GP1BA (glycoprotein Ib platelet subunit alpha)

Gene

• Entrez ID: 2811
• Gene name: Glycoprotein Ib platelet subunit alpha
• Gene symbol: GP1BA
• Synonyms (NCBI Gene): BDPLT1, BDPLT3, BSS, CD42B, CD42b-alpha, DBPLT3, GP1B, GPIbA, GPIbalpha, VWDP
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor com

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6065	C>T	Drug-response, benign	Coding sequence variant, missense variant
rs121908061	G>A	Pathogenic	Coding sequence variant, stop gained
rs121908062	G>T	Pathogenic	Coding sequence variant, missense variant
rs121908063	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908064	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908065	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606849	G>A	Pathogenic	Stop gained, coding sequence variant
rs371226354	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1394634674	T>A	Pathogenic	Missense variant, coding sequence variant
rs1555549041	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597638300	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1597638379	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597638398	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1597638681	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1597638745	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1597638753	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1597639057	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT732376	hsa-miR-10b-5p	Luciferase reporter assay, qRT-PCR	27834869
MIRT732377	hsa-miR-10a-5p	Luciferase reporter assay, qRT-PCR	27834869
MIRT732376	hsa-miR-10b-5p	Luciferase reporter assay, qRT-PCR	27834869
MIRT732377	hsa-miR-10a-5p	Luciferase reporter assay, qRT-PCR	27834869

Transcription factors

Transcription factor	Regulation	Reference
RUNX1	Activation	17725493

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005515	Function	Protein binding	IPI	7721887, 12183630, 12855810, 15039442, 18674540, 18789323, 19828450, 25666618
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15297306
GO:0005886	Component	Plasma membrane	TAS	3353370, 10429193
GO:0007155	Process	Cell adhesion	IDA	9410473
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	7690959
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	3353370
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IMP	21037087
GO:0007597	Process	Blood coagulation, intrinsic pathway	IBA
GO:0007597	Process	Blood coagulation, intrinsic pathway	IPI	10501658
GO:0007597	Process	Blood coagulation, intrinsic pathway	NAS	16293600
GO:0007599	Process	Hemostasis	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0009897	Component	External side of plasma membrane	IDA	19443707
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	HDA	23382103
GO:0009986	Component	Cell surface	IEA
GO:0010572	Process	Positive regulation of platelet activation	IDA	1939645
GO:0010572	Process	Positive regulation of platelet activation	NAS	16293600
GO:0015057	Function	Thrombin-activated receptor activity	TAS	3759960, 12855810
GO:0016020	Component	Membrane	IDA	15297306
GO:0016020	Component	Membrane	IEA
GO:0030168	Process	Platelet activation	TAS	12855810
GO:0030193	Process	Regulation of blood coagulation	TAS	12855810
GO:0035855	Process	Megakaryocyte development	IEA
GO:0035855	Process	Megakaryocyte development	ISO
GO:0035855	Process	Megakaryocyte development	NAS	16293600
GO:0038023	Function	Signaling receptor activity	IBA
GO:0042730	Process	Fibrinolysis	IDA	12855810
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	1939645
GO:0051209	Process	Release of sequestered calcium ion into cytosol	NAS	16293600
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070493	Process	Thrombin-activated receptor signaling pathway	IEA
GO:1990779	Component	Glycoprotein Ib-IX-V complex	IPI	1730602
GO:1990779	Component	Glycoprotein Ib-IX-V complex	NAS	16293600

Other IDs

• MIM: 606672
• HGNC: 4439
• e!Ensembl: ENSG00000185245

Protein

• UniProt ID: P07359
• Protein name: Platelet glycoprotein Ib alpha chain (GP-Ib alpha) (GPIb-alpha) (GPIbA) (Glycoprotein Ibalpha) (Antigen CD42b-alpha) (CD antigen CD42b) [Cleaved into: Glycocalicin]
• Protein function: GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.
• PDB: 1GWB, 1M0Z, 1M10, 1OOK, 1P8V, 1P9A, 1QYY, 1SQ0, 1U0N, 2BP3, 3P72, 3PMH, 4C2A, 4C2B, 4CH2, 4CH8, 4MGX, 4YR6, 6XFQ, 8WE2, 8WF6, 8WFS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01462	LRRNT	19 → 46	Leucine rich repeat N-terminal domain	Family
  PF13855	LRR_8	116 → 174	Leucine rich repeat	Repeat
  PF13855	LRR_8	164 → 222	Leucine rich repeat	Repeat

