ITGA2B (integrin subunit alpha 2b)

Gene

• Entrez ID: 3674
• Gene name: Integrin subunit alpha 2b
• Gene symbol: ITGA2B
• Synonyms (NCBI Gene): BDPLT16, BDPLT2, CD41, CD41B, FMAIT2, GP2B, GPIIb, GT, GT1, GTA, HPA3, PPP1R93
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74475415	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs76066357	G>C	Pathogenic, benign	Missense variant, coding sequence variant
rs76811038	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs78657866	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs80002943	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs80277041	C>G	Pathogenic	Missense variant, coding sequence variant
rs137852906	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs137852907	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852908	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852910	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852911	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs746091910	C>T	Likely-pathogenic	Splice donor variant
rs759664025	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs763330792	G>A,C,T	Pathogenic	Intron variant
rs766503255	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs778608263	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs780017389	TCTACG>-	Pathogenic	Inframe deletion, coding sequence variant
rs879255508	GGCGCAGGCCTGG>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs879255509	C>T	Pathogenic	Splice donor variant
rs879255514	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1131692013	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1214448436	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1393747638	C>T	Pathogenic	Splice acceptor variant
rs1469711487	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555613692	A>G	Pathogenic	Splice donor variant
rs1598375578	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598375779	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598377051	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1598377980	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598378490	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598379928	C>T	Pathogenic	Splice acceptor variant
rs1598380253	C>T	Pathogenic	Missense variant, coding sequence variant
rs1598380380	C>G	Likely-pathogenic	Splice acceptor variant
rs1598381654	AGCAGATCA>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs1598381778	C>G	Likely-pathogenic	Splice donor variant
rs1598383011	C>T	Likely-pathogenic	Intron variant

Transcription factors

Transcription factor	Regulation	Reference
FLI1	Unknown	15466856
GATA1	Unknown	8408012
RUNX1	Activation	12576332;17725493;18316480
SPI1	Unknown	9305885
STAT6	Unknown	20652946

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IBA
GO:0002687	Process	Positive regulation of leukocyte migration	IEA
GO:0005515	Function	Protein binding	IPI	14681217, 15378069, 19279667, 19805198, 22178926, 22779914, 25849143, 30305279, 37184585
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	NAS	19693543
GO:0007229	Process	Integrin-mediated signaling pathway	HDA	23382103
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	19693543
GO:0008305	Component	Integrin complex	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	HDA	23382103
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0031092	Component	Platelet alpha granule membrane	TAS
GO:0038023	Function	Signaling receptor activity	IBA
GO:0042802	Function	Identical protein binding	IPI	11606749, 14681217, 15067009
GO:0046872	Function	Metal ion binding	IEA
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0060090	Function	Molecular adaptor activity	EXP	11412103
GO:0070051	Function	Fibrinogen binding	IEA
GO:0070062	Component	Extracellular exosome	IDA	15908444
GO:0070442	Component	Integrin alphaIIb-beta3 complex	IBA
GO:0070442	Component	Integrin alphaIIb-beta3 complex	IPI	15378069
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098609	Process	Cell-cell adhesion	IBA

Other IDs

• MIM: 607759
• HGNC: 6138
• e!Ensembl: ENSG00000005961

Protein

• UniProt ID: P08514
• Protein name: Integrin alpha-IIb (GPalpha IIb) (GPIIb) (Platelet membrane glycoprotein IIb) (CD antigen CD41) [Cleaved into: Integrin alpha-IIb heavy chain; Integrin alpha-IIb light chain, form 1; Integrin alpha-IIb light chain, form 2]
• Protein function: Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in f
• PDB: 1DPK, 1DPQ, 1KUP, 1KUZ, 1M8O, 1S4W, 1TYE, 2K1A, 2K9J, 2KNC, 2MTP, 2N9Y, 2VC2, 2VDK, 2VDL, 2VDM, 2VDN, 2VDO, 2VDP, 2VDQ, 2VDR, 3FCS, 3FCU, 3NID, 3NIF, 3NIG, 3T3M, 3T3P, 3ZDX, 3ZDY, 3ZDZ, 3ZE0, 3ZE1, 3ZE2, 4CAK, 4Z7N, 4Z7O, 4Z7Q, 5HDB, 6V4P, 7KN0, 7L8P, 7LA4, 7SC4, 7SFT, 7TCT, 7TD8, 7THO, 7TMZ, 7TPD, 7U60
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01839	FG-GAP	320 → 362	FG-GAP repeat	Repeat
  PF01839	FG-GAP	387 → 423	FG-GAP repeat	Repeat
  PF08441	Integrin_alpha2	481 → 921	Integrin alpha	Family
  PF00357	Integrin_alpha	1020 → 1034	Integrin alpha cytoplasmic region	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in platelets and megakaryocytes, but not in reticulocytes. Not detected in Jurkat, nor in U937 cell lines (PubMed:2351656). Isoform 3 is expressed in prostate adenocarcinoma, as well as in several
• Sequence:

  MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDS
  HGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLRDETRNVGSQTLQTFKA
  RQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFLAQPESGRRAEYSPCRGN
  TLSRIYVENDFSWDKRYCEAGFSSVVTQAGELVLGAPGGYYFLGLLAQAPVADIFSSYRP
  GILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEI
  LDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVY
  LFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQV
  LVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYR
  AQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGATGHNIPQKLSLNAELQ
  LDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPICHTTMAFLRDEADFRDKLSPIVLSL
  NVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGEDDVCVPQLQLTASVTGSPLLVGADN
  VLELQMDAANEGEGAYEAELAVHLPQGAHYMRALSNVEGFERLICNQKKENETRVVLCEL
  GNPMKKNAQIGIAMLVSVGNLEEAGESVSFQLQIRSKNSQNPNSKIVLLDVPVRAEAQVE
  LRGNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTVNGLHLSIHLPGQSQP
  SDLLYILDIQPQGGLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFLPEPEQP
  SRLQDPVLVSCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQRPLDQFVLQSHAW
  FNVSSLPYAVPPLSLPRGEAQVWTQLLRALEERAIPIWWVLVGVLGGLLLLTILVLAMWK
  VGFFKRNRPPLEEDDEEGE

• Sequence length: 1039

Pathways

KEGG:

Rap1 signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Platelet activation
Neutrophil extracellular trap formation
Hematopoietic cell lineage
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Fluid shear stress and atherosclerosis

Reactome:

Platelet degranulation
Integrin cell surface interactions
ECM proteoglycans
Integrin signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
Signal transduction by L1
MAP2K and MAPK activation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Signaling downstream of RAS mutants

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal bleeding	Pathogenic	rs2048557402	RCV001270509
Abnormal platelet aggregation	Likely pathogenic	rs1598378490	RCV000851728
Abnormal platelet function	Pathogenic	rs74664206	RCV000852104
Gastric cancer	Likely pathogenic	rs2048541187	RCV005909229
Glanzmann thrombasthenia	Likely pathogenic; Pathogenic	rs2048619428, rs2143465205, rs483352692, rs2143429307, rs2143436505, rs2143438540, rs776442328, rs1245816431, rs2143450843, rs2143451028, rs2143459811, rs2143461728, rs779910477, rs2143465421, rs2143475577, rs1032879686, rs2143480810, rs2143481657, rs2143481938, rs2143485154, rs137852911, rs1416238665, rs2143489510, rs2143491610, rs2143428858, rs2143485911, rs2143439241, rs2143427792, rs1472992102, rs2143484108, rs2143489377, rs1291613591, rs2143447323, rs2143481840, rs1355838837, rs2143485431, rs2143439415, rs2143447308, rs2143447351, rs2143506473, rs2143447856, rs1196551352, rs2143440798, rs2143478260, rs2048592296, rs2143440696, rs2143452404, rs757268030, rs2143435739, rs2143432066, rs2143447451, rs1400938437, rs2143489430, rs2143429292, rs2143437407, rs2143417444, rs767688038, rs1567906131, rs2510085242, rs2048679372, rs879255508, rs137852906, rs763330792, rs137852907, rs879255509, rs137852908, rs780017389, rs137852910, rs76811038, rs80277041, rs773464534, rs1175814929, rs2510082649, rs2510075036, rs2510077481, rs2143507207, rs2510079502, rs773089115, rs74857210, rs2510083326, rs2510078797, rs2510070789, rs2510079586, rs2510070728, rs2510085373, rs2510075915, rs2510075075, rs2048615415, rs2048538273, rs2510083090, rs779058045, rs2048534441, rs2510082300, rs2510088074, rs2510080622, rs1389409325, rs2510077754, rs2510088109, rs2048640591, rs2510079522, rs2143452148, rs74475415, rs776820510, rs2510072662, rs2510087960, rs2510084880, rs767588159, rs2510074983, rs1182502058, rs2510072374, rs2048640612, rs2510074733, rs2510074785, rs2510080068, rs2510079782, rs2510085546, rs2510085154, rs2510084724, rs2510079291, rs2510082644, rs2510084269, rs2510077579, rs2510074739, rs781357804, rs148618973, rs556258793, rs1369462778, rs1210788594, rs2510085513, rs2510074137, rs2510084207, rs2510073184, rs2048587538, rs2510079259, rs2510084868, rs78657866, rs780786843, rs1555613692, rs746091910, rs1598375779, rs1598377051, rs1598377980, rs1598378490, rs778608263, rs1214448436, rs1469711487, rs74664206, rs1598380380, rs992856733, rs1393747638, rs151179377, rs1598380253, rs1598381778, rs2048642260, rs2048504402, rs1467071163, rs2048521625, rs2048521744, rs2048523431, rs79657230, rs781644489, rs2048524687, rs200846140, rs2048550327, rs2048557642, rs77961246, rs1236922680, rs2048578129, rs1261397461, rs1344768030, rs780837520, rs2048583710, rs2048585829, rs78218617, rs75622274, rs2048615633, rs1476448476, rs531610168, rs753264426, rs2048627164, rs2048632227, rs2048635467, rs1598383011, rs2048639927, rs148327798, rs2048640485, rs1279297832, rs747956782, rs2048645725, rs1052533574, rs2048678209, rs2048678902, rs2048632400, rs2048521407, rs2048541187, rs769156315, rs2048591163, rs2048641442, rs2048646560, rs1291802895, rs77458039, rs76572092, rs2048535487, rs2048535976, rs2048539289, rs1166506747, rs2048550784, rs75028796, rs77229108, rs74602141, rs769405222, rs2048581747, rs2048613694, rs2048616842, rs2048619898, rs2048619921, rs78321762, rs1194700242, rs2048632055, rs2048635741, rs2048639566, rs79713558, rs2048646082	RCV001332427 RCV001387239 RCV002510782 RCV001580216 RCV001580239 RCV001580259 RCV001580222 RCV001580230 RCV001580215 RCV001580236 RCV001580242 RCV001580243 RCV001580257 RCV001580221 RCV001580234 RCV001580228 RCV001580263 RCV001580226 RCV001580237 RCV001580219 RCV001580255 RCV001580241 RCV001580238 RCV001580235 RCV001803405 RCV001803410 RCV001803412 RCV001803413 RCV001803421 RCV001803422 RCV001803423 RCV001803435 RCV001803436 RCV001803437 RCV001803438 RCV001803439 RCV001803440 RCV004577560 RCV004577561 RCV003464410 RCV002254790 RCV002254793 RCV002254797 RCV002254798 RCV002254801 RCV002254803 RCV002254804 RCV002254806 RCV002254808 RCV002254810 RCV002254812 RCV002254813 RCV002254819 RCV002254820 RCV002254821 RCV002254823 RCV002254825 RCV002254826 RCV002511149 RCV002511150 RCV001580260 RCV000003026 RCV000003027 RCV001580249 RCV000003029 RCV000003030 RCV001580248 RCV001580264 RCV000003034 RCV000003035 RCV000003037 RCV002511169 RCV002511514 RCV002511519 RCV002511524 RCV002511527 RCV002511531 RCV002511532 RCV002511534 RCV002511535 RCV002511536 RCV002511537 RCV002511538 RCV002511539 RCV002511541 RCV002511545 RCV002511550 RCV002511551 RCV002511552 RCV002511553 RCV002511554 RCV002511556 RCV002511559 RCV002511561 RCV002511562 RCV002511563 RCV002511564 RCV002511565 RCV002511566 RCV002716720 RCV002847270 RCV003041017 RCV000490428 RCV003222556 RCV003222558 RCV003222561 RCV003222563 RCV003222567 RCV003222568 RCV003222569 RCV003222574 RCV003222576 RCV003234987 RCV003234989 RCV003234990 RCV003234991 RCV003234996 RCV003234998 RCV003234999 RCV003235000 RCV003330341 RCV003330345 RCV003330346 RCV003459894 RCV003501500 RCV003606210 RCV003606751 RCV004018190 RCV004018240 RCV004577676 RCV004577677 RCV004577678 RCV004577682 RCV004577685 RCV004577687 RCV004577688 RCV001225295 RCV001225257 RCV000527479 RCV000689591 RCV000851764 RCV000851591 RCV001044708 RCV004577531 RCV000851720 RCV000852005 RCV000851822 RCV001225236 RCV000851671 RCV000851670 RCV000851783 RCV000778499 RCV000003031 RCV001003531 RCV001059843 RCV001225227 RCV001225275 RCV001225294 RCV001225229 RCV001225248 RCV001225251 RCV001225282 RCV001225228 RCV001225291 RCV001225274 RCV001225256 RCV001225296 RCV001225269 RCV001225272 RCV001225283 RCV001225266 RCV001225292 RCV001225249 RCV001225233 RCV001225302 RCV001225235 RCV001225232 RCV001225278 RCV001225237 RCV001225276 RCV001225247 RCV001225293 RCV001225245 RCV001225230 RCV001225226 RCV001225250 RCV001225246 RCV001225231 RCV001225258 RCV001225281 RCV001225270 RCV001225273 RCV001225268 RCV001225271 RCV001226571 RCV001254667 RCV001254666 RCV001254665 RCV001254664 RCV001254663 RCV001254662 RCV001290461 RCV001290459 RCV001290467 RCV001290497 RCV001290452 RCV001290486 RCV001290475 RCV001290505 RCV001290500 RCV001290488 RCV001290490 RCV001290504 RCV001290493 RCV001290474 RCV001290494 RCV001290463 RCV001290464 RCV001290451 RCV001290485 RCV001290498 RCV001290450 RCV001290465 RCV001290489 RCV001290479
Glanzmann thrombasthenia 1	Likely pathogenic; Pathogenic	rs2048619428, rs1416238665, rs2143447308, rs2143447351, rs2143506473, rs2143507418, rs2143447451, rs2143417444, rs754740619, rs2510085242, rs2048679372, rs879255508, rs137852906, rs763330792, rs137852907, rs879255509, rs137852908, rs780017389, rs137852910, rs76811038, rs137852911, rs80277041, rs773464534, rs74475415, rs1182502058, rs1567898633, rs2510083991, rs78657866, rs780786843, rs778608263, rs1469711487, rs74664206, rs1598380253, rs2048521625, rs77961246, rs1236922680, rs780837520, rs2048585829, rs75622274, rs753264426, rs2048640485, rs1279297832, rs2048645725, rs1052533574, rs769156315, rs1291802895, rs76572092, rs2048535487, rs2048616842, rs2048646082	RCV004762095 RCV003989698 RCV002245327 RCV002245328 RCV002245330 RCV002250897 RCV002280917 RCV004526920 RCV002281023 RCV002281026 RCV002281028 RCV000003023 RCV001580165 RCV001580164 RCV000003028 RCV001580163 RCV001580162 RCV000003032 RCV000003033 RCV001580160 RCV001580159 RCV001580157 RCV002466786 RCV002254157 RCV003388176 RCV003340824 RCV004006261 RCV002225613 RCV002244886 RCV003313788 RCV002222050 RCV003327457 RCV001580161 RCV002222679 RCV002254204 RCV003313995 RCV002254203 RCV002222678 RCV002280899 RCV002245885 RCV002245882 RCV002280900 RCV005014257 RCV004782674 RCV003339566 RCV005866922 RCV002283539 RCV002254213 RCV003313793 RCV002254212
ITGA2B-related disorder	Pathogenic; Likely pathogenic	rs1567906131, rs76811038, rs74475415, rs2510078765, rs2510080503, rs780786843, rs2048585829	RCV003230741 RCV004737134 RCV004547508 RCV004550650 RCV004550707 RCV004551447 RCV004738199
Lung cancer	Likely pathogenic	rs1182502058	RCV005927300
Macrothrombocytopenia	Pathogenic	rs1598377980	RCV000852070
Platelet-type bleeding disorder 16	Likely pathogenic; Pathogenic	rs2143417444, rs137852906, rs137852911, rs773464534, rs74475415, rs778608263, rs79657230, rs2048645725	RCV005008492 RCV004795368 RCV005007810 RCV003340494 RCV004796106 RCV002222626 RCV002245883 RCV005014257
Thrombocytopenia	Pathogenic	rs2048557402	RCV001270509

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs41361752	RCV005895088
BAK PLATELET-SPECIFIC ANTIGEN	Benign	rs5911	RCV000003025
Cervical cancer	Uncertain significance	rs761174160	RCV005932005
Clear cell carcinoma of kidney	Benign	rs41361752	RCV005895089
Colorectal cancer	Likely benign	rs148888502	RCV005926742
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs1322970449	RCV004557742
Familial cancer of breast	Benign; Uncertain significance	rs850730, rs139878415	RCV005891256 RCV005906979
FETOMATERNAL ALLOIMMUNE THROMBOCYTOPENIA 2	Uncertain significance	rs766503255	RCV006257262
Malignant tumor of urinary bladder	Uncertain significance	rs75998071	RCV005932195
Ovarian serous cystadenocarcinoma	Uncertain significance	rs1488526922	RCV005932004
Sarcoma	Benign	rs41361752	RCV005895090
Uterine corpus endometrial carcinoma	Benign	rs41361752	RCV005895091

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Coronary Syndrome	Associate	11079651
Acute Coronary Syndrome	Inhibit	12487787
Acute erythroleukemia	Associate	9753066
Anemia Aplastic	Inhibit	22315490
Anemia Refractory with Excess of Blasts	Associate	34964228
Anemia Sickle Cell	Associate	39267277
Angina Unstable	Associate	11719362, 12025897
Arthritis Rheumatoid	Associate	25639560
Atherosclerosis	Associate	21353223
Atrial Fibrillation	Stimulate	27736274
Atrial Fibrillation	Associate	30402862
Autoimmune Diseases	Stimulate	34462261
Bernard Soulier Syndrome	Associate	40565512, 8916947
beta Thalassemia	Stimulate	15795925
beta Thalassemia	Associate	26201722, 27288406, 30407298, 34474730, 34766575, 36209112, 39267277
Blood Platelet Disorders	Associate	12091342, 15681423, 22294727, 25466164, 25728920, 26096001, 27469266, 28948953, 30188609, 30721642, 31851564, 33600779, 33712020, 34066320, 35596611, 36179652, 40126091
Blood Platelet Disorders	Inhibit	12487787
Bone Diseases	Inhibit	27153759
Breast Neoplasms	Associate	31759986, 33267867
Carcinoma Hepatocellular	Associate	34469466
Carcinoma Renal Cell	Associate	26198048
Cardiomyopathies	Associate	30402862
Cardiovascular Diseases	Associate	11514957, 20604957
Cell Transformation Viral	Associate	37729123
Cerebral Hemorrhage	Associate	20823666
Cerebral Infarction	Associate	18383324, 25748430
Cerebrovascular Disorders	Associate	25748430
Chagas Cardiomyopathy	Associate	31538834
Coronary Artery Disease	Associate	10080474, 22738689, 26556638
COVID 19	Associate	33413422, 34440879, 35557984
COVID 19 post intensive care syndrome	Associate	34752677
Death	Associate	27761580
Diabetes Mellitus	Associate	18983513, 20604957
Diabetes Mellitus	Stimulate	20823666, 37522815
Diabetes Mellitus Type 2	Associate	18983513
Drug Resistant Epilepsy	Associate	9432017
Endocarditis	Associate	21044892
Epidermodysplasia Verruciformis	Associate	35202881
Epileptic Syndromes	Associate	33276370
Fibrosis	Associate	34469466
Genetic Diseases Inborn	Associate	22394243
Heart Failure	Associate	36761158
Hemangioblastoma	Associate	26468019
Hemoglobinopathies	Associate	34766575
Hemophilia A	Associate	35054807
