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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal bleeding	Pathogenic	rs2048557402	RCV001270509	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal platelet aggregation	Likely pathogenic	rs1598378490	RCV000851728	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal platelet function	Pathogenic	rs74664206	RCV000852104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic	rs2048541187	RCV005909229	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ITGA2B-related disorder	Pathogenic; Likely pathogenic	rs1567906131, rs76811038, rs74475415, rs2510078765, rs2510080503, rs780786843, rs2048585829	RCV003230741 RCV004737134 RCV004547508 RCV004550650 RCV004550707 RCV004551447 RCV004738199	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic	rs1182502058	RCV005927300	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Pathogenic	rs1598377980	RCV000852070	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Platelet-type bleeding disorder 16	Likely pathogenic; Pathogenic	rs2143417444, rs137852906, rs137852911, rs773464534, rs74475415, rs778608263, rs79657230, rs2048645725	RCV005008492 RCV004795368 RCV005007810 RCV003340494 RCV004796106 RCV002222626 RCV002245883 RCV005014257	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Pathogenic	rs2048557402	RCV001270509	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BAK PLATELET-SPECIFIC ANTIGEN	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 16	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY THROMBOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FETOMATERNAL ALLOIMMUNE THROMBOCYTOPENIA 2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLANZMANN'S THROMBASTHENIA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBASTHENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	BEFREE	31263257		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	9445356		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	17561290, 23941967, 9241754, 9506596		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	8289484, 8807083		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	7536511, 8750618		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	14513050		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	23996800		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	12964043, 29845661, 9684730		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	28301901		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	22315490	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	39267277	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	11719362, 12025897	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	1575209, 17561290		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	18316775		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	29353154		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11877352, 1575209, 21353223		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25639560	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	31377427		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11877352, 1575209, 21353223		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	21353223	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27736274, 30402862		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	27736274	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	30402862	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34462261	Stimulate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	ORPHANET_DG	21454453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	40565512, 8916947	Associate	★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	14987917, 19404517, 8578453, 8916947		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	11694246, 15599663, 17178667, 30118703, 30945812, 31793705		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	15795925	Stimulate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	26201722, 27288406, 30407298, 34474730, 34766575, 36209112, 39267277	Associate	★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	11694246, 15599663, 17178667, 30118703, 30945812, 31793705		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	12707732, 15056669, 9473221		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	12091342, 15681423, 22294727, 25466164, 25728920, 26096001, 27469266, 28948953, 30188609, 30721642, 31851564, 33600779, 33712020, 34066320, 35596611, 36179652, 40126091	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	12487787	Inhibit	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	19082798		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	27153759	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16836568, 9695977		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31759986, 33267867	Associate	★☆☆☆☆ Found in Text Mining only
Canavan Disease	Canavan Disease	BEFREE	23996800		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34469466	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26198048	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	30402862	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	11514957, 20604957	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid Artery Thrombosis	CTD_human_DG	1605806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	20823666	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	18383324, 25748430	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	12586134, 17138951, 22207115, 28275651, 9227689, 9506596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	LHGDN	12586134, 18057877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CTD_human_DG	9445356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	25748430	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29935877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	29935877		★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	31538834	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	23996800		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	22880801		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	20861460		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29209035		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	19118853		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29487701		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28632728		★☆☆☆☆ Found in Text Mining only
Common Carotid Artery Thrombosis	Common Carotid Artery Thrombosis	CTD_human_DG	1605806		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	8611478		★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	30289607		★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	29380037		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28900504, 30485493		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16831169		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10780317, 15227729, 15978110, 17127487, 19562259, 31356179		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	10080474, 22738689, 26556638	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10780317, 15227729, 17127487, 19562259, 29130961, 31356179		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17337041		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10780317, 15227729, 17127487, 19082798, 19562259, 27566695, 31356179, 9589253		★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary Thrombosis	BEFREE	12720308		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21847140		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18983513, 20604957	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20823666, 37522815	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18983513	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20610662		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12827240, 31356179, 9585397		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30345559		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	23450818, 27234618		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	35202881	Associate	★☆☆☆☆ Found in Text Mining only
External Carotid Artery Thrombosis	External Carotid Artery Thrombosis	CTD_human_DG	1605806		★☆☆☆☆ Found in Text Mining only
Fetal and neonatal alloimmune thrombocytopenia	Alloimmune Thrombocytopenia	Orphanet			★☆☆☆☆ Found in Text Mining only
FNAITP	Fetal and neonatal alloimmune thrombocytopenia	BEFREE	18067506		★☆☆☆☆ Found in Text Mining only
FNAITP	Fetal and neonatal alloimmune thrombocytopenia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	17552041		★☆☆☆☆ Found in Text Mining only
