PROS1 (protein S)

Gene

• Entrez ID: 5627
• Gene name: Protein S
• Gene symbol: PROS1
• Synonyms (NCBI Gene): PROS, PS21, PS22, PS23, PS24, PS25, PSA, THPH5, THPH6
• Chromosome: 3
• Chromosome location: 3q11.1
• Summary: This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inact

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6122	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs5017717	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs41267007	C>T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, missense variant
rs73846070	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121918472	A>C,G	Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs121918473	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918474	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918475	G>A	Pathogenic	Stop gained, coding sequence variant
rs121918476	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs144526169	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs187264712	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs199469484	G>A	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs199469494	C>T	Likely-pathogenic	Intron variant
rs199469500	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs199469503	A>C,T	Likely-pathogenic	Coding sequence variant, stop gained
rs201928951	T>C,G	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs267599946	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs267606981	T>A,C	Pathogenic	Synonymous variant, terminator codon variant, stop lost
rs368074804	C>A,T	Likely-pathogenic	Splice acceptor variant
rs387906674	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906675	T>C	Pathogenic	Missense variant, coding sequence variant
rs759677822	C>G,T	Pathogenic	Splice acceptor variant
rs761574063	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs863224838	A>CC	Pathogenic	Frameshift variant, coding sequence variant
rs1131691605	C>T	Pathogenic	Splice acceptor variant
rs1241365457	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1302089144	A>G	Pathogenic	Missense variant, coding sequence variant
rs1395378093	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1437372036	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553809314	C>A	Pathogenic	Stop gained, coding sequence variant
rs1559926604	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1575904540	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576170616	C>T	Pathogenic	Missense variant, coding sequence variant
rs1576170618	A>-	Pathogenic	Coding sequence variant, stop gained
rs1576173175	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576176794	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576180176	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1576180280	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1576182838	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576182848	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1576198449	G>C	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018834	hsa-miR-335-5p	Microarray	18185580
MIRT053355	hsa-miR-494-3p	Luciferase reporter assay, qRT-PCR, Western blot	23789915
MIRT1265193	hsa-miR-4318	CLIP-seq
MIRT1265194	hsa-miR-4679	CLIP-seq
MIRT1265195	hsa-miR-4693-5p	CLIP-seq
MIRT1265196	hsa-miR-5096	CLIP-seq
MIRT1265197	hsa-miR-892a	CLIP-seq
MIRT2078002	hsa-miR-188-5p	CLIP-seq
MIRT2078003	hsa-miR-4282	CLIP-seq
MIRT1265196	hsa-miR-5096	CLIP-seq
MIRT2078004	hsa-miR-642a	CLIP-seq
MIRT2078003	hsa-miR-4282	CLIP-seq
MIRT2304447	hsa-miR-4320	CLIP-seq
MIRT1265196	hsa-miR-5096	CLIP-seq
MIRT2304448	hsa-miR-548n	CLIP-seq
MIRT2304449	hsa-miR-548t	CLIP-seq
MIRT2601362	hsa-miR-1184	CLIP-seq
MIRT2601363	hsa-miR-1224-3p	CLIP-seq
MIRT2601364	hsa-miR-1266	CLIP-seq
MIRT2601365	hsa-miR-1301	CLIP-seq
MIRT2601366	hsa-miR-1914	CLIP-seq
MIRT2601367	hsa-miR-22	CLIP-seq
MIRT2601368	hsa-miR-2355-5p	CLIP-seq
MIRT2601369	hsa-miR-3120-3p	CLIP-seq
MIRT2601370	hsa-miR-3156-3p	CLIP-seq
MIRT2601371	hsa-miR-3185	CLIP-seq
MIRT2601372	hsa-miR-3660	CLIP-seq
MIRT2601373	hsa-miR-3664-3p	CLIP-seq
MIRT2601374	hsa-miR-3679-3p	CLIP-seq
MIRT2601375	hsa-miR-3942-3p	CLIP-seq
MIRT2078003	hsa-miR-4282	CLIP-seq
MIRT2601376	hsa-miR-4286	CLIP-seq
MIRT2601377	hsa-miR-4301	CLIP-seq
MIRT2601378	hsa-miR-4418	CLIP-seq
MIRT2601379	hsa-miR-4480	CLIP-seq
MIRT2601380	hsa-miR-4494	CLIP-seq
MIRT2601381	hsa-miR-4518	CLIP-seq
MIRT2601382	hsa-miR-4526	CLIP-seq
MIRT2601383	hsa-miR-4660	CLIP-seq
MIRT2601384	hsa-miR-4699-5p	CLIP-seq
MIRT2601385	hsa-miR-4714-3p	CLIP-seq
MIRT2601386	hsa-miR-4793-5p	CLIP-seq
MIRT2601387	hsa-miR-5047	CLIP-seq
MIRT2601388	hsa-miR-509-3-5p	CLIP-seq
MIRT2601389	hsa-miR-509-5p	CLIP-seq
MIRT2601390	hsa-miR-545	CLIP-seq
MIRT2601391	hsa-miR-548p	CLIP-seq
MIRT2601392	hsa-miR-873	CLIP-seq
MIRT2601362	hsa-miR-1184	CLIP-seq
MIRT2601364	hsa-miR-1266	CLIP-seq
MIRT2601365	hsa-miR-1301	CLIP-seq
MIRT2601366	hsa-miR-1914	CLIP-seq
MIRT2601367	hsa-miR-22	CLIP-seq
MIRT2601368	hsa-miR-2355-5p	CLIP-seq
MIRT2601369	hsa-miR-3120-3p	CLIP-seq
MIRT2601370	hsa-miR-3156-3p	CLIP-seq
MIRT2601371	hsa-miR-3185	CLIP-seq
MIRT2601373	hsa-miR-3664-3p	CLIP-seq
MIRT2601374	hsa-miR-3679-3p	CLIP-seq
MIRT2688671	hsa-miR-375	CLIP-seq
MIRT2601375	hsa-miR-3942-3p	CLIP-seq
MIRT2688672	hsa-miR-4263	CLIP-seq
MIRT2078003	hsa-miR-4282	CLIP-seq
MIRT2601377	hsa-miR-4301	CLIP-seq
MIRT2601378	hsa-miR-4418	CLIP-seq
MIRT2601379	hsa-miR-4480	CLIP-seq
MIRT2601380	hsa-miR-4494	CLIP-seq
MIRT2601381	hsa-miR-4518	CLIP-seq
MIRT2601383	hsa-miR-4660	CLIP-seq
MIRT2601384	hsa-miR-4699-5p	CLIP-seq
MIRT2688673	hsa-miR-4735-5p	CLIP-seq
MIRT2688674	hsa-miR-4760-3p	CLIP-seq
MIRT2601387	hsa-miR-5047	CLIP-seq
MIRT2601388	hsa-miR-509-3-5p	CLIP-seq
MIRT2601389	hsa-miR-509-5p	CLIP-seq
MIRT2601390	hsa-miR-545	CLIP-seq
MIRT2601391	hsa-miR-548p	CLIP-seq
MIRT2688675	hsa-miR-576-5p	CLIP-seq
MIRT2601392	hsa-miR-873	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
STAT3	Unknown	16840717

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	8146182
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
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	IDA	14607961
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	9657428
GO:0007599	Process	Hemostasis	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0042730	Process	Fibrinolysis	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 176880
• HGNC: 9456
• e!Ensembl: ENSG00000184500

Protein

• UniProt ID: P07225
• Protein name: Vitamin K-dependent protein S
• Protein function: Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis.
• PDB: 1Z6C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00594	Gla	46 → 86	Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain	Domain
  PF00008	EGF	121 → 153	EGF-like domain	Domain
  PF14670	FXa_inhibition	161 → 199		Domain
  PF07645	EGF_CA	201 → 241	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	243 → 282	Calcium-binding EGF domain	Domain
  PF00054	Laminin_G_1	329 → 459	Laminin G domain	Domain
  PF02210	Laminin_G_2	514 → 647	Laminin G domain	Domain

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

  MRVLGGRCGALLACLLLVLPVSEANFLSKQQASQVLVRKRRANSLLEETKQGNLERECIE
  ELCNKEEAREVFENDPETDYFYPKYLVCLRSFQTGLFTAARQSTNAYPDLRSCVNAIPDQ
  CSPLPCNEDGYMSCKDGKASFTCTCKPGWQGEKCEFDINECKDPSNINGGCSQICDNTPG
  SYHCSCKNGFVMLSNKKDCKDVDECSLKPSICGTAVCKNIPGDFECECPEGYRYNLKSKS
  CEDIDECSENMCAQLCVNYPGGYTCYCDGKKGFKLAQDQKSCEVVSVCLPLNLDTKYELL
  YLAEQFAGVVLYLKFRLPEISRFSAEFDFRTYDSEGVILYAESIDHSAWLLIALRGGKIE
  VQLKNEHTSKITTGGDVINNGLWNMVSVEELEHSISIKIAKEAVMDINKPGPLFKPENGL
  LETKVYFAGFPRKVESELIKPINPRLDGCIRSWNLMKQGASGIKEIIQEKQNKHCLVTVE
  KGSYYPGSGIAQFHIDYNNVSSAEGWHVNVTLNIRPSTGTGVMLALVSGNNTVPFAVSLV
  DSTSEKSQDILLSVENTVIYRIQALSLCSDQQSHLEFRVNRNNLELSTPLKIETISHEDL
  QRQLAVLDKAMKAKVATYLGGLPDVPFSATPVNAFYNGCMEVNINGVQLDLDEAISKHND
  IRAHSCPSVWKKTKNS

• Sequence length: 676

Pathways

KEGG:

Efferocytosis
Complement and coagulation cascades

Reactome:

Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Common Pathway of Fibrin Clot Formation
Gamma-carboxylation of protein precursors
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins
Cell surface interactions at the vascular wall
Regulation of Complement cascade

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hereditary thrombophilia due to congenital protein S deficiency	Pathogenic	rs2107125195	RCV004785539	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs368074804	RCV005928658	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROS1-related disorder	Pathogenic; Likely pathogenic	rs121918474, rs759677822, rs1437372036, rs199469494, rs766423432	RCV003952355 RCV003420260 RCV004731031 RCV004698848 RCV003983851	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Protein S deficiency disease	Likely pathogenic; Pathogenic	rs2107279041, rs2107125195, rs1709034856, rs2107137626, rs2107279407, rs2471793821, rs5017717, rs1302089144, rs1576170618, rs199469503, rs199469500, rs1576173175, rs267599946, rs1576176794, rs1437372036, rs1576180280, rs1395378093, rs1576182838, rs761574063, rs1575904540, rs199469484, rs199469494	RCV002245345 RCV002245347 RCV002245349 RCV002245350 RCV002245430 RCV003594626 RCV000851685 RCV000851732 RCV000851724 RCV000851930 RCV000851705 RCV000851703 RCV000852021 RCV000851586 RCV000851991 RCV000851920 RCV000852246 RCV000852221 RCV000851642 RCV000851805 RCV000851579 RCV000851997	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic; Pathogenic	rs753603433, rs2107158284, rs2107120174, rs2107170811, rs2107202922, rs780859898, rs2107279030, rs779391826, rs2107124949, rs2107137626, rs368074804, rs2472142959, rs2472148801, rs2472115014, rs2472148797, rs377173471, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs750744790, rs2107150039, rs387906674, rs5017717, rs759677822, rs199469503, rs1575904540, rs1576182848, rs1708665916, rs766423432, rs780863931, rs1708347661	RCV001353255 RCV001353254 RCV001729860 RCV001801305 RCV001801308 RCV001801315 RCV001801316 RCV004796687 RCV002223119 RCV003313797 RCV000149896 RCV002814359 RCV003313894 RCV003388269 RCV003389029 RCV003447747 RCV000014245 RCV000014246 RCV000014248 RCV000014249 RCV000014250 RCV003484569 RCV003484577 RCV000022724 RCV002062111 RCV001335248 RCV004796299 RCV002222627 RCV001002782 RCV003448362 RCV002222676 RCV002491727 RCV003483800	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombophilia due to protein S deficiency, autosomal recessive	Pathogenic; Likely pathogenic	rs2107120227, rs2107279275, rs1559931820, rs2107202868, rs1332591784, rs1708536031, rs779391826, rs1403076049, rs554787241, rs2107120223, rs1380889353, rs2107158205, rs769700380, rs2472107297, rs2472132377, rs2472099808, rs368074804, rs863224838, rs121918476, rs121918474, rs121918475, rs2471793974, rs762438750, rs766692725, rs763898193, rs2472117896, rs2472117875, rs2472135703, rs2472132174, rs1262633928, rs1310240075, rs2472117699, rs387906674, rs1553808038, rs5017717, rs1553809314, rs1559926604, rs1241365457, rs759677822, rs199469503, rs199469494, rs1709033502, rs1708668246, rs1708665916, rs766423432, rs1708152510, rs1708985469, rs1708453639, rs780863931, rs1708666412, rs1708347661	RCV001379760 RCV001377708 RCV001380840 RCV001381645 RCV001998538 RCV001897933 RCV001984812 RCV002035461 RCV001951037 RCV001906972 RCV001986240 RCV001920368 RCV002651715 RCV002651716 RCV002576653 RCV002797132 RCV002848414 RCV000197344 RCV000206188 RCV001055823 RCV003528135 RCV003528502 RCV003529405 RCV003529469 RCV003529470 RCV003529645 RCV003643675 RCV003643617 RCV003643933 RCV003644124 RCV003644514 RCV003642546 RCV003642802 RCV001232043 RCV000558347 RCV001204662 RCV005091831 RCV000688177 RCV000691217 RCV000705342 RCV001241347 RCV001389154 RCV001041891 RCV001051661 RCV001036048 RCV001216716 RCV001211450 RCV001216580 RCV001237346 RCV001229183 RCV001233375 RCV001232678	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormal thrombosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEEP VEIN THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep venous thrombosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Finnish congenital nephrotic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Incidental Discovery	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Protein S Heerlen	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAGITTAL SINUS THROMBOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thromboembolism	Uncertain significance	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	BEFREE	28081259		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	10195932, 12428083, 15706475, 19105233, 25771983, 7803245, 8845465, 9518043, 9763348		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	CTD_human_DG	11703344		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	LHGDN	18067603, 18768782		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12530069, 18491956, 2195744, 31013476, 9712452		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	10188912, 10667479, 15350307, 18584300, 23318356, 29416625, 29894516, 30402808, 30789396, 31162264, 31304057		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29998354		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	9518043		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	10893635		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	22290026		★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	BEFREE	22398278		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28623635, 30882243		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	17429411, 28623635, 30882243		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	21212260, 23130941, 27743893		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21384080, 23958677, 30885050		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29706963, 30335822		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	27749230		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21384080, 23958677, 30885050		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30729671		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	27222359		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	27222359	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	16286983		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10458410, 12949428, 15283888, 16516186, 18076912, 18222179, 18722876, 19462463, 22298030, 22731640, 23470460, 23620269, 24711254, 26831660, 27818346, 28211173, 28300542, 28327526, 28430620, 28617988, 28752596, 29100363, 29203798, 30087706, 30186533, 30341416, 30410027, 31288722, 31534967, 31569672, 7533062		★☆☆☆☆ Found in Text Mining only