Hemorrhage	Associate	15099289, 15226188, 19172520, 25734216, 29090484, 29675921, 3006053, 36142161, 40126091
Hypomagnesemia primary	Associate	36199105
Idiopathic Noncirrhotic Portal Hypertension	Inhibit	31851564
Inflammation	Associate	12487782, 17644514
Jacobsen Distal 11q Deletion Syndrome	Associate	15232614
Kidney Failure Chronic	Associate	22880801
Kidney Failure Chronic	Inhibit	7526025
Kidney Neoplasms	Associate	30967864
Leukemia	Associate	15345290, 23460890
Leukemia Megakaryoblastic Acute	Associate	3165292
Leukemia Megakaryoblastic Acute	Stimulate	9753066
Leukemia Myeloid Acute	Associate	12717686, 23450818, 36199105
Leukemia Myeloid Acute	Stimulate	37729123
Leukemia T Cell	Associate	9753066
Macrothrombocytopenia Autosomal Dominant Tubb1 Related	Associate	29090484, 33276370
Malpuech facial clefting syndrome	Associate	33090654
Microvascular Angina	Associate	23558828
Myelodysplastic Syndromes	Associate	34964228, 37729123
Myeloproliferative Disorders	Associate	23450818
Myocardial Infarction	Associate	12073410, 15227729, 20823666, 22329762, 40305362
Myocardial Infarction	Stimulate	29329538
Myocardial Ischemia	Associate	37892152
Myopathies Structural Congenital	Associate	29799301
Neoplasms	Stimulate	11682459
Neoplasms	Associate	21182493, 30335544, 30967864
Neoplasms Basal Cell	Associate	11682459, 14691052
Non ST Elevated Myocardial Infarction	Associate	40305362
Obesity	Stimulate	33207279
Osteoporosis	Associate	27153759
Platelet Aggregation Spontaneous	Associate	2932469
Primary Myelofibrosis	Associate	15454487
Pulmonary Disease Chronic Obstructive	Stimulate	30532530
Purpura Thrombocytopenic Idiopathic	Associate	11535516, 30967864, 8977249
Purpura Thrombocytopenic Idiopathic	Stimulate	36738663
Sleep Apnea Obstructive	Associate	21509332
Small Cell Lung Carcinoma	Associate	37179440
ST Elevation Myocardial Infarction	Associate	34360827
Stroke	Associate	35557984
Takayasu Arteritis	Associate	16636497
Telangiectasia Hereditary Hemorrhagic	Associate	40126091
Thalassemia	Associate	34766575, 40542663
Thrombasthenia	Associate	11798398, 12871379, 1317725, 14508803, 15099289, 1702098, 19691478, 2014236, 21487445, 22394243, 25728920, 25734216, 26096001, 27469266, 28948953, 29385657, 3086385, 31029159, 31088191, 32089034, 33276370, 33496739, 33600779, 34066320, 34275420, 3548842, 37604334, 40126091, 40565512, 7706461, 8111043, 8282784, 9695977
Thrombasthenia	Inhibit	25607928
Thrombocythemia Essential	Inhibit	17577920
Thrombocythemia Essential	Associate	33599741, 9354672
Thrombocytopenia	Associate	31119735, 33276370
Thrombocytopenia chromosome breakage	Associate	31119735
Thrombocytopenia Neonatal Alloimmune	Associate	11370330, 22070736, 25827233
Thrombocytopenia Neonatal Alloimmune	Stimulate	15678278
Thrombosis	Associate	10080474, 12073410, 17127487, 26160282, 30721642
Thrombosis	Stimulate	22329762
Transfusion Reaction	Associate	15678278
Tuberculosis Pulmonary	Associate	29420060
Tuberculosis Pulmonary	Stimulate	37522815
von Willebrand Disease Type 1	Associate	15099289
von Willebrand Diseases	Associate	2932469