• Sequence:

  MPLLLLLLLLPSPLHPHPICEVSKVASHLEVNCDKRNLTALPPDLPKDTTILHLSENLLY
  TFSLATLMPYTRLTQLNLDRCELTKLQVDGTLPVLGTLDLSHNQLQSLPLLGQTLPALTV
  LDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLLTPTPKLEKLSLANNNLTELP
  AGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFLHGNPWLCNCEILYFRRWLQDNA
  ENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYPGKGCPTLGDEGDTDLYDYYPEEDT
  EGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASLDSQMPSSLHPTQESTKEQTTFPPRWT
  PNFTLHMESITFSKTPKSTTEPTPSPTTSEPVPEPAPNMTTLEPTPSPTTPEPTSEPAPS
  PTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTPIPTIATSPTILVSATSLITPKSTFLT
  TTKPVSLLESTKKTIPELDQPPKLRGVLQGHLESSRNDPFLHPDFCCLLPLGFYVLGLFW
  LLFASVVLILLLSWVGHVKPQALDSGQGAALTTATQTTHLELQRGRQVTVPRAWLLFLRG
  SLPTFRSSLFLWVRPNGRVGPLVAGRRPSALSQGRGQDLLSTVSIRYSGHSL

• Sequence length: 652

Pathways

KEGG:

ECM-receptor interaction
Platelet activation
Neutrophil extracellular trap formation
Hematopoietic cell lineage

Reactome:

Intrinsic Pathway of Fibrin Clot Formation
GP1b-IX-V activation signalling
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

