THPH2
MCID: THR082
MIFTS: 54

Thrombophilia Due to Activated Protein C Resistance (THPH2) malady

Categories: Genetic diseases, Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Thrombophilia Due to Activated Protein C Resistance

Aliases & Descriptions for Thrombophilia Due to Activated Protein C Resistance:

Name: Thrombophilia Due to Activated Protein C Resistance 54 66 29 13 69
Thrombophilia Due to Factor V Leiden 54 66 29
Activated Protein C Resistance 66 42 69
Apc Resistance 66 52
Thrombophilia Due to Deficiency of Activated Protein C Cofactor 66
Proc Cofactor Deficiency 66
Thrombophilia V 66
Pccf Deficiency 66
Thph2 66

Characteristics:

HPO:

32
thrombophilia due to activated protein c resistance:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 54 188055
MeSH 42 D020016

Summaries for Thrombophilia Due to Activated Protein C Resistance

OMIM : 54 Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant... (188055) more...

MalaCards based summary : Thrombophilia Due to Activated Protein C Resistance, also known as thrombophilia due to factor v leiden, is related to budd-chiari syndrome and factor v leiden thrombophilia, and has symptoms including hypercoagulability, preeclampsia and prolonged partial thromboplastin time. An important gene associated with Thrombophilia Due to Activated Protein C Resistance is F5 (Coagulation Factor V), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Estradiol and Metformin have been mentioned in the context of this disorder. Related phenotypes are homeostasis/metabolism and cardiovascular system

UniProtKB/Swiss-Prot : 66 Thrombophilia due to activated protein C resistance: A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis.

Wikipedia : 71 Activated protein C resistance (APCR) is a hemostatic disorder characterized by a poor anticoagulant... more...

Related Diseases for Thrombophilia Due to Activated Protein C Resistance

Diseases in the Thrombophilia family:

Thrombophilia Due to Activated Protein C Resistance Thrombophilia, Familial, Due to Decreased Release of Plat
Thrombophilia Due to Thrombin Defect Thrombophilia Due to Thrombomodulin Defect
Prothrombin-Related Thrombophilia

Diseases related to Thrombophilia Due to Activated Protein C Resistance via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 180)
id Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 30.3 APOH F2 F3 F5 FGA MTHFR
2 factor v leiden thrombophilia 11.4
3 thrombophilia due to thrombin defect 10.9
4 med13l syndrome 10.4 APOH F5
5 multiple familial trichoepithelioma 10.3 F5 MTHFR
6 congenital insensitivity to pain with severe intellectual disability 10.3 F2 F5
7 achard thiers syndrome 10.3 APOH F5
8 burn scar 10.3 APOH F8
9 urogenital adysplasia 10.3 THBD VWF
10 myosclerosis, congenital 10.3 F5 MTHFR SERPINC1
11 lung cancer 10.3 APOH F5 MTHFR
12 scn8a-related epilepsy with encephalopathy 10.3 F2 MTHFR
13 may-hegglin anomaly 10.3 APOH F2 SERPINC1
14 vcl-related familial hypertrophic cardiomyopathy 10.3 F8 VWF
15 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 10.3 F8 VWF
16 photosensitive epilepsy 10.3 F2 F5 MTHFR
17 stt3a-cdg and stt3b-cdg 10.3 F5 SERPINC1 SERPINE1
18 hereditary alpha tryptasemia syndrome 10.3 F2 F3 SERPINC1
19 houlston ironton temple syndrome 10.3 F2 F5 MTHFR
20 absence of innominate vein 10.3 F5 MTHFR SERPINE1
21 dyskinetic cerebral palsy 10.3 F2 F3 F8
22 villous adenoma 10.3 F2 F5 MTHFR
23 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 10.3 F10 F3 SERPINC1
24 aminoaciduria 10.3 F5 MTHFR SERPINE1
25 hemolytic-uremic syndrome 10.3 F2 F3 SERPINC1
26 exophthalmic ophthalmoplegia 10.3 APOH F5 SERPINC1
27 sertoli cell tumor 10.3 F3 SERPINC1
28 alpha-2-plasmin inhibitor deficiency 10.2 F2 MTHFR SERPINC1
29 primary peritoneal carcinoma 10.2 F8 F9
30 neutropenia 10.2 MTHFR SERPINE1
31 granulomatous hepatitis 10.2 F2 F3 SERPINC1
32 periosteal chondrosarcoma 10.2 F2 SERPINC1 SERPINE1
33 prostatic hypertrophy 10.2 F2 F3 VWF
34 porphyria 10.2 F2 MTHFR
35 headache 10.2 F8 VWF
36 cleft lip 10.2 F5 MTHFR SERPINC1
37 invasive pneumococcal disease, recurrent isolated, 1 10.2 F10 F2 F5
38 craniopharyngioma 10.2 F3 SERPINE1 THBD
39 autoimmune disease of central nervous system 10.2 APOH F2 SERPINE1
40 pancreatic ductal carcinoma 10.2 F2 F3 F5 SERPINC1
41 vulvitis 10.2 F2 F3 SERPINE1
42 hendra virus infection 10.2 APOH F2 F3 F5
43 subclavian artery aneurysm 10.2 F10 F3 SERPINE1
44 childhood type dermatomyositis 10.2 F2 F5 MTHFR
45 microphthalmia, isolated, with coloboma 10 10.2 F10 F5 SERPINE1
46 sialadenitis 10.2 APOH THBD VWF
47 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.2 APOH F2 F5 MTHFR
48 vcl-related dilated cardiomyopathy 10.2 F8 VWF
49 pulpitis 10.2 F2 THBD VWF
50 stroke, ischemic 10.2 F2 F3 F5 F8

Graphical network of the top 20 diseases related to Thrombophilia Due to Activated Protein C Resistance:



Diseases related to Thrombophilia Due to Activated Protein C Resistance

Symptoms & Phenotypes for Thrombophilia Due to Activated Protein C Resistance

Symptoms by clinical synopsis from OMIM:

188055

Clinical features from OMIM:

188055

Human phenotypes related to Thrombophilia Due to Activated Protein C Resistance:

32
id Description HPO Frequency HPO Source Accession
1 hypercoagulability 32 HP:0100724
2 preeclampsia 32 HP:0100602
3 prolonged partial thromboplastin time 32 HP:0003645
4 deep venous thrombosis 32 HP:0002625
5 resistance to activated protein c 32 HP:0012175

MGI Mouse Phenotypes related to Thrombophilia Due to Activated Protein C Resistance:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 SERPINC1 SERPINE1 SERPINF2 THBD VWF APOH
2 cardiovascular system MP:0005385 10.23 SERPINC1 SERPINE1 THBD VWF F10 F2
3 hematopoietic system MP:0005397 10.21 F2 F3 F8 F9 FGA PF4
4 immune system MP:0005387 10.11 F2 F3 F8 F9 FGA PLAT
5 mortality/aging MP:0010768 10.03 APOH F10 F2 F3 F5 F8
6 integument MP:0010771 9.92 F2 F3 F5 FGA MTHFR PLG
7 liver/biliary system MP:0005370 9.8 F5 F9 FGA PLG SERPINC1 SERPINE1
8 nervous system MP:0003631 9.65 MTHFR PLAT PLG SERPINC1 THBD VWF
9 reproductive system MP:0005389 9.28 F10 F2 F8 FGA MTHFR PLAT

Drugs & Therapeutics for Thrombophilia Due to Activated Protein C Resistance

Drugs for Thrombophilia Due to Activated Protein C Resistance (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 261)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757 53477783
2
Metformin Approved Phase 4,Phase 2 657-24-9 14219 4091
3
Norethindrone Approved Phase 4 68-22-4 6230
4
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
5
Nitric Oxide Approved Phase 4 10102-43-9 145068
6
Pioglitazone Approved, Investigational Phase 4,Phase 2 111025-46-8 4829
7
Simvastatin Approved Phase 4 79902-63-9 54454
8
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
9
Ramipril Approved Phase 4,Phase 2 87333-19-5 5362129
10
Bisoprolol Approved Phase 4 66722-44-9 2405
11
Isosorbide Dinitrate Approved Phase 4 87-33-2 6883
12
Drospirenone Approved Phase 4,Phase 1,Phase 2 67392-87-4 68873
13
Levonorgestrel Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 797-63-7, 17489-40-6 13109
14
Norgestrel Approved Phase 4 6533-00-2 13109
15
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
16
Nandrolone decanoate Approved, Illicit Phase 4 360-70-3 9677
17
Nandrolone Approved, Experimental, Illicit Phase 4 434-22-0, 62-90-8 9904 229455
18 Dienogest Approved Phase 4 65928-58-7
19
Liraglutide Approved Phase 4 204656-20-2
20
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
21 Progestins Phase 4,Phase 2,Phase 1
22 insulin Phase 4,Phase 3,Phase 2
23 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1 979-32-8
24 Imatinib Mesylate Phase 4,Phase 3 123596
25 Analgesics Phase 4,Phase 1,Phase 2
26 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Phase 1
28 Norethindrone acetate Phase 4
29 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
30 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
31 Hormones Phase 4,Phase 3,Phase 2,Phase 1
32 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
34 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1
35 Hypoglycemic Agents Phase 4,Phase 2
36 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1
37 Estrogens Phase 4,Phase 3,Phase 2,Phase 1
38 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1
39 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2
40 calcium heparin Phase 4
41 isosorbide-5-mononitrate Phase 4
42 Rosuvastatin Calcium Phase 4 147098-20-2
43 diuretics Phase 4,Phase 1,Phase 2
44
protease inhibitors Phase 4,Phase 2,Phase 3
45 Adrenergic Agents Phase 4
46 Natriuretic Agents Phase 4,Phase 1,Phase 2
47 Adrenergic Antagonists Phase 4
48 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
49 Adrenergic beta-1 Receptor Antagonists Phase 4
50 Neurotransmitter Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 65)
id Name Status NCT ID Phase
1 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4
2 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
3 Investigate Impact of Yasmin vs Microgynon on Hemostasis Parameters in Healthy Women Completed NCT00651846 Phase 4
4 Antihypertensive Effect of Continuous Positive Airway Pressure in Resistant Hypertensive Patients With Sleep Apnea Completed NCT00929175 Phase 4
5 Effect of Pioglitazone on Insulin Resistance, Atherosclerosis Progression and Clinical Course of Coronary Heart Disease Completed NCT03011775 Phase 4
6 Effect of Statin Treatment on Insulin Sensitivity During Myocardial Infarction Completed NCT01205347 Phase 4
7 Synthetic vs Natural Estrogen in Combined Oral Contraception Recruiting NCT02352090 Phase 4
8 Sildenafil Activates Browning of White Adipose and Improves Insulin Sensitivity Recruiting NCT02524184 Phase 4
9 The Effect of Liraglutide on Dietary Lipid Induced Insulin Resistance in Humans Active, not recruiting NCT02403284 Phase 4
10 Rosiglitazone and Metformin: Outcomes Trial in Nondiabetic Patients With Stable Coronary Syndromes (Romance) Pilot Study Terminated NCT00343395 Phase 4
11 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4
12 Effects on Hemostasis, Lipids, Carbohydrate Metabolism, Adrenal & Thyroid Function of the Combined Oral Contraceptive NOMAC-E2 Compared to a COC Containing LNG-EE (292004)(COMPLETED)(P05764) Completed NCT00511355 Phase 3
13 Efficacy and Safety of Oltipraz for Liver Fat Reduction in Patients With Non-Alcoholic Fatty Liver Disease Except for Liver Cirrhosis Completed NCT02068339 Phase 3
14 Prospective Multicentric Randomized Study of Glivec® in Advanced GIST Expressing C-kit: Interruption After 5 Years vs Maintenance Completed NCT00367861 Phase 3
15 Effects of IL-1 Beta on the HPA-axis in Obese Persons Completed NCT02227420 Phase 3
16 Telmisartan-Induced Reduction in Intra-Myocellular Lipids Trial Completed NCT00147264 Phase 3
17 Total Therapy XVII for Newly Diagnosed Patients With Acute Lymphoblastic Leukemia and Lymphoma Recruiting NCT03117751 Phase 2, Phase 3