Bladder neck obstruction	Bladder neck obstruction	BEFREE	30651033		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28764970		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	10195932, 20348395, 28374852		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	35879775, 36685506	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	15154626		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10188912, 12142380, 15647832, 16365023, 16897430, 18646000, 28795403, 29109015, 30254080, 31664946		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39270542	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	28813037		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	27881017, 31534629, 7512791		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28764970		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10391562, 29736949, 30174274		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16950394, 21787114		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	29203116, 30540597		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18433462		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28608963, 29658833, 30358898, 30885050		★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	10068342, 29138196		★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	12474530		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	26251307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Thrombosis	Cerebral Thrombosis	BEFREE	25997409		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30237546, 7943612		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31956102	Associate	★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	18216146		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	31138132		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	28551659		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	23841464		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29169663		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	23776434, 23850380		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital thrombotic disease, due to Protein C deficiency	Congenital Thrombotic Disease	BEFREE	11434940		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18680534		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	28762373, 29248950		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	15068391		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	12428083, 12681974, 16026279, 16409468, 16672217, 16868938, 17938802, 18434709, 18954896, 20022358, 20200160, 20811787, 26372516, 26982741, 29742732, 31295762, 9616157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep Vein Thrombosis	Thrombosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	30684456, 30882243, 31621538		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30364237, 31440861		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30364237, 31440861		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20203524, 29658833, 31560710		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	38613800	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29511111		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	26436558		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	27489290		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	16026279		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36965901	Inhibit	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10487169		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	18752058, 21381033, 28291903, 29523813, 29905907, 29988684, 31163438, 31296901, 31492993		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31160348		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	30729671		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24358143	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27840905, 29531161		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27840905, 29531161		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35879775	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36685506	Stimulate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	28762373, 29248950		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	15289356		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	29317453, 31608540		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	29317453, 31608540		★☆☆☆☆ Found in Text Mining only
