F5 (coagulation factor V)

Gene

• Entrez ID: 2153
• Gene name: Coagulation factor V
• Gene symbol: F5
• Synonyms (NCBI Gene): FVL, PCCF, RPRGL1, THPH2
• Disease Acronyms (UniProt): RPRGL1, THPH2
• Chromosome: 1
• Chromosome location: 1q24.2
• Summary: This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a lig

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6007	T>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs6011	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs6025	C>A,T	Benign, pathogenic, conflicting-interpretations-of-pathogenicity, drug-response, risk-factor	Coding sequence variant, missense variant
rs6034	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs118203905	T>C	Pathogenic	Missense variant, coding sequence variant
rs118203906	C>G	Pathogenic	Missense variant, coding sequence variant
rs118203907	T>C	Pathogenic	Missense variant, coding sequence variant
rs118203908	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs118203909	G>A	Pathogenic	Stop gained, coding sequence variant
rs118203910	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs118203911	A>G	Pathogenic	Missense variant, coding sequence variant
rs118203912	C>A	Pathogenic	Stop gained, coding sequence variant
rs144979314	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs149067268	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201510575	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201790842	G>A	Pathogenic	Coding sequence variant, stop gained
rs386834226	->T	Pathogenic	Coding sequence variant, frameshift variant
rs386834227	C>T	Pathogenic	Coding sequence variant, missense variant
rs386834228	C>T	Pathogenic	Coding sequence variant, missense variant
rs747006175	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs754104059	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs754982088	->T	Pathogenic	Frameshift variant, coding sequence variant
rs757917115	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs757953549	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs762646464	T>C,G	Likely-pathogenic	Splice acceptor variant
rs765982916	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs865947251	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs905672088	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1571574574	GTTGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571575520	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571577365	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571578995	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571581722	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1571586431	T>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020806	hsa-miR-155-5p	Proteomics	18668040
MIRT441857	hsa-miR-323a-3p	PAR-CLIP	22100165
MIRT441856	hsa-miR-634	PAR-CLIP	22100165
MIRT441855	hsa-miR-5585-5p	PAR-CLIP	22100165
MIRT441857	hsa-miR-323a-3p	PAR-CLIP	22100165
MIRT441856	hsa-miR-634	PAR-CLIP	22100165
MIRT441855	hsa-miR-5585-5p	PAR-CLIP	22100165
MIRT441857	hsa-miR-323a-3p	PAR-CLIP	22100165
MIRT441856	hsa-miR-634	PAR-CLIP	22100165
MIRT441855	hsa-miR-5585-5p	PAR-CLIP	22100165
MIRT441857	hsa-miR-323a-3p	PAR-CLIP	22100165
MIRT441856	hsa-miR-634	PAR-CLIP	22100165
MIRT441855	hsa-miR-5585-5p	PAR-CLIP	22100165
MIRT974596	hsa-miR-1321	CLIP-seq
MIRT974597	hsa-miR-147	CLIP-seq
MIRT974598	hsa-miR-184	CLIP-seq
MIRT974599	hsa-miR-1910	CLIP-seq
MIRT974600	hsa-miR-1912	CLIP-seq
MIRT974601	hsa-miR-1915	CLIP-seq
MIRT974602	hsa-miR-199a-3p	CLIP-seq
MIRT974603	hsa-miR-199b-3p	CLIP-seq
MIRT974604	hsa-miR-2355-5p	CLIP-seq
MIRT974605	hsa-miR-3123	CLIP-seq
MIRT974606	hsa-miR-3129-5p	CLIP-seq
MIRT974607	hsa-miR-3130-5p	CLIP-seq
MIRT974608	hsa-miR-3153	CLIP-seq
MIRT974609	hsa-miR-3162-5p	CLIP-seq
MIRT974610	hsa-miR-335	CLIP-seq
MIRT974611	hsa-miR-3691-3p	CLIP-seq
MIRT974612	hsa-miR-374a	CLIP-seq
MIRT974613	hsa-miR-374b	CLIP-seq
MIRT974614	hsa-miR-3911	CLIP-seq
MIRT974615	hsa-miR-3925-5p	CLIP-seq
MIRT974616	hsa-miR-3942-3p	CLIP-seq
MIRT974617	hsa-miR-4328	CLIP-seq
MIRT974618	hsa-miR-4433	CLIP-seq
MIRT974619	hsa-miR-4459	CLIP-seq
MIRT974620	hsa-miR-4480	CLIP-seq
MIRT974621	hsa-miR-4482	CLIP-seq
MIRT974622	hsa-miR-4528	CLIP-seq
MIRT974623	hsa-miR-4699-3p	CLIP-seq
MIRT974624	hsa-miR-4703-3p	CLIP-seq
MIRT974625	hsa-miR-4716-5p	CLIP-seq
MIRT974626	hsa-miR-4722-3p	CLIP-seq
MIRT974627	hsa-miR-4739	CLIP-seq
MIRT974628	hsa-miR-4756-5p	CLIP-seq
MIRT974629	hsa-miR-4759	CLIP-seq
MIRT974630	hsa-miR-4768-3p	CLIP-seq