Glanzmann thrombasthenia	Glanzmann Thrombasthenia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glanzmann Thrombasthenia, Autosomal Dominant	Glanzmann Thrombasthenia	UNIPROT_DG	21454453, 9834222		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glanzmann Thrombasthenia, Autosomal Dominant	Glanzmann Thrombasthenia	GENOMICS_ENGLAND_DG	24498605, 9834222		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glanzmann Thrombasthenia, Autosomal Dominant	Glanzmann Thrombasthenia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glanzmann Thrombasthenia, Autosomal Dominant	Glanzmann Thrombasthenia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glanzmann Thrombasthenia, Type A	Glanzmann Thrombasthenia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23996800		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23996800		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23996800		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28900504, 30485493		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36761158	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	26468019		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	15599663		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	34766575	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	35054807	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	15099289, 15226188, 19172520, 25734216, 29090484, 29675921, 3006053, 36142161, 40126091	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	22880801		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22880801		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	12953814, 15191945, 27715371, 28771276, 28938496, 29350259, 30130794, 30923461, 30967864, 31414106		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	LHGDN	18316775		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	30289607		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29635104		★☆☆☆☆ Found in Text Mining only
Internal Carotid Artery Thrombosis	Internal Carotid Artery Thrombosis	CTD_human_DG	1605806		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	10582985, 12586134, 22207115, 28004990		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	22880801	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	7526025	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22880801		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	30967864	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15345290, 23460890	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15863212, 29487701		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12717686, 23450818, 36199105	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37729123	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23450818		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	23996800		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16148554		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	19118853		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	8761439		★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	21454453, 29090484, 29380037		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Macrothrombocytopenia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	16836568, 9695977		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30022809		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29935877		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29487701		★☆☆☆☆ Found in Text Mining only
Malpuech facial clefting syndrome	Malpuech facial clefting syndrome	Pubtator	33090654	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15761867		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30289607		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	23558828	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	15473915		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15621828, 2106194, 29353154		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	34964228, 37729123	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	11122160		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	23450818	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	8412331		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10780317, 15227729, 15978110, 16444441, 22329762		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	12073410, 15227729, 20823666, 22329762, 40305362	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	15978110		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	29329538	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	37892152	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	BEFREE	15678278, 19500319		★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14691052, 22102277, 23279927, 31523198		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18538002		★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	BEFREE	28178662		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31523198		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33207279	Stimulate	★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	23996800		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	27153759	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	29353154		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25626177		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	12851693		★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	30289607		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30532530	Stimulate	★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	7539513		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16831169		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	2122902		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	12399140		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23487197		★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	29143464		★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28871391		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	21509332	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28130736		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37179440	Associate	★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	30485493		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	35557984	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	LHGDN	16636497		★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	40126091	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	34766575, 40542663	Associate	★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	10233432, 11091187, 11197210, 11798398, 11877352, 12008952, 12487785, 12609844, 12707732, 12871379, 1317725, 1438206, 15056669, 15099289, 15134555, 15590407, 15748237, 15886807, 16359515, 16463284, 18930954, 19336737, 19408193, 19691478, 20020534, 20819594, 21526886, 22102273, 22190468, 22250950, 22394243, 25373348, 25728920, 25734216, 27469266, 28161816, 28232155, 28888044, 28948953, 29084015, 29385657, 29985398, 30325339, 31088191, 3355897, 7482399, 7529063, 7655575, 7706461, 8282784, 8485050, 8578453, 8781422, 8883261, 9351872, 9473221, 9576183, 9734640, 9798966, 9843164, 9845537, 9920835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	UNIPROT_DG	10607701, 11798398, 12083483, 12181054, 12424194, 12506038, 15099289, 15219201, 17018384, 20020534, 7508443, 7706461, 8282784, 8704171, 9215749, 9473221, 9722314, 9734640, 9763559, 9920835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	LHGDN	12609844, 12871468, 15634267, 15886807, 16879215, 18064323, 18791937, 19172520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	CLINVAR_DG	15099289, 21917754, 22190468, 9722314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	CLINGEN_DG	16103235, 1702098, 20020534, 6213621, 6460044, 7508443, 9473221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	ORPHANET_DG	21917754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	GENOMICS_ENGLAND_DG	24498605, 9834222		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	Pubtator	25607928	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	17577920	Inhibit	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	33599741, 9354672	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	23243278		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	31119735, 33276370	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	11370330, 22070736, 25827233	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	15678278	Stimulate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	10080474, 12073410, 17127487, 26160282, 30721642	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	22329762	Stimulate	★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	29329538		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	29329538		★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	30050468		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	30989560		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	7492773		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 1	Von willebrand disorder	Pubtator	15099289	Associate	★☆☆☆☆ Found in Text Mining only
Von Willebrand disease, platelet type	von Willebrand disorder	BEFREE	7878622		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	23996800		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	30289607		★☆☆☆☆ Found in Text Mining only