Primary Thrombocytopenia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRM225 MIFTS: 39	Primary Thrombocytopenia Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
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Aliases & Classifications for Primary Thrombocytopenia

MalaCards integrated aliases for Primary Thrombocytopenia:

Name: Primary Thrombocytopenia ¹² ¹⁵ ⁷⁰

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases
Anatomical: Immune diseases Blood diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³²

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

Other primary thrombocytopenia

External Ids:

Disease Ontology ¹² DOID:8925

ICD9CM ³⁴ 287.39

SNOMED-CT ⁶⁷ 191435001

ICD10 ³² D69.4

UMLS ⁷⁰ C0477317 C0701157

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Summaries for Primary Thrombocytopenia

MalaCards based summary : Primary Thrombocytopenia is related to thrombocytopenic purpura, autoimmune and thrombocytosis. An important gene associated with Primary Thrombocytopenia is ICOSLG (Inducible T Cell Costimulator Ligand), and among its related pathways/superpathways are Innate Immune System and TGF-Beta Pathway. The drugs Pharmaceutical Solutions and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and spleen, and related phenotypes are hematopoietic system and homeostasis/metabolism

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Related Diseases for Primary Thrombocytopenia

Diseases in the Thrombocytopenia family:

Thrombocytopenia 2	Thrombocytopenia 3
Thrombocytopenia 1	Thrombocytopenia 4
Thrombocytopenia 5	Thrombocytopenia 6
Thrombocytopenia 7	Acquired Thrombocytopenia
Thrombocytopenia Due to Platelet Alloimmunization	Primary Thrombocytopenia
Ankrd26-Related Thrombocytopenia

Diseases related to Primary Thrombocytopenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 441)

#	Related Disease	Score	Top Affiliating Genes
1	thrombocytopenic purpura, autoimmune	31.0	THPO MPL ITGB3 ITGA2B ICOSLG FCGR2B
2	thrombocytosis	29.9	THPO MPL F3 F2
3	essential thrombocythemia	29.6	THPO MPL ITGB3 ITGA2B F3 F2
4	thrombosis	29.4	ITGB3 ITGA2B F3 F2 CD40LG ADAMTS13
5	thrombocytopenia	28.5	TNFSF13B THPO MPL ITGB3 ITGA2B IL10
6	thrombocytopenia 3	10.5	THPO MPL
7	cork-handlers' disease	10.4	CD8A CD4
8	necrotic uveal melanoma	10.4	CD8A CD4
9	early yaws	10.4	CD8A CD4
10	ventilation pneumonitis	10.4	CD8A CD4
11	acquired thrombocytopenia	10.4	THPO MPL ITGA2B
12	diffuse infiltrative lymphocytosis syndrome	10.4	CD8A CD4
13	fetal and neonatal alloimmune thrombocytopenia	10.4	ITGB3 ITGA2B
14	dyskeratosis congenita, autosomal dominant 6	10.4	THPO MPL
15	latent syphilis	10.4	CD8A CD4
16	type 1 diabetes mellitus 23	10.4	CD8A CD4
17	autoimmune lymphoproliferative syndrome, type iia	10.4	CD8A CD4
18	microscopic polyangiitis	10.4	FCGR2B FCGR2A
19	acute proliferative glomerulonephritis	10.4	ICOSLG CD4 CCR6
20	childhood type dermatomyositis	10.4	ICOSLG CD4 CCR6
21	lobomycosis	10.4	CD4 CD19
22	parapsoriasis	10.4	CD8A CD4
23	gastroduodenitis	10.4	CD8A CD4
24	autoimmune neuropathy	10.4	ICOSLG FCGR2B CD4
25	bullous skin disease	10.4	ICOSLG CD4 CCR6
26	primary syphilis	10.4	CD8A CD4
27	suppurative lymphadenitis	10.4	CD4 CCR6
28	norwegian scabies	10.4	CD8A CD4
29	anti-basement membrane glomerulonephritis	10.4	FCGR2B CD4 CCR6
30	bird fancier's lung	10.4	CD8A CD4
31	esophageal candidiasis	10.4	CD8A CD4 CCR6
32	syphilitic meningitis	10.4	MPL CD8A CD4
33	pneumonic tularemia	10.4	CD8A CD4 CCR6
34	tularemia	10.4	CD8A CD4 CCR6
35	scleral disease	10.4	CD8A CD4 CCR6
36	aspirin resistance	10.4	ITGB3 F2
37	basilar artery occlusion	10.4	ITGA2B F2
38	autoimmune cholangitis	10.4	CD8A CD4 CCR6
39	sudden sensorineural hearing loss	10.4	ITGB3 F2
40	listeria meningitis	10.4	CD8A CD52
41	geotrichosis	10.4	CD40LG CD4
42	anogenital venereal wart	10.4	CD8A CD4 CCR6
43	monoclonal gammopathy of uncertain significance	10.4	ICOSLG CD19 CCR6
44	blepharitis	10.4	CD8A CD4 CCR6
45	vulvar angiokeratoma	10.4	HP F3
46	cranial nerve disease	10.4	ICOSLG CD4 CCR6
47	penile disease	10.4	CD8A CD4 CCR6
48	achenbach syndrome	10.3	F3 F2
49	nail disease	10.3	CD8A CD4 CCR6
50	brachydactyly, type c	10.3	CD8A CD4 CCR6

Comorbidity relations with Primary Thrombocytopenia via Phenotypic Disease Network (PDN):

Acquired Thrombocytopenia	Active Peptic Ulcer Disease
Acute Cystitis	Deficiency Anemia
Familial Atrial Fibrillation	Heart Disease
Hypersplenism	Hypothyroidism
Neutropenia	Retinitis Pigmentosa and Erythrocytic Microcytosis

Graphical network of the top 20 diseases related to Primary Thrombocytopenia:

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Symptoms & Phenotypes for Primary Thrombocytopenia

MGI Mouse Phenotypes related to Primary Thrombocytopenia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	10.27	ADAMTS13 CCR6 CD19 CD4 CD40LG CD8A
2	homeostasis/metabolism	MP:0005376	10.2	ADAMTS13 CCR6 CD19 CD4 CD40LG F2
3	immune system	MP:0005387	10.19	ADAMTS13 CCR6 CD19 CD4 CD40LG CD8A
4	cellular	MP:0005384	10.18	CD19 CD4 CD40LG CD8A F2 F3
5	integument	MP:0010771	9.81	CD19 CD4 CD40LG CD8A F2 F3
6	mortality/aging	MP:0010768	9.8	ADAMTS13 CD19 CD4 CD40LG CD8A F2
7	normal	MP:0002873	9.32	ADAMTS13 CCR6 CD19 CD4 CD8A F2

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Drugs & Therapeutics for Primary Thrombocytopenia

Drugs for Primary Thrombocytopenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Pharmaceutical Solutions		Phase 3
2	Immunoglobulins		Phase 3
3	Antibodies		Phase 3
4	Immunoglobulins, Intravenous		Phase 3

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Prospective, Open-label, Non-controlled, Multicenter, Phase III Clinical Study to Evaluate the Efficacy and Safety of Immunoglobulin Intravenous (Human) 10% (NewGam) in Primary Immune Thrombocytopenia	Completed	NCT01349790	Phase 3	NewGam

Search NIH Clinical Center for Primary Thrombocytopenia

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Genetic Tests for Primary Thrombocytopenia

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Anatomical Context for Primary Thrombocytopenia

MalaCards organs/tissues related to Primary Thrombocytopenia:

⁴⁰

Bone Marrow, Spleen

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Publications for Primary Thrombocytopenia

Articles related to Primary Thrombocytopenia:

(show all 15)