MIRT974631	hsa-miR-4775	CLIP-seq
MIRT974632	hsa-miR-4786-5p	CLIP-seq
MIRT974633	hsa-miR-587	CLIP-seq
MIRT974634	hsa-miR-644	CLIP-seq
MIRT974635	hsa-miR-657	CLIP-seq
MIRT974636	hsa-miR-759	CLIP-seq
MIRT974597	hsa-miR-147	CLIP-seq
MIRT974600	hsa-miR-1912	CLIP-seq
MIRT974602	hsa-miR-199a-3p	CLIP-seq
MIRT974603	hsa-miR-199b-3p	CLIP-seq
MIRT974606	hsa-miR-3129-5p	CLIP-seq
MIRT974607	hsa-miR-3130-5p	CLIP-seq
MIRT974614	hsa-miR-3911	CLIP-seq
MIRT1988780	hsa-miR-4251	CLIP-seq
MIRT1988781	hsa-miR-4311	CLIP-seq
MIRT974617	hsa-miR-4328	CLIP-seq
MIRT1988782	hsa-miR-4329	CLIP-seq
MIRT974618	hsa-miR-4433	CLIP-seq
MIRT1988783	hsa-miR-4445	CLIP-seq
MIRT974619	hsa-miR-4459	CLIP-seq
MIRT974621	hsa-miR-4482	CLIP-seq
MIRT1988784	hsa-miR-4527	CLIP-seq
MIRT974622	hsa-miR-4528	CLIP-seq
MIRT974623	hsa-miR-4699-3p	CLIP-seq
MIRT974624	hsa-miR-4703-3p	CLIP-seq
MIRT974625	hsa-miR-4716-5p	CLIP-seq
MIRT974630	hsa-miR-4768-3p	CLIP-seq
MIRT1988785	hsa-miR-4768-5p	CLIP-seq
MIRT974631	hsa-miR-4775	CLIP-seq
MIRT974633	hsa-miR-587	CLIP-seq
MIRT974634	hsa-miR-644	CLIP-seq
MIRT974635	hsa-miR-657	CLIP-seq
MIRT974600	hsa-miR-1912	CLIP-seq
MIRT974602	hsa-miR-199a-3p	CLIP-seq
MIRT974603	hsa-miR-199b-3p	CLIP-seq
MIRT974606	hsa-miR-3129-5p	CLIP-seq
MIRT974607	hsa-miR-3130-5p	CLIP-seq
MIRT974617	hsa-miR-4328	CLIP-seq
MIRT974618	hsa-miR-4433	CLIP-seq
MIRT974619	hsa-miR-4459	CLIP-seq
MIRT974621	hsa-miR-4482	CLIP-seq
MIRT974622	hsa-miR-4528	CLIP-seq
MIRT974623	hsa-miR-4699-3p	CLIP-seq
MIRT974625	hsa-miR-4716-5p	CLIP-seq
MIRT974630	hsa-miR-4768-3p	CLIP-seq
MIRT974633	hsa-miR-587	CLIP-seq
MIRT974635	hsa-miR-657	CLIP-seq
MIRT2449049	hsa-miR-1287	CLIP-seq
MIRT2449050	hsa-miR-3135b	CLIP-seq
MIRT2449051	hsa-miR-3185	CLIP-seq
MIRT2449052	hsa-miR-7	CLIP-seq
MIRT974605	hsa-miR-3123	CLIP-seq
MIRT974615	hsa-miR-3925-5p	CLIP-seq
MIRT974616	hsa-miR-3942-3p	CLIP-seq
MIRT974636	hsa-miR-759	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0002576	Process	Platelet degranulation	TAS
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	2844223, 6323392, 9556620
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0007596	Process	Blood coagulation	IBA	21873635
GO:0007596	Process	Blood coagulation	TAS
GO:0008015	Process	Blood circulation	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0031091	Component	Platelet alpha granule	IBA	21873635
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0048208	Process	COPII vesicle coating	TAS
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 612309
• HGNC: 3542
• e!Ensembl: ENSG00000198734

Protein

• UniProt ID: P12259
• Protein name: Coagulation factor V (Activated protein C cofactor) (Proaccelerin, labile factor) [Cleaved into: Coagulation factor V heavy chain; Coagulation factor V light chain]
• Protein function: Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.
• PDB: 1CZS, 1CZT, 1CZV, 3P6Z, 3P70, 3S9C, 7KVE, 7KVF, 7KXY, 7TPP, 8FDG, 8TN9, 9CTH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07732	Cu-oxidase_3	65 → 197	Multicopper oxidase	Domain
  PF06049	LSPR	1077 → 1085	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1185 → 1193	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1194 → 1202	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1203 → 1211	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1230 → 1238	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1239 → 1247	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1257 → 1265	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1275 → 1283	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1293 → 1301	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1302 → 1310	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1320 → 1328	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1338 → 1346	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1356 → 1364	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1374 → 1382	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1383 → 1391	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1410 → 1418	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1428 → 1436	Coagulation Factor V LSPD Repeat	Repeat
  PF06049	LSPR	1437 → 1445	Coagulation Factor V LSPD Repeat	Repeat
  PF07732	Cu-oxidase_3	1641 → 1753	Multicopper oxidase	Domain
  PF00754	F5_F8_type_C	1922 → 2058	F5/8 type C domain	Domain
  PF00754	F5_F8_type_C	2081 → 2218	F5/8 type C domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Plasma.
