Protein S Deficiency malady

NIH Rare Diseases: Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding.  Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulated normally and affected individuals have an increased risk of forming a blood clot called a thrombosis.  People at risk to have protein S deficiency are those with an individual or family history of multiple blood clots in the veins.  Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.³⁰

MalaCards: Protein S Deficiency, also known as protein s deficiency disease (disorder), is related to thrombosis and trifunctional protein deficiency. An important gene associated with Protein S Deficiency is HADHB (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit), and among its related pathways are Intrinsic Prothrombin Activation Pathway and Blood Coagulation Cascade. The drugs amino acids and amino acids,essential and the compounds threonine and acyl-coa have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Genetics Home Reference: Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.¹⁷

Wikipedia: Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a...⁴⁴ more...

Aliases & Descriptions:

protein s deficiency 6 7 44 30 17 8 32 43 protein s deficiency disease (disorder) 6 16 protein deficiency 32 43

hereditary thrombophilia due to protein s deficiency 17 thrombophilia, hereditary 43

Disease types for protein s deficiency family:

protein c deficiency	protein r deficiency

Diseases related to protein s deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 655)

id	Related Disease	Score	Top Affiliating Genes
1	thrombosis	35.8	MTHFR, F8, F5, F2
2	trifunctional protein deficiency	34.5	EHHADH, HADHA, HADHB
3	mitochondrial trifunctional protein deficiency	34.3	EHHADH, HADHA, HADHB
4	d-bifunctional protein deficiency	33.6	SCP2, HSD17B4, C20orf79, ACOX1, EHHADH, HADHB
5	purpura fulminans	32.9	SERPINC1, MTHFR, APOH, F5, F3, F2
6	central retinal vein occlusion	32.0	SERPINC1, SERPINE1, MTHFR, APOH, F8, F5
7	retinal vein occlusion	32.0	SERPINC1, SERPINE1, MTHFR, APOH, F8, F5
8	deep vein thrombosis	31.9	SERPINC1, SERPINE1, MTHFR, CELSR2, FGA, APOH
9	venous thrombosis	31.5	LRP1, SERPINC1, SERPINE1, MTHFR, CETP, FGA
10	thrombophilia	30.5	PIGA, SERPINC1, SERPINE1, MTHFR, CETP, FGA
11	thromboembolism	30.2	LRP1, SERPINC1, SERPINE1, MTHFR, FGA, APOA1
12	pulmonary embolism	30.2	PIK3C2A, SERPINC1, SERPINE1, MTHFR, CELSR2, FGA
13	antiphospholipid syndrome	30.1	SERPINC1, SERPINE1, LDLR, MTHFR, APOB, APOH
14	adrenoleukodystrophy	30.1	SCP2, MBP, F8, HSD17B4, ABCD1, ABCD2
15	abetalipoproteinemia	29.9	LDLR, MTTP, APOA1, APOB, APOE
16	hyperalphalipoproteinemia	29.8	LDLR, CETP, APOA1, APOA2, APOB, PLTP
17	arterial occlusive disease	29.5	SERPINC1, SERPINE1, MTHFR, FGA, APOH, F5
18	hyperhomocysteinemia	29.5	SERPINC1, SERPINE1, MTHFR, CETP, APOA1, APOB
19	septic shock	29.5	PIK3C2A, SFTPB, SERPINC1, SERPINE1, FGA, MBL2
20	antithrombin iii deficiency	29.5	SERPINC1, MTHFR, FGA, APOH, F5, F2
21	purpura	29.3	RECK, SERPINC1, SERPINE1, MTHFR, CD9, IL2
22	protein c deficiency	29.2	SFTPC, SERPINC1, SERPINE1, MTHFR, FGA, APOH
23	disseminated intravascular coagulation	28.6	PIK3C2A, SERPINC1, SERPINE1, FGA, IFNA1, F9
24	familial hypercholesterolemia	28.2	LDLR, MTTP, CETP, APOA1, APOB, APOE
25	hemolytic anemia	28.1	PIGA, APOH, F3, SPTB, RHD, STOM
26	bernard-soulier syndrome	28.1	RECK, FGA, F9, F8, F2
27	thrombasthenia	28.0	RECK, MTHFR, CD9, F9, F8, F5
28	hepatitis	27.9	RBP4, CD58, IFNA1, F2, ALB, PON1
29	ataxia with isolated vitamin e deficiency	27.9	FXN, APOB, TTPA
30	glanzmann's thrombasthenia	27.8	RECK, CD9, F9, F8, F3, PF4
31	spinal muscular atrophy	27.8	LMNA, BLZF1, DMD, SMN1, GAA
32	dystrophinopathies	27.7	CAV3, DYSF, DMD, DES, NEB
33	paroxysmal nocturnal hemoglobinuria	27.6	PIGA, RECK, CD58, FCGR3B, PLCG1
34	acute fatty liver of pregnancy	27.6	SERPINC1, F3, F2, ALB, HADHA
35	wiskott-aldrich syndrome	27.5	SH2D1A, RECK, WAS, VAV1, BLZF1, ITK
36	cetp deficiency	27.4	LDLR, CETP, APOA1, APOA2, APOB, APOE
37	osteonecrosis	27.3	SERPINC1, SERPINE1, MTHFR, APOA1, APOB, APOH
38	hemoglobinuria	26.9	PIGA, PIK3C2A, RECK, MTHFR, CD58, FCGR3B
39	glomerulopathy	26.4	LDLR, IL2RA, APOB, APOE, F5, ALB
40	hypercholesterolemia	26.2	PIK3C2A, LRP1, RBP4, SERPINE1, LDLR, MTHFR
41	stomatitis	26.1	LMAN1, BLZF1, IL2, IFNA1, IFNG, EIF2AK2
42	seizures	26.1	PIK3C2A, MTHFR, MOGS, FCGR3B, APOE, IFNA1
43	hepatitis b	26.0	CD58, IL2RA, MBL2, IFNA1, IFNG, F2
44	myopathy	25.6	PIK3C2A, LMNA, BLZF1, LAMA2, LAMP2, XK
45	thrombocytopenia	25.6	PIGA, PIK3C2A, RECK, WAS, SERPINC1, SERPINE1
46	sinusitis	25.5	SERPINC1, SERPINE1, MTHFR, CDKN1A, IL2, IL2RA
47	immunodeficiency	25.5	WAS, BLZF1, FCGR3B, IL2, IL2RA, APOH
48	muscular dystrophy	25.5	PIK3C2A, LMNA, LAMA2, XK, CDKN1A, F5
49	muscular atrophy	25.5	LMNA, BLZF1, APOE, IFNG, CASP3, CAV3
50	ataxia	25.1	LRP1, SERPINE1, BLZF1, SCP2, XPA, CEP290

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 amino acids, amino acids,essential, zinc amino acid chelate

Genetic tests related to protein s deficiency:

id	Genetic test	Affiliating Genes
1	Protein S Deficiency clinical/research	PROS1

MalaCards organs/tissues related to protein s deficiency:

²²

MGI Mouse Phenotypes related to protein s deficiency:

²⁵ (show all 23)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	9.9	SMN1, DMD, APOE, MGP, SFTPC
2	endocrine/exocrine gland phenotype	MP:0005379	9.4	HSD17B4, DMD, ABCD1, ABCD2, PSAP, WRN
3	no phenotypic analysis	MP:0003012	9.4	SMN1, DMD, PTPN11, TPP2, TP53, CANX
4	renal/urinary system phenotype	MP:0005367	9.1	ACTN4, C4B, PLG, CTSZ, TGM2, PSAP
5	hematopoietic system phenotype	MP:0005397	9.1	MAP3K3, RIPK1, ID2, CAPN1, CASP9, TPP2
6	embryogenesis phenotype	MP:0005380	9.1	DLD, CYCS, SMN1, PLCG1, PDHA1, TTPA
7	liver/biliary system phenotype	MP:0005370	8.6	IFNG, F9, HSD17B4, TP53, DMD, SPTB
8	reproductive system phenotype	MP:0005389	8.6	PDHA1, ABCD1, ACOX1, AGPS, TTPA, PSAP
9	nervous system phenotype	MP:0003631	8.3	PIGA, LRP1, RECK, F3, F2, HSD17B4
10	digestive/alimentary phenotype	MP:0005381	8.2	F2, HSD17B4, CASP3, DMD, SMN1, PLG
11	adipose tissue phenotype	MP:0005375	8.2	TP53, PTPN11, DMD, SPTB, PLIN2, NEB
12	skeleton phenotype	MP:0005390	7.9	TP53, PTPN11, DMD, CYCS, SPP1, SMN1
13	integument phenotype	MP:0010771	7.9	PLIN2, PLCG1, SMN1, CTSC, PTPN11, TPP2
14	tumorigenesis	MP:0002006	7.7	TP53, PTPN11, SPP1, CTSZ, PLG, EIF2AK2
15	muscle phenotype	MP:0005369	7.3	LRP1, RBP4, LMNA, BCKDK, DYSF, PTPN11
16	vision/eye phenotype	MP:0005391	6.7	PLTP, DMD, PTPN11, TP53, CASP3, HSD17B4
17	behavior/neurological phenotype	MP:0005386	6.6	ABCD1, NDRG4, SMN1, CTSC, SPP1, CYCS
18	immune system phenotype	MP:0005387	5.9	LAMP2, XPA, XPR1, CD9, ITGAX, ITK
19	growth/size phenotype	MP:0005378	5.2	PSAP, OCRL, NPC2, SLC4A1, NEB, RIPK1
20	mortality/aging	MP:0010768	5.1	RECK, SFTPB, SFTPC, SERPINC1, SERPINE1, LMAN1
21	cardiovascular system phenotype	MP:0005385	4.9	LAMP2, FXN, CDKN1A, CDK2, MGP, FGA
22	cellular phenotype	MP:0005384	4.6	NPC2, SLAMF1, SLC4A1, RIPK1, WRN, EHHADH
23	homeostasis/metabolism phenotype	MP:0005376	4.5	DES, PSAP, PROS1, PROC, OCRL, SOAT1

Articles related to protein s deficiency:

(show top 50)    (show all 242)

id	Title	Authors	Year	Affiliating Genes
1	Nucleotide excision repair by mutant xeroderma pigmen tosum group A (XPA) proteins with deficiency in interaction with RPA. (21148310)	Saijo M.... Tanaka K.	2011	XPA
2	Alpha-actinin-4 and CLP36 protein deficiencies contri bute to podocyte defects in multiple human glomerulopathies. (21680739)	Liu Z.... Wu C.	2011	ACTN4, PDLIM1
3	Genetic predisposition of white matter infarction wit h protein S deficiency and R355C mutation. (21172841)	Leung T.W.... Wong K.S.	2010	PROS1
4	Typical cMRI pattern as diagnostic clue for D-bifunct ional protein deficiency without apparent biochemical abnormalities in plasma. (20949532)	GrA... GAortner J.	2010	HSD17B4
5	Similar hypercoagulable state and thrombosis risk in type I and type III protein S-deficient individuals from mixed type I/III famil ies. (20378562)	Castoldi E.... Simioni P.	2010	PROS1
6	Clinical and molecular aspects of Japanese patients w ith mitochondrial trifunctional protein deficiency. (19699128)	Purevsuren J.... Yamaguchi S.	2009	HADHB
7	PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations. (18435454)	ten Kate M.K.... van der Meer J.	2008	PROS1
8	Confirmation of inherited protein S deficiency by PROS1 mutational screening: Identification of three novel PROS1 mutations and haplotype analysis of p.Q279X recurrence. (18841302)	Hurtado B.... Sala N.	2008	PROS1
9	Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations. (18433462)	Heeb M.J.... Fedullo P.F.	2008	PROS1
10	Molecular basis of protein S deficiency. (17849042)	Garcia de Frutos P.... Sala N.	2007	PROS1
11	Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. (17303423)	Cooper S.T.... North K.N.	2007	DES, DMD, DYSF
12	Epididymal P34H protein deficiency in men evaluated for infertility. (17434498)	Moskovtsev S.I.... Mullen J.B.	2007	DCXR
13	Anticoagulant therapy after retinal vein occlusion in patients with protein S deficiency (Protein S deficiency with homozygous facto r V Leiden mutation in central retinal vein occlusion. Vol. 42[4]). (18059510)	Rehak M.... Rehak J.	2007	F5
14	Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. (16363235)	Johansson A.M.... Hallden C.	2005	PROS1
15	The incidence of venous thromboembolism in carriers of antithrombin, protein C or protein S deficiency associated with the HR2 haplotype of factor V: a family cohort study. (15978097)	Tormene D.... Simioni P.	2005	SERPINC1, F5
16	Apolipoprotein composition of HDL in cholesteryl ester transfer protein deficiency. (14657195)	Asztalos B.F.... Mabuchi H.	2004	APOE, APOA1, APOA2
17	A study of the genetic basis of C4A protein deficiency. Detection of C4A gene deletion by long-range PCR and its associated haplotypes. (15794202)	Kristjansdottir H.... Steinsson K.	2004	C4A
18	Warfarin skin necrosis associated with protein S deficiency and a mutation in the methylenetetrahydrofolate reductase gene. (14723717)	Byrne J.S.... Murphy G.M.	2004	MTHFR
19	SLAM-associated protein deficiency causes imbalanced early signal transduction and blocks downstream activation in T cells from X-linked lymphoproliferative disease patients. (12766168)	Sanzone S.... Parolini O.	2003	IL2RA, IL2, PLCG1
20	Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. (12948743)	Ferdinandusse S.... Wanders R.J.	2003	HSD17B4, ACOX1
21	Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis. (14636652)	SA!nchez-LA^pez J.Y.... Perea F.J.	2003	SPTB, RHD
22	Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency. (12351389)	Rezende S.M.... Simmonds R.E.	2002	PROS1
23	Genetic and phenotypic variability between families with hereditary protein S deficiency. (11858485)	Rezende S.M.... Simmonds R.E.	2002	PROS1
24	Cutaneous necrosis revealing the coexistence of an antiphospholipid syndrome with acquired protein S deficiency, factor V Leiden and hyperhomocysteinemia. (11978573)	Combemale P.... Berruyer M.	2002	F5
25	Warfarin-induced skin necrosis associated with Factor V Leiden and protein S deficiency. (11683790)	Ng T.... Tillyer M.L.	2001	F5
26	Clinical paroxysmal nocturnal hemoglobinuria is the result of expansion of glycosyl-phosphatidyl-inositol-anchored protein-deficient clone in the condition of deficient hematopoiesis. (11372757)	Pakdeesuwan K.... Wanachiwanawin W.	2001	PIGA
27	Protein S deficiency in three patients with thrombosis (11579499)	Minami R.... Nawata H.	2001	SHBG
28	Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families. (11776305)	Andersen B.D.... Thorsen S.	2001	PROS1
29	Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. (9915948)	van Grunsven E.G.... Wanders R.J.	1999	HSD17B4, EHHADH
30	Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activated protein C resistance: a multicenter collaborative family study. (10195932)	Bucciarelli P.... Quintavalla R.	1999	SERPINC1, F5
31	Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. (10613647)	Hermida J.... Mannucci P.M.	1999	PROS1
32	A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort. (9657428)	Beauchamp N.J.... Peake I.R.	1998	PROS1
33	Severe preeclampsia associated with coinheritance of factor V Leiden mutation and protein S deficiency. (9572171)	Kahn S.R.	1998	F5
34	Familial hypercholesterolemia with cholesteryl ester transfer protein deficiency. (9678686)	Kamigaki M.... Emi M.	1998	CETP
35	Unresponsiveness to interferon associated with STAT1 protein deficiency in a gastric adenocarcinoma cell line. (9769120)	Abril E.... Ruiz-Cabello F.	1998	IFNG, IFNA1, SOAT1
36	Clinical characteristics of double heterozygotes with familial hypercholesterolemia and cholesteryl ester transfer protein deficiency. (9242969)	Haraki T.... Mabuchi H.	1997	CETP
37	A hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency. (9375743)	Mustafa S.... Mannhalter C.	1997	PROS1
38	Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele. (8865274)	Isaacs J.D.... Strauss A.W.	1996	HADHA
39	Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. (8943854)	Simmonds R.E.... Lane D.A.	1996	PROS1
40	A remarkable increase in high-density lipoprotein-cholesterol by alcohol intake in a homozygous patient with cholesteryl ester transfer protein deficiency. (7695218)	Nishiwaki M.... Haga H.	1995	CETP
41	Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating t ype I and type III deficiencies to be phenotypic variants of the same genetic d isease. (7780139)	ZAPller B.... DahlbAock B.	1995	C4BPA
42	Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol. (7962532)	Inazu A.... Moriyama Y.	1994	CETP
43	Thrombotic risk of women with hereditary antithrombin III-, protein C- and protein S-deficiency taking oral contraceptive medication. The GTH Study Group on Natural Inhibitors. (8091378)	Pabinger I.... Schneider B.	1994	SERPINC1
44	Anticardiolipin and acquired protein S deficiency in early childhood. (7946553)	Couper R.T.... Maxwell F.C.	1994	APOH
45	Hereditary protein S deficiency and familial thrombosis. A review with description of a Danish family with protein S deficiency (8317013)	Ingerslev J.... Thelle T.	1993	SERPINC1
46	Protein S deficiency in men with long-term human immu nodeficiency virus infection. (8461466)	Stahl C.P.... Evatt B.L.	1993	CD9
47	Human trifunctional protein deficiency: a new disorde r of mitochondrial fatty acid beta-oxidation. (1445348)	Wanders R.J.... Saudubray J.M.	1992	HADHA
48	Free protein S deficiency in a family with venous thr ombosis. (2146406)	Lauer C.G.... Alving B.M.	1990	SERPINC1
49	Hereditary protein S deficiency in young adults with arterial occlusive disease. (2148653)	Allaart C.F.... Briet E.	1990	SERPINC1, PROS1
50	Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. (2586614)	Brown M.L.... Mabuchi H.	1989	CETP

Genes related to protein s deficiency according to GeneCards:

(show top 50)    (show all 149)

id	Symbol	Description	Score	GeneCards Section Context
1	HADHB	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	11.0	Summaries, Publications
2	HADHA	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	11.0	Summaries, Publications
3	HSD17B4	hydroxysteroid (17-beta) dehydrogenase 4	11.0	Publications, Orthologs, Summaries
4	MPST	mercaptopyruvate sulfurtransferase	11.0	Summaries
5	SCARB2	scavenger receptor class B, member 2	11.0	Summaries
6	EHHADH	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	11.0	Publications
7	PROS1	protein S (alpha)	11.0	Publications
8	F5	coagulation factor V (proaccelerin, labile factor)	11.0	Publications
9	MBL2	mannose-binding lectin (protein C) 2, soluble	11.0	Publications
10	SERPINC1	serpin peptidase inhibitor, clade C (antithrombin), member 1	11.0	Publications
11	ACOX1	acyl-CoA oxidase 1, palmitoyl	11.0	Publications
12	SCP2	sterol carrier protein 2	11.0
13	PROSP	protein S pseudogene (beta)	11.0
14	C20orf79	chromosome 20 open reading frame 79	11.0	Publications
15	CTSZ	cathepsin Z	11.0
16	CETP	cholesteryl ester transfer protein, plasma	11.0	Publications
17	TTPA	tocopherol (alpha) transfer protein	11.0	Publications
18	LAMP2	lysosomal-associated membrane protein 2	11.0
19	PLTP	phospholipid transfer protein	11.0	Publications
20	FXN	frataxin	11.0	Publications
21	RHD	Rh blood group, D antigen	11.0	Publications
22	SPTB	spectrin, beta, erythrocytic	11.0	Publications
23	GM2A	GM2 ganglioside activator	11.0	Publications
24	SFTPB	surfactant protein B	11.0	Publications
25	CTSC	cathepsin C	11.0
26	SLC25A20	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	11.0
27	CAV3	caveolin 3	11.0	Publications
28	C4BPA	complement component 4 binding protein, alpha	11.0	Publications
29	C4A	complement component 4A (Rodgers blood group)	11.0	Publications
30	LMAN1	lectin, mannose-binding, 1	11.0
31	EIF2AK1	eukaryotic translation initiation factor 2-alpha kinase 1	11.0
32	PIGA	phosphatidylinositol glycan anchor biosynthesis, class A	11.0	Publications
33	F3	coagulation factor III (thromboplastin, tissue factor)	11.0	Publications
34	GAA	glucosidase, alpha; acid	11.0
35	SMN1	survival of motor neuron 1, telomeric	11.0	Publications
36	DYSF	dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)	11.0	Publications
37	F2	coagulation factor II (thrombin)	11.0	Publications
38	F8	coagulation factor VIII, procoagulant component	11.0
39	F9	coagulation factor IX	11.0
40	MLH1	mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	11.0	Publications
41	MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	11.0	Publications
42	LAMA2	laminin, alpha 2	11.0
43	RBP4	retinol binding protein 4, plasma	11.0
44	SERPINE1	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	11.0	Publications
45	GNAS	GNAS complex locus	11.0
46	FGA	fibrinogen alpha chain	11.0	Publications
47	CAPN3	calpain 3, (p94)	11.0
48	APOH	apolipoprotein H (beta-2-glycoprotein I)	11.0	Publications
49	CPT2	carnitine palmitoyltransferase 2	11.0
50	DMD	dystrophin	11.0	Publications

Pathways related to protein s deficiency according to GeneDecks:

(show all 39)

id	Pathway	Score	Top Affiliating Genes
1	Intrinsic Prothrombin Activation Pathway36	11.0	PROC, PROS1, F2, F5, F8, F9
2	Blood Coagulation Cascade36	10.9	PROC, PROS1, TFPI, F2, F3, F5
3	Extrinsic Prothrombin Activation Pathway36	10.9	PROC, PROS1, TFPI, F2, F3, F5
4	Lysosome20	10.9	GAA, NPC2, PSAP, CTSC, CTSZ, GM2A
5	Warfarin Pathway, Pharmacodynamics34	10.9	PROC, PROS1, F2, F9, MGP
6	Fatty acid metabolism20	10.9	HADHB, HADHA, HADH, EHHADH, CPT2, ACOX1
7	Peroxisome20	10.8	EHHADH, SLC25A17, AGPS, ACOX1, ABCD3, ABCD2
8	Blood Coagulation Signaling Pathways37	10.7	PROC, PROS1, TFPI, PLG, F2, F3
9	Immune response_Lectin induced complement pathway41	10.7	ITGAX, MBL2, C4A, C4B, C4BPA, C4BPB
10	Immune response Lectin Induced complement pathway10	10.7	C4BPB, SERPING1, ITGAX, MBL2, C4A, C4B
11	Complement and coagulation cascades20	10.6	SERPINC1, PROC, PROS1, TFPI, C4BPB, C4BPA
12	Immune response Classic complement pathway10	10.6	C4BPB, C4BPA, C4B, C4A, ITGAX, SERPING1
13	Immune response_Classical complement pathway41	10.6	C4BPB, C4BPA, C4B, C4A, ITGAX, SERPING1
14	PPAR signaling pathway20	10.5	EHHADH, CPT2, ACOX1, PLTP, APOA2, APOA1
15	Valine, leucine and isoleucine degradation20	10.5	DLD, EHHADH, HADH, HADHA, HADHB
16	Pertussis20	10.4	C4BPB, C4BPA, C4B, C4A, CASP3, SERPING1
17	Protein processing in endoplasmic reticulum20	10.3	EIF2AK1, EIF2AK2, EDEM1, CALR, CANX, CAPN1
18	Caspase Cascade36	10.2	CAPN1, CAPN3, LMNA
19	Apoptosis and survival_Caspase cascade41	10.0	CASP3, CASP9, CYCS, RIPK1, LMNA
20	Cell surface interactions at the vascular wall38	10.0	PROC, PLCG1, F2, ITGAX, CD58
21	Apoptosis and survival Caspase cascade10	10.0	RIPK1, LMNA, CASP3, CASP9, CYCS
22	TNF Signaling36	10.0	RIPK1, CYCS, CASP9, CASP3, MAP3K3, MAP3K2
23	Nur77 Signaling in T-Cell36	10.0	MAP3K2, MAP3K3, CASP3, CASP9, CYCS
24	Apoptosis and survival FAS signaling cascades10	9.9	RIPK1, CYCS, CASP9, CASP3, LMNA
25	Platelet activation, signaling and aggregation38	9.9	VAV1, FGA, APOA1, PLG, PF4
26	Apoptosis and survival_FAS signaling cascades41	9.9	LMNA, CASP3, CASP9, CYCS, RIPK1
27	Metabolic pathways20	9.8	ACOX1, AGPS, DCXR, OCRL, PON1, EHHADH
28	Selected targets of C/EBPalpha10	9.7	ALB, F9, APOB, CETP, SERPINC1
29	Statin Pathway, Pharmacodynamics34	9.6	SOAT1, PLTP, APOE, APOB, APOA1, MTTP
30	Apoptosis through Death Receptors36	9.5	RIPK1, CYCS, TP53, CASP9, CASP3, MAP3K3
31	Apoptotic Pathways Triggered By HIV136	9.4	CASP3, CASP9, TP53, CYCS, RIPK1
32	Metabolism of lipids and lipoproteins38	9.3	ABCD1, ACOX1, AGPS, PSAP, SLC25A17, HADH
33	TRKA Signaling36	9.3	PLCG1, CYCS, TP53, CASP9, CASP3, MAP3K3
34	Selected targets of HNF110	9.3	PROC, ALB, F8, APOH, APOB, APOA2
35	Apoptosis Signaling Pathways37	9.2	RIPK1, CYCS, TP53, CASP9, CASP3, CDKN1A
36	p53 signaling pathway20	9.2	CYCS, TP53, CASP9, CASP3, CDK2, CDKN1A
37	Natural killer cell mediated cytotoxicity20	9.2	PLCG1, PTPN11, CASP3, IFNG, IFNA1, FCGR3B
38	ICos-ICosL Pathway in T-Helper Cell36	9.1	IL2RA, IL2, ITK, VAV1, PIK3C2A, PLCG1
39	Measles20	9.0	SLAMF1, EIF2AK1, EIF2AK2, TP53, IFNG, IFNA1

Compounds related to protein s deficiency according to GeneDecks:

(show top 50)    (show all 326)

id	Compound	Score	Top Affiliating Genes
1	threonine32	10.8	SH2D1A, SFTPB, ITK, F9, GNAS, SPTB
2	acyl-coa32	10.5	SCP2, MTTP, HSD17B4, PLIN2, ABCD1, ABCD3
3	sucrose32 9 18 9	13.3	LRP1, RECK, SFTPB, RBP4, BLZF1, LAMP2
4	gamma-carboxyglutamic acid32	10.3	MGP, F9, F5, F3, F2, SPP1
5	citrate32	10.0	PIK3C2A, BLZF1, F9, F8, CANX, PF4
6	palmitate32	10.0	SFTPB, SFTPC, SCP2, LDLR, CETP, APOA1
7	phosphatidylserine32 9 9	12.0	RECK, SCP2, CDK2, FCGR3B, MBL2, F9
8	polyacrylamide32	9.9	RECK, SFTPB, RBP4, BLZF1, SCP2, CETP
9	glucose32	9.8	LMAN1, FXN, MOGS, CANX, CALR, DMD
10	lysine32	9.8	RECK, SFTPC, LMAN1, LDLR, CD58, MGP
11	sterol32	9.4	LRP1, BLZF1, SCP2, LDLR, MTTP, CETP
12	leucine32	9.3	LRP1, RECK, SFTPB, SFTPC, RBP4, LMNA
13	fatty acid32	9.3	PIK3C2A, LRP1, RECK, SFTPB, SFTPC, RBP4
14	warfarin32 34 9 18 9	13.2	PIK3C2A, SERPINC1, MTHFR, MGP, FGA, APOB
15	aspartate32	9.1	PIK3C2A, RBP4, LDLR, CETP, APOA1, APOE
16	polysaccharide32	9.0	RECK, SERPINC1, LMAN1, SCARB2, MOGS, CD9
17	aspirin32 34 18	11.0	SERPINC1, SERPINE1, LDLR, MTHFR, CETP, CD9
18	oxygen32 18	9.9	PIK3C2A, SFTPB, SFTPC, RBP4, BLZF1, FXN
19	dextran sulfate32	8.8	SERPINC1, LDLR, CETP, CD9, APOA1, APOB
20	glutamate32	8.7	BLZF1, LDLR, MTHFR, CDK2, MGP, APOH
21	homocysteine32 18	9.7	PIK3C2A, SERPINC1, SERPINE1, CETP, APOA1, APOB
22	kininogen32	8.7	SERPINC1, SERPINE1, APOA1, APOB, APOH, F9
23	polyethylene glycol32	8.6	SERPINC1, CD9, APOA1, APOE, MBP, F8
24	cholesterol ester32	8.6	LRP1, LDLR, MTTP, CETP, APOA1, APOA2
25	phospholipid32	8.5	SFTPB, SFTPC, RBP4, BLZF1, SCP2, LDLR
26	estrogen32	8.5	RBP4, SERPINC1, SERPINE1, MTHFR, MTTP, CETP
27	cyclosporin a32 42	9.4	PIK3C2A, RECK, VAV1, BLZF1, LDLR, MTHFR
28	phosphatidylcholine32	8.4	SFTPB, SFTPC, SCP2, LDLR, MTTP, CETP
29	creatinine32	8.3	RBP4, SERPINC1, LMNA, MTHFR, LAMA2, CDK2
30	alpha tocopherol32	8.2	RBP4, LDLR, MTHFR, CETP, FXN, IL2RA
31	simvastatin32 34 42 9 18 9	13.1	PIK3C2A, RBP4, SERPINE1, LDLR, MTTP, CETP
32	atp32	7.8	PIK3C2A, RECK, WAS, SFTPB, LMNA, BLZF1
33	vegf32	7.8	PIK3C2A, LRP1, RECK, SFTPB, SFTPC, SERPINC1
34	prednisolone32 9 9	9.7	PIK3C2A, FCGR3B, IL2, IL2RA, APOB, APOH
35	h2o232	7.3	BLZF1, LDLR, FCGR3B, IL2RA, APOA1, APOB
36	dexamethasone32 42 34 9 9	11.3	LRP1, SFTPB, SFTPC, RBP4, SERPINC1, SERPINE1
37	lactate32	7.1	PIK3C2A, RECK, RBP4, BLZF1, FGA, APOA1
38	calcium32 9 18 9	10.1	PIK3C2A, LRP1, SH2D1A, RECK, WAS, SFTPB
39	heparin32 9 18 9	10.0	PIK3C2A, LRP1, RECK, SERPINE1, LAMA2, CETP
40	fibrinogen32	7.0	PIK3C2A, RECK, SFTPB, SFTPC, SERPINC1, SERPINE1
41	cysteine32	6.9	LRP1, RECK, SFTPB, SFTPC, RBP4, BLZF1
42	cholesterol32 9 18 9	9.9	PIK3C2A, LRP1, RECK, SFTPB, SFTPC, RBP4
43	testosterone32 9 18 9	9.6	PIK3C2A, RBP4, SERPINC1, SERPINE1, BLZF1, SCP2
44	cycloheximide32	6.6	SFTPB, SFTPC, SERPINE1, BLZF1, LDLR, CDKN1A
45	alanine32	6.4	PIK3C2A, RBP4, SERPINC1, SERPING1, LMNA, BLZF1
46	arginine32	6.2	PIK3C2A, RECK, SFTPB, SFTPC, SERPINC1, LMNA
47	tyrosine32	6.0	PIK3C2A, LRP1, SH2D1A, RECK, WAS, SFTPB
48	lipid32	5.5	PIK3C2A, LRP1, RECK, WAS, SFTPB, SFTPC
49	retinoic acid32 42 18	7.2	LRP1, SFTPB, SFTPC, RBP4, SERPINE1, LMNA
50	serine32	4.4	LRP1, RECK, WAS, SFTPB, RBP4, SERPINC1

Cellular components related to protein s deficiency according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	peroxisome	GO:005777	10.6	EHHADH, SLC25A17, AGPS, ACOX1, ABCD3, ABCD2
2	lysosome	GO:005764	10.5	NPC2, CTSC, CTSZ, GM2A, LAMP2, LDLR
3	peroxisomal membrane	GO:005778	10.5	SLC25A17, AGPS, ACOX1, ABCD3, ABCD2, ABCD1
4	high-density lipoprotein particle	GO:034364	9.8	PON1, APOH, APOE, APOA2, APOA1, CETP
5	platelet alpha granule lumen	GO:031093	9.7	PROS1, ACTN4, PF4, PLG, ALB, F5
6	chylomicron	GO:042627	9.6	APOH, APOE, APOB, APOA2
7	mitochondrion	GO:005739	9.6	SLC25A17, PSAP, TGM2, AGPS, SLC25A20, CPT2
8	very-low-density lipoprotein particle	GO:034361	9.5	APOH, APOE, APOB, APOA2, APOA1
9	endoplasmic reticulum lumen	GO:005788	9.5	PROC, PDIA2, CALR, CANX, F2, F9
10	protein complex	GO:043234	8.8	ACTN4, SPTB, DMD, PTPN11, TP53, CAPN3
11	extracellular space	GO:005615	7.5	PON1, F3, F2, ALB, CALR, SPP1
12	extracellular region	GO:005576	7.1	C4B, C4A, SHBG, PF4, PLIN2, PLG
13	plasma membrane	GO:005886	7.0	DYSF, CAV3, CASP3, CAPN1, CAPN3, GNAS
14	cytosol	GO:005829	6.0	PLCG1, SPTB, CYCS, DMD, PTPN11, TPP2

Biological processes related to protein s deficiency according to GeneDecks:

(show all 41)

id	Name	GO ID	Score	Top Affiliating Genes
1	unsaturated fatty acid metabolic process	GO:033559	10.9	HSD17B4, ABCD1, ACOX1, SCP2
2	alpha-linolenic acid metabolic process	GO:036109	10.9	SCP2, HSD17B4, ABCD1, ACOX1
3	fatty acid beta-oxidation using acyl-CoA oxidase	GO:033540	10.9	ACOX1, SCP2, HSD17B4, ABCD1
4	blood coagulation, intrinsic pathway	GO:007597	10.9	SERPING1, APOH, F9, F8, F2
5	peptidyl-glutamic acid carboxylation	GO:017187	10.8	F9, F2, PROS1, PROC
6	regulation of complement activation	GO:030449	10.8	PROS1, C4BPB, C4BPA, C4B, C4A
7	fatty acid beta-oxidation	GO:006635	10.7	HADHB, HADHA, HADH, EHHADH, CPT2, SLC25A17
8	complement activation, classical pathway	GO:006958	10.7	C4BPB, C4BPA, C4B, C4A, MBL2, SERPING1
9	post-translational protein modification	GO:043687	10.7	PROC, PROS1, EDEM1, CALR, CANX, F2
10	blood coagulation, extrinsic pathway	GO:007598	10.6	TFPI, F3, F9
11	fibrinolysis	GO:042730	10.6	PROS1, PLG, F2, SERPING1, SERPINE1
12	negative regulation of fibrinolysis	GO:051918	10.6	PLG, F2, APOH, SERPINE1
13	very long-chain fatty acid catabolic process	GO:042760	10.6	ABCD3, ABCD2, ABCD1
14	negative regulation of blood coagulation	GO:030195	10.5	PROC, APOH, APOE, SERPINE1
15	triglyceride metabolic process	GO:006641	10.5	PTPN11, CAV3, APOH, APOE, APOA2, CETP
16	cellular lipid metabolic process	GO:044255	10.4	SLC25A17, SLC25A20, CPT2, HADH, HADHA, HADHB
17	response to hyperoxia	GO:055093	10.4	CDKN1A, SERPINE1, SFTPC, SFTPB
18	muscle organ development	GO:007517	10.4	GAA, NEB, TCF12, DMD, CAV3, CAPN3
19	cellular response to nitric oxide	GO:071732	10.2	SFTPC, SFTPB, CDK2
20	high-density lipoprotein particle remodeling	GO:034375	10.1	APOE, APOA2, APOA1, CETP
21	cholesterol efflux	GO:033344	10.1	NPC2, SOAT1, APOE, APOA2, APOA1
22	reverse cholesterol transport	GO:043691	10.1	APOE, APOA2, APOA1, CETP
23	phospholipid transport	GO:015914	10.1	NPC2, CETP, LDLR
24	cholesterol transport	GO:030301	10.1	NPC2, APOB, APOA1, CETP, LDLR
25	high-density lipoprotein particle assembly	GO:034380	10.0	APOE, APOA2, APOA1
26	proteolysis	GO:006508	10.0	CTSZ, CTSC, PLG, PROS1, PROC, DLD
27	response to UV	GO:009411	9.9	RPAIN, CASP9, CASP3, CDKN1A, XPA
28	high-density lipoprotein particle clearance	GO:034384	9.9	APOE, APOA2, APOA1
29	leukocyte migration	GO:050900	9.9	PROC, PROS1, PLCG1, PTPN11, F2, APOB
30	positive regulation of cholesterol esterification	GO:010873	9.8	APOE, APOA2, APOA1
31	response to toxin	GO:009636	9.8	PON1, TTPA, MBP, CDKN1A, MPST, XPA
32	cholesterol homeostasis	GO:042632	9.8	NPC2, SOAT1, CAV3, APOE, APOB, APOA2
33	cholesterol metabolic process	GO:008203	9.7	NPC2, SOAT1, APOE, APOB, APOA2, APOA1
34	positive regulation of reactive oxygen species metabolic process	GO:2000379	9.6	RIPK1, TP53, F2, CDKN1A
35	induction of apoptosis by intracellular signals	GO:008629	9.1	CDKN1A, CASP3, CASP9, TP53, CYCS
36	platelet degranulation	GO:002576	9.1	ALB, PLG, PF4, ACTN4, PSAP, PROS1
37	lipoprotein metabolic process	GO:042157	8.9	ALB, APOE, APOB, APOA2, APOA1, CETP
38	platelet activation	GO:030168	8.9	F2, ALB, PLG, PF4, ACTN4, PSAP
39	lipid metabolic process	GO:006629	8.9	ALB, PLTP, ACOX1, TTPA, OCRL, APOE
40	small molecule metabolic process	GO:044281	7.9	AGPS, ACOX1, ABCD1, PDHX, PDHA1, PLIN2
41	blood coagulation	GO:007596	7.1	WAS, F2, ALB, GNAS, TP53, PTPN11

Molecular functions related to protein s deficiency according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	3-hydroxyacyl-CoA dehydrogenase activity	GO:003857	10.8	HADHB, HADHA, HADH, EHHADH, HSD17B4
2	endopeptidase inhibitor activity	GO:004866	10.6	PROS1, TFPI, C4B, C4A, RECK
3	sterol binding	GO:032934	10.5	C20orf79, HSD17B4, SCP2
4	lipid transporter activity	GO:005319	10.3	APOE, APOA2, CETP, MTTP
5	enoyl-CoA hydratase activity	GO:004300	10.3	HADHB, HADHA, EHHADH
6	cholesterol binding	GO:015485	10.2	NPC2, SOAT1, APOA2, APOA1, CETP
7	lipid binding	GO:008289	10.2	PSAP, PLTP, APOH, APOE, APOA2, CETP
8	cholesterol transporter activity	GO:017127	10.0	APOB, APOA2, APOA1, CETP
9	phosphatidylcholine-sterol O-acyltransferase activator activity	GO:060228	9.8	APOE, APOA2, APOA1
10	calcium ion binding	GO:005509	9.5	CALR, PLCG1, EDEM1, ACTN4, PROS1, PROC
11	enzyme binding	GO:019899	9.4	EHHADH, NPC2, TAL1, ABCD1, TP53, APOB
12	protein homodimerization activity	GO:042803	9.4	ABCD3, EIF2AK1, ACTN4, PON1, SLC4A1, ABCD2
13	protein binding	GO:005515	3.8	HADHB, EDEM1, PDIA2, PLG, PLCG1, SPTB