#	Title	Authors	PMID	Year
1	Platelet polyphosphate level is elevated in patients with chronic primary thrombocytopenia: A preliminary study. ⁶¹	Zurawska-Plaksej E...Usnarska-Zubkiewicz L	32946685	2020
2	[Clinical Characteristics and Bone Marrow Histopathology Features in Essential Thrombocythaemia Patients with Different Gene Mutation in China]. ⁶¹	Ye XP...Bao S	32798421	2020
3	Romiplostim and Eltrombopag in Immune Thrombocytopenia as a Second-Line Treatment. ⁶¹	Bidika E...Cancarevic I	32968581	2020
4	Safety and Efficacy of Eltrombopag in Post-hematopoietic Stem Cell Transplantation (HSCT) Thrombocytopenia. ⁶¹	Raut SS...Shukla SN	26306064	2015
5	Deep vein thrombosis after arthroscopic anterior cruciate ligament reconstruction in a patient with primary thrombocytopenia. ⁶¹	Kang H...Yu D	25230271	2014
6	Laparoscopic versus open splenectomy: the impact of spleen size on outcomes. ⁶¹	Ardestani A...Tavakkoli A	23781954	2013
7	[Economic evaluation of Thrombopoietin Receptor Agonists in the treatment of chronic primary immune thrombocytopenia]. ⁶¹	Parrondo J...Villa G	23789796	2013
8	Research and development of the effective components of panaxdiol saponin as new Chinese patent medicine for treating hemocytopenia. ⁶¹	Gao RL...Chong BH	23238997	2012
9	[Practical comments on the use of immunoglobulins]. ⁶¹	Lewandowicz-Uszynska A...Swierkot J	21751557	2011
10	Analysis of the impact and burden of illness of adult chronic ITP in the US. ⁶¹	Saleh MN...Grotzinger KM	19835465	2009
11	Attenuated form of Evans syndrome among pediatric ITP patients. ⁶¹	Dash S...Trehan A	16651673	2006
12	Are there "Attenuated" Forms of Evans Syndrome? ⁶¹	Ruiz-Arguelles GJ...Alarcon-Segovia D	27405699	2001
13	[A management program for primary thrombocytopenia]. ⁶¹	Knutsen H...Bruserud O	10553341	1999
14	[Recurrent hemolytic uremic syndrome (author's transl)]. ⁶¹	Kreisinger J...Janda J	7421869	1980
15	Splenectomy for primary thrombocytopenia. ⁶¹	RINGER NE...INGALA A	14811367	1951

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Genes for Primary Thrombocytopenia

Genes related to Primary Thrombocytopenia (0 elite genes):

(show all 26)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	9.62	DISEASES inferred ¹⁵ ¹⁵
2	THPO	Thrombopoietin	Protein Coding	8.49	DISEASES inferred ¹⁵
3	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	8.24	DISEASES inferred ¹⁵
4	MPL	MPL Proto-Oncogene, Thrombopoietin Receptor	Protein Coding	8.01	DISEASES inferred ¹⁵
5	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	7.85	DISEASES inferred ¹⁵ ¹⁵
6	CD4	CD4 Molecule	Protein Coding	7.07	DISEASES inferred ¹⁵
7	ITGB3	Integrin Subunit Beta 3	Protein Coding	6.98	DISEASES inferred ¹⁵
8	ADAMTS13	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13	Protein Coding	6.87	DISEASES inferred ¹⁵
9	CD52	CD52 Molecule	Protein Coding	6.68	DISEASES inferred ¹⁵
10	FCGR2B	Fc Fragment Of IgG Receptor IIb	Protein Coding	6.65	DISEASES inferred ¹⁵
11	CD8A	CD8a Molecule	Protein Coding	6.65	DISEASES inferred ¹⁵
12	CD19	CD19 Molecule	Protein Coding	6.59	DISEASES inferred ¹⁵
13	FCGR2A	Fc Fragment Of IgG Receptor IIa	Protein Coding	6.58	DISEASES inferred ¹⁵
14	F3	Coagulation Factor III, Tissue Factor	Protein Coding	6.5	DISEASES inferred ¹⁵
15	HP	Haptoglobin	Protein Coding	6.43	DISEASES inferred ¹⁵
16	TNFSF13B	TNF Superfamily Member 13b	Protein Coding	6.42	DISEASES inferred ¹⁵
17	RHCE	Rh Blood Group CcEe Antigens	Protein Coding	6.39	DISEASES inferred ¹⁵
18	F2	Coagulation Factor II, Thrombin	Protein Coding	6.39	DISEASES inferred ¹⁵
19	CD40LG	CD40 Ligand	Protein Coding	6.34	DISEASES inferred ¹⁵
20	IL10	Interleukin 10	Protein Coding	6.3	DISEASES inferred ¹⁵
21	VWF	Von Willebrand Factor	Protein Coding	6.27	DISEASES inferred ¹⁵
22	RHD	Rh Blood Group D Antigen	Protein Coding	6.24	DISEASES inferred ¹⁵
23	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	6.23	DISEASES inferred ¹⁵
24	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	6.2	DISEASES inferred ¹⁵
25	FOXP3	Forkhead Box P3	Protein Coding	6.18	DISEASES inferred ¹⁵
26	IL2	Interleukin 2	Protein Coding	6.15	DISEASES inferred ¹⁵