• Sequence:

  MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTS
  FKKIVYREYEPYFKKEKPQSTISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYS
  KLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGPTHDDPPCLTHIYYSHENLIE
  DFNSGLIGPLLICKKGTLTEGGTQKTFDKQIVLLFAVFDESKSWSQSSSLMYTVNGYVNG
  TMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTV
  GPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVI
  WDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYEDESFTKHTVNPNMKEDGILG
  PIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGET
  YTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAA
  DIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTL
  GFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGT
  WMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPESTVMATRKMHDRLEPEDEES
  DADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTDIIVGSNYSSP
  SNISKFTVNNLAEPQKAPSHQQATTAGSPLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPL
  QPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGS
  PSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQ
  DTDEDTAVNNWLISPQNASRAWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRL
  KKSQFLIKTRKKKKEKHTHHAPLSPRTFHPLRSEAYNTFSERRLKHSLVLHKSNETSLPT
  DLNQTLPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQTVPPEEHYQTFPIQDPDQMHS
  TSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELS
  QTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSP
  ELSQTNLSPALGQMPLSPDLSHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMP
  ISPDLSHTTLSLDFSQTNLSPELSQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELS
  QTNLSPDLSEMPLFADLSQIPLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSP
  DISDTTLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLND
  TFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINS
  SRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRETDIEDSDDIPEDTTYKKVVF
  RKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKS
  SEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDI
  HSGLIGPLLICQKGILHKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMK
  KSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLG
  VWPLLPGSFKTLEMKASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISD
  SQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQG
  AKHYLKSCYTTEFYVAYSSNQINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARY
  IRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFR
  ARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQ
  GVEWKPYRLKSSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFG
  CDIY

• Sequence length: 2224

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Platelet degranulation
Common Pathway of Fibrin Clot Formation
COPII-mediated vesicle transport
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Cargo concentration in the ER
Post-translational protein phosphorylation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Activated protein c resistance	Activated Protein C Resistance, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)	rs118203912, rs118203911, rs1571577365	23188048, 26649017, 10666427, 7673148, 23900608, 11110695, 29179580, 3286010, 24523236, 16268462, 9616155, 21116184, 10391209, 28889200, 11858490, 10942390, 27090446, 16710414, 14617013, 9454742, 19486170, 7734374, 11583312, 7911872, 8164741, 11435304, 14695241
Bleeding disorder	Bleeding Disorder, East Texas Type, East Texas bleeding disorder	rs121918444, rs398122372, rs398122373, rs773148506, rs1064797083, rs1064797085, rs1064797087, rs761749948	23979162
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	25200834
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Congenital factor v deficiency	Congenital factor V deficiency	rs118203907, rs757953549, rs754982088, rs757917115, rs765982916, rs1571575520
Factor v deficiency	Factor V deficiency	rs2101818393, rs773569662, rs2101829195, rs118203907, rs118203908, rs118203909, rs2101810760, rs118203910, rs387906286, rs387906287, rs1253799389, rs1294221028, rs1558461545, rs137852913, rs137852914, rs78289603, rs757953549, rs201790842, rs1571574574, rs765982916, rs1571575520, rs1571577365, rs1571578995, rs762646464, rs905672088, rs1572611822
Multiple polyposis syndrome	Adenomatous Polyposis Coli, Polyposis, Adenomatous Intestinal, Familial Intestinal Polyposis	rs137854568, rs137854569, rs387906231, rs137854574, rs137854575, rs387906234, rs587776520, rs387906236, rs137854580, rs387906239, rs397515732, rs397515733, rs397515734, rs397515735, rs587779352, rs587779353, rs398123118, rs587779780, rs587779783, rs587779794, rs62619935, rs587781330, rs587781392, rs587781694, rs587782557, rs587783035, rs727504420, rs376213437, rs730882135, rs786201291, rs786201856, rs775126020, rs768922431, rs121913332, rs863225362, rs863225365, rs863225371, rs863225319, rs863225347, rs756912930, rs876659517, rs754122018, rs876659280, rs121913331, rs758987855, rs863224281, rs879254032, rs879254283, rs886039507, rs1060503323, rs1060503366, rs1064793020, rs1064793535, rs1114167545, rs1114167551, rs1114167571, rs1554071602, rs1554072560, rs1554074738, rs1554079988, rs1554081906, rs1554084508, rs1554085102, rs1554085307, rs1554085382, rs1554085817, rs1060503288, rs1392778905, rs1554086084, rs1554086134, rs1554086138, rs1554087515, rs774847203, rs1554084454, rs1114167599, rs1554086340, rs1554084403, rs1554085084, rs777848503, rs1554086262, rs1554083981, rs1554084650, rs1064794163, rs1554086923, rs1554086823, rs1554085303, rs1554084159, rs1554081749, rs1554084512, rs1561576666, rs1561545947, rs1561588017, rs1561589459, rs1561598017, rs1561569606, rs1580685528, rs1580634573, rs1580649018, rs1561597691, rs79630786	25200834
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Thrombophilia	Thrombophilia, Thrombophilia, hereditary	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916	9136971

Unknown
Disease term	Disease name	Evidence	References	Source
Budd-chiari syndrome	Budd-Chiari Syndrome, Budd-Chiari syndrome		24755609, 26238013	ClinVar
Cerebral infarction	Cerebral Infarction			ClinVar
Cirrhosis	Cirrhosis			ClinVar
Ischemic stroke	Ischemic stroke		26908601	ClinVar
Myocardial infarction	Myocardial Infarction		9531249	ClinVar
Activated Protein C Resistance	thrombophilia due to activated protein C resistance			GenCC
Ischemic Stroke	Ischemic Stroke			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Hypertension	Hypertension			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	17454173
Abortion Habitual	Associate	12447960, 16194196, 16753154, 23683262, 24484533, 26060483, 27090446, 28819944, 36526982, 9207398
Abortion Habitual	Stimulate	36554381
Abortion Spontaneous	Stimulate	11821094, 36554381
Abortion Spontaneous	Associate	12447960, 15618258, 16138341, 16194196, 17439630, 20002540, 23256575, 25153695, 34360543, 38057822
Abruptio Placentae	Stimulate	21985600
Abruptio Placentae	Associate	24645228
Activated Protein C Resistance	Associate	10233368, 10726047, 10928623, 10936863, 10980068, 15257712, 18702875, 20002000, 21564075, 36695379, 7780138, 7989612, 8049422, 8573079, 9183305, 9208999, 9308555, 9375735
Acute Coronary Syndrome	Associate	27581673
Adenocarcinoma	Associate	22247499
Adenomatous Polyposis Coli	Associate	9544982
Amaurosis Fugax	Associate	16015408, 18796459
Anemia Sickle Cell	Associate	16906320, 22084413, 23869056, 9723576
Angioedema	Associate	32496628
Antiphospholipid Syndrome	Associate	17895510, 20439118, 21188340, 29959308, 31101755, 36554381
Antithrombin deficiency type 2	Associate	30608445
Antithrombin III Deficiency	Associate	34207366, 9208999
Aortic Aneurysm Familial Abdominal 1	Associate	19861970
Arterial Occlusive Diseases	Associate	10360908, 11472046, 35123430
Arterial Occlusive Diseases	Stimulate	9786256
Arthrogryposis multiplex congenita distal type 2	Associate	10726007
Asthma	Associate	39531229
Atherosclerosis	Associate	17439630
Atrial Fibrillation	Associate	12906030, 28390428
Atrial myxoma familial	Associate	27581673
Behcet Syndrome	Associate	12780409, 15077257
beta Thalassemia	Associate	18480081
Blood Coagulation Disorders	Associate	10916083, 11435304, 11532095, 17456629, 19318242, 23799222, 25119470, 30842582, 31271701, 32496628, 34575869, 36991043, 38382738, 39846164, 7877648
Blood Coagulation Disorders Inherited	Stimulate	19318242
Blood Coagulation Disorders Inherited	Associate	34575869, 8652809
Blood Coagulation Disorders Inherited	Inhibit	37321256
Blood Platelet Disorders	Associate	12361206, 8652809
Brain Infarction	Associate	10576642, 18382986
Brain Ischemia	Associate	32118374
