Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2153
Gene name	Coagulation factor V
Gene symbol	F5
Synonyms (NCBI Gene)	FVLPCCFRPRGL1THPH2
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

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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

103

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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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	2844223, 6323392, 9556620, 28514442, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	9252393
GO:0007599	Process	Hemostasis	IEA
GO:0008015	Process	Blood circulation	IBA
GO:0008015	Process	Blood circulation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0031091	Component	Platelet alpha granule	IBA
GO:0031091	Component	Platelet alpha granule	IEA
GO:0031093	Component	Platelet alpha granule lumen	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0032571	Process	Response to vitamin K	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:1903561	Component	Extracellular vesicle	HDA	24769233

MIM	HGNC	e!Ensembl
612309	3542	ENSG00000198734

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

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		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

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)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Budd-Chiari syndrome	Pathogenic; Likely pathogenic	rs780253174, rs750012108, rs1240137844, rs986891825, rs754982088, rs1571577365	RCV005051336 RCV005051362 RCV005051370 RCV005051373 RCV005049572 RCV005049685 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital factor V deficiency	Pathogenic; Likely pathogenic	rs770011773, rs118203907, rs757953549, rs2526392825, rs2526430459, rs2526418803, rs2526445575, rs760525448, rs1557915380, rs2526358716, rs1030984228, rs1271829589, rs780253174, rs2526395115, rs761915766 View all (31 more)	RCV003762092 RCV003595850 RCV003595925 RCV003596330 RCV003596338 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
F5-related disorder	Pathogenic; Likely pathogenic	rs780253174, rs1292267151	RCV004753692 RCV003959658	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Factor V deficiency	Likely pathogenic; Pathogenic	rs2101818861, rs2101819850, rs2101818393, rs773569662, rs2101829195, rs118203907, rs118203908, rs118203909, rs2101810760, rs118203910, rs1389180171, rs757917115, rs780922091, rs2526395906, rs757953549 View all (9 more)	RCV001420391 RCV001420393 RCV000000680 RCV000000681 RCV000000682 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioma susceptibility 1	Pathogenic	rs770011773	RCV005924362	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ischemic stroke	Pathogenic; Likely pathogenic	rs780253174, rs750012108, rs1240137844, rs986891825, rs754982088, rs1571577365	RCV005051336 RCV005051362 RCV005051370 RCV005051373 RCV005049572 RCV005049685 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pregnancy loss, recurrent, susceptibility to, 1	Likely pathogenic; Pathogenic	rs1271829589, rs780253174, rs750012108, rs1240137844, rs986891825, rs754982088, rs1571577365	RCV004546801 RCV005051336 RCV005051362 RCV005051370 RCV005051373 RCV005049572 RCV005049685 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombophilia due to activated protein C resistance	Likely pathogenic; Pathogenic	rs118203906, rs118203912, rs118203911, rs2526445474, rs780253174, rs750012108, rs1240137844, rs986891825, rs754982088, rs1571577365	RCV000000678 RCV000000679 RCV000000689 RCV003129569 RCV005051336 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (65)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal bleeding	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aganglionic megacolon	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASEPTIC NECROSIS OF HEAD AND/OR NECK OF FEMUR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF BONE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Budd-Chiari syndrome, susceptibility to	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL SINOVENOUS THROMBOSIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL VENOUS SINUS THROMBOSIS	—	Disgenet	★★★★★ ★★☆☆☆ 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
Cholesteatoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC VENOUS HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC VENOUS INSUFFICIENCY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COR PULMONALE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep venous thrombosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EAST TEXAS BLEEDING DISORDER	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACTOR V AMSTERDAM BLEEDING DISORDER	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACTOR V ATLANTA BLEEDING DISORDER	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor V Hong Kong	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC VEIN THROMBOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
hormonal contraceptives for systemic use response - Toxicity	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROVASCULAR COMPLICATIONS OF DIABETES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS OF MEDIAL FEMORAL CONDYLE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAGITTAL SINUS THROMBOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thromboembolism	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THROMBOPHILIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia due to thrombin defect	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (416)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired porencephaly	Acquired Porencephaly	BEFREE	9577282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	10072118, 10084446, 10235428, 10371074, 10460643, 10482153, 10505325, 10574639, 10698038, 10740341, 10871461, 10927002, 10955688, 10980068, 11165549 View all (105 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	LHGDN	12091344, 12393556, 17640947, 18449423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	GWASDB_DG	23188048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	15534175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	7773734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	25260809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Mesenteric Arterial Embolus	Mesenteric Arterial Embolus	CTD_human_DG	24282370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Mesenteric Arterial Thrombosis	Mesenteric Arterial Thrombosis	CTD_human_DG	24282370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	19248219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	CTD_human_DG	25200834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	16549893, 16567932, 28301901, 28869458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	16906320, 22084413, 23869056, 9723576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	11146461, 15224376, 17619828, 20373031, 23869056, 23992124, 8980255, 9254858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	LHGDN	17619828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioedema	Angioedema	Pubtator	32496628	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	10769107, 11380448, 11994568, 15522067, 17762532, 19005247, 19101711, 19811220, 21188340, 23566870, 24093662, 24365770, 29402471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	17895510, 20439118, 21188340, 29959308, 31101755, 36554381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	BEFREE	10521764, 12192310, 12876621, 14747183, 15748234, 18791166, 19242082, 26304686, 27459142, 29074563, 8701400, 8843809, 9241710, 9622215, 9764672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin deficiency	Pubtator	34207366, 9208999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial Occlusive Disease	BEFREE	10360908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	10360908, 11472046, 35123430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial Occlusive Disease	LHGDN	16906235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	9786256	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15910861, 17126308, 9198120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	39531229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15910861, 17126308, 9198120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17126308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17439630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	12906030, 28390428	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	14574075		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	LHGDN	14574075		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial myxoma familial	Atrial myxoma	Pubtator	27581673	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23566870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	BEFREE	15958894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	11552181, 12632020, 15077257, 16601831, 19796528, 21813062, 23207285, 8948311, 9375883, 9517770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	LHGDN	11820731, 12632020, 12780409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	12780409, 15077257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	17982733		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	18480081	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	17982733		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	17982733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bleeding Disorder, East Texas Type	Bleeding Disorder	ORPHANET_DG	23979162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	10916083, 11435304, 11532095, 17456629, 19318242, 23799222, 25119470, 30842582, 31271701, 32496628, 34575869, 36991043, 38382738, 39846164, 7877648	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	11554942, 18174554, 18685427, 22198860, 22961823, 23566870, 23799222, 25119470, 8616062, 9054652, 9245995, 9531249, 9746774		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	LHGDN	12393635		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	CTD_human_DG	17721328		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	19318242	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	34575869, 8652809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	37321256	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders, Inherited	Blood Coagulation Disorders	BEFREE	14707415, 15003896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	12361206, 8652809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	10576642, 18382986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	19132201, 31352395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	LHGDN	19132201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	15534175		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Cerebral Ischemia	LHGDN	17525392		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Brain ischemia	Pubtator	32118374	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	15033664, 16818854, 21822552, 25407022, 29766637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15033664, 23803051, 25407022, 29766637, 33457104, 38382738, 40725392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brunner Syndrome	Brugada Syndrome	BEFREE	30831127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Budd-Chiari Syndrome	Budd-Chiari syndrome	BEFREE	10378363, 10980068, 11156651, 11584361, 15815883, 23677252, 23799222, 24755609, 24793031, 26238013, 29771426, 8889463		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Budd-Chiari Syndrome	Budd-Chiari syndrome	LHGDN	14697963, 17849060		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Budd-Chiari Syndrome	Budd-Chiari syndrome	ORPHANET_DG	24755609, 26238013		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Budd-Chiari syndrome	Budd-Chiari syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Budd-Chiari Syndrome	Budd-Chiari syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Budd-Chiari Syndrome	Budd-Chiari syndrome	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11156651	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	15237001, 17677000, 25887618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17677000, 21553052, 21755116, 25973747, 9776213, 9798979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	15748240, 36142883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	BEFREE	23533563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	15240970, 16275464, 19353312, 22707612, 27581673, 7877648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	15910861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	18848323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	8813095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	10572079, 11697722, 15678277, 15946211, 17456629, 18550588, 18796459, 22100829, 32118374, 34087973, 34241942, 9371534, 9723576	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	LHGDN	12859287		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	BEFREE	17525392, 18550588, 7773734		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	33834859	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Palsy	Cerebral palsy	BEFREE	10576642, 10864060, 16382706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	10576642, 16359589, 22098125	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	LHGDN	16359589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral sinovenous thrombosis	Cerebral Sinovenous Thrombosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Thrombosis	Cerebral Thrombosis	BEFREE	20482605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	10371074, 11279932, 12682447, 12695749, 14574075, 14681817, 15116266, 15767859, 19005247, 19560187, 19604111, 19717029, 20161734, 20616326, 21113717 View all (10 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	LHGDN	12070000, 12695749, 14574075, 15116266, 15592740, 15678277, 15947254, 17456629, 18602910, 18927445, 19132201		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CTD_human_DG	15534175		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	GWASCAT_DG	26908601		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	21755116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	9052561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	22527293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	15190517, 8889463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	12865283, 15056097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	12013200	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	