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Variations for Primary Thrombocytopenia

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Expression for Primary Thrombocytopenia

Search GEO for disease gene expression data for Primary Thrombocytopenia.

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Pathways for Primary Thrombocytopenia

Pathways related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	13.86	TNFSF13B ITGB3 ITGA2B IL10 ICOSLG HP
2	TGF-Beta Pathway ⁶³ Show member pathways JAK-STAT Pathway ⁶³ JNK Pathway ⁶³ MAPK Family Pathway ⁶³ Regulation of eIF4 and p70S6K ⁶³ SOCS Pathway ⁶³	13.43	TNFSF13B THPO MPL ITGB3 ITGA2B IL10
3	Akt Signaling ⁶³ Show member pathways p38 Signaling ⁶³ Tec Kinases Signaling ⁶³	13.3	TNFSF13B THPO ITGB3 ITGA2B IL10 CD40LG
4	Allograft rejection ¹ ³⁶ Show member pathways Antigen processing and presentation ³⁶ Asthma ³⁶ Autoimmune thyroid disease ³⁶ CTL Mediated Apoptosis ⁶³ Graft-versus-host disease ³⁶ Intestinal immune network for IgA production ³⁶ THC Differentiation Pathway ⁶³ Type I diabetes mellitus ³⁶ Viral myocarditis ³⁶	12.7	TNFSF13B IL10 ICOSLG CD8A CD40LG CD4
5	NF-kappaB Signaling ⁴	12.36	TNFSF13B MPL IL10 CD8A CD40LG CD19
6	Cell adhesion molecules ³⁶	12.03	ICOSLG CD8A CD40LG CD4
7	Yersinia infection ³⁶	11.97	IL10 FCGR2A CD8A CD4
8	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.96	FCGR2B CD8A CD40LG CD19
9	Platelet activation ³⁶	11.89	ITGB3 ITGA2B FCGR2A F2
10	Phagocytosis of Microbes ⁶³	11.7	ITGB3 ITGA2B FCGR2A
11	Integrin alphaIIb beta3 signaling ⁶⁵ Show member pathways GRB2-SOS provides linkage to MAPK signaling for Integrins ⁶⁵ p130Cas linkage to MAPK signaling for integrins ⁶⁵ Platelet Aggregation (Plug Formation) ⁶⁵	11.65	THPO MPL ITGB3 ITGA2B F2
12	Innate Lymphoid Cell Differentiation Pathways ⁶⁴	11.64	IL10 CD8A CD4 CCR6
13	Hematopoietic cell lineage ³⁶	11.63	THPO ITGB3 ITGA2B CD8A CD4 CD19
14	Dendritic Cells Developmental Lineage Pathway ⁶⁴	11.57	IL10 CD8A CD4 CD19
15	IL4-mediated signaling events ¹	11.56	ITGB3 IL10 CD40LG
16	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.46	ITGB3 ITGA2B F2
17	Signaling events mediated by PTP1B ¹	11.44	ITGB3 ITGA2B FCGR2A
18	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.34	THPO MPL ITGB3 ITGA2B IL10 FCGR2A
19	IgA-Producing B Cells in the Intestine ⁶⁴	11.32	TNFSF13B IL10 ICOSLG FCGR2B FCGR2A CD40LG
20	Primary immunodeficiency ³⁶	11.2	CD8A CD40LG CD4 CD19
21	G-protein signaling_Rap2B regulation pathway ²³	10.89	TNFSF13B THPO ITGB3 ITGA2B IL10 CD40LG