Breast Neoplasms	Associate	15033664, 23803051, 25407022, 29766637, 33457104, 38382738, 40725392
Budd Chiari Syndrome	Associate	10071347, 10980068, 11001884, 23406614, 23799222, 29771426, 9245936, 9457968, 9734642
Budd Chiari Syndrome	Stimulate	11156651, 22180713
Carcinoma Hepatocellular	Associate	11156651
Cardiovascular Diseases	Associate	15237001, 17677000, 25887618
Carotid Artery Diseases	Associate	15748240, 36142883
Carotid Artery Thrombosis	Associate	15240970, 16275464, 19353312, 22707612, 27581673, 7877648
Central Nervous System Diseases	Associate	8813095
Cerebral Infarction	Associate	10572079, 11697722, 15678277, 15946211, 17456629, 18550588, 18796459, 22100829, 32118374, 34087973, 34241942, 9371534, 9723576
Cerebral Infarction	Inhibit	33834859
Cerebral Intraventricular Hemorrhage	Associate	21659962, 28578513
Cerebral Palsy	Associate	10576642, 16359589, 22098125
Cerebrovascular Disorders	Associate	9052561
Choroidal Effusions	Associate	31566926
Cognitive Dysfunction	Stimulate	12013200
Colitis	Associate	37142231
Colitis Ulcerative	Associate	19439852, 34183315
Collagen Diseases	Associate	30205811
Colorectal Neoplasms	Associate	37142231
Congenital Abnormalities	Associate	31793409
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19668081
Congenital Hereditary and Neonatal Diseases and Abnormalities	Stimulate	28259966
Congenital Plasminogen Deficiency	Associate	10726047
Coronary Artery Disease	Associate	18452260, 19353312, 20626623, 28086795, 29179580, 30874510, 32525847
Coronary Disease	Associate	19415820, 22388798
Cough	Associate	33157953
COVID 19	Associate	35415903, 35980616, 37142231
Coxa Magna	Associate	18350352, 25119470
Craniocerebral Trauma	Associate	11471205
Critical Illness	Associate	28801724
Crohn Disease	Associate	12873183, 21188340, 24901824
Death	Associate	12296757, 9058717
Diabetes Mellitus	Associate	19558686
Diabetes Mellitus Type 2	Associate	16138347, 19558686, 19755774, 33430853
Diabetic Angiopathies	Associate	16906320, 19558686, 25887618
Diabetic Nephropathies	Associate	30988245
Diabetic Neuropathies	Associate	33430853
Disease	Associate	20492466, 9786256
Disease Resistance	Associate	9208999
Embolic Stroke	Stimulate	19660184
Embolism	Associate	18796459, 9052561
Endocarditis	Associate	28801724
Endometriosis	Associate	28600052
Epilepsy	Associate	18382986
Epilepsy Tonic Clonic	Associate	36710196
Eye Diseases	Stimulate	15077257
Eye Diseases	Associate	15077257
Factor V Deficiency	Associate	11167768, 11435304, 11564076, 11929802, 12871325, 12871359, 15961511, 18310546, 19318242, 19861681, 20501981, 25041532, 32000417, 33605529, 34575869, 35628611, 35946468, 7655011, 7780127, 9375735
Factor V Deficiency	Inhibit	32000417, 35946468, 37714176
Factors VIII IX And XI Combined Deficiency of	Associate	11781258
Familial antiphospholipid syndrome	Associate	10071347, 10467279, 10792297, 21406411, 29851809
Familial Mediterranean Fever	Associate	18496034
Familial Multiple Coagulation Factor Deficiency I	Inhibit	20142513, 9245995
Fatty Liver Alcoholic	Associate	30205811
Fetal Death	Associate	19909951, 9207398
Fetal Diseases	Stimulate	16753154
Fetal Diseases	Associate	8592550
Fetal Distress	Associate	10634844
Fetal Growth Retardation	Associate	30313110
Fibrosis	Associate	12865283, 36355755
Fibrosis	Stimulate	26785615
Foramen Ovale Patent	Associate	12511746, 14966073
Fuchs' Endothelial Dystrophy	Associate	36773096
Gastrointestinal Hemorrhage	Associate	12871359, 23799222
Genetic Diseases Inborn	Associate	10556190, 21786330, 9625586
Genital Diseases Female	Associate	18591179
Genital Neoplasms Female	Associate	18591179
Glomerulonephritis IGA	Associate	11532095
Glomerulonephritis Membranous	Associate	21500982
Hashimoto Disease	Associate	12871359
Hearing Loss Sudden	Associate	18160602
Heart Septal Defects Atrial	Associate	14966073, 21983771
HELLP Syndrome	Associate	10877984, 12519104
HELLP Syndrome	Stimulate	18568463
Hematoma	Associate	34857025
Hemochromatosis	Associate	10674036
Hemoglobin SC Disease	Associate	16906320
Hemolysis	Associate	10877984
Hemophilia A	Associate	17606451, 17659055, 18184865, 18603540, 30125997, 8695835, 9371534, 9376587
Hemorrhage	Associate	11929802, 12871359, 12881304, 15748243, 19826759, 19861681, 19959486, 21150787, 21320286, 22098125, 23979154, 23979162, 25041532, 25634741, 30819996, 32000417, 34847292, 34857025, 35946468, 36710196, 37714176, 39365993, 9376587
