Summaries for Protein C Deficiency

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17Genetics Home Reference, 44Wikipedia, 22MalaCards
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Genetics Home Reference: Protein C deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.17

MalaCards: Protein C Deficiency, also known as hereditary thrombophilia due to protein c deficiency, is related to thrombosis and surfactant protein c deficiency. An important gene associated with Protein C Deficiency is PROC (protein C (inactivator of coagulation factors Va and VIIIa)), and among its related pathways are Cell surface interactions at the vascular wall and Common Pathway. The compounds ximelagatran and hirugen have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lung and skin, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Wikipedia: Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first...44 more...

Aliases & Descriptions for Protein C Deficiency

Sources:
6Disease Ontology, 44Wikipedia, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 24MeSH
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Aliases & Descriptions:

protein c deficiency 6 44 16 17 8 32 43
hereditary thrombophilia due to protein c deficiency 17
thrombophilia, hereditary 43

External Ids:

SNOMED-CT40 76407009

Related Diseases for Protein C Deficiency

Sources:
13GeneCards, 14GeneDecks
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Disease types for protein s deficiency family:

protein c deficiency protein r deficiency

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

(show top 50)    (show all 361)
idRelated DiseaseScoreTop Affiliating Genes
1thrombosis33.2SERPINA10, MTHFR, F8, F5, F2
2surfactant protein c deficiency32.4SFTPC, TLR3
3purpura fulminans29.4SERPINC1, MTHFR, APOH, F5, F3, F2
4protein s deficiency28.9SERPINC1, F9, F5
5interstitial lung disease28.4SFTPC, SERPINC1, F5, PROC, CSF3
6arterial occlusive disease28.3MTHFR, F3, CBS, THBD
7cerebrovascular accident27.2SERPINC1, SERPINE1, MTHFR, APOH, F7, F5
8venous thrombosis26.7SERPINC1, SERPINF2, SERPINA10, SERPINE1, MTHFR, JAK2
9thrombophlebitis26.7SERPINC1, SERPINF2, MTHFR, APOH, F8, F5
10septic shock26.7SERPINC1, SERPINE1, CFP, FGA, F5, F3
11meningitis26.7CFP, APOH, F5, F13A1, PLAU, CSF3
12hyperhomocysteinemia26.5SERPINC1, SERPINE1, MTHFR, APOH, F9, F8
13purpura26.4SERPINC1, SERPINF2, SERPINE1, MTHFR, APOH, F9
14antithrombin iii deficiency26.4SERPINC1, SERPIND1, MTHFR, JAK2, FGA, APOH
15thromboembolism25.8SERPINC1, SERPINF2, SERPIND1, SERPINE1, MTHFR, FGA
16sepsis24.4SERPINC1, SERPINF2, SERPINE1, FGA, F9, F7
17cerebral infarction23.7SERPINC1, SERPIND1, SERPINE1, MTHFR, FGA, APOH
18immunodeficiency23.5SFTPC, SERPINC1, SERPINE1, CFP, APOH, F9
19deep vein thrombosis22.6SERPINC1, SERPINE1, MTHFR, FGA, APOH, F9
20thrombophilia21.7SERPINC1, SERPINF2, SERPIND1, SERPINA10, SERPINE1, MTHFR
21leukemia19.3SERPINC1, SERPINF2, SERPINE1, MTHFR, CFP, JAK2
22myocardial infarction19.2SERPINC1, SERPINF2, SERPIND1, SERPINA10, SERPINA4, SERPINE1
23cerebritis19.2SERPINC1, SERPINF2, SERPIND1, SERPINE1, MTHFR, JAK2
24mondor disease13.7APOH, F5
25antiphospholipid syndrome13.7APOH, F2
26placental infarction13.7SERPINC1, APOH, F5
27stroke, ischemic13.7F5, F2
28legg-calve-perthes disease13.7SERPINC1, F5
29postphlebitic syndrome13.7SERPINC1, F5
30placental abruption13.6SERPINC1, MTHFR, F5
31vitamin k-dependent clotting factors13.6F9, F5, F2
32blood protein disease13.6MTHFR, F5, F2
33porencephaly13.6MTHFR, F5, F2
34hepatic vein thrombosis13.6SERPINC1, SERPINE1
35homocysteine plasma level13.6SERPINC1, MTHFR, F5
36neonatal stroke13.6SERPINE1, MTHFR, F5
37mthfr deficiency13.6MTHFR, CBS
38acquired angioedema13.6SERPINC1, F5
39retinal vascular occlusion13.6SERPINC1, MTHFR, APOH, F5
40gastroschisis13.6MTHFR, F5, F2
41infective endocarditis13.5SERPINC1, APOH, F2
42amaurosis fugax13.5SERPINE1, MTHFR, APOH, F5
43critical limb ischemia13.5APOH, F5, THBD
44hyperprothrombinemia13.5SERPINC1, F2
45homocysteinemia13.5MTHFR, F5, CBS
46intracranial hypertension13.5SERPINC1, SERPINE1, APOH, F5
47collagen disease13.5APOH, COL1A1, THBD
48ischemic optic neuropathy13.5MTHFR, APOH, F5, F2
49severe pre-eclampsia13.5SERPINC1, SERPINE1, APOH, F5
50transient cerebral ischemia13.5MTHFR, FGA, APOH

Graphical network of the top 20 diseases related to protein c deficiency:



Graphical network of diseases related to protein c deficiency

Clinical Features for Protein C Deficiency

Drugs & Therapeutics for Protein C Deficiency

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for protein c deficiency

Search CenterWatch for protein c deficiency

Genetic Tests for Protein C Deficiency

Sources:
16GeneTests
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Genetic tests related to protein c deficiency:

id Genetic test Affiliating Genes
1 Protein C Deficiency
clinical/research
PROC

Anatomical Context for Protein C Deficiency

Sources:
22MalaCards
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MalaCards organs/tissues related to protein c deficiency:

22
Bone marrow, Lung, Skin

Phenotypes for genes affiliated with Protein C Deficiency

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25MGI
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Publications for genes affiliated with Protein C Deficiency

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35PubMed
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Articles related to protein c deficiency:

(show top 50)    (show all 103)
idTitleAuthorsYearAffiliating Genes
1Protein C deficiency in Thai children with thromboemb olism: A report of clinical presentations and mutation analysis. (19922983)Sirachainan N.... Parapakpenjune S.2010PROC
2Hereditary protein C deficiency caused by the Ala267T hr mutation in the protein C gene is associated with symptomatic and asymptomat ic venous thrombosis. (19535131)Tjeldhorn L.... Skretting G.2010PROC
3Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations. (19373522)Takagi A.... Kojima T.2009PROC
4Fulminant sepsis/meningitis due to Haemophilus influe nzae in a protein C-deficient heterozygote treated with activated protein C the rapy. (18751723)Ishimura M.... Hara T.2009F5
5Severe purpura fulminans due to coexistence of homozy gous protein C deficiency and homozygous methylenetetrahydrofolate reductase mu tation. (19954370)Demirel N.... Yarali N.2009MTHFR
6Activated protein C concentrate treatment for skin necrosis under warfarin treatment in severe genetic protein C deficiency combined with prothrombin mutation and factor V Leiden. (19190829)Rosenzweig N.... Kenet G.2009F2, PROC, F5
7A model for the formation, growth, and lysis of clots in quiescent plasma. A comparison between the effects of antithrombin III deficiency and protein C deficiency. (18539301)Anand M.... Rajagopal K.R.2008SERPINC1
8Protein C deficiency in a family with thromboembolism and identified gene mutations. (17603240)Hoshi S.... Yamaguchi T.2007PROC
9Molecular mechanisms of protein C deficiency caused by C64W and F139V mutations (17649706)Zhou R.F.... Wang H.2007PROC
10Severe clinical presentation of protein C deficiency in a type I/II compound heterozygote newborn. (16113807)Fernandez-Burriel M.2005PROC
11Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C-deficient family. (14995985)Vossen C.Y.... Bovill E.G.2004F9, FGA, SERPINA10
12Bacteroides fragilis bacteremia associated with portal vein and superior mesentery vein thrombosis secondary to antithrombin III and protein C deficiency: a case report. (12542252)Ni Y.H.... Chang F.Y.2002SERPINC1
13Perioperative management of a patient with purpura f ulminans syndrome due to protein C deficiency (11744581)Kumagai K.... Shimada Y.2001F5
14Molecular genetic analysis of severe protein C deficiency. (10942114)Millar D.S.... Cooper D.N.2000PROC
15Jejunal stricture complicating acute mesenteric venous thrombosis secondary to protein C deficiency and factor V Leiden gene mutation. (10812821)Narawane N.M.... Abraham P.2000F5
16Single founder mutation (W380G) in type II protein C deficiency in Finland. (11019966)Levo A.... Partanen J.2000PROC
17Mesenteric venous thrombosis associated with protein C deficiency. (10433018)Mitani M.... Fujii Y.1999SERPINC1
18Type-I protein-C deficiency caused by disruption of a hepatocyte nuclear factor (HNF)-6/HNF-1 binding site in the human protein-C gene promoter. (10578522)Spek A.... Reitsma P.1999ONECUT1
19Can low level of von Willebrand factor decrease the risk of thrombosis in families with antithrombin or protein C deficiency? (10365764)Jelenska M.M.... Zajac S.1999SERPINC1
20Screening methods in genetic diagnosis of hereditary protein C deficiency (9990817)DA!vid M.... Meyer M.1999SERPINF2
21Analysis of 45 episodes of arterial occlusive disease in Japanese patients with congenital protein C deficiency. (10230891)Sakata T.... Miyata T.1999SERPINC1
22Three novel PROC gene lesions causing protein C deficiency. (9788727)Hallam P.J.... Cooper D.N.1998PROC
23Activated protein C concentrate: a new tool for the t reatment of acute thromboembolism in patients with congenital protein C deficie ncy. (9241766)Sugimoto M.... Yoshioka A.1997F5
24Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene. (8822578)Soria J.M.... Sala N.1996PROC
25Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients. (8807339)Soria J.M.... Sala N.1996PROC
26Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G --> A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency. (8845458)Soria J.M.... Sala N.1996PROC
27Six different point mutations in seven Danish families with symptomatic protein C deficiency. (7792728)Lind B.... Thorsen S.1995PROC
28Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study) (7742536)Koster T.... Vandenbroucke J.P.1995SERPINC1
29Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency . (7562967)Hallam P.J.... Cooper D.N.1995F5
30Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene. (8607097)Soria J.M.... Sala N.1995PROC
31Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites. (7592627)Spek C.A.... Reitsma P.H.1995FOXM1
32Superficial migratory thrombophlebitis in a patient w ith reversible protein C deficiency and anticardiolipin antibodies. (7864700)Fiehn C.... Hunstein W.1994APOH
33Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease. (8047373)Glueck C.J.... Tracy T.1994SERPINC1, SERPINF2
34Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket. (8398832)Marchetti G.... Bernardi F.1993PROC
35Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency. (8292730)Tsay W.... Griffin J.H.1993PROC
36Protein C deficiency: a database of mutations. (8446940)Reitsma P.H.... Cooper D.N.1993PROC
37A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis. (8499568)Millar D.S.... Cooper D.N.1993PROC
38Thrombotic complications of BMT: association with protein C deficiency. (8431711)Gordon B.G.... Reed E.C.1993PROC
39The clinical characteristics, complications and therapeutic problems of protein C deficiency (8211782)Barkagan Z.S.... Karpenko A.A.1993SERPINC1
40Successful treatment of deep vein thrombosis in homoz ygous protein C deficiency with activated protein C. (8213784)Wada H.... Suzuki K.1993F5
41Increased thrombin generation in a child with a combined factor IX and protein C deficiency. (8427961)Negrier C.... Dechavanne M.1993F9
42Familial cerebrovascular accidents due to concomitant hyperhomocysteinemia and protein C deficiency type 1. (8378967)Franken D.G.... Novakova I.R.1993THBD
43Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C. (1593215)Yamamoto K.... Saito H.1992PROC
44Hereditary protein C-deficiency: laboratory values in transmitters and guidelines for the diagnostic procedure. Report on a study of the SSC Subcommittee on Protein C and Protein S. Protein C Transmitter Study G roup. (1448781)Pabinger I.... Bertina R.M.1992XAGE2
45Impaired secretion of the elongated mutant of protein C (protein C-Nagoya). Molecular and cellular basis for hereditary protein C deficiency. (1469096)Yamamoto K.... Saito H.1992PROC
46Genetic analysis of congenital protein C deficiency (1433913)Yamamoto S.... Matsushita T.1992PROC
47Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation. (1611081)Sugahara Y.... Aoki N.1992PROC
48The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects. (1868249)Reitsma P.H.... Bertina R.M.1991PROC
49Familial variant of antithrombin III (AT III Bligny, 47Arg to His) associated with protein C deficiency. (2363123)Wolf M.... Larrieu M.J.1990SERPINC1
50Protein C deficiency and anticardiolipin antibodies i n a family with premature stroke. (2293763)Haire W.D.... Newland J.R.1990APOH

Expression for genes affiliated with Protein C Deficiency

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Protein C Deficiency

Pathways for genes affiliated with Protein C Deficiency

Sources:
38Reactome, 34PharmGKB, 10EMD Millipore, 41Thomson Reuters, 36QIAGEN, 37R&D Systems, 20KEGG
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Compounds for genes affiliated with Protein C Deficiency

Sources:
32Novoseek , 9DrugBank, 34PharmGKB, 18HMDB, 42Tocris Bioscience
See all sources

Compounds related to protein c deficiency according to GeneDecks:

(show top 50)    (show all 201)
idCompoundScoreTop Affiliating Genes
1ximelagatran32 9 9 12.2F2, SERPINC1
2hirugen32 10.0THBD, F2, F5, FGA, SERPINC1
3ancrod32 9.9F2, THBD, SERPINC1, F5, FGA, SERPINE1
4cyclophosphamide32 34 9 9 12.7F8, APOH, F9
5fibrinopeptide a32 9.7PF4, SERPINF2, SERPINC1, FGA, THBD, F2
6ristocetin32 9.6F8, SERPINC1, F2, F9, SERPINF2
7bivalirudin32 9 9 11.5F3, THBD, F2, SERPINC1, F5, FGA
8argatroban32 9 9 11.5F3, F2, FGA, SERPINC1, F5, THBD
9danaparoid32 9.5F5, F3, F2, PF4, SERPINC1
1011-dehydrothromboxane b232 9.5THBD, PF4, CBS, F2, APOH, FGA
11fondaparinux32 9.4SERPINC1, F9, F5, F3, F2, PF4
12heparinoids32 9.4THBD, F2, F3, F5, SERPINC1, F13A1
13Drotrecogin alfa9 9 10.3THBD, PF4, F2, F5, F8, SERPINE1
14benzamidine32 9 9 11.3F9, SERPINC1, THBD, PLG, PLAU, F5
15cysteine32 9.2THBD, PF4, HRG, COL1A1, PLAU, MTHFR
16lysine32 9.1SFTPC, SERPINF2, PLAU, PF4, F13A1
17gamma-carboxyglutamic acid32 9.0F3, F2, PF4, THBD, PROC, PROCR
18pge132 9.0PF4, F2, PLAU, THBD, FGA, APOH
19cacl232 9.0F3, F9, F5, F8, FGA, THBD
20kaolin32 9.0APOH, F9, F8, F5, F3, F2
21ptca32 8.8SERPINF2, FGA, APOH, F3, PF4, THBD
22protamine32 8.7SERPINC1, SERPINE1, ADAMTSL1, PF4, F2, F3
23hydroxyethyl starch32 8.7CSF3, F2, F3, F8, SERPINC1
24txb232 8.6APOH, FGA, SERPINF2, F3, PF4, THBD
25dermatan sulfate32 8.6F5, F3, F2, HRG, PLAU, PF4
26hirudin32 8.6ADAMTSL1, PROCR, THBD, PF4, PLAU, F5
27homocysteine32 18 9.5APOH, SERPINE1, SERPINC1, F9, F8, THBD
28aprotinin32 9 9 10.4THBD, PF4, PLG, PLAU, F2, F5
29aspartate32 8.3F2, F7, ADAMTSL1, F5, THBD, F8
30tranexamic acid32 9 9 10.3SERPINC1, SERPINE1, F9, F8, F3, F2
31desmopressin32 42 9 9 11.2SERPINC1, SERPINF2, PLAU, THBD, F2, F3
32epsilon aminocaproic acid32 8.1SERPINC1, SERPINF2, SERPINE1, F9, F3, F2
33warfarin32 34 9 18 9 11.9F5, F7, F8, F9, APOH, FGA
34nacl32 7.7THBD, PF4, PLG, HRG, F5, F8
35dextran sulfate32 7.6PF4, ADAMTSL1, PLAU, SERPINC1, CFP, JAK2
36prostacyclin32 7.5SERPINE1, SERPINC1, F5, F8, APOH, FGA
37phospholipid32 7.3SERPINA10, F8, JAK2, SFTPC, F9, F5
38endotoxin32 7.2F3, TLR3, THBD, PROCR, CSF3, F5
39polysaccharide32 7.2THBD, PF4, PLAU, F3, F5, F8
40creatinine32 7.2APOH, FGA, F9, F7, F8, F5
41epinephrine32 9 18 9 10.1JAK2, PLAU, F2, F3, ADAMTSL1, F5
42cholesterol32 9 18 9 9.6SERPINF2, SERPINE1, SFTPC, FGA, ADAMTSL1, MTHFR
43kininogen32 6.3F13A1, HRG, PLAU, PLG, PF4, THBD
44alanine32 6.3THBD, PF4, COL1A1, PLAU, F2, F3
45estrogen32 6.2SERPINE1, PLAU, FOXM1, F13A1, F12, F2
46aspirin32 34 18 8.2SERPINE1, MTHFR, JAK2, FGA, APOH, F8
47heparin32 9 18 9 8.9ADAMTSL1, PROC, PLG, PLAU, HRG, F13A1
48vegf32 5.0COL1A1, PLG, PLAU, F13A1, F3, F5
49fibrinogen32 4.6ADAMTSL1, PROCR, PROC, THBD, PF4, PLG
50serine32 4.0F5, F7, F8, F9, FGA, JAK2

GO Terms for genes affiliated with Protein C Deficiency

Sources:
12Gene Ontology
See all sources

Cellular components related to protein c deficiency according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057969.8F9, F7, F2, PROC
2endoplasmic reticulum lumenGO:0057889.2PROC, COL1A1, F2, F7, F9
3extracellular matrixGO:0310129.2COL1A1, F3, APOH, CFP, SERPINE1
4platelet alpha granule lumenGO:0310938.0SERPINF2, SERPINE1, FGA, F8, F5, F13A1
5extracellular regionGO:0055765.5F2, F12, F13A1, HRG, PLAU, PLG
6extracellular spaceGO:0056155.3SFTPC, PF4, THBD, PROC, CSF3, COL1A1

Biological processes related to protein c deficiency according to GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of blood coagulationGO:03019510.2PROC, THBD, APOH, SERPINE1
2negative regulation of cell adhesion mediated by integrinGO:03362910.2SERPINE1, HRG
3negative regulation of plasminogen activationGO:01075710.2SERPINE1, SERPINF2
4peptidyl-glutamic acid carboxylationGO:01718710.0F9, F7, F2, PROC
5positive regulation of fibrinolysisGO:0519199.9PLG, F12
6leukocyte migrationGO:0509009.9F2, COL1A1, THBD, PROC
7positive regulation of platelet-derived growth factor receptor signaling pathwayGO:0106419.8F7, F3
8blood coagulation, extrinsic pathwayGO:0075989.8F9, F7, F3
9positive regulation of blood coagulationGO:0301949.7F12, F2, F7, APOH, SERPINE1
10negative regulation of fibrinolysisGO:0519189.5THBD, SERPINF2, SERPINE1, APOH, F2, HRG
11blood coagulation, intrinsic pathwayGO:0075979.5F12, F2, F8, F9, APOH
12positive regulation of tumor necrosis factor productionGO:0327609.4JAK2, PF4, TLR3
13acute-phase responseGO:0069539.4F2, F8, SERPINF2
14fibrinolysisGO:0427309.0PLG, PLAU, HRG, F12, F2, SERPINE1
15proteolysisGO:0065088.8PROC, PLG, PLAU, F12, F2, F7
16positive regulation of cell migrationGO:0303358.6COL1A1, ONECUT1, F3, F7, JAK2
17response to lipopolysaccharideGO:0324968.6SFTPC, JAK2, F3, THBD
18platelet degranulationGO:0025768.2PF4, PLG, HRG, F13A1, F5, F8
19platelet activationGO:0301687.8PF4, COL1A1, PLG, HRG, F13A1, F2
20blood coagulationGO:0075964.6PLG, COL1A1, PF4, THBD, PROC, PROCR

Molecular functions related to protein c deficiency according to GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1eukaryotic cell surface bindingGO:0434999.9SERPINF2, FGA, APOH
2heparin bindingGO:0082019.6PF4, HRG, APOH, SERPIND1, SERPINC1
3serine-type endopeptidase inhibitor activityGO:0048679.5HRG, SERPINE1, SERPINF2, SERPINC1
4protease bindingGO:0020209.5F3, SERPINE1, SERPINF2, SERPINC1
5cell surface bindingGO:0434989.4F3, HRG, PLG
6serine-type endopeptidase activityGO:0042528.8F9, PROC, PLG, PLAU, F12, F2
7protein bindingGO:0055155.1CBS, F12, HRG, PLAU, PLG, COL1A1

Sources for Protein C Deficiency

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS