MCID: STR089
MIFTS: 46

Storage Pool Platelet Disease

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Storage Pool Platelet Disease

MalaCards integrated aliases for Storage Pool Platelet Disease:

Name: Storage Pool Platelet Disease 57 20
Platelet Storage Pool Deficiency 12 20 54 44 15 17 70
Combined Alpha-Delta Platelet Storage Pool Deficiency 58
Platelet Dense Granule Deficiency 12
Storage Pool Disease of Platelets 6
Platelet Storage Pool Diseases 20
Alpha Delta Granule Deficiency 58
Alpha Dense Granule Deficiency 58
Platelet Storage Pool Defect 12
Dense Body Defect 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome and chediak-hygashi syndrome
aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia


HPO:

31
storage pool platelet disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2223
OMIM® 57 185050
MeSH 44 D010981
SNOMED-CT 67 234474009
ICD10 via Orphanet 33 D69.1
Orphanet 58 ORPHA734
MedGen 41 C0032197
UMLS 70 C0032197

Summaries for Storage Pool Platelet Disease

GARD : 20 Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.

MalaCards based summary : Storage Pool Platelet Disease, also known as platelet storage pool deficiency, is related to hermansky-pudlak syndrome 5 and hermansky-pudlak syndrome 6. An important gene associated with Storage Pool Platelet Disease is GFI1B (Growth Factor Independent 1B Transcriptional Repressor), and among its related pathways/superpathways are Vesicle-mediated transport and Clathrin derived vesicle budding. The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and eye, and related phenotypes are myelodysplasia and acute leukemia

Wikipedia : 73 Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in... more...

More information from OMIM: 185050

Related Diseases for Storage Pool Platelet Disease

Diseases related to Storage Pool Platelet Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 5 32.3 HPS6 HPS5 BLOC1S1
2 hermansky-pudlak syndrome 6 32.3 HPS6 HPS5
3 hermansky-pudlak syndrome 3 32.2 HPS6 HPS5 HPS3
4 hermansky-pudlak syndrome 2 32.2 HPS3 CD63 AP3B1
5 hermansky-pudlak syndrome 9 32.1 SNAPIN HPS4 BLOC1S6
6 hermansky-pudlak syndrome 1 30.5 HPS6 HPS5 HPS4 HPS3 DTNBP1 BLOC1S6
7 chediak-higashi syndrome 30.0 CD63 BLOC1S1 AP3B1
8 hermansky-pudlak syndrome without pulmonary fibrosis 29.9 HPS6 HPS5 HPS3
9 hermansky-pudlak syndrome 28.9 SNAPIN HPS6 HPS5 HPS4 HPS3 DTNBP1
10 oculocutaneous albinism 27.8 HPS6 HPS5 HPS4 HPS3 DTNBP1 CD63
11 hermansky-pudlak syndrome 7 11.7
12 hermansky-pudlak syndrome 4 11.6
13 hermansky-pudlak syndrome 8 11.6
14 hermansky-pudlak syndrome 10 11.3
15 posttransplant acute limbic encephalitis 10.3
16 gray platelet syndrome 10.2
17 albinism 10.2
18 thrombocytopenia-absent radius syndrome 10.1
19 qualitative platelet defect 10.1
20 disseminated intravascular coagulation 10.1
21 hemangioma 10.1
22 acute erythroid leukemia 10.1
23 thrombocytopenia 10.1
24 jacobsen syndrome 10.1
25 bleeding disorder, platelet-type, 17 10.1
26 albinism, oculocutaneous, type ia 10.1
27 yemenite deaf-blind hypopigmentation syndrome 10.1
28 histiocytoma, angiomatoid fibrous 10.1
29 myelodysplastic syndrome 10.1
30 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.1
31 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
32 pulmonary hypertension 10.1
33 postural orthostatic tachycardia syndrome 10.1
34 acute contagious conjunctivitis 10.1
35 von willebrand's disease 10.1
36 arteriosclerosis 10.1
37 fibrous histiocytoma 10.1
38 night blindness 10.1
39 myeloid leukemia 10.1
40 white platelet syndrome 10.1
41 rare soft tissue tumor 10.1
42 syndromic oculocutaneous albinism 10.1 HPS6 CD63
43 ocular albinism 9.8 HPS6 HPS5 HPS4
44 albinism, oculocutaneous, type ii 9.8 HPS6 HPS5 HPS4 HPS3
45 albinism, oculocutaneous, type iv 9.7 HPS6 HPS5 HPS4 HPS3
46 hermansky-pudlak syndrome with pulmonary fibrosis 9.6 HPS4 DTNBP1
47 exotropia 9.5 HPS6 HPS5 HPS3 BLOC1S3 BLOC1S1
48 griscelli syndrome, type 1 9.4 HPS6 HPS5 HPS4 BLOC1S6 BLOC1S3
49 griscelli syndrome 9.3 HPS6 HPS4 HPS3 BLOC1S6 AP3B1
50 pulmonary fibrosis 9.3 HPS6 HPS5 HPS4 HPS3 DTNBP1

Graphical network of the top 20 diseases related to Storage Pool Platelet Disease:



Diseases related to Storage Pool Platelet Disease

Symptoms & Phenotypes for Storage Pool Platelet Disease

Human phenotypes related to Storage Pool Platelet Disease:

31
# Description HPO Frequency HPO Source Accession
1 myelodysplasia 31 HP:0002863
2 acute leukemia 31 HP:0002488
3 prolonged bleeding time 31 HP:0003010
4 decreased mean platelet volume 31 HP:0005537

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
mild-moderate prolonged bleeding time
decreased platelet aggregation
mild-moderate bleeding tendencies
absent platelet dense bodies
small platelets
more
Laboratory Abnormalities:
mild-moderate prolonged bleeding time
decreased platelet aggregation

Clinical features from OMIM®:

185050 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Storage Pool Platelet Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.15 AP3B1 BLOC1S1 BLOC1S6 CD63 DTNBP1 GFI1B
2 hematopoietic system MP:0005397 10.14 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 GFI1B HPS3
3 cardiovascular system MP:0005385 10.08 AP3B1 BLOC1S6 GFI1B HPS4 HPS5 HPS6
4 cellular MP:0005384 10.06 AP3B1 BLOC1S1 BLOC1S3 BLOC1S6 GFI1B HPS4
5 immune system MP:0005387 9.97 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 GFI1B HPS3
6 integument MP:0010771 9.96 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 GFI1B HPS3
7 hearing/vestibular/ear MP:0005377 9.91 AP3B1 BLOC1S3 BLOC1S6 HPS4 HPS5 HPS6
8 pigmentation MP:0001186 9.81 AP3B1 BLOC1S1 BLOC1S3 BLOC1S6 DTNBP1 HPS3
9 renal/urinary system MP:0005367 9.5 AP3B1 BLOC1S6 CD63 DTNBP1 HPS4 HPS5
10 vision/eye MP:0005391 9.28 AP3B1 BLOC1S1 BLOC1S3 BLOC1S6 DTNBP1 HPS3

Drugs & Therapeutics for Storage Pool Platelet Disease

Drugs for Storage Pool Platelet Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
3
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
4
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
5
Zileuton Approved, Investigational, Withdrawn Phase 1, Phase 2 111406-87-2 60490
6
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
7
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
8 Anti-Arrhythmia Agents Phase 1, Phase 2
9 Erythromycin Estolate Phase 1, Phase 2
10 Respiratory System Agents Phase 1, Phase 2
11 Giapreza Phase 1, Phase 2
12 Hormone Antagonists Phase 1, Phase 2
13 Anticholesteremic Agents Phase 1, Phase 2
14 Gastrointestinal Agents Phase 1, Phase 2
15 Antimetabolites Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Antihypertensive Agents Phase 1, Phase 2
18 Analgesics, Non-Narcotic Phase 1, Phase 2
19 Analgesics Phase 1, Phase 2
20 Erythromycin stearate Phase 1, Phase 2
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
22 Expectorants Phase 1, Phase 2
23 Erythromycin Ethylsuccinate Phase 1, Phase 2
24 Antirheumatic Agents Phase 1, Phase 2
25 Anti-Inflammatory Agents Phase 1, Phase 2
26 Lipid Regulating Agents Phase 1, Phase 2
27 Antidotes Phase 1, Phase 2
28 Antiviral Agents Phase 1, Phase 2
29 Antioxidants Phase 1, Phase 2
30 Leukotriene Antagonists Phase 1, Phase 2
31 Pharmaceutical Solutions Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Anti-Bacterial Agents Phase 1, Phase 2
34 Angiotensinogen Phase 1, Phase 2
35 N-monoacetylcystine Phase 1, Phase 2
36 Angiotensin Receptor Antagonists Phase 1, Phase 2
37 Protective Agents Phase 1, Phase 2
38 Hypolipidemic Agents Phase 1, Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
40 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin

Search NIH Clinical Center for Storage Pool Platelet Disease

Cochrane evidence based reviews: platelet storage pool deficiency

Genetic Tests for Storage Pool Platelet Disease

Anatomical Context for Storage Pool Platelet Disease

MalaCards organs/tissues related to Storage Pool Platelet Disease:

40
Bone Marrow, Bone, Eye, Myeloid, Neutrophil

Publications for Storage Pool Platelet Disease

Articles related to Storage Pool Platelet Disease:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. 57 61
6696991 1984
2
Acquired storage pool deficiency with increased platelet-associated IgG. Report of five cases. 61 57
6449150 1980
3
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
4
Decreased content and surface expression of alpha-granule membrane protein GMP-140 in one of two types of platelet alpha delta storage pool deficiency. 57
1705568 1991
5
Primary pulmonary hypertension in a patient with a familial platelet storage pool disease: role of serotonin. 57
2368783 1990
6
Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface. 57
2443536 1987
7
Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-thromboglobulin, and platelet-derived growth factor. 57
508939 1979
8
Impaired interaction (adhesion-aggregation) of platelets with the subendothelium in storage-pool disease and after aspirin ingestion. A comparison with von Willebrand's disease. 57
1080251 1975
9
Ultrastructural findings in storage pool disease and aspirin-like defects of platelets. 57
4715955 1973
10
Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopathia--"storage pool disease". 57
5009025 1972
11
Hereditary defect in the platelet release reaction caused by a deficiency in the storage pool of platelet adenine nucleotides. 57
5481508 1970
12
A familialdefect in platelet function associated with imapired release of adenosine diphosphate. 57
5349805 1969
13
A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. 61
33513603 2021
14
Inflammatory Biomarkers in Postural Orthostatic Tachycardia Syndrome with Elevated G-Protein-Coupled Receptor Autoantibodies. 61
33562074 2021
15
Alpha-Delta Platelet Storage Pool Deficiency in a Child and Successful Treatment by Umbilical Cord Blood Transplantation: A Case Report and Literature Review. 61
32694497 2020
16
McCune Albright Syndrome: Gastrointestinal Polyps and Platelet Dysfunction over 12 Years. 61
32388508 2020
17
Variation in Platelet Delta Granules Over Time in Young Women Undergoing Evaluation for Heavy Menstrual Bleeding. 61
30301444 2019
18
Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report. 61
30833808 2019
19
Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report. 61
30634918 2019
20
Coexistence of Hermansky-Pudlak syndrome and JAK2V617F-positive essential thrombocythemia. 61
30932722 2019
21
Angiomatoid Fibrous Histiocytoma With Paraneoplastic Platelet Storage Pool Deficiency. 61
29472492 2018
22
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. 61
28259707 2017
23
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. 61
28041820 2017
24
Light Transmission Aggregometry Does Not Correlate With the Severity of δ-Granule Platelet Storage Pool Deficiency. 61
27403770 2016
25
Postural orthostatic tachycardia syndrome is associated with platelet storage pool deficiency. 61
27631244 2016
26
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 61
26744459 2016
27
Neonatal and maternal risk in Hermansky-Pudlak syndrome: peripartum management-brief report and review of literature. 61
24337786 2014
28
Hermansky-Pudlak syndrome: health care throughout life. 61
23753089 2013
29
Hermansky-Pudlak syndrome in a pregnant patient: a case report. 61
23763015 2013
30
Menstrual bleeding patterns and prevalence of bleeding disorders in a multidisciplinary adolescent haematology clinic. 61
23005346 2013
31
The management of gastrointestinal disease in Hermansky-Pudlak syndrome. 61
21085008 2011
32
Novel mutations in the HPS1 gene among Puerto Rican patients. 61
20662851 2011
33
Hermansky-Pudlak syndrome in pregnancy. 61
19370510 2009
34
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. 61
19006216 2008
35
Electron opaque structures in human platelets: which are or are not dense bodies? 61
18925514 2008
36
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. 61
17933573 2008
37
Platelet storage pool deficiency in Jacobsen syndrome. 61
17957568 2007
38
Alpha-delta platelet storage pool deficiency in three generations. 61
17365847 2007
39
Gray Platelet Syndrome in a Somalian family. 61
17127480 2006
40
Monoamine and motor responses to cocaine are co-deficient in the Fawn-Hooded depressed animal model. 61
16626846 2006
41
Platelets and platelet adhesion support angiogenesis while preventing excessive hemorrhage. 61
16418262 2006
42
Golgi complexes in hypogranular platelet syndromes. 61
15763897 2005
43
Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). 61
15102850 2004
44
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. 61
15108212 2004
45
The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. 61
15112108 2004
46
Management of platelet storage pool deficiency during pregnancy. 61
14712979 2003
47
Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion. 61
12647238 2003
48
A clinical variant of familial Hermansky-Pudlak syndrome. 61
12827064 2003
49
Hermansky-Pudlak syndrome: vesicle formation from yeast to man. 61
12453182 2002
50
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. 61
12442288 2002

Variations for Storage Pool Platelet Disease

ClinVar genetic disease variations for Storage Pool Platelet Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GFI1B NM_001377304.1(GFI1B):c.724del (p.His242fs) Deletion Pathogenic 585291 rs1564180346 GRCh37: 9:135865203-135865203
GRCh38: 9:132989816-132989816
2 RUNX1 NM_001754.4(RUNX1):c.622C>T (p.Gln208Ter) SNV Likely pathogenic 627101 rs1601416036 GRCh37: 21:36206890-36206890
GRCh38: 21:34834593-34834593
3 RUNX1 NM_001754.4(RUNX1):c.784C>T (p.Gln262Ter) SNV Likely pathogenic 627384 rs1601415426 GRCh37: 21:36206728-36206728
GRCh38: 21:34834431-34834431
4 HPS6 NM_024747.5(HPS6):c.692C>G (p.Pro231Arg) SNV Uncertain significance 627122 rs754025975 GRCh37: 10:103825923-103825923
GRCh38: 10:102066166-102066166
5 HPS6 NM_024747.5(HPS6):c.1006G>T (p.Asp336Tyr) SNV Uncertain significance 626949 rs772000976 GRCh37: 10:103826237-103826237
GRCh38: 10:102066480-102066480

Expression for Storage Pool Platelet Disease

Search GEO for disease gene expression data for Storage Pool Platelet Disease.

Pathways for Storage Pool Platelet Disease

Pathways related to Storage Pool Platelet Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 SNAPIN HPS4 DTNBP1 BLOC1S6 BLOC1S3 BLOC1S1
2
Show member pathways
11.48 SNAPIN DTNBP1 BLOC1S6 BLOC1S3 BLOC1S1 AP3B1

GO Terms for Storage Pool Platelet Disease

Cellular components related to Storage Pool Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.06 SNAPIN HPS6 HPS5 HPS4 HPS3 DTNBP1
2 endosome GO:0005768 9.73 HPS6 DTNBP1 CD63 BLOC1S6
3 lysosomal membrane GO:0005765 9.73 SNAPIN HPS6 HPS4 CD63 BLOC1S1 AP3B1
4 lysosome GO:0005764 9.72 SNAPIN HPS6 HPS4 CD63 BLOC1S1
5 axon cytoplasm GO:1904115 9.43 SNAPIN DTNBP1 BLOC1S6 BLOC1S3 BLOC1S1 AP3B1
6 BORC complex GO:0099078 9.37 SNAPIN BLOC1S1
7 BLOC-2 complex GO:0031084 9.33 HPS6 HPS5 HPS3
8 BLOC-1 complex GO:0031083 9.02 SNAPIN DTNBP1 BLOC1S6 BLOC1S3 BLOC1S1

Biological processes related to Storage Pool Platelet Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.91 HPS6 HPS5 HPS4 DTNBP1 BLOC1S6 BLOC1S3
2 neuron projection development GO:0031175 9.83 SNAPIN DTNBP1 BLOC1S6 BLOC1S3 BLOC1S1
3 anterograde axonal transport GO:0008089 9.73 SNAPIN DTNBP1 BLOC1S6 BLOC1S3 BLOC1S1 AP3B1
4 organelle organization GO:0006996 9.72 HPS6 HPS5 HPS4 HPS3 DTNBP1
5 platelet dense granule organization GO:0060155 9.71 DTNBP1 BLOC1S3 BLOC1S1 AP3B1
6 lysosome organization GO:0007040 9.69 SNAPIN HPS4 AP3B1
7 lysosome localization GO:0032418 9.67 SNAPIN HPS6 BLOC1S1
8 melanocyte differentiation GO:0030318 9.65 HPS6 HPS4 BLOC1S6
9 endosome to melanosome transport GO:0035646 9.63 CD63 BLOC1S6 BLOC1S3
10 melanosome organization GO:0032438 9.63 SNAPIN DTNBP1 BLOC1S6 BLOC1S3 BLOC1S1 AP3B1
11 regulation of synaptic vesicle exocytosis GO:2000300 9.56 SNAPIN DTNBP1
12 melanosome transport GO:0032402 9.55 BLOC1S6 BLOC1S3
13 positive regulation of natural killer cell activation GO:0032816 9.54 BLOC1S6 BLOC1S3
14 secretion of lysosomal enzymes GO:0033299 9.52 BLOC1S6 BLOC1S3
15 anterograde synaptic vesicle transport GO:0048490 9.43 SNAPIN DTNBP1 BLOC1S6 BLOC1S3 BLOC1S1 AP3B1
16 pigmentation GO:0043473 9.17 HPS6 HPS5 HPS3 CD63 BLOC1S6 BLOC1S3

Molecular functions related to Storage Pool Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.77 SNAPIN RUNX1 HPS6 HPS5 HPS4 HPS3
2 GTP-dependent protein binding GO:0030742 8.62 HPS6 AP3B1

Sources for Storage Pool Platelet Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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