Hemorrhage	Inhibit	17606451, 32000417
Hemorrhagic Disorders	Associate	1281831, 25634741, 39365993
Hemostatic Disorders	Associate	29334895
Hepatitis C	Associate	25357225
Hepatitis C Chronic	Associate	12865283, 16937480
Homocysteinemia	Associate	17985012, 18796459
Homocystinuria	Associate	8592550, 9490685
Hydrocephalus	Associate	16184507
Hyperbilirubinemia Shunt	Associate	16237690
Hyperhomocysteinemia	Associate	12013200, 15869590, 17442092
Hypertension	Associate	25973747
Hypertension Portal	Associate	21188340
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	15077257
Hypopituitarism	Associate	27425780
Hypoprothrombinemias	Associate	31793409
Hypoxia	Associate	20121426
Hypoxia Ischemia Brain	Associate	26400660
Immunologic Deficiency Syndromes	Inhibit	10942390, 21320286
Immunologic Deficiency Syndromes	Associate	10942390, 15975136, 30125997, 37321256
Immunologic Deficiency Syndromes	Stimulate	36991043, 8652809, 9217178
Infant Newborn Diseases	Associate	9568926
Infarction	Associate	10634551, 25887618, 8592550, 9371534
Infarction Anterior Cerebral Artery	Stimulate	28301901
Infections	Associate	16138355
Infertility	Associate	19464002, 27855570, 32399796
Inflammation	Stimulate	21048961
Inflammation	Associate	33457104
Inflammatory Bowel Diseases	Associate	16249980, 25878173
Intermittent Claudication	Associate	18980946
Intracranial Embolism	Associate	23675803, 34183315, 9462312
Intracranial Hemorrhages	Inhibit	11342420
Intracranial Hemorrhages	Associate	21320286, 9159044
Intracranial Thrombosis	Associate	10861823, 17456624, 21500982, 22048515, 31025572, 37175682
Ischemic Attack Transient	Associate	18796459, 30637129, 34241942
Joint Diseases	Associate	31566926
Kidney Diseases	Associate	16760910, 30001695
Kidney Failure Chronic	Associate	19520684
Klinefelter Syndrome	Associate	19755774
Lateral Sinus Thrombosis	Associate	18796457, 29556650
Leg Injuries	Associate	18195191
Leg Ulcer	Associate	12013200
Lesch Nyhan Syndrome	Associate	30001695
Leukemia	Associate	21873357
Leukemia Lymphocytic Chronic B Cell	Associate	20705761
Livedoid Vasculopathy	Associate	17442092, 23268168
Liver Cirrhosis	Associate	26785615
Liver Cirrhosis Biliary	Associate	10706737
Liver Diseases	Associate	12598443, 12865283
Low Back Pain	Associate	22327823
Lown Ganong Levine Syndrome	Associate	15150075
Lung Diseases	Associate	11472046
Lung Neoplasms	Associate	24175756
Lupus Erythematosus Systemic	Associate	15026314, 15247980
Malignant Atrophic Papulosis	Associate	16710585
Massive Hepatic Necrosis	Associate	11156651
Melanoma	Associate	7604028
Membranous Obstruction of Inferior Vena Cava	Associate	11156651, 12270010
Meningitis Pneumococcal	Associate	28801724
Mental Disorders	Associate	31305418
Mesenteric Ischemia	Associate	24282370, 30756343
Metatarsus Varus	Associate	22531482
Migraine Disorders	Stimulate	22664050
Migraine Disorders	Associate	22664050
Mouth Neoplasms	Associate	16080493
Multiple Sclerosis	Associate	34561786
Myeloproliferative Disorders	Associate	10071347
Myeloproliferative Disorders	Stimulate	11891805
Myocardial Infarction	Associate	10090925, 10987590, 18702875, 20332812, 20626623, 21958997, 22750768, 23171482, 23382263, 23799222, 27059467, 33470184, 33998271, 7877648, 9052561, 9108400
Myocardial Infarction	Stimulate	25693916
Myocardial Ischemia	Associate	10583928, 17456629
Myotonic Dystrophy	Associate	10726006
Neoplasms	Associate	15667542, 17343613, 18591179, 19713246, 25381723, 27479824, 29766637, 29775482, 30022069, 31101755, 32190689, 32671915, 33457104, 37536569, 38382738, 9625586
Neoplastic Syndromes Hereditary	Associate	15140126, 21500982, 21786330, 8592550, 9518910
Neural Tube Defects	Stimulate	27511516
Neurodevelopmental Disorders	Associate	29851773
Neurofibromatosis 1	Associate	29372092
Obesity	Associate	17897305, 20148880
Obstetric Labor Complications	Associate	24645228, 9878639
Optic Neuropathy Ischemic	Associate	18796459, 35123430
Osteonecrosis	Stimulate	18350351
Osteonecrosis	Associate	22696591
Osteoporosis	Associate	15237001
Ovarian Hyperstimulation Syndrome	Associate	9457950
Paroxysmal ventricular fibrillation	Associate	27759448
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	11891805
Pediatric Obesity	Associate	22098125
Peripheral Arterial Disease	Associate	15304039, 15886665, 31285632, 32633259, 32847391
Peripheral Arterial Occlusive Disease 1	Associate	23533563
Peripheral Vascular Diseases	Associate	9786256
Plaque Atherosclerotic	Associate	31875420
Plasminogen Deficiency Type I	Associate	9544982
Platelet Factor 3 Deficiency	Associate	8652809
Pneumococcal Infections	Associate	28801724
Pneumonia	Associate	25887618
Polycystic Ovary Syndrome	Associate	17454173
Porencephaly	Associate	9577282
Postthrombotic Syndrome	Associate	12013200
Pre Eclampsia	Associate	12519104, 20121426, 20214832, 24645228
Preeclamptic toxemia	Associate	10877984
Pregnancy Complications	Associate	22642978
Premature Birth	Associate	20946152
Priapism	Associate	35485519
Prostatic Neoplasms	Associate	14744788, 16982673, 38179769
Protein Aggregation Pathological	Associate	8652809
Protein C Deficiency	Associate	10029588, 12555209, 12592605, 7562967, 7795227, 8704244
Protein C Deficiency	Inhibit	29771426
Protein S Deficiency	Associate	15978097, 18382986, 40419135, 8781426, 8813095
Pseudotumor Cerebri	Associate	16244770, 17454173
Pulmonary Disease Chronic Obstructive	Associate	21624643
Pulmonary Embolism	Associate	10775028, 10930988, 12100159, 14704505, 17067362, 18796457, 19520679, 19755774, 20007142, 23675803, 24793151, 31305418, 33103541, 33128086, 34231814, 36089832, 7877648, 9746774
Pulmonary Embolism	Stimulate	27729560, 40105557
Pulmonary Fibrosis	Associate	25887618
Pulmonary Heart Disease	Associate	25887618
Purpura Fulminans	Associate	16138355
Purpura Thrombotic Thrombocytopenic	Associate	26247037
Renal Artery Obstruction	Associate	17456629
Renal Insufficiency	Associate	19464002, 22281051, 27855570
Retinal Artery Occlusion	Associate	12780409, 35123430
Retinal Diseases	Associate	16015408
Retinal Vasculitis	Associate	15077257
Retinal Vein Occlusion	Associate	10071347, 10634550, 11001884, 11122096, 12100159, 12598443, 12879433, 15033664, 16055356, 16244763, 16245227, 17911197, 19688103, 23406614, 24282370, 24569626, 26423996, 31831825, 35123430, 9245936, 9734642, 9746774
Retinal Vein Occlusion	Stimulate	18160589, 21849479
Sagittal Sinus Thrombosis	Associate	18382986
Sarcoidosis	Associate	19420821
Seminoma	Associate	25887618
Sepsis	Associate	16444434, 28801724
Severe combined immunodeficiency due to adenosine deaminase deficiency	Stimulate	29333082
Sinus Thrombosis Intracranial	Associate	12873183, 14521455, 19439852, 19703820, 36356579
Sinus Thrombosis Intracranial	Stimulate	19703820
ST Elevation Myocardial Infarction	Associate	33998271
Stenosis Pulmonary Vein	Associate	11441986
Stillbirth	Associate	21945103
Stillbirth	Stimulate	21985600
Stomach Neoplasms	Associate	16830369
Stroke	Stimulate	12699865, 15678277
Stroke	Associate	12699865, 15247980, 24090469, 30637129, 32118374, 7877648, 9568926
Subarachnoid Hemorrhage	Associate	19826759
Superior Vena Cava Syndrome	Associate	11156651, 29851773
Takayasu Arteritis	Associate	10072118, 34523592
Tetralogy of Fallot	Associate	18550588
Thoracic Outlet Syndrome	Associate	19244272
Thrombasthenia	Associate	30819996
Thrombocythemia Essential	Associate	19105233
Thromboembolism	Associate	11071628, 11151062, 12469051, 15247984, 15638861, 15815078, 16432849, 16758522, 17408404, 17911197, 19022798, 19414836, 19715531, 19861970, 20554945, 24645228, 25119470, 27581673, 9010145
Thromboembolism	Stimulate	12469051
Thrombophilia	Associate	10071347, 10460623, 10634551, 10942390, 10980068, 11426488, 11529860, 11564076, 11849222, 12221665, 12555209, 15009459, 15497023, 15678268, 15748240, 15975136, 16015408, 16184507, 16245227, 16359589, 16607693, 16937480, 17454173, 17456626, 17669671, 18191809, 18796457, 19414836, 19520681, 19688103, 19703820, 19715531, 19909951, 19939360, 20368522, 20626623, 22118560, 22664050, 22696591, 23109751, 23256575, 23321260, 23945127, 24025446, 25153695, 27525841, 27855570, 28259966, 30819996, 31305418, 32525847, 33470184, 33605529, 34360543, 35112923, 36356579, 39846164, 40005435, 40419135, 7795227, 8049422, 8573079, 8980255, 9457968, 9577282, 9625586
Thrombophilia	Stimulate	12563199, 16520725, 18796457, 19117968, 23940063, 24246297, 26477821, 27096232, 27613196, 30001695, 31263845, 35023653, 35112923
Thrombophilia due to Activated Protein C Resistance	Associate	15140126, 19022796, 20501981, 24335247, 9544982
Thrombophilia hereditary	Associate	10519989, 15975136, 18796459, 31305418, 34207366, 36695379, 9136971, 9746774
Thrombophlebitis	Associate	25837651
Thrombosis	Associate	10233369, 10233438, 10440914, 10519989, 10576642, 10666427, 10726006, 10726007, 10726047, 10775028, 10942390, 11054086, 11091190, 11122096, 11151062, 11156651, 11342420, 11343382, 11529860, 11891805, 12044337, 12100159, 12296757, 12361206, 12447960, 12873183, 12906030, 14617013, 14695241, 14976057, 15009459, 15815078, 16444389, 16680739, 16933962, 17456626, 17677000, 17911197, 18702875, 18796459, 19022796, 19105233, 19520684, 19715531, 20010469, 20218141, 20554945, 21406411, 21500982, 21659542, 21869933, 21955693, 21958997, 22589460, 22707612, 23364161, 24523236, 24723678, 25049279, 25713624, 25887618, 26102090, 29775482, 29884816, 30001695, 30168256, 31285632, 31314700, 32496628, 33457104, 34183315, 34523592, 36980916, 38498041, 39349608, 40691374, 7780138, 7888671, 7968118, 7989612, 8049422, 8592550, 8705907, 8705909, 8813095, 9052561, 9183305, 9192757, 9371534, 9406051, 9423813, 9454741, 9454742, 9457950, 9457968, 9526216, 9864017, 9878639
Thrombosis	Stimulate	10477778, 11167765, 21073356, 23742623, 23940063, 25804613
Thrombotic Microangiopathies	Associate	11781222, 19448164
Tomaculous neuropathy	Associate	11781258, 25634741, 31793409
Tooth Loss	Associate	17895510
Upper Extremity Deep Vein Thrombosis	Associate	11190909
Upper Extremity Deep Vein Thrombosis	Stimulate	15262837
Urachal Cyst	Associate	21320286
Uveitis Posterior	Associate	15077257
Varicose Ulcer	Associate	12570104, 16889993, 21500982
Varicose Veins	Associate	25976278
Venous Thromboembolism	Associate	10521103, 10556190, 10666427, 10726047, 10987590, 11054086, 11071624, 11071628, 11091190, 11159508, 11167765, 11380431, 11471205, 11529860, 11849222, 11877263, 11929758, 11999002, 12221665, 12752105, 14531916, 14966073, 14996674, 15009459, 15670037, 15815078, 15869590, 15886665, 15961511, 15978097, 15978104, 16115298, 16444389, 16484835, 16758522, 16889993, 17067362, 17439630, 17895505, 17985012, 18387978, 18796457, 18983482, 19278955, 19520679, 19552680, 19755774, 20148880, 20177282, 20332812, 21078611, 21150787, 21212568, 21659542, 21671893, 21873357, 22044617, 22531482, 22581447, 22628232, 23382263, 23675803, 23742623, 23913469, 24041341, 24219332, 24335247, 25341889, 25381723, 25472531, 26304686, 26536460, 26597668, 26915609, 27479824, 27613196, 28750087, 29094466, 29775482, 30297698, 30756343, 30773804, 31074822, 31314700, 33470184, 34200207, 34970867, 35112923, 37536569, 37734636, 38225166, 38498041, 39365993, 39846164, 40141044, 8704244, 9010145, 9269773, 9531346, 9746774, 9858248, 9920839
Venous Thromboembolism	Stimulate	10666427, 12570104, 19117968, 20031567, 33174335
Venous Thrombosis	Associate	10209178, 10233438, 10233439, 10360908, 10467279, 10477778, 10634553, 10775028, 10792297, 10928623, 10936863, 11054086, 11071624, 11122096, 11151062, 11229520, 11431707, 11441986, 11471205, 11529860, 12044337, 12100159, 12270010, 12296757, 12447960, 12592605, 12745655, 12879433, 12884202, 12906030, 14996674, 15033664, 15077257, 15096570, 15140126, 15150075, 15618258, 15667542, 15815078, 16015421, 16098229, 16275464, 16550515, 16758522, 16823828, 17067362, 18160601, 18248600, 18387978, 18447939, 18796459, 18980946, 19139326, 19353312, 19420821, 19448164, 19688103, 20002540, 20007142, 20141580, 20218141, 20368522, 20626623, 20699261, 20735725, 21159708, 21564075, 21609802, 22044617, 22100829, 22533697, 22707612, 22992348, 23253409, 24523236, 24645228, 24951429, 25357225, 25395858, 25837651, 25940206, 25955572, 25973747, 26261166, 26699866, 27090446, 27214710, 27377285, 27581673, 27729560, 28348360, 29334895, 29851809, 29855758, 30168256, 30608445, 30842582, 31623212, 32021228, 32342502, 33157953, 33448877, 34142473, 34200207, 36780344, 37331118, 7703480, 7877648, 7888671, 7968118, 8705907, 8705909, 9002940, 9052561, 9067500, 9108400, 9183305, 9423813, 9454741, 9454742, 9462312, 9632445, 9858251, 9886165, 9949170
Venous Thrombosis	Stimulate	16055356, 16917913, 17442092, 25604085, 40105557, 9746774
Ventricular Dysfunction Left	Associate	21955693
Ventricular Dysfunction Right	Associate	31305418
Ventricular Fibrillation	Associate	22992348
von Willebrand Diseases	Associate	16680739, 19959486, 34059196