Hereditary Antithrombin Deficiency	Antithrombin Deficiency	BEFREE	8165635		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	12471593, 17957791		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	31138132		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	17187781, 17400200, 31138132		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	19940469, 21586893		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30619769		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33254534	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	10487169		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	33254534	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25997409, 7943612		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	29024938	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12142383		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27818006		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	23841464		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	16043123		★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	19029633, 19940469, 22664050, 23546730, 8052955		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	23497733		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	15350307		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	15350307		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	15289356		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10188912, 12142380, 15647832, 16365023, 16897430, 18646000, 28795403, 29109015, 30254080, 31664946		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31044493		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29736949, 30174274, 31534629		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16950394, 21787114		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10098501, 10188912, 10223486, 10379797, 10569618, 10652560, 10792086, 11034093, 11212244, 11254449, 11507044, 11571582, 11857020, 11948967, 12023131, 12142373, 12142380, 12142383, 12218299, 12242725, 12471593, 12581210, 12735498, 12814669, 12858354, 12949428, 14572750, 14607215, 14743461, 14755677, 15036671, 15050332, 15154626, 15322319, 15350307, 15368351, 15389792, 15474988, 15503828, 15543614, 15649863, 15678150, 15705654, 15754351, 15911097, 15948728, 16000958, 16015610, 16043123, 16126332, 16172228, 16175585, 16381942, 16388501, 16516186, 16774685, 16983328, 17012834, 17044040, 1712248, 17151093, 17303324, 17320159, 17440964, 17450530, 17467883, 17568188, 17629406, 17647201, 17957791, 17984071, 17991549, 18061337, 18076912, 18222179, 18225585, 18245536, 18361410, 18422767, 18431597, 18497063, 18627304, 18640109, 18646000, 18697814, 18722876, 18757426, 18780294, 18801539, 18827812, 18836306, 18846227, 19013180, 19095061, 19100308, 19116992, 19424173, 19434657, 19459176, 19462463, 19489685, 19507229, 19548854, 19575420, 19683515, 20065953, 20099974, 20180647, 20203524, 20302518, 20424135, 20451417, 20531306, 20632874, 20842666, 20860009, 20957673, 20967219, 20970419, 21095422, 21129724, 21160075, 21166744, 21212260, 21318478, 21345070, 21465221, 21520154, 21584487, 21600800, 21647377, 21788966, 21791629, 21813756, 21826098, 21939492, 21959049, 21969603, 21979296, 22019475, 22025344, 22047144, 22113713, 22154085, 22234006, 22281794, 22347450, 22528335, 22555040, 22576683, 22595052, 22642976, 22687565, 22703285, 22705054, 22765866, 22792137, 22820620, 23129512, 23213189, 23292082, 23318363, 23370768, 23381693, 23391636, 23433128, 23459097, 23464444, 23470460, 23527518, 23666742, 23737135, 23773345, 23792811, 23794398, 23826159, 23826841, 23843146, 23861782, 23939133, 23948277, 23958433, 24037955, 24120391, 24324057, 24338276, 24604720, 24627192, 24788382, 24820830, 24835310, 24849040, 24854630, 24952954, 25101567, 25352524, 25422221, 25540025, 25563847, 25686826, 25750310, 25769446, 25876105, 25889691, 25891023, 25969992, 26030748, 26068399, 26125925, 26134445, 26169045, 26171803, 26332453, 26339409, 26343558, 26345389, 26369530, 26383228, 26431041, 26458958, 26614400, 26620456, 26689513, 26773531, 26782586, 26831660, 26847530, 26868935, 26871947, 26908062, 27038170, 27060154, 27076165, 27084245, 27102235, 27120785, 27121847, 27148956, 27189160, 27236302, 27289238, 27400876, 27460552, 27470540, 27481175, 27518576, 27522256, 27699819, 27718273, 27725729, 27726850, 27741522, 27741552, 27742670, 27775154, 27793023, 27803051, 27807905, 27818346, 27819756, 27824042, 27834470, 27871928, 27893706, 27897172, 27922627, 27987030, 27995937, 28045113, 28058757, 28081259, 28085790, 28094250, 28094251, 28117382, 28117387, 28121355, 28124523, 28124526, 28134773, 28138747, 28143868, 28157066, 28160549, 28162815, 28176139, 28283654, 28283782, 28291906, 28293631, 28296582, 28299763, 28322234, 28364014, 28376158, 28391870, 28399576, 28410987, 28416350, 28418195, 28431993, 28433413, 28464446, 28495148, 28524006, 28529650, 28534659, 28535696, 28558685, 28586946, 28607597, 28609648, 28615058, 28617988, 28621736, 28634111, 28679370, 28694142, 28695317, 28695916, 28701750, 28703328, 28715578, 28752596, 28762124, 28764970, 28767721, 28783264, 28791252, 28793236, 28795218, 28813037, 28841855, 28882030, 28882187, 28899491, 28905400, 28919101, 28923030, 28939158, 28948333, 28974201, 28981735, 28994485, 29020868, 29029032, 29044297, 29044563, 29076912, 29084410, 29088771, 29094851, 29099733, 29100363, 29105797, 29108322, 29122836, 29126446, 29129952, 29138196, 29149380, 29155186, 29156615, 29171259, 29184786, 29189229, 29203798, 29206164, 29232037, 29248950, 29260633, 29278842, 29284055, 29301143, 29304771, 29307509, 29308527, 29321194, 29322512, 29326690, 29339807, 29372688, 29383739, 29386538, 29405172, 29416625, 29429895, 29434372, 29448139, 29454309, 29464033, 29465428, 29499730, 29499779, 29508048, 29518100, 29522280, 29523813, 29535815, 29570262, 29580912, 29588330, 29595681, 29617073, 29630104, 29630957, 29635526, 29650035, 29650325, 29659051, 29667616, 29686358, 29696637, 29745629, 29772100, 29781117, 29794067, 29797600, 29801018, 29803408, 29855276, 29885274, 29905907, 29990335, 30002108, 30003374, 30012385, 30027591, 30031467, 30037211, 30041764, 30047547, 30049237, 30073682, 30075951, 30105521, 30113755, 30121424, 30126402, 30171228, 30173421, 30176851, 30178243, 30179618, 30181389, 30186533, 30193693, 30215656, 30222680, 30237027, 30265884, 30267820, 30284481, 30294801, 30301636, 