19260108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	37142231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19439852, 34183315	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	25200834		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21422408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37142231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	31793409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	22643805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital factor V deficiency	Congenital Factor V Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital porencephaly	Congenital Porencephaly	BEFREE	9577282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10070834, 10195931, 19829138, 24360889, 8581514, 8872815, 9722025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10070834, 10195931, 10845571, 12067913, 15910861, 16472842, 16503463, 17982311, 19349859, 19829138, 24360889, 29179580, 8581514, 9722025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17982311, 18452260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	18452260, 19353312, 20626623, 28086795, 29179580, 30874510, 32525847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	19415820, 22388798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10070834, 10195931, 12067913, 16503463, 19829138, 24360889, 8581514, 9722025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	10896232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	33157953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	11471205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	28801724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10937811, 21351205, 24901824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	12873183, 21188340, 24901824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	16201098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	22585010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	BEFREE	10235428, 11486902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	12394344, 12792424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	10084446, 10192660, 10505325, 10756364, 10779003, 10904101, 10930988, 10970729, 11114134, 11127850, 11132655, 11190909, 11441986, 11471205, 11533523 View all (54 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	CTD_human_DG	12296757, 12827938, 12865888, 15033664, 16875063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	GWASCAT_DG	26908601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	19219640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11414634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19349859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19349859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19558686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	16138347, 19558686, 19755774, 33430853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10084586, 19349859, 19558686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	16906320, 19558686, 25887618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	25968433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	30988245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21389321, 30988245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	33430853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	11552181, 9241737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia	Dysfibrinogenemia	BEFREE	10870810		★★★★★ ★☆☆☆☆ Found in Text Mining only
East Texas bleeding disorder	Bleeding Disorder	BEFREE	23979162		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
East Texas bleeding disorder	Bleeding Disorder	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eclampsia	Eclampsia	BEFREE	11888101, 12628278, 15905108, 17688607, 18752569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	28801724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	28600052	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	18382986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	15077257	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	15077257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	21605293, 25663229		★★★★★ ★☆☆☆☆ Found in Text Mining only
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF	Combined deficiency of factor V and factor VIII	BEFREE	18685427, 9245995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Factor V deficiency	Factor V Deficiency	BEFREE	10494770, 11418372, 11435304		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Factor V Deficiency	Factor v deficiency	Pubtator	11167768, 11435304, 11564076, 11929802, 12871325, 12871359, 15961511, 18310546, 19318242, 19861681, 20501981, 25041532, 32000417, 33605529, 34575869 View all (5 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Factor V Deficiency	Factor v deficiency	Pubtator	32000417, 35946468, 37714176	Inhibit	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Factor V deficiency	Factor V Deficiency	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Factor VIII Deficiency	Factor VIII Deficiency	BEFREE	18685427, 9245995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor XII Deficiency	BEFREE	10728027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Intestinal Polyposis	Multiple polyposis syndrome	CTD_human_DG	25200834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	18496034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	30205811	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30205811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	18485088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	12695749, 14966073, 17525392, 19404532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	36773096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	BEFREE	20699261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	12871359, 23799222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	BEFREE	16098865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	11389264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	11532095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	21500982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	12871359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	14966073, 21983771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	12519104, 12725641, 12780341, 18568463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematoma	Hematoma	Pubtator	34857025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	10520044, 10674036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	10674036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	15229148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	16906320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	10877984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	11869940, 18603540, 18685427, 19932655, 26891731, 27789479, 8607105, 9245995, 9376587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	17606451, 17659055, 18184865, 18603540, 30125997, 8695835, 9371534, 9376587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	11554942, 16230049, 8607105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	18603540, 19932655, 27789479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	11929802, 12871359, 12881304, 15748243, 19826759, 19861681, 19959486, 21150787, 21320286, 22098125, 23979154, 23979162, 25041532, 25634741, 30819996 View all (8 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Hemorrhage	Pubtator	17606451, 32000417	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhagic Disorders	Hemorrhagic Disorders	LHGDN	12038802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	1281831, 25634741, 39365993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic Disorders	BEFREE	22948176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heparin cofactor II deficiency (disorder)	Heparin cofactor II deficiency	BEFREE	10629572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	BEFREE	10378363, 10980068, 11156651, 11584361, 15815883, 23677252, 23799222, 24755609, 24793031, 26238013, 29771426, 8889463		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	ORPHANET_DG	24755609, 26238013		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	15756233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25357225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	12865283, 16937480	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Factor V Deficiency	Hereditary Factor V Deficiency	BEFREE	10494770, 11418372, 11435304, 31121608, 8652809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Factor V Deficiency	Hereditary Factor V Deficiency	UNIPROT_DG	10942390, 12393490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Factor V Deficiency	Hereditary Factor V Deficiency	CLINVAR_DG	10942390, 11418372, 12816860, 16476093, 20735394, 22044617, 31064749, 7910348, 7911872, 8164741, 9694743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Factor V Deficiency	Hereditary Factor V Deficiency	LHGDN	11858490, 12239164, 18989519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Factor V Deficiency	Hereditary Factor V Deficiency	GENOMICS_ENGLAND_DG	19486170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Factor V Deficiency	Hereditary Factor V Deficiency	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Factor V Deficiency	Hereditary Factor V Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	10235428, 11011848, 8592550, 9107163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	Pubtator	8592550, 9490685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	11952004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	16184507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	10235428, 10460623, 10961579, 11011848, 11978573, 12428084, 12763495, 14707415, 15726653, 16275464, 16769590, 16777761, 17200768, 17510305, 18320477 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	12013200, 15869590, 17442092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	LHGDN	12200374, 18360788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	12037725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25973747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	21188340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11180734, 12180730, 12514663, 20601540, 21072525, 23262933, 23399370, 24189452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	LHGDN	18591887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	27425780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasminogenemia	Hypoplasminogenemia	BEFREE	27712638, 9391725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20121426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	18030499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	18030499, 9589377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	19464002, 27855570, 32399796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10937811, 11816544, 11843038, 12873183, 15947544, 16128949, 18680221, 21805067, 21831411, 9753484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	16249980, 25878173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intermittent Claudication	Claudication	Pubtator	18980946	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Embolism	Intracranial embolism	Pubtator	23675803, 34183315, 9462312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	11342420	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	21320286, 9159044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	10861823, 17456624, 21500982, 22048515, 31025572, 37175682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	18796459, 30637129, 34241942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	10397694, 10739378, 10835445, 11697722, 14574075, 15116266, 15946211, 15947254, 16567932, 16769590, 17456629, 18387982, 18602910, 20161734, 20337781 View all (10 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	26908601		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Diseases	Kidney disease	Pubtator	16760910, 30001695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30001695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	22527293, 8671856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	19520684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22527293		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	BEFREE	10064667, 11146461, 15958894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	30001695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21873357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	16080493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11156651, 29073275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12865283, 15056097		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	18485088		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	26785615	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	10706737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	12598443, 12865283	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	11472046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24175756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	10467279, 11112387, 11952666, 12180730, 15026314, 16710585, 19004141, 19029633, 23052827, 24030120, 26620418, 29248890, 30577621, 8902988, 9217178, 9763348 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	11085290, 22473489, 9074431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15026314, 15247980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	11085290, 22473489, 9074431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10726048, 11085290, 11529632, 15247980, 19029633, 19421222, 22473489, 8902988, 9074431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	11085290, 22473489, 9074431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15033664, 16818854, 21822552, 25407022, 29766637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	16080493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10064667, 15547928, 15667542, 15701913, 16882132, 18404788, 18591179, 27479824, 29766637, 29775482, 9241704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	25200834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	7604028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	18030499, 21500982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesenteric vascular insufficiency	Mesenteric Vascular Insufficiency	CTD_human_DG	24282370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23262933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	11279932, 22664050, 25158985, 28181217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	22664050	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	22664050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	11279903, 9673804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	10544905, 10655323, 10925907, 11331645, 11821292, 11843387, 15618258, 16154434, 16194196, 16431900, 17217367, 19522801, 21259017, 23795816, 26227848, 27655299 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	16080493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	34561786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	27734511, 29803757, 8889463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	10071347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	11891805	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	10090925, 10987590, 18702875, 20332812, 20626623, 21958997, 22750768, 23171482, 23382263, 23799222, 27059467, 33470184, 33998271, 7877648, 9052561, 9108400 View all (1 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	10195931, 10896232, 10987590, 11748101, 12480694, 12514663, 12877676, 14523329, 15131548, 18387978, 19829138, 20626623, 20642359, 22483732, 23799222 View all (9 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	12070000, 18702875		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	25693916	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	9531249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	10583928, 17456629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	LHGDN	12070000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	19524925, 8872815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28720694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	10726006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	10726006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	18030499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	18030499, 9589377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	27511516	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	30831127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30831127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	29851773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	29372092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Non rare thrombophilia	Non Rare Thrombophilia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonarteritic anterior ischemic optic neuropathy (NAION)	Nonarteritic Anterior Ischemic Optic Neuropathy	BEFREE	18796459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonocclusive Mesenteric Ischemia	Nonocclusive Mesenteric Ischemia	CTD_human_DG	24282370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17582472, 17897305, 21797965, 22959550, 26597668, 28331932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17897305, 20148880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Occlusive Mesenteric Arterial Ischemia	Occlusive Mesenteric Arterial Ischemia	CTD_human_DG	24282370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuropathy Ischemic	Optic neuropathy	Pubtator	18796459, 35123430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	18350351	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	22696591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	15237001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	12695749, 14966073, 17525392, 19404532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	BEFREE	15066453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian hyperstimulation syndrome	Pubtator	9457950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	27759448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	15304039, 15886665, 31285632, 32633259, 32847391	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	16275464, 26247037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	31285632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	LHGDN	15304039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	16275464, 9786256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Peripheral vascular disease	Pubtator	9786256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	11821270, 14669168, 23683262, 31303657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	14669168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	17454173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	11104298, 23828072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	LHGDN	12221665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	15522067, 17762532, 19504051, 24093662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyposis, Adenomatous Intestinal	Multiple polyposis syndrome	CTD_human_DG	25200834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porencephaly	Porencephaly	BEFREE	9577282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	10655256, 11584361, 15716659, 15947552, 18392325, 24793031, 25115839, 9157577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	14744788, 16982673, 38179769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	10726006, 12192310, 12876621, 16055356, 20175061, 22527293, 28038774, 28501666, 29771426, 31549567, 7562967, 8902986, 8943855, 9577282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	LHGDN	19190829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Protein S Deficiency	Protein S Deficiency	BEFREE	10835445, 11292195, 11380448, 11734673, 12038778, 12151426, 12152677, 12192310, 16469858, 22198364, 23026651, 27121914, 27734511, 28038774, 28079536 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Protein S Deficiency	Protein S Deficiency	LHGDN	15978097, 17641719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	21624643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	25887618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	BEFREE	10442401, 11734663, 16186475, 18160588, 21871746, 9700847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Purpura Fulminans	Purpura Fulminans	BEFREE	10599098, 12601492, 9241737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Carboxylase Deficiency Disease	Pyruvate Carboxylase Deficiency Disease	BEFREE	15706477, 31833868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	BEFREE	16202738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	18496379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Artery Occlusion	Retinal Artery Occlusion	BEFREE	11994569, 12928685, 9372726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	16015408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	11820306, 12928694, 16113792, 18449423, 23289804, 28085519, 28684050, 9730172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	CTD_human_DG	12022286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	LHGDN	16113792, 17641719, 18449423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	27018927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sagittal Sinus Thrombophlebitis	Sagittal Sinus Thrombophlebitis	CTD_human_DG	18382986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sagittal Sinus Thrombosis	Sagittal Sinus Thrombosis	CTD_human_DG	18382986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sagittal Sinus Thrombosis	Cerebral venous sinus thrombosis	Pubtator	18382986	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	19420821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30831127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	25887618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	16015153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	16444434, 28801724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septic Phlebitis, Sagittal Sinus	Septic Phlebitis, Sagittal Sinus	CTD_human_DG	18382986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	11952004, 16444434, 21389321, 22198860, 22961823, 23804230, 25690763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	29333082	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sheehan Syndrome	Sheehan Syndrome	BEFREE	27425780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	23869056, 9074431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinus Thrombosis, Intracranial	Sinus Thrombosis, Intracranial	BEFREE	14521455, 19260108, 19439852, 19703820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16830369	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	12699865, 15678277	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stroke	Stroke	Pubtator	12699865, 15247980, 24090469, 30637129, 32118374, 7877648, 9568926	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subcortical Infarction	Brain Infarction	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	23869056, 9074431		★★★★★ ★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	23869056, 9074431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	15618258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	10072118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	18550588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	18550588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	30819996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	Pubtator	30819996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	19105233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	LHGDN	12221665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	12772054, 16563815, 23828072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	11071628, 11151062, 12469051, 15247984, 15638861, 15815078, 16432849, 16758522, 17408404, 17911197, 19022798, 19414836, 19715531, 19861970, 20554945, 24645228, 25119470, 27581673, 9010145 View all (4 more)	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thromboembolism	Thromboembolism	Pubtator	12469051	Stimulate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thrombophilia	Thrombophilia	BEFREE	10064667, 10235428, 10378363, 10530716, 10544904, 10739378, 10774459, 10822069, 10886197, 10941343, 10980068, 10997790, 11054086, 11114134, 11151062 View all (138 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	Pubtator	10071347, 10460623, 10634551, 10942390, 10980068, 11426488, 11529860, 11564076, 11849222, 12221665, 12555209, 15009459, 15497023, 15678268, 15748240 View all (51 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	Pubtator	12563199, 16520725, 18796457, 19117968, 23940063, 24246297, 26477821, 27096232, 27613196, 30001695, 31263845, 35023653, 35112923	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	LHGDN	15097012, 18927445		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia due to Activated Protein C Resistance	Thrombophilia	Pubtator	15140126, 19022796, 20501981, 24335247, 9544982	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)	Activated Protein C Resistance	BEFREE	10368524, 29294595, 7493138		★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)	Activated Protein C Resistance	UNIPROT_DG	10391209, 10942390, 11435304, 11858490, 14617013, 14695241, 16710414, 8164741, 9454742		★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)	Activated Protein C Resistance	CLINGEN_DG	10666427, 11110695, 11583312, 14617013, 16268462, 24523236, 26649017, 27090446, 28889200, 29179580, 3286010, 7673148, 7734374, 7911872, 8164741, 9454742, 9616155 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)	Activated Protein C Resistance	GENOMICS_ENGLAND_DG	19486170		★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)	Activated Protein C Resistance	CLINVAR_DG	21116184, 23900608		★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)	Activated Protein C Resistance	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombophilia hereditary	Thrombophilia	Pubtator	10519989, 15975136, 18796459, 31305418, 34207366, 36695379, 9136971, 9746774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombophilia, hereditary	Thrombophilia	BEFREE	12871277, 15630669, 23795816, 26492443, 27581673, 29194315, 9184384, 9208981, 9245936, 9535390		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia, hereditary	Thrombophilia	CTD_human_DG	9136971		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophlebitis	Thrombophlebitis	Pubtator	25837651	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	10233369, 10233438, 10440914, 10519989, 10576642, 10666427, 10726006, 10726007, 10726047, 10775028, 10942390, 11054086, 11091190, 11122096, 11151062 View all (83 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	10477778, 11167765, 21073356, 23742623, 23940063, 25804613	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis of cerebral veins	Thrombosis	BEFREE	14707415, 15293102, 16155788, 20482605, 29402471, 30157246, 9553844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis of retinal vein	Thrombosis of retinal vein	CTD_human_DG	12022286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	11781222, 16015153, 16411392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	11781258, 25634741, 31793409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	15947254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	15947254, 9609219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	LHGDN	15947254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10937811, 19260108, 19439852, 28147377		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis Posterior	Uveitis	Pubtator	15077257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	25976278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	23268168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	9517770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	10521103, 10556190, 10666427, 10726047, 10987590, 11054086, 11071624, 11071628, 11091190, 11159508, 11167765, 11380431, 11471205, 11529860, 11849222 View all (87 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thromboembolism	Venous thromboembolism	Pubtator	10666427, 12570104, 19117968, 20031567, 33174335	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	10209178, 10233438, 10233439, 10360908, 10467279, 10477778, 10634553, 10775028, 10792297, 10928623, 10936863, 11054086, 11071624, 11122096, 11151062 View all (110 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	16055356, 16917913, 17442092, 25604085, 40105557, 9746774	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	21955693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	31305418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	22992348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	BEFREE	10739378, 10861823, 16155788, 16549893, 21350198, 22721898, 23337711, 28869458, 30005273, 30157246, 9836759		★★★★★ ★☆☆☆☆ Found in Text Mining only

F5 (coagulation factor V)