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GO Terms for Primary Thrombocytopenia

Cellular components related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	10.2	TNFSF13B RHCE MPL ITGB3 ITGA2B ICOSLG
2	extracellular region	GO:0005576	10.07	TNFSF13B THPO IL10 HP F3 F2
3	plasma membrane	GO:0005886	10.03	TNFSF13B MPL ITGB3 ITGA2B ICOSLG FCGR2B
4	extracellular space	GO:0005615	10.01	TNFSF13B THPO IL10 HP F3 F2
5	integral component of plasma membrane	GO:0005887	9.91	RHCE ITGB3 FCGR2B FCGR2A CD8A CD40LG
6	cell surface	GO:0009986	9.56	MPL ITGB3 ITGA2B F3 CD40LG CD4
7	external side of plasma membrane	GO:0009897	9.28	ITGA2B ICOSLG FCGR2B F2 CD8A CD40LG

Biological processes related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	immune system process	GO:0002376	9.87	TNFSF13B ICOSLG HP FCGR2A CD8A CD4
2	positive regulation of protein phosphorylation	GO:0001934	9.83	THPO ITGB3 F2 CD4
3	blood coagulation	GO:0007596	9.81	ITGB3 F3 F2 ADAMTS13
4	cell surface receptor signaling pathway	GO:0007166	9.77	FCGR2B FCGR2A F2 CD8A CD4
5	positive regulation of endothelial cell proliferation	GO:0001938	9.72	ITGB3 IL10 F3
6	positive regulation of T cell proliferation	GO:0042102	9.71	TNFSF13B CD40LG CD4
7	hemostasis	GO:0007599	9.67	F3 F2 ADAMTS13
8	T cell costimulation	GO:0031295	9.65	TNFSF13B ICOSLG CD40LG
9	T cell activation	GO:0042110	9.61	ICOSLG CD8A CD4
10	platelet aggregation	GO:0070527	9.58	MPL ITGB3 ITGA2B
11	platelet activation	GO:0030168	9.56	ITGB3 F2 CD40LG ADAMTS13
12	immune response	GO:0006955	9.5	TNFSF13B IL10 FCGR2B CD8A CD40LG CD4
13	thrombopoietin-mediated signaling pathway	GO:0038163	9.46	THPO MPL
14	integrin-mediated signaling pathway	GO:0007229	9.46	ITGB3 ITGA2B CD40LG ADAMTS13
15	regulation of immune response	GO:0050776	9.1	TNFSF13B FCGR2B FCGR2A CD8A CD40LG CD19

Molecular functions related to Primary Thrombocytopenia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytokine activity	GO:0005125	9.56	TNFSF13B THPO IL10 CD40LG
2	signaling receptor binding	GO:0005102	9.55	TNFSF13B THPO ICOSLG F2 CD4
3	IgG binding	GO:0019864	9.32	FCGR2B FCGR2A
4	fibrinogen binding	GO:0070051	8.96	ITGB3 ITGA2B
5	coreceptor activity	GO:0015026	8.8	ITGB3 CD8A CD4

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Sources for Primary Thrombocytopenia

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

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia