MCID: PRT014
MIFTS: 46

Protein S Deficiency

Categories: Blood diseases, Cardiovascular diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Protein S Deficiency

MalaCards integrated aliases for Protein S Deficiency:

Name: Protein S Deficiency 12 73 20 43 54 44 15 39 70
Protein S Deficiency Disease 12 29 6
Hereditary Thrombophilia Due to Protein S Deficiency 43

Classifications:



External Ids:

Disease Ontology 12 DOID:2451
MeSH 44 D018455
NCIt 50 C99026
SNOMED-CT 67 1563006
ICD10 32 D68.59
UMLS 70 C0242666

Summaries for Protein S Deficiency

MedlinePlus Genetics : 43 Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.Individuals with mild protein S deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Other factors can raise the risk of abnormal blood clots in people with mild protein S deficiency. These factors include increasing age, surgery, immobility, or pregnancy. The combination of protein S deficiency and other inherited disorders of blood clotting can also influence risk. Many people with mild protein S deficiency never develop an abnormal blood clot, however.In severe cases of protein S deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots within small blood vessels throughout the body. These blood clots disrupt normal blood flow and can lead to death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body and is often noticeable as large, purple skin lesions. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.

MalaCards based summary : Protein S Deficiency, also known as protein s deficiency disease, is related to endocarditis and sticky platelet syndrome. An important gene associated with Protein S Deficiency is PROS1 (Protein S), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include skin, endothelial and heart, and related phenotypes are cardiovascular system and homeostasis/metabolism

GARD : 20 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.

Wikipedia : 73 Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a... more...

Related Diseases for Protein S Deficiency

Diseases related to Protein S Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 368)
# Related Disease Score Top Affiliating Genes
1 endocarditis 30.3 SERPINC1 F2 APOH
2 sticky platelet syndrome 30.2 SERPINC1 F5
3 central retinal artery occlusion 30.2 SERPINC1 MTHFR F2
4 esophageal varix 30.2 SERPINC1 F3 F2
5 compartment syndrome 30.2 SERPINC1 F3 F2
6 osteonecrosis 30.2 SERPINC1 MTHFR F2
7 abducens nerve disease 30.1 SERPINC1 F2
8 nephrotic syndrome 30.1 SERPINC1 FGA F3 F2
9 coronary thrombosis 30.1 SERPINC1 FGA F3
10 sagittal sinus thrombosis 30.1 THBD SERPINC1 F5 F3 F2
11 moyamoya disease 1 30.0 SERPINC1 MTHFR F3 F2
12 sudden sensorineural hearing loss 30.0 MTHFR F5 F2
13 beta-thalassemia major 30.0 MTHFR F5 F2
14 vitamin k deficiency bleeding 30.0 SERPINC1 PROS1 F3 F2
15 venous insufficiency 30.0 MTHFR F5 F2
16 lateral sinus thrombosis 30.0 SERPINC1 MTHFR F2
17 heparin-induced thrombocytopenia 30.0 SERPINC1 F3 F10
18 mastoiditis 30.0 SERPINC1 MTHFR F2
19 intracranial embolism 29.9 SERPINC1 F3 F2
20 ischemic colitis 29.9 SERPINC1 F5 F2 APOH
21 retinal vein occlusion 29.9 SERPINC1 MTHFR F5 F3 F2 APOH
22 severe pre-eclampsia 29.9 SERPINC1 F5 APOH
23 central retinal vein occlusion 29.8 SERPINC1 MTHFR F5 F3 F2 APOH
24 retinal artery occlusion 29.8 SERPINC1 MTHFR F5 F2 APOH
25 portal vein thrombosis 29.8 SERPINC1 PROC MTHFR F5 F2 APOH
26 eclampsia 29.8 THBD SERPINC1 MTHFR F2
27 purpura 29.8 THBD SERPINC1 PROS1 PROC F3 F2
28 branch retinal artery occlusion 29.7 SERPINC1 MTHFR F3 F2 APOH
29 beta-thalassemia 29.7 SERPINC1 MTHFR F5 F2
30 protein c deficiency 29.7 THBD SERPINC1 PROC MTHFR F5 F2
31 sneddon syndrome 29.7 SERPINC1 F5 F2 APOH
32 budd-chiari syndrome 29.7 SERPINC1 MTHFR F5 F3 F2 APOH
33 livedoid vasculitis 29.7 SERPINC1 MTHFR F2 APOH
34 splenic infarction 29.6 SERPINC1 F3 F2 APOH
35 inflammatory bowel disease 29.6 SERPINC1 MTHFR F5 F3 F2
36 homocystinuria 29.5 THBD SERPINC1 MTHFR F5
37 leech infestation 29.5 SERPINC1 F3 F10
38 purpura fulminans 29.5 THBD SERPINC1 PROS1 PROC F5 F3
39 homocysteinemia 29.5 THBD SERPINC1 MTHFR F5 F2 APOH
40 acute myocardial infarction 29.4 THBD SERPINC1 FGA F3
41 pulmonary hypertension 29.4 THBD SERPINC1 F3 F2
42 thrombophlebitis 29.4 SERPINC1 PROS1 PROC MTHFR F5 F3
43 thrombotic thrombocytopenic purpura 29.4 THBD SERPINC1 F3 APOH
44 intracranial hypertension 29.4 SERPINC1 MTHFR F5 F3 F2 APOH
45 varicose veins 29.4 THBD SHBG SERPINC1 MTHFR F5 F2
46 hemolytic anemia 29.4 THBD F3 F2 APOH
47 cerebrovascular disease 29.3 THBD MTHFR FGA F5 F2 APOH
48 arteriosclerosis 29.3 THBD SHBG SERPINC1 F3
49 catastrophic antiphospholipid syndrome 29.3 PROC MTHFR F5 F3 APOH
50 cerebral sinovenous thrombosis 29.2 PROS1 MTHFR F5 F3 F2 APOH

Graphical network of the top 20 diseases related to Protein S Deficiency:



Diseases related to Protein S Deficiency

Symptoms & Phenotypes for Protein S Deficiency

MGI Mouse Phenotypes related to Protein S Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 F10 F2 F3 F5 FGA PROC
2 homeostasis/metabolism MP:0005376 10.06 APOH F10 F2 F3 F5 FGA
3 embryo MP:0005380 9.91 F2 F3 F5 FGA PROS1 SERPINC1
4 integument MP:0010771 9.8 F2 F3 F5 FGA MTHFR PROS1
5 liver/biliary system MP:0005370 9.7 F5 FGA MTHFR PROC PROS1 SERPINC1
6 mortality/aging MP:0010768 9.7 APOH F10 F2 F3 F5 FGA
7 nervous system MP:0003631 9.28 F2 F3 F5 FGA MTHFR PROC

Drugs & Therapeutics for Protein S Deficiency

Search Clinical Trials , NIH Clinical Center for Protein S Deficiency

Cochrane evidence based reviews: protein s deficiency

Genetic Tests for Protein S Deficiency

Genetic tests related to Protein S Deficiency:

# Genetic test Affiliating Genes
1 Protein S Deficiency Disease 29

Anatomical Context for Protein S Deficiency

MalaCards organs/tissues related to Protein S Deficiency:

40
Skin, Endothelial, Heart, Kidney, Liver, Brain, Small Intestine

Publications for Protein S Deficiency

Articles related to Protein S Deficiency:

(show top 50) (show all 1293)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
3
Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency. 61 54
19826897 2009
4
Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. 54 61
19466456 2009
5
Prevalence of thrombophilias in patients presenting for bariatric surgery. 54 61
19579050 2009
6
Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA). 61 54
19168201 2009
7
Deficiency of the natural anticoagulant proteins in women with pregnancy related venous thromboembolism. 61 54
19514602 2009
8
High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. 54 61
19132194 2009
9
Etiology of hypercoagulable state in women with recurrent fetal loss without other causes of miscarriage from Southern Italy: new clinical target for antithrombotic therapy. 54 61
19707467 2008
10
Confirmation of inherited protein S deficiency by PROS1 mutational screening: Identification of three novel PROS1 mutations and haplotype analysis of p.Q279X recurrence. 61 54
18841302 2008
11
Thrombophilic dimension of recurrent fetal loss in Indian patients. 54 61
18685442 2008
12
Venous thromboembolism in live kidney donors--a prospective study. 61 54
18791446 2008
13
Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification. 61 54
18489710 2008
14
Severe protein S deficiency resulting from two novel mutations in PROS1 presenting with a relatively mild clinical phenotype. 61 54
18485091 2008
15
Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations. 61 54
18433462 2008
16
Arteriovenous thrombosis in chronic renal failure patients receiving renal replacement therapy. 61 54
18760065 2008
17
PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations. 61 54
18435454 2008
18
FV Leiden mutation and risk of recurrent venous thromboembolism in Serbian population. 61 54
17549437 2008
19
[Rare thrombophilic states]. 61 54
18394759 2008
20
[Venous thromboembolism and liver cirrhosis]. 61 54
18662076 2008
21
Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. 61 54
18322254 2008
22
Evidence-based indications for thrombophilia screening. 61 54
18512539 2008
23
Protein S deficiency, epileptic seizures, sagittal sinus thrombosis and hemorrhagic infarction after ingestion of dimenhydrinate. 54 61
18382986 2008
24
Anticoagulant therapy after retinal vein occlusion in patients with protein S deficiency (Protein S deficiency with homozygous factor V Leiden mutation in central retinal vein occlusion. Vol. 42[4]). 61 54
18059510 2007
25
Prothrombotic risk factors in children with hemiplegic cerebral palsy. 54 61
17875083 2007
26
A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency. 61 54
17938802 2007
27
Patent foramen ovale and prothrombotic markers in young stroke patients. 54 61
17762528 2007
28
An Sp1 binding site mutation of the PROS1 promoter in a patient with protein S deficiency. 61 54
17596203 2007
29
Arterial thrombosis and the role of thrombophilia. 54 61
17768691 2007
30
The prevalence of thrombophilia and venous thromboembolism in total knee arthroplasty. 54 61
17710975 2007
31
Mechanisms of ischemic stroke in HIV-infected patients. 54 61
17438215 2007
32
Utility of the clinical practice of administering thrombophilic screening and antithrombotic prophylaxis with low-molecular-weight heparin to healthy donors treated with G-CSF for mobilization of peripheral blood stem cells. 61 54
17557562 2007
33
Relationship between thrombophilic disorders and type of severe early-onset hypertensive disorder of pregnancy. 54 61
18066962 2007
34
One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis. 61 54
16868938 2006
35
The relationship between pregnancy induced hypertension and congenital thrombophilia. 54 61
16883445 2006
36
Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency. 61 54
16885060 2006
37
Utility of thrombin-generation assay in the screening of factor V G1691A (Leiden) and prothrombin G20210A mutations and protein S deficiency. 61 54
16469858 2006
38
Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. 54 61
16363235 2005
39
Thrombophilia testing in patients with venous thrombosis. 54 61
16055356 2005
40
The relationship of the factor V Leiden mutation and pregnancy outcomes for mother and fetus. 61 54
16135581 2005
41
[Venous thromboembolic disease: which coagulation screening, for whom, when?]. 61 54
16240880 2005
42
Ischemic stroke subtypes and thrombophilia in young and elderly Brazilian stroke patients admitted to a rehabilitation hospital. 54 61
16109904 2005
43
Purpura fulminans as a sequel to erythema nodosum in a child with homozygous Leiden mutation and acquired protein S deficiency. 54 61
16188867 2005
44
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. 54 61
15978097 2005
45
Thrombophilia in children with cystic fibrosis. 61 54
15678507 2005
46
Risk factors for thrombophilia in extrahepatic portal vein obstruction. 61 54
15726653 2005
47
[Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium]. 61 54
15790048 2005
48
Maternal and paternal thrombophilia: risk factors for perinatal mortality. 61 54
15713144 2005
49
Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT). 54 61
15748234 2005
50
Excellent outcome in infants and small children with thrombophilias undergoing kidney transplantation. 61 54
15667609 2005

Variations for Protein S Deficiency

ClinVar genetic disease variations for Protein S Deficiency:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROS1 NM_000313.3(PROS1):c.1908del (p.Phe635_Tyr636insTer) Deletion Pathogenic 627024 rs1576170618 GRCh37: 3:93593212-93593212
GRCh38: 3:93874368-93874368
2 PROS1 NM_000313.3(PROS1):c.1916G>A (p.Cys639Tyr) SNV Pathogenic 627025 rs1576170616 GRCh37: 3:93593204-93593204
GRCh38: 3:93874360-93874360
3 PROS1 NM_000313.3(PROS1):c.1996T>C (p.Cys666Arg) SNV Pathogenic 627030 rs1302089144 GRCh37: 3:93593124-93593124
GRCh38: 3:93874280-93874280
4 PROS1 NM_000313.3(PROS1):c.785del (p.Gly262fs) Deletion Pathogenic 627385 rs1576182838 GRCh37: 3:93617356-93617356
GRCh38: 3:93898512-93898512
5 PROS1 NM_000313.3(PROS1):c.913C>T (p.Gln305Ter) SNV Likely pathogenic 627405 rs1395378093 GRCh37: 3:93615472-93615472
GRCh38: 3:93896628-93896628
6 PROS1 Deletion Likely pathogenic 627511 GRCh37: 3:93591831-93692960
GRCh38:
7 overlap with 5 genes Deletion Likely pathogenic 813267 GRCh37: 3:93516594-96012342
GRCh38:
8 PROS1 NM_000313.3(PROS1):c.970T>C (p.Ser324Pro) SNV Likely pathogenic 627164 rs1576180280 GRCh37: 3:93611962-93611962
GRCh38: 3:93893118-93893118
9 PROS1 NM_000313.3(PROS1):c.1680T>A (p.Tyr560Ter) SNV Likely pathogenic 627172 rs199469503 GRCh37: 3:93596000-93596000
GRCh38: 3:93877156-93877156
10 PROS1 NM_000313.3(PROS1):c.1126G>A (p.Asp376Asn) SNV Likely pathogenic 627208 rs1437372036 GRCh37: 3:93611806-93611806
GRCh38: 3:93892962-93892962
11 PROS1 NM_000313.3(PROS1):c.1155+5G>A SNV Likely pathogenic 627212 rs199469494 GRCh37: 3:93611772-93611772
GRCh38: 3:93892928-93892928
12 PROS1 NM_000313.3(PROS1):c.1405G>T (p.Glu469Ter) SNV Likely pathogenic 627232 rs267599946 GRCh37: 3:93603659-93603659
GRCh38: 3:93884815-93884815
13 PROS1 NM_000313.3(PROS1):c.233C>T (p.Thr78Met) SNV Likely pathogenic 215991 rs6122 GRCh37: 3:93646095-93646095
GRCh38: 3:93927251-93927251
14 PROS1 NM_000313.3(PROS1):c.284G>A (p.Gly95Glu) SNV Likely pathogenic 161354 rs144526169 GRCh37: 3:93629525-93629525
GRCh38: 3:93910681-93910681
15 PROS1 NM_000313.3(PROS1):c.49dup (p.Leu17fs) Duplication Likely pathogenic 627080 rs1575904540 GRCh37: 3:93692544-93692545
GRCh38: 3:93973700-93973701
16 PROS1 NM_000313.3(PROS1):c.1351C>T (p.Arg451Ter) SNV Likely pathogenic 503726 rs5017717 GRCh37: 3:93603713-93603713
GRCh38: 3:93884869-93884869
17 PROS1 NM_000313.3(PROS1):c.-168C>T SNV Likely pathogenic 626921 rs199469484 GRCh37: 3:93692761-93692761
GRCh38: 3:93973917-93973917
18 PROS1 NM_000313.3(PROS1):c.1284del (p.Gly429fs) Deletion Likely pathogenic 626924 rs1576176794 GRCh37: 3:93605219-93605219
GRCh38: 3:93886375-93886375
19 PROS1 NM_000313.3(PROS1):c.353C>T (p.Pro118Leu) SNV Likely pathogenic 626959 rs761574063 GRCh37: 3:93624981-93624981
GRCh38: 3:93906137-93906137
20 PROS1 NM_000313.3(PROS1):c.1079A>G (p.Glu360Gly) SNV Likely pathogenic 626965 rs1576180176 GRCh37: 3:93611853-93611853
GRCh38: 3:93893009-93893009
21 PROS1 NM_000313.3(PROS1):c.1514del (p.Gly505fs) Deletion Likely pathogenic 627006 rs1576173175 GRCh37: 3:93598137-93598137
GRCh38: 3:93879293-93879293
22 PROS1 NM_000313.3(PROS1):c.1543C>T (p.Arg515Cys) SNV Likely pathogenic 627008 rs199469500 GRCh37: 3:93598108-93598108
GRCh38: 3:93879264-93879264
23 PROS1 NM_000313.3(PROS1):c.1553C>T (p.Thr518Met) SNV Uncertain significance 627010 rs373336653 GRCh37: 3:93598098-93598098
GRCh38: 3:93879254-93879254
24 PROS1 NM_000313.3(PROS1):c.1681C>G (p.Arg561Gly) SNV Uncertain significance 13323 rs121918476 GRCh37: 3:93595999-93595999
GRCh38: 3:93877155-93877155
25 PROS1 NM_000313.3(PROS1):c.119G>T (p.Arg40Leu) SNV Uncertain significance 346893 rs7614835 GRCh37: 3:93646209-93646209
GRCh38: 3:93927365-93927365
26 PROS1 NM_000313.3(PROS1):c.137T>C (p.Leu46Pro) SNV Uncertain significance 626998 rs779469907 GRCh37: 3:93646191-93646191
GRCh38: 3:93927347-93927347
27 PROS1 NM_000313.3(PROS1):c.1973A>G (p.His658Arg) SNV Uncertain significance 627026 rs1576170541 GRCh37: 3:93593147-93593147
GRCh38: 3:93874303-93874303
28 PROS1 NM_000313.3(PROS1):c.511T>G (p.Cys171Gly) SNV Uncertain significance 627086 rs1576186985 GRCh37: 3:93624718-93624718
GRCh38: 3:93905874-93905874
29 PROS1 NM_000313.3(PROS1):c.550del (p.Cys184fs) Deletion Uncertain significance 627089 rs1576186962 GRCh37: 3:93624679-93624679
GRCh38: 3:93905835-93905835
30 PROS1 NM_000313.3(PROS1):c.76+7A>G SNV Uncertain significance 215729 rs201928951 GRCh37: 3:93692511-93692511
GRCh38: 3:93973667-93973667
31 PROS1 NM_000313.3(PROS1):c.1451A>G (p.Tyr484Cys) SNV Uncertain significance 627241 rs1576175763 GRCh37: 3:93603613-93603613
GRCh38: 3:93884769-93884769
32 PROS1 NM_000313.3(PROS1):c.1454A>C (p.Tyr485Ser) SNV Uncertain significance 576236 rs1323663956 GRCh37: 3:93603610-93603610
GRCh38: 3:93884766-93884766
33 PROS1 NM_000313.3(PROS1):c.698G>A (p.Arg233Lys) SNV Uncertain significance 161346 rs41267007 GRCh37: 3:93619677-93619677
GRCh38: 3:93900833-93900833

Expression for Protein S Deficiency

Search GEO for disease gene expression data for Protein S Deficiency.

Pathways for Protein S Deficiency

Pathways related to Protein S Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 THBD SERPINC1 PROS1 PROC FGA F5
2
Show member pathways
12.54 THBD SERPINC1 PROS1 PROC FGA F5
3
Show member pathways
11.96 THBD PROS1 PROC F2
4
Show member pathways
11.81 THBD SERPINC1 PROS1 PROC FGA F5
5
Show member pathways
11.7 PROS1 PROC F2 F10
6 11.48 THBD SERPINC1 PROS1 PROC FGA F5
7 10.8 PROS1 PROC F2 F10

GO Terms for Protein S Deficiency

Cellular components related to Protein S Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.77 SERPINC1 FGA F3 F2 APOH
2 extracellular region GO:0005576 9.7 SHBG SERPINC1 PROS1 PROC FGA F5
3 blood microparticle GO:0072562 9.65 SERPINC1 PROS1 FGA F2 C4BPA
4 endoplasmic reticulum lumen GO:0005788 9.63 SERPINC1 PROC FGA F5 F2 F10
5 Golgi lumen GO:0005796 9.62 PROS1 PROC F2 F10
6 platelet alpha granule lumen GO:0031093 9.61 PROS1 FGA F5
7 platelet alpha granule GO:0031091 9.46 FGA F5
8 intrinsic component of external side of plasma membrane GO:0031233 9.4 F3 F10
9 extracellular space GO:0005615 9.36 THBD SERPINC1 PROS1 PROC FGA F5

Biological processes related to Protein S Deficiency according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.83 SERPINC1 PROC FGA F5
2 cellular protein metabolic process GO:0044267 9.8 SERPINC1 PROC FGA F5 F2
3 platelet degranulation GO:0002576 9.76 PROS1 FGA F5 APOH
4 leukocyte migration GO:0050900 9.74 THBD PROS1 F2
5 ER to Golgi vesicle-mediated transport GO:0006888 9.72 PROS1 PROC F5 F2 F10
6 regulation of complement activation GO:0030449 9.71 PROS1 F2 C4BPA
7 fibrinolysis GO:0042730 9.61 PROS1 FGA F2
8 hemostasis GO:0007599 9.61 THBD SERPINC1 PROS1 PROC FGA F5
9 blood coagulation, intrinsic pathway GO:0007597 9.56 F2 APOH
10 positive regulation of blood coagulation GO:0030194 9.55 F2 APOH
11 regulation of blood coagulation GO:0030193 9.54 SERPINC1 F2 APOH
12 plasminogen activation GO:0031639 9.51 FGA APOH
13 negative regulation of platelet activation GO:0010544 9.49 THBD F2
14 blood coagulation, extrinsic pathway GO:0007598 9.48 F3 F10
15 negative regulation of blood coagulation GO:0030195 9.46 THBD PROS1 PROC APOH
16 negative regulation of fibrinolysis GO:0051918 9.43 THBD F2 APOH
17 blood coagulation GO:0007596 9.28 THBD SERPINC1 PROS1 PROC FGA F5

Molecular functions related to Protein S Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.5 SERPINC1 F2 APOH
2 serine-type peptidase activity GO:0008236 9.43 PROC F2 F10
3 calcium ion binding GO:0005509 9.35 THBD PROS1 PROC F2 F10
4 phospholipid binding GO:0005543 9.33 F3 F10 APOH
5 serine-type endopeptidase activity GO:0004252 8.92 PROC F3 F2 F10

Sources for Protein S Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....