30325021, 30325610, 30327584, 30334974, 30342844, 30365141, 30386737, 30388485, 30394930, 30470253, 30506128, 30538797, 30540597, 30564911, 30565302, 30592769, 30595465, 30617554, 30643974, 30653262, 30660434, 30679762, 30683712, 30767493, 30862227, 30868389, 30885050, 30905464, 30917943, 30950457, 30958910, 30962017, 30972506, 30980038, 30989489, 30990112, 30996714, 31001481, 31004342, 31016435, 31045267, 31047912, 31090082, 31118771, 31122297, 31125365, 31128043, 31144489, 31156017, 31160348, 31166103, 31169140, 31172275, 31178436, 31190297, 31209634, 31261602, 31270961, 31284686, 31288722, 31305891, 31319390, 31338731, 31363165, 31392072, 31399825, 31421657, 31436568, 31446281, 31448239, 31454725, 31492993, 31502084, 31516752, 31534629, 31534967, 31563066, 31588336, 31615476, 31628565, 31642740, 31690449, 31691526, 31695139, 31695844, 31711243, 31711524, 31711843, 31715513, 31722940, 31731188, 31733275, 31743339, 31749145, 31759363, 31766715, 31779677, 31780781, 31795990, 31808398, 31851457, 7524153, 7538236, 8543402, 8753736, 8968092, 9428387, 9989206		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	25645517		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28764970		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10571186, 11948967, 12218299, 12439719, 12876620, 12907647, 14743461, 15192120, 15368467, 16286983, 17001673, 17568188, 18640109, 18794087, 18800346, 19436291, 20945500, 20957673, 20967219, 21445975, 21788966, 22047144, 22083266, 23292082, 23722471, 23941784, 24927162, 24997128, 25686826, 26343558, 26458958, 26783378, 26813356, 26871947, 27543619, 27768168, 27775154, 27818346, 27824042, 28108045, 28143868, 28157066, 28161841, 28191793, 28299763, 28436357, 28615267, 28715578, 28725580, 28764970, 28851376, 29024425, 29029032, 29232037, 29248950, 29278842, 29312542, 29465157, 29569310, 29689706, 29765545, 29808301, 30037211, 30204798, 30233396, 30378238, 30415878, 30477387, 30599876, 30664734, 31147981, 31156017, 31444696, 31534967, 31766614, 31775787		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	27677928, 9616157		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10188912		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	28115200		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16381942, 29518100		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30684456, 30882243, 31621538		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30058042		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29434372, 29925936		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	10569618, 19436291, 28097317, 28338310, 28588730, 29050295, 29663462, 29735818, 30232224		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28535696		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	21901231		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10068342, 10223486, 10472353, 10537358, 10749132, 10881018, 10893635, 10928161, 10960844, 11212244, 11589829, 11747336, 11857028, 11948967, 12036918, 12142373, 12142380, 12487060, 12504055, 12530069, 12640659, 12894532, 14743461, 14991898, 15053304, 15107801, 15283888, 15503828, 15754319, 15911097, 16015610, 16172228, 16175585, 16381942, 16516186, 16721785, 16741920, 16827116, 17182240, 17257635, 17467883, 17879940, 18175332, 18324645, 18752043, 19148481, 19267352, 19683515, 20583134, 20860009, 21031435, 21212260, 21216933, 21390317, 21520153, 21712449, 21739464, 21858228, 21939492, 22347450, 22642976, 23381693, 23939133, 23941784, 23948277, 24012641, 24052127, 24099827, 24261794, 24345439, 24353088, 24604720, 24627192, 25138562, 25153390, 25165096, 25351916, 25403418, 25521481, 25563847, 25769446, 25794974, 25798940, 25937368, 26030748, 26106075, 26238234, 26392259, 26435505, 26614400, 26731648, 26754263, 26773531, 26944919, 27060154, 27085489, 27120785, 27271990, 27342144, 27803051, 27826729, 28117816, 28118606, 28134773, 28138747, 28143868, 28160549, 28364014, 28389510, 28497198, 28500489, 28678638, 28993510, 29044297, 29101444, 29105797, 29204705, 29322512, 29413967, 29570821, 29572953, 29606109, 29630104, 29659051, 29661963, 29708510, 29855276, 29885274, 29886377, 30063011, 30155992, 30342845, 30592769, 30600483, 30674952, 30679762, 30700328, 30885050, 30950457, 30980038, 31014300, 31136108, 31210308, 31269285, 31359744, 31383039, 31451482, 31557128, 31711982, 31732768, 31742767, 31745645, 31766614, 31767941, 7536128, 7538903, 7954242, 8753736, 8824549, 9581866, 9815800		★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	BEFREE	27243216		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Non rare thrombophilia	Non Rare Thrombophilia	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29254203		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29464033, 31440861		★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	BEFREE	18216146		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	27489290		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31534629		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16950394, 21787114		★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	12767274, 20180647		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28469572		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36189230	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30729671		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	22290026		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	11122096, 29747524		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	28469572		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	10960844, 17957791		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10068342, 10098501, 10188912, 10223486, 10379797, 10547578, 10569618, 10652560, 10769689, 10792086, 11034093, 11212244, 11254449, 11507044, 11571582, 11857020, 11948967, 12023131, 12142373, 12142380, 12142383, 12218299, 12242725, 12471593, 12581210, 12735498, 12814669, 12858354, 12949428, 14572750, 14607215, 14743461, 14755677, 15036671, 15050332, 15154626, 15283888, 15322319, 15350307, 15368351, 15389792, 15474988, 15503828, 15543614, 15678150, 15705654, 15754351, 15911097, 15948728, 16000958, 16015610, 16043123, 16126332, 16172228, 16175585, 16381942, 16388501, 16516186, 16774685, 17012834, 17044040, 17151093, 17303324, 17320159, 17440964, 17467883, 17568188, 17629406, 17647201, 17957791, 17984071, 17991549, 18061337, 18076912, 18222179, 18225585, 18245536, 18361410, 18383875, 18431597, 18497063, 18627304, 18640109, 18646000, 18649734, 18697814, 18722876, 18757426, 18780294, 18801539, 18827812, 18836306, 18846227, 19013180, 19100308, 19116992, 19424173, 19434657, 19459176, 19462463, 19489685, 19507229, 19548854, 19575420, 19683515, 20065953, 20099974, 20180647, 20203524, 20302518, 20424135, 20451417, 20531306, 20632874, 20842666, 20860009, 20957673, 20967219, 20970419, 21095422, 21129724, 21160075, 21166744, 21212260, 21318478, 21345070, 21465221, 21520154, 21584487, 21600800, 21647377, 21788966, 21791629, 21813756, 21826098, 21939492, 21959049, 21969603, 21979296, 22019475, 22025344, 22047144, 22113713, 22154085, 22234006, 22281794, 22347450, 22528335, 22555040, 22576683, 22595052, 22642976, 22687565, 22703285, 22705054, 22765866, 22792137, 22820620, 23129512, 23213189, 23292082, 23318363, 23370768, 23381693, 23391636, 23433128, 23459097, 23464444, 23470460, 23527518, 23666742, 23737135, 23773345, 23792811, 23794398, 23826159, 23826841, 23861782, 23939133, 23958433, 24037955, 24120391, 24324057, 24338276, 24604720, 24627192, 24788382, 24820830, 24835310, 24849040, 24952954, 25101567, 25352524, 25422221, 25540025, 25563847, 25686826, 25750310, 25769446, 25876105, 25889691, 25891023, 25969992, 26068399, 26125925, 26134445, 26169045, 26171803, 26332453, 26339409, 26343558, 26345389, 26369530, 26431041, 26458958, 26614400, 26620456, 26689513, 26773531, 26782586, 26831660, 26847530, 26868935, 26871947, 26908062, 27038170, 27060154, 27076165, 27084245, 27102235, 27120785, 27121847, 27148956, 27189160, 27236302, 27289238, 27400876, 27460552, 27470540, 27481175, 27518576, 27522256, 27699819, 27718273, 27725729, 27726850, 27741522, 27741552, 27742670, 27775154, 27793023, 27803051, 27807905, 27818346, 27819756, 27824042, 27834470, 27871928, 27893706, 27897172, 27922627, 27987030, 27995937, 28045113, 28058757, 28081259, 28085790, 28094250, 28094251, 28117382, 28117387, 28121355, 28124523, 28124526, 28134773, 28138747, 28143868, 28157066, 28160549, 28162815, 28176139, 28283654, 28283782, 28291906, 28293631, 28296582, 28299763, 28322234, 28364014, 28376158, 28391870, 28399576, 28410987, 28416350, 28418195, 28431993, 28433413, 28464446, 28495148, 28524006, 28529650, 28534659, 28535696, 28558685, 28586946, 28607597, 28609648, 28615058, 28617988, 28621736, 28634111, 28679370, 28694142, 28695317, 28695916, 28701750, 28703328, 28715578, 28752596, 28762124, 28764970, 28767721, 28783264, 28791252, 28793236, 28795218, 28813037, 28841855, 28882030, 28882187, 28899491, 28905400, 28919101, 28923030, 28939158, 28948333, 28974201, 28981735, 28994485, 29020868, 29044297, 29044563, 29076912, 29084410, 29088771, 29099733, 29100363, 29105797, 29108322, 29122836, 29126446, 29129952, 29138196, 29149380, 29155186, 29156615, 29171259, 29184786, 29189229, 29203798, 29206164, 29232037, 29248950, 29260633, 29278842, 29284055, 29301143, 29304771, 29307509, 29308527, 29321194, 29322512, 29326690, 29339807, 29340038, 29372688, 29383739, 29386538, 29405172, 29416625, 29429895, 29434372, 29448139, 29454309, 29464033, 29465428, 29499730, 29499779, 29508048, 29518100, 29522280, 29523813, 29535815, 29570262, 29580912, 29588330, 29595681, 29617073, 29630104, 29630957, 29635526, 29650035, 29650325, 29659051, 29667616, 29686358, 29696637, 29745629, 29772100, 29781117, 29794067, 29797600, 29801018, 29803408, 29855276, 29885274, 29905907, 29970541, 29990335, 30002108, 30003374, 30012385, 30027591, 30031467, 30037211, 30041764, 30047547, 30049237, 30073682, 30105521, 30113755, 30121424, 30126402, 30171228, 30173421, 30176851, 30178243, 30179618, 30181389, 30186533, 30193693, 30209952, 30215656, 30222680, 30237027, 30265884, 30267820, 30284481, 30294801, 30301636, 30325021, 30325610, 30327584, 30334974, 30342844, 30365141, 30386737, 30388485, 30394930, 30470253, 30506128, 30538797, 30540597, 30564911, 30565302, 30592769, 30595465, 30617554, 30643974, 30653262, 30660434, 30679762, 30683712, 30767493, 30862227, 30868389, 30885050, 30890448, 30905464, 30917943, 30950457, 30958910, 30962017, 30972506, 30980038, 30989489, 30990112, 30996714, 31001481, 31004342, 31016435, 31045267, 31047912, 31090082, 31118771, 31122297, 31125365, 31128043, 31144489, 31156017, 31160348, 31166103, 31169140, 31172275, 31178436, 31190297, 31209634, 31261602, 31270961, 31284686, 31288722, 31305891, 31319390, 31338731, 31363165, 31392072, 31399825, 31421657, 31436568, 31446281, 31448239, 31454725, 31492993, 31502084, 31534629, 31534967, 31563066, 31588336, 31615476, 31628565, 31642740, 31690449, 31691526, 31695139, 31695844, 31711243, 31711524, 31711843, 31715513, 31722940, 31731188, 31733275, 31743339, 31749145, 31759363, 31766715, 31779677, 31780781, 31795990, 31808398, 31851457, 7524153, 7538236, 8543402, 8753736, 8968092, 9428387, 9989206		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	10068342, 19507229, 25686826, 31759363, 31786882		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	30341416		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	19148481		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	10881018, 15314219, 15761871, 18245536, 18542058, 19152342, 26369530, 28134773, 28674394, 29580912, 30155992		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12413608		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22908226	Stimulate	★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	BEFREE	28886262, 31218113		★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	2966450		★☆☆☆☆ Found in Text Mining only
Protein S Deficiency	Protein S Deficiency	BEFREE	10091395, 10613647, 10706858, 12351389, 15550022, 16363235, 16868938, 16885060, 17849042, 17938802, 18322254, 21172841, 21799399, 22627709, 24014240, 2521801, 25255242, 26466767, 27846449, 29742732, 31743498, 8611698, 8616098, 8865520, 8943854, 9108398, 9375743, 9657428		★☆☆☆☆ Found in Text Mining only
Protein S Deficiency	Protein S Deficiency	LHGDN	15893367, 16363235, 17157360, 17849042, 17938802, 18322254		★☆☆☆☆ Found in Text Mining only
Protein S Deficiency	Protein S Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	22298274		★☆☆☆☆ Found in Text Mining only
Purpura Fulminans	Purpura Fulminans	BEFREE	10063989, 12687747, 7974339		★☆☆☆☆ Found in Text Mining only
Pyruvate Carboxylase Deficiency Disease	Pyruvate Carboxylase Deficiency Disease	BEFREE	10973672, 11694407, 15449030, 16113792, 23986205, 26134363, 27766527, 2961308, 30384036		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31044493		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	CTD_human_DG	25070658		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	23381693, 27574819, 30797246		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	10442899		★☆☆☆☆ 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
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	15911097, 20302518, 23939133, 28380027, 28548372, 29249638, 29588330, 29808301, 30084276, 31414399, 8753736		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28974776		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	28974776	Associate	★☆☆☆☆ Found in Text Mining only
Scott Syndrome	Scott Syndrome	BEFREE	27161080		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	35681439	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	26436558		★☆☆☆☆ Found in Text Mining only
Severe hereditary thrombophilia due to congenital protein S deficiency	Hereditary Thrombophilia	Orphanet			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28118606		★☆☆☆☆ Found in Text Mining only
Superficial Thrombophlebitis	Superficial Thrombophlebitis	BEFREE	8640401		★☆☆☆☆ Found in Text Mining only
Superficial Thrombophlebitis	Superficial Thrombophlebitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	BEFREE	9576081		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	31060755, 31266828		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	16950154		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	19105233		★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	23986205, 28607330	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thrombophilia	Thrombophilia	BEFREE	10790208, 12681974, 16026279, 18434709, 18479427, 21285903, 22398278, 22627591, 24992033, 26315791, 29747524, 29782332, 30189336, 30485173, 31138132, 31295762, 31422373, 9241706, 9271815, 9408945, 9657428		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	LHGDN	17849042		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	33254534, 34967380, 39798525	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	Thrombophilia	UNIPROT_DG	10447256, 10613647, 10706858, 10790208, 11372770, 11776305, 11858485, 11927129, 12351389, 12632031, 15238143, 15712227, 18322254, 7482398, 7545463, 7579449, 7803790, 8298131, 8639833, 8701404, 8765219, 8781426, 8943854, 8977443, 9031443, 9241758		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	Thrombophilia	CLINVAR_DG	16461766, 16961608, 18954896, 19826897, 20811787, 21285903, 21811774, 26251307, 26985940, 8298131		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	Thrombophilia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE	Thrombophilia	CLINVAR_DG	12351389, 20880255, 22261441, 7803790		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE	Thrombophilia	UNIPROT_DG	20484936		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE	Thrombophilia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombophilia Hereditary Due To Protein S Deficiency Autosomal Dominant	Thrombophilia	Pubtator	32426810	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia, hereditary	Thrombophilia	BEFREE	2521801, 28804826		★☆☆☆☆ Found in Text Mining only
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant	Hereditary Thrombophilia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive	Hereditary Thrombophilia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	12351389, 23986205, 32457982, 35112923, 37647632	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis of cerebral veins	Thrombosis	BEFREE	25997409		★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36203174	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32164602	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	31004342		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	LHGDN	16105054		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	29568968		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37506796	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28874783		★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	29742732, 32457982, 32971918, 35112923, 39675565	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	16868938, 26982741, 28374852, 29742732, 34967380, 39798525	Associate	★☆☆☆☆ Found in Text Mining only