18 Safety & Efficacy of Dual Therapy With Raltegravir/Lamivudine Recruiting NCT02284035 Phase 3
19 Dose Effects of Hormone Therapy (Two Doses of Estradiol Associated to Progesterone) on Inflammatory Markers Terminated NCT00236301 Phase 3
20 Evaluation of the Efficacy and Tolerability of Treatment With Interleukin-2 in Severe and Resistant Alopecia Areata Unknown status NCT01840046 Phase 1, Phase 2
21 Metformin vs Conjugated Linoleic Acid and an Intervention Program With Healthy Habits in Obese Children Unknown status NCT02063802 Phase 2
22 A Multicenter Study to Evaluate the Effects of a 91-Day Extended Cycle Oral Contraceptive on Hemostatic Parameters in Healthy Women Completed NCT01252186 Phase 2
23 A Multinational Study to Evaluate the Effects of a 28-Day Oral Contraceptive on Hemostatic Parameters in Healthy Women Completed NCT01388491 Phase 2
24 Efficacy and Safety of Oltipraz in the Patients With Non-alcoholic Fatty Liver Disease Completed NCT01373554 Phase 2
25 Efficacy Study of Pioglitazone and Ramipril Combination Therapy in Treating Non-diabetic Hypertensive Patients. Completed NCT00770497 Phase 2
26 Open Label Study of Sipuleucel-T in Metastatic Prostate Cancer Completed NCT00901342 Phase 2
27 Effects of KDT501 on Metabolic Features in Insulin Resistant Subjects Completed NCT02444910 Phase 2
28 A Mechanistic Study of the Effects of LY518674 on High-Density Lipoprotein Cholesterol (HDL-C) Metabolism Completed NCT00327002 Phase 2
29 ARQ 197 Plus Erlotinib in Patient With Locally Advanced or Metastatic EGFR Mutation-positive Non-small-cell Lung Cancer Completed NCT01580735 Phase 2
30 A Randomized, Double-Blind Trial Comparing the Efficacy and Safety of Fenofibrate, Metformin, Their Combination and Placebo in Patients With Metabolic Syndrome. Completed NCT00703755 Phase 2
31 Extension Study Of Stage 1 Subjects Of Study A3921009 For The Prevention Of Acute Rejection In Kidney Transplant Patient Completed NCT00263328 Phase 2
32 A 12 Week Study To Assess Efficacy And Safety Of GW856553 In Subjects With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00642148 Phase 2
33 E4Relief (Response to Estetrol in Life Improvement for MEnopausal-associated Hot Flushes) Recruiting NCT02834312 Phase 2
34 Dasatinib and Osimertinib (AZD9291) in Advanced Non-Small Cell Lung Cancer With EGFR Mutations Recruiting NCT02954523 Phase 1, Phase 2
35 Phase II Biomarker Study Comparing the Combination of BRAF Inhibitor Dabrafenib With MEK Inhibitor Trametinib Versus the Combination After Monotherapy With Dabrafenib or Trametinib Recruiting NCT02314143 Phase 2
36 Evaluating the Safety and Effectiveness of Interferon-Free Treatment of Hepatitis C Virus Infection in HIV-Coinfected Adults on Antiretroviral Therapy Recruiting NCT02194998 Phase 2
37 "E4/DRSP Endocrine Function, Metabolic Control and Hemostasis Study" Active, not recruiting NCT02957630 Phase 1, Phase 2
38 Study With Atezolizumab Plus Bevacizumab in Patients With Chemotherapy Resistant, MSI-like, Colorectal Cancer Not yet recruiting NCT02982694 Phase 2
39 Atorvastatin for the Treatment of Lithium-Induced Nephrogenic Diabetes Insipidus Not yet recruiting NCT02967653 Phase 2
40 Osimertinib and Bevacizumab Versus Osimertinib Alone as Second-line Treatment in Stage IIIb-IVb NSCLC With Confirmed EGFRm and T790M (BOOSTER) Not yet recruiting NCT03133546 Phase 2
41 A Multicenter Trial Assessing the Efficacy and Safety of tamOxifen Plus LY2228820 in Advanced or Metastatic Breast Cancer Progressing on aromatasE Inhibitors Terminated NCT02322853 Phase 2
42 Metabolic Effects of Thiazolidinediones in Chronic Kidney Disease Terminated NCT00368017 Phase 2
43 Modulation of Response to Hormonal Therapy With Lapatinib and/or Metformin in Patients With Metastatic Breast Cancer Terminated NCT01477060 Phase 2
44 A Study to Evaluate Ovarian Follicular Activity and Hormone Levels for DR-102 Compared to Two 28-Day Oral Contraceptives Completed NCT01291004 Phase 1
45 Using Salsalate to Target Adipocyte Macrophage Infiltration Completed NCT02130804 Phase 1
46 Measurement of Anti-TB Drugs in Lung Tissue From Patients Having Surgery to Treat Tuberculosis Completed NCT00816426 Phase 1
47 Ficlatuzumab and Cetuximab in Recurrent/Metastatic Head and Neck Squamous Cell Carcinoma (HNSCC) Active, not recruiting NCT02277197 Phase 1
48 Ficlatuzumab, Cisplatin and IMRT in Locally Advanced Head and Neck Squamous Cell Carcinoma Terminated NCT02277184 Phase 1
49 De Novo Resistance to Epidermal Growth Factor Receptor-Tyrosine Kinase Inhibitors Unknown status NCT01697163
50 Assessment of the Prevalence of Major Psychiatric Disorders in a Cohort of Women With Clinical Criteria Corresponding to Pure, Abortive-form, Obstetrical, Antiphospholipid Syndrome Completed NCT02833194

Search NIH Clinical Center for Thrombophilia Due to Activated Protein C Resistance

Cochrane evidence based reviews: activated protein c resistance

Genetic Tests for Thrombophilia Due to Activated Protein C Resistance

Genetic tests related to Thrombophilia Due to Activated Protein C Resistance:

id Genetic test Affiliating Genes
1 Thrombophilia Due to Activated Protein C Resistance 29
2 Thrombophilia Due to Factor V Leiden 29

Anatomical Context for Thrombophilia Due to Activated Protein C Resistance

Publications for Thrombophilia Due to Activated Protein C Resistance

Articles related to Thrombophilia Due to Activated Protein C Resistance:

id Title Authors Year
1
[Initial experience in the diagnosis of thrombophilia due to activated protein C resistance]. ( 9173574 )
1997

Variations for Thrombophilia Due to Activated Protein C Resistance

UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Activated Protein C Resistance:

66
id Symbol AA change Variation ID SNP ID
1 F5 p.Arg334Thr VAR_013621 rs118203906
2 F5 p.Arg2102His VAR_017329
3 F5 p.Ile387Thr VAR_032698 rs118203911
4 F5 p.Cys613Arg VAR_032699

ClinVar genetic disease variations for Thrombophilia Due to Activated Protein C Resistance:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 F5 NM_000130.4(F5): c.1001G> C (p.Arg334Thr) single nucleotide variant Pathogenic rs118203906 GRCh37 Chromosome 1, 169524537: 169524537
2 F5 NM_000130.4(F5): c.439G> T (p.Glu147Ter) single nucleotide variant Pathogenic rs118203912 GRCh37 Chromosome 1, 169529939: 169529939
3 F5 NM_000130.4(F5): c.1160T> C (p.Ile387Thr) single nucleotide variant Pathogenic rs118203911 GRCh37 Chromosome 1, 169521931: 169521931

Expression for Thrombophilia Due to Activated Protein C Resistance

Search GEO for disease gene expression data for Thrombophilia Due to Activated Protein C Resistance.

Pathways for Thrombophilia Due to Activated Protein C Resistance

Pathways related to Thrombophilia Due to Activated Protein C Resistance according to GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 APOH F10 F2 F3 F5 F8
2
Show member pathways
12.63 F10 F2 F3 F5 F8 F9
3
Show member pathways
12.13 F2 MTHFR PLAT PLG SERPINE1
4
Show member pathways
12.04 F10 F2 F3 F5 F8 F9
5 11.75 F3 PLG SERPINE1
6
Show member pathways
11.73 F10 F2 F9
7 11.68 F3 SERPINE1 THBD
8
Show member pathways
11.66 F2 FGA VWF
9 11.61 F10 F2 F3 F5 F8 F9
10 11.44 PLAT PLG SERPINE1
11 11.34 F2 FGA VWF
12 11.3 FGA PLAT PLG
13 10.74 PLAT PLG SERPINE1 SERPINF2
14 10.72 F10 F2 F9

GO Terms for Thrombophilia Due to Activated Protein C Resistance

Cellular components related to Thrombophilia Due to Activated Protein C Resistance according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.91 APOH F3 FGA PLAT PLG SERPINF2
2 extracellular region GO:0005576 9.86 APOH F10 F2 F3 F5 F8
3 extracellular matrix GO:0031012 9.85 APOH F3 PLAT SERPINE1 VWF
4 blood microparticle GO:0072562 9.83 F2 FGA PLG SERPINC1 SERPINF2
5 endoplasmic reticulum lumen GO:0005788 9.8 F10 F2 F5 F8 F9 FGA
6 Golgi lumen GO:0005796 9.69 F10 F2 F9
7 platelet alpha granule GO:0031091 9.58 F5 FGA VWF
8 fibrinogen complex GO:0005577 9.49 FGA SERPINF2
9 intrinsic component of external side of plasma membrane GO:0031233 9.48 F10 F3
10 platelet alpha granule lumen GO:0031093 9.23 F5 F8 FGA PF4 PLG SERPINE1
11 extracellular exosome GO:0070062 10.1 APOH F2 F3 F9 FGA PLAT
12 extracellular space GO:0005615 10 APOH F2 F3 F5 F8 F9

Biological processes related to Thrombophilia Due to Activated Protein C Resistance according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.95 F2 F5 FGA PLG SERPINC1
2 platelet degranulation GO:0002576 9.91 APOH F5 F8 FGA PF4 PLG
3 ER to Golgi vesicle-mediated transport GO:0006888 9.89 F10 F2 F5 F8 F9
4 platelet activation GO:0030168 9.88 F2 F5 F8 FGA PF4 VWF
5 fibrinolysis GO:0042730 9.85 F2 FGA PLAT PLG SERPINE1 SERPINF2
6 blood coagulation, intrinsic pathway GO:0007597 9.8 APOH F10 F2 F8 F9 VWF
7 acute-phase response GO:0006953 9.75 F2 F8 SERPINF2
8 regulation of blood coagulation GO:0030193 9.73 APOH F2 SERPINC1
9 blood coagulation GO:0007596 9.73 F10 F2 F3 F5 F8 F9
10 signal peptide processing GO:0006465 9.71 F10 F2 F9
11 positive regulation of blood coagulation GO:0030194 9.7 APOH F2 SERPINE1
12 negative regulation of blood coagulation GO:0030195 9.69 APOH SERPINE1 THBD
13 peptidyl-glutamic acid carboxylation GO:0017187 9.65 F10 F2 F9
14 plasminogen activation GO:0031639 9.63 APOH FGA PLAT
15 negative regulation of fibrinolysis GO:0051918 9.63 APOH F2 PLG SERPINE1 SERPINF2 THBD
16 blood coagulation, extrinsic pathway GO:0007598 9.61 F10 F3 F9
17 negative regulation of platelet activation GO:0010544 9.59 F2 THBD
18 negative regulation of plasminogen activation GO:0010757 9.58 SERPINE1 SERPINF2
19 hemostasis GO:0007599 9.36 F10 F2 F3 F5 F8 F9
20 proteolysis GO:0006508 10.11 F10 F2 F5 F8 F9 PLAT

Molecular functions related to Thrombophilia Due to Activated Protein C Resistance according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.83 F10 F2 F9 PLAT PLG
2 receptor binding GO:0005102 9.72 F2 FGA PLAT PLG SERPINE1
3 serine-type endopeptidase inhibitor activity GO:0004867 9.63 SERPINC1 SERPINE1 SERPINF2
4 phospholipid binding GO:0005543 9.58 APOH F10 F3
5 heparin binding GO:0008201 9.56 APOH F2 PF4 SERPINC1
6 serine-type peptidase activity GO:0008236 9.55 F10 F2 F9 PLAT PLG
7 glycoprotein binding GO:0001948 9.54 APOH PLAT VWF
8 protease binding GO:0002020 9.35 F3 SERPINC1 SERPINE1 SERPINF2 VWF
9 serine-type endopeptidase activity GO:0004252 9.23 F10 F2 F3 F5 F8 F9

Sources for Thrombophilia Due to Activated Protein C Resistance

3 CDC
7 CNVD
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11 DGIdb
16 ExPASy
18 FMA
28 GO
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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43 MESH via Orphanet
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48 NDF-RT
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60 QIAGEN
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