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	Likely pathogenic; Pathogenic	rs1970365829, rs773663190	RCV001270613 RCV001270584	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bernard Soulier syndrome	Pathogenic; Likely pathogenic	rs781541857, rs2151108738, rs753768072, rs771048666, rs1597640885, rs1375190381, rs759573909, rs2151107940, rs2151107674, rs2507595200, rs774388410, rs121908065, rs267606849, rs2507594247, rs2151107696, rs2507592636, rs2507593310, rs1394634674, rs1555549041, rs763978422	RCV002223070 RCV002226812 RCV002227299 RCV002245371 RCV002245372 RCV002245376 RCV002254237 RCV002254238 RCV002264881 RCV002281017 RCV005254693 RCV005016237 RCV005025004 RCV003313869 RCV005254835 RCV005648298 RCV004587990 RCV002222537 RCV000627049 RCV002290599	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bernard-Soulier syndrome, type A1	Pathogenic; Likely pathogenic	rs121908061, rs121908065, rs267606849, rs2507593916, rs1394634674	RCV000004367 RCV000004373 RCV000004374 RCV003326184 RCV000500510	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bernard-Soulier syndrome, type A2, autosomal dominant	Likely pathogenic; Pathogenic	rs2151107705, rs2151107661, rs767224320, rs771048666, rs1597638300, rs759573909, rs121908063, rs121908065, rs267606849, rs2507593310, rs1394634674, rs1597638598, rs1597638745, rs763978422, rs773663190	RCV002222138 RCV002223112 RCV002223116 RCV003313798 RCV002245409 RCV002280915 RCV000004371 RCV000023565 RCV005025004 RCV005015196 RCV002281099 RCV002222624 RCV002245649 RCV002287470 RCV002246268	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GP1BA-related disorder	Likely pathogenic; Pathogenic	rs2151107705, rs763978422	RCV003408169 RCV003405298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Impaired ristocetin-induced platelet aggregation	Likely pathogenic; Pathogenic	rs121908064	RCV000851873	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Likely pathogenic; Pathogenic	rs121908063, rs1597638300, rs1597638379, rs1597638745	RCV000852073 RCV000851923 RCV000851697 RCV000851798	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonarteritic anterior ischemic optic neuropathy, susceptibility to	Pathogenic; Likely pathogenic	rs759573909, rs121908065, rs267606849, rs2507593310, rs763978422	RCV005025742 RCV005016237 RCV005025004 RCV005015196 RCV005400486	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudo von Willebrand disease	Pathogenic; Likely pathogenic	rs2151108403, rs765474118, rs121908062, rs2151107964, rs759573909, rs121908064, rs121908065, rs267606849, rs2507593310, rs763978422	RCV002223111 RCV002223113 RCV002223114 RCV002245370 RCV005025742 RCV000004370 RCV000004372 RCV005016237 RCV005025004 RCV005015196 RCV005400486	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Likely pathogenic; Pathogenic	rs121908064, rs1597638598, rs1597638681, rs1597638745, rs1597638753, rs1597639057, rs1970365829, rs773663190	RCV000851872 RCV000851640 RCV000851780 RCV000851941 RCV000852137 RCV000851948 RCV001270613 RCV001270584	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BERNARD-SOULIER SYNDROME	—	CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIC-rearranged sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE, PLATELET TYPE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON WILLEBRAND DISEASE, PLATELET-TYPE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	7592671		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	15578075, 7536511		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33942972	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	22315490	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	27936141	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	15346842	Stimulate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	17105818	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	15346842, 17105818		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	22036125		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31467123		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	33079445	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	14530377	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31467123		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	33079445, 34462261	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	BEFREE	30332551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barber Say syndrome	Barber Say Syndrome	GENOMICS_ENGLAND_DG	21357716		★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	10996832, 11222377, 12036872, 12091342, 15550031, 1694864, 17083647, 1730088, 17763149, 18815197, 19067792, 19459130, 21699652, 21933849, 21993687, 2308962, 23402648, 25529050, 26133172, 27291889, 30332551, 33222582, 3416070, 34333846, 34400424, 35055070, 40045897, 7690774, 7949089, 8703016, 8916947, 9116284	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	18791947, 40565512	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	UNIPROT_DG	10089893, 1730088, 7690774, 7819107, 7873390, 9639514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	11776304, 18791947, 19404517, 19448529, 21993687, 22044935, 23300803, 23402648, 23414566, 26044173, 26849716, 29794068, 30332551, 31302646, 31789661, 31826978, 7819107, 8481514, 9163595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	LHGDN	11776304, 12463594, 17763149, 18815197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	GENOMICS_ENGLAND_DG	21357716, 2308962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	ORPHANET_DG	22886561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier syndrome	Bernard Soulier Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BERNARD-SOULIER SYNDROME, TYPE A1	Bernard Soulier Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT	Bernard Soulier Syndrome	UNIPROT_DG	11222377		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT	Bernard Soulier Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT	Bernard Soulier Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	25185554		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	15681423, 17571170, 18815197, 19067792, 21173099, 22431567, 23496210, 26133172, 28449652, 3028536, 3487353, 35596611, 7949089, 9226170	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	19082798		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29195783		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	9042819		★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	GENOMICS_ENGLAND_DG	21357716		★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	29962004		★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	27879288	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18225582	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	33079445	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	11418460, 35055070	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	25063764	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11994555		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	17630485, 18057877		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33942972	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	33942972	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28953486		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10446495, 15269835, 26191334		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10446495, 15269835, 26191334		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	11167769, 11583876	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	14592833, 15121769, 17105818, 22388798, 26191334, 9763562	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10446495, 15269835, 17105818, 19082798, 26191334		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	14592833, 17105818		★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary Thrombosis	BEFREE	11751671		★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary thrombosis	Pubtator	11751671	Associate	★☆☆☆☆ Found in Text Mining only
Deficiency of Platelet Glycoprotein 1b	Deficiency Of Platelet Glycoprotein 1b	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28091589		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28091589		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	17041567		★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	29796594		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30936549		★☆☆☆☆ 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	24067944		★☆☆☆☆ Found in Text Mining only
FNAITP	Fetal and neonatal alloimmune thrombocytopenia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	26830988	Associate	★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	36173017	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	8283897	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28953486		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28953486	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	32877226	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	34011073	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	27936141	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	16723382, 18523449, 30609275		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	12637314, 15978109, 18725999, 18805962, 28064200, 28953486, 30332551, 32541641, 33636040, 34400424, 35596611, 36580664, 36982712, 9116284, 9473222	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	12189024	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	25063764	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	12189024	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	22352330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	22019589, 23143686, 30337485, 30445311		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23460890, 3465723	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21920014, 34011073	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	17041567		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	18225582		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30936549		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	36982712	Inhibit	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	26497387	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	9074430	Associate	★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	21933849, 26849716, 28064200, 30332551		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Macrothrombocytopenia	CLINVAR_DG	31064749		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Macrothrombocytopenia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of liver	Liver Cancer	BEFREE	30936549		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	18225582		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18225582		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	22019589, 24067944		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	LHGDN	18225582		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	18225582	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	28059092		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17041567		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	37489937	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	11159511, 11751671, 12091342, 17105818, 30143348	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	11751671, 11994555, 15269835, 17786291, 30143348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	15269835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	28213360	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31749595		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	21920014	Inhibit	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	17541300	Associate	★☆☆☆☆ Found in Text Mining only
Nonarteritic anterior ischemic optic neuropathy (NAION)	Nonarteritic Anterior Ischemic Optic Neuropathy	BEFREE	14711733, 30616677		★☆☆☆☆ Found in Text Mining only
Nonarteritic anterior ischemic optic neuropathy (NAION)	Nonarteritic Anterior Ischemic Optic Neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Neuropathy Ischemic	Optic neuropathy	Pubtator	30616677	Associate	★☆☆☆☆ Found in Text Mining only
Optic Neuropathy, Ischemic	Optic Neuropathy	LHGDN	14711733		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32479683	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33021140	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	23505434	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	33906312	Associate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	26818901		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	29115885		★☆☆☆☆ Found in Text Mining only
Pseudo-von Willebrand disease	Pseudo-Von Willebrand Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	32877226	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	18787502		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	18787502	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18225582	Associate	★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	21557685		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	26830988	Associate	★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	11159511, 11418460, 25063764	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	29985398, 31826978		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	Pubtator	8916947	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	17577920	Inhibit	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	33906312	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	12637314, 1730088, 18805962, 20955404, 21933849, 25185554	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombophilia	Thrombophilia	Pubtator	18225582	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	11418460, 11583876, 11698306, 33906312, 9763562	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	1730088, 21933849	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	LHGDN	17029210		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	15978109, 28213360, 9763562	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	12080112	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	33906312	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	29216383	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	21244826, 25185554, 27683759, 27889474, 28533135, 29925524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Von Willebrand disease platelet type	Von willebrand disorder	Pubtator	12637314, 14521605, 15039442, 15705799, 19951970, 2052556, 30332551, 31448872, 33222582, 33550910, 7833477, 8384898, 9226170	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 2	Von willebrand disorder	Pubtator	15039442, 16720832, 1672694, 1729889, 18805962, 1912563, 2011604, 20118404, 21244826, 23902764, 26986123, 33550910, 36580664, 8376405, 9473222, 9490688	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand disease type 2M	Von Willebrand Disorder	BEFREE	26345337		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 3	Von willebrand disorder	Pubtator	12637314	Associate	★☆☆☆☆ Found in Text Mining only
Von Willebrand disease, platelet type	von Willebrand disorder	UNIPROT_DG	14521605, 2052556, 8384898, 8486780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Von Willebrand disease, platelet type	von Willebrand disorder	BEFREE	15705799, 18393148, 1911886, 21301777, 22102188, 23014764, 23934752, 24474090, 27683759, 30332551, 30655369, 31448872, 9226170, 9282797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Von Willebrand disease, platelet type	von Willebrand disorder	ORPHANET_DG	2052556		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Von Willebrand disease, platelet type	von Willebrand disorder	GENOMICS_ENGLAND_DG	21357716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Von Willebrand disease, platelet type	von Willebrand disorder	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Von Willebrand disease, platelet type	von Willebrand disorder	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2B	Von Willebrand Disorder	BEFREE	19085651, 26645283, 27683759, 28692141		★☆☆☆☆ Found in Text Mining only