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
• Disease Acronyms (UniProt): 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:0002576	Process	Platelet degranulation	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	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	14607961
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0007596	Process	Blood coagulation	TAS
GO:0010951	Process	Negative regulation of endopeptidase activity	IEA
GO:0030449	Process	Regulation of complement activation	TAS
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0042730	Process	Fibrinolysis	IEA
GO:0050900	Process	Leukocyte migration	TAS
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

Causal
Disease term	Disease name	dbSNP ID	References
Activated protein c resistance	Activated Protein C Resistance	rs118203912, rs118203911, rs1571577365	11703344
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Hereditary thrombophilia	Severe hereditary thrombophilia due to congenital protein S deficiency, Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive, Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant	rs121918146, rs121918122, rs761776963
Thrombophilia	Thrombophilia, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916	20811787, 11372770, 18322254, 8781426, 12351389, 16461766, 11858485, 21285903, 7545463, 10790208, 12632031, 18954896, 10613647, 10447256, 8977443, 8765219, 16961608, 8298131, 8639833, 7579449, 26985940, 7482398, 11776305, 26251307, 8943854, 10706858, 11927129, 19826897, 9031443, 8701404, 7803790, 15712227, 21811774, 9241758, 15238143, 20484936, 20880255, 22261441

Unknown
Disease term	Disease name	Evidence	References	Source
Protein S Deficiency	hereditary thrombophilia due to congenital protein S deficiency			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	32792518
Behcet Syndrome	Associate	27222359
Blood Coagulation Disorders	Associate	35879775, 36685506
Breast Neoplasms	Associate	39270542
Cholangiocarcinoma	Associate	31956102
COVID 19	Associate	39409046
Death	Associate	28174134
Diabetic Foot	Associate	38613800
Endometrial Neoplasms	Inhibit	36965901
Fibrosis	Associate	33512463
Frontotemporal Dementia	Associate	32792518
Genetic Diseases Inborn	Associate	31759544
Glioblastoma	Associate	24358143
Glioma	Associate	35879775
Glioma	Stimulate	36685506
Hypoxia	Inhibit	33254534
Immune System Diseases	Associate	33254534
Immunoglobulin G4 Related Disease	Associate	33512463
Immunologic Deficiency Syndromes	Associate	32426810, 33506924
Infant Newborn Diseases	Associate	39409046
Inflammation	Associate	33512463
Inflammation	Stimulate	36685506
Leiomyosarcoma	Associate	29024938
Myopathies Structural Congenital	Associate	27222359
Neoplasms	Associate	32164602, 32664510, 35879775, 36685506, 39270542
Neoplastic Syndromes Hereditary	Associate	19466456, 25997409, 31743498
Parkinson Disease	Stimulate	36189230
Personality Disorders	Associate	22908226
Post Acute COVID 19 Syndrome	Inhibit	37047497
Progeria	Associate	32208162
Prostatic Neoplasms	Stimulate	22908226
Prostatic Neoplasms Castration Resistant	Stimulate	22908226
Protein C Deficiency	Associate	28607330
Protein Deficiency	Associate	29742732
Protein S Deficiency	Associate	10706858, 12351389, 15550022, 1671337, 16868938, 19466456, 23813890, 25997409, 28374852, 29742732, 30740865, 31743498, 32426810, 32971918, 34967380, 39409046, 40419135, 7579448, 7579449, 8113388, 9108398
Protein S Deficiency	Stimulate	39798525
Pulmonary Embolism	Associate	16868938, 28174134, 29742732, 31743498
Retinal Vein Occlusion	Associate	39798525
Schizophrenia	Associate	28974776
Sepsis	Associate	35681439
Thromboembolism	Associate	23986205, 28607330
Thrombophilia	Associate	33254534, 34967380, 39798525
Thrombophilia Hereditary Due To Protein S Deficiency Autosomal Dominant	Associate	32426810
Thrombosis	Associate	12351389, 23986205, 32457982, 35112923, 37647632
Thyroid Cancer Papillary	Associate	36203174
Thyroid Neoplasms	Associate	32164602
Thyroid Nodule	Associate	32164602
Uveal melanoma	Associate	37506796
Venous Thromboembolism	Associate	29742732, 32457982, 32971918, 35112923, 39675565
Venous Thrombosis	Associate	16868938, 26982741, 28374852, 29742732, 34967380, 39798525
Warfarin syndrome	Associate	28607330