47 Prednisolone phosphate Phase 2
48 Protective Agents Phase 2
49 Tin Fluorides Phase 2
50
Serotonin 50-67-9 5202

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase III Randomized Study of SYNSORB Pk in Children With E. Coli-Associated Hemolytic Uremic Syndrome Terminated NCT00004465 Phase 3
2 Donor Umbilical Cord Blood Natural Killer Cells, Aldesleukin and Umbilical Cord Blood Transplant in Patients With Refractory Hematologic Cancers. Terminated NCT00354172 Phase 2
3 Genetic Analysis of Gray Platelet Syndrome Completed NCT00069680
4 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
5 Brainstem and Prematurity Recruiting NCT02669056
6 Registry of Patient With Antithrombotic Agents Admitted to an Emergency Department Recruiting NCT02706080

Search NIH Clinical Center for Gray Platelet Syndrome

Cochrane evidence based reviews: gray platelet syndrome

Genetic Tests for Gray Platelet Syndrome

Genetic tests related to Gray Platelet Syndrome:

id Genetic test Affiliating Genes
1 Gray Platelet Syndrome 29 24 NBEAL2

Anatomical Context for Gray Platelet Syndrome

MalaCards organs/tissues related to Gray Platelet Syndrome:

39
Neutrophil, Endothelial, Bone, Bone Marrow

Publications for Gray Platelet Syndrome

Articles related to Gray Platelet Syndrome:

(show top 50) (show all 66)
id Title Authors Year
1
A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome. ( 28504079 )
2017
2
Gray platelet syndrome: Novel mutations of the NBEAL2 gene. ( 27870194 )
2017
3
Should any Genetic Defect Affecting I+-Granules in Platelets be Classified as Gray Platelet Syndrome? ( 26971401 )
2016
4
Onyx embolization of an intraosseous pseudoaneurysm of the middle meningeal artery in a patient with meningiomatosis, McCune-Albright syndrome, and gray platelet syndrome. ( 26588455 )
2016
5
Corrigendum: Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients. ( 27126656 )
2016
6
Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients. ( 26987485 )
2016
7
Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice. ( 26950939 )
2016
8
Pseudo gray platelet syndrome: the first case report in Korea. ( 26157784 )
2015
9
A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome. ( 26287868 )
2015
10
Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome. ( 25806575 )
2015
11
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. ( 26472737 )
2015
12
Gray Platelet Syndrome: Pro-inflammatory megakaryocytes and I+-granule loss cause myelofibrosis and confer resistance to cancer metastasis in mice. ( 25258341 )
2014
13
GFI1B Mutation Causes Autosomal Dominant Gray Platelet Syndrome. ( 24635673 )
2014
14
A dominant-negative GFI1B mutation in the gray platelet syndrome. ( 24325358 )
2014
15
A case of gray platelet syndrome masked by immune thrombocytopenia at presentation. ( 24577417 )
2014
16
Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice. ( 23863626 )
2013
17
The Nbeal2(-/-) mouse as a model for the gray platelet syndrome. ( 25003009 )
2013
18
Gray platelet syndrome. ( 23427340 )
2013
19
Successful hematopoietic engraftment with gray platelets after allogeneic hematopoietic stem cell transplantation from gray platelet syndrome donor. ( 23358204 )
2013
20
Gray platelet syndrome: macrothrombocytopenia with deficient I+-granules. ( 23193541 )
2012
21
Successful pregnancy and delivery in a woman with gray platelet syndrome. ( 21443042 )
2011
22
Gray platelet syndrome. ( 21800352 )
2011
23
Expanding perfusion across disciplines: the use of thrombelastography technology to reduce risk in an obstetrics patient with Gray Platelet Syndrome--a case study. ( 21227981 )
2011
24
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. ( 21765411 )
2011
25
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. ( 21263149 )
2011
26
Thrombocytopenias due to gray platelet syndrome or THC2 mutations. ( 22102272 )
2011
27
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. ( 21765412 )
2011
28
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. ( 21765413 )
2011
29
The I+-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. ( 20524979 )
2010
30
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. ( 20709904 )
2010
31
Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. ( 18612537 )
2008
32
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. ( 17209061 )
2007
33
Defective platelet responsiveness to thrombin and protease-activated receptors agonists in a novel case of gray platelet syndrome: correlation between the platelet defect and the alpha-granule content in the patient and four relatives. ( 17137471 )
2007
34
The gray platelet syndrome: clinical spectrum of the disease. ( 16442192 )
2007
35
Neutrophil secretory defect in the gray platelet syndrome: a new case. ( 16308182 )
2006
36
Gray Platelet Syndrome in a Somalian family. ( 17127480 )
2006
37
Molecular study of the hematopoietic zinc finger gene in three unrelated families with gray platelet syndrome. ( 16102114 )
2005
38
Neutrophils in the gray platelet syndrome. ( 15370105 )
2004
39
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. ( 15010364 )
2004
40
Gray platelet syndrome presenting as menorrhagia. ( 12627861 )
2003
41
Pseudo gray platelet syndrome in a patient with acute myocardial infarction. ( 12463604 )
2002
42
Newly recognized cellular abnormalities in the gray platelet syndrome. ( 11520786 )
2001
43
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. ( 11708859 )
2001
44
The magic of immersion oil: gray platelet syndrome. ( 9658735 )
1998
45
Platelet alpha granule deficiency associated with decreased P-selectin and selective impairment of thrombin-induced activation in a new patient with gray platelet syndrome (alpha-storage pool deficiency). ( 9042822 )
1997
46
Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. ( 8192152 )
1994
47
Gray platelet syndrome. Dissociation between abnormal sorting in megakaryocyte alpha-granules and normal sorting in Weibel-Palade bodies of endothelial cells. ( 7504696 )
1993
48
Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome. ( 2040691 )
1991
49
Gray platelet syndrome. ( 2763381 )
1989
50
Gray platelet syndrome: relationship between morphological abnormality of the dense tubular system (DTS) and intracellular Ca++ mobilization in the platelet. ( 2629468 )
1989

Variations for Gray Platelet Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Gray Platelet Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 NBEAL2 p.Leu388Pro VAR_066976 rs387907113
2 NBEAL2 p.Glu643Val VAR_066977 rs387907114
3 NBEAL2 p.Trp677Arg VAR_066978
4 NBEAL2 p.Glu1833Lys VAR_066980
5 NBEAL2 p.Arg1839Cys VAR_066981 rs750160418
6 NBEAL2 p.Pro2100Leu VAR_066982 rs387907115
7 NBEAL2 p.His2263Tyr VAR_066983
8 NBEAL2 p.Ser2269Leu VAR_066984 rs749896920

ClinVar genetic disease variations for Gray Platelet Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NBEAL2 NM_015175.2(NBEAL2): c.2701C> T (p.Arg901Ter) single nucleotide variant Pathogenic rs387907112 GRCh37 Chromosome 3, 47038800: 47038800
2 NBEAL2 NM_015175.2(NBEAL2): c.881C> G (p.Ser294Ter) single nucleotide variant Pathogenic rs372277612 GRCh37 Chromosome 3, 47033134: 47033134
3 NBEAL2 NM_015175.2(NBEAL2): c.1163T> C (p.Leu388Pro) single nucleotide variant Pathogenic rs387907113 GRCh37 Chromosome 3, 47035476: 47035476
4 NBEAL2 NM_015175.2(NBEAL2): c.1928A> T (p.Glu643Val) single nucleotide variant Pathogenic rs387907114 GRCh37 Chromosome 3, 47037233: 47037233
5 NBEAL2 NM_015175.2(NBEAL2): c.6299C> T (p.Pro2100Leu) single nucleotide variant Pathogenic rs387907115 GRCh37 Chromosome 3, 47046466: 47046466
6 NBEAL2 NM_015175.2(NBEAL2): c.1823G> A (p.Trp608Ter) single nucleotide variant Pathogenic rs794726682 GRCh38 Chromosome 3, 46995558: 46995558
7 NBEAL2 NM_015175.2(NBEAL2): c.5413dupG (p.Ala1805Glyfs) duplication Pathogenic rs794726683 GRCh37 Chromosome 3, 47044246: 47044246

Expression for Gray Platelet Syndrome

Search GEO for disease gene expression data for Gray Platelet Syndrome.

Pathways for Gray Platelet Syndrome

Pathways related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 CD36 GATA1 GP5 GP6 GP9 MPIG6B
2 12.29 CD40LG GATA1 GFI1B PLCG2
3
Show member pathways
11.94 CD36 GP5 GP6 GP9 VWF
4
Show member pathways
11.91 GP5 GP6 GP9 VWF
5
Show member pathways
11.88 GP6 MPIG6B PLCG2
6 11.85 CD40LG CLDN5 SELP
7 11.74 GP5 GP6 GP9 PLCG2 VWF
8
Show member pathways
11.64 GP5 GP9 VWF
9 11.62 CD36 GP5 GP9
10 11.3 CD36 CD40LG SELP
11 10.81 CD36 GP5 GP6 GP9 PLCG2 VWF
12 10.5 GP5 GP9 VWF
13 10.37 GP5 GP6 GP9 VWF

GO Terms for Gray Platelet Syndrome

Cellular components related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 CD36 CD40LG CLDN5 GP5 GP6 GP9
2 integral component of plasma membrane GO:0005887 9.8 CD36 CD40LG GP5 GP6 GP9 SELP
3 cell surface GO:0009986 9.65 CD36 CD40LG GP6 SPARC TREML1
4 platelet alpha granule membrane GO:0031092 9.13 CD36 SELP SPARC
5 platelet alpha granule GO:0031091 8.8 SPARC TREML1 VWF

Biological processes related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.83 CD36 GP5 GP9 SELP VWF
2 platelet degranulation GO:0002576 9.67 CD36 SELP SPARC VWF
3 platelet formation GO:0030220 9.5 GATA1 MPIG6B NBEAL2
4 blood coagulation GO:0007596 9.5 CD36 GATA1 GP5 GP6 GP9 MPIG6B
5 leukocyte cell-cell adhesion GO:0007159 9.48 CD40LG SELP
6 positive regulation of interleukin-12 production GO:0032735 9.46 CD36 CD40LG
7 hemostasis GO:0007599 9.46 GP5 GP6 GP9 VWF
8 blood coagulation, intrinsic pathway GO:0007597 9.43 GP5 GP9 VWF
9 megakaryocyte differentiation GO:0030219 9.4 GATA1 MPIG6B
10 platelet activation GO:0030168 9.23 CD40LG GP5 GP6 GP9 MPIG6B PLCG2

Molecular functions related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.8 GP6 SPARC VWF

Sources for Gray Platelet Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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