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

Aliases & Classifications for Afibrinogenemia

MalaCards integrated aliases for Afibrinogenemia:

Name: Afibrinogenemia 53 37 29 55 6 72
Congenital Hypofibrinogenemia 72
Congenital Afibrinogenemia 53
Afibrinogenemia Congenital 53


External Ids:

KEGG 37 H00222
UMLS 72 C0001733 C2584774

Summaries for Afibrinogenemia

NIH Rare Diseases : 53 Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or coagulation factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Afibrinogenemia is thought to be transmitted as an autosomal recessive trait. Treatment may include cryoprecipitate (a blood product containing concentrated fibrinogen and other clotting factors), fibrinogen (RiaSTAP) or plasma (the liquid portion of the blood which contains clotting factors).

MalaCards based summary : Afibrinogenemia, also known as congenital hypofibrinogenemia, is related to dysfibrinogenemia, congenital and afibrinogenemia, congenital. An important gene associated with Afibrinogenemia is CFI (Complement Factor I), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drug Complement Factor I has been mentioned in the context of this disorder. Affiliated tissues include placenta, liver and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

KEGG : 37
Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type II deficiencies or dysfibrinogenemia). Fibrinogen deficiency and dysfunction are associated with bleeding or thrombosis.

Related Diseases for Afibrinogenemia

Diseases in the Afibrinogenemia family:

Afibrinogenemia, Congenital

Diseases related to Afibrinogenemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 dysfibrinogenemia, congenital 32.7 FGG FGB FGA
2 afibrinogenemia, congenital 32.5 VWF FGG FGB FGA F3 F2
3 giant hemangioma 30.3 F3 F2
4 spinal cord infarction 30.3 F5 F2
5 purpura 30.0 VWF F3 F2
6 purpura fulminans 30.0 F3 F2
7 bernard-soulier syndrome 29.9 VWF F8 F2
8 dysfibrinogenemia 29.7 FGG FGB FGA F5 F2
9 thrombotic thrombocytopenic purpura 29.6 VWF F3 CD46
10 disseminated intravascular coagulation 29.4 FGA F5 F3 F2
11 factor xiii deficiency 29.3 F8 F5 F3
12 hemophilia 29.3 VWF F8 F3 F2
13 budd-chiari syndrome 29.2 F5 F3 F2
14 intracranial hypertension 29.0 FGA F5 F3 F2
15 blood coagulation disease 28.1 VWF F8 F5 F3 F2
16 von willebrand's disease 28.0 VWF F8 F5 F3 F2 F11
17 thrombosis 27.9 VWF F8 F5 F3 F2 F10
18 thrombophilia due to thrombin defect 27.8 VWF F8 F5 F3 F2 F10
19 thrombophilia 27.7 VWF F8 F5 F3 F2 F11
20 pulmonary embolism 27.7 VWF F5 F3 F2 F10
21 myocardial infarction 26.2 VWF FGB FGA F8 F5 F3
22 hypofibrinogenemia, familial 11.2
23 autosomal recessive disease 10.6
24 c3 glomerulopathy 10.5 CFP C3
25 chronic monocytic leukemia 10.5 F2 C3
26 complement factor h deficiency 10.4 CFI CD46
27 fibrinogen deficiency, congenital 10.4
28 rare coagulation disorder 10.4
29 chronic thromboembolic pulmonary hypertension 10.4 FGB FGA F2
30 complement component 3 deficiency 10.4 CFP CFI C3
31 prothrombin deficiency 10.3 F3 F2
32 fainting 10.3 VWF F8
33 cardiac tamponade 10.3 F8 F2
34 cerebral arteritis 10.3 VWF F8
35 variola minor 10.3 CR1 CD46
36 cerebral falx meningioma 10.3 F3 F2
37 ascending cholangitis 10.3 F2 C3
38 intestinal impaction 10.3 F3 F2
39 active peptic ulcer disease 10.3 VWF F2
40 thyroid crisis 10.3 F8 CR1
41 thrombocytopenia 10.3
42 placental abruption 10.3
43 femoral neuropathy 10.2 F3 F2
44 enterocolitis 10.2 CFI CD46 C3
45 blue toe syndrome 10.2 F3 F2
46 hantavirus pulmonary syndrome 10.2 F3 F2
47 livedoid vasculitis 10.2 F8 F2
48 anterior cranial fossa meningioma 10.2 F3 F2
49 dysbaric osteonecrosis 10.2 F3 C3
50 neisseria meningitidis infection 10.2 CFP CD46 C3

Graphical network of the top 20 diseases related to Afibrinogenemia:

Diseases related to Afibrinogenemia

Symptoms & Phenotypes for Afibrinogenemia

MGI Mouse Phenotypes related to Afibrinogenemia:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 C3 CD46 CFP F10 F11 F2
2 homeostasis/metabolism MP:0005376 10.1 C3 CFI CFP F10 F11 F2
3 hematopoietic system MP:0005397 10.02 C3 CFI F11 F2 F3 F8
4 mortality/aging MP:0010768 9.93 C3 CFP F10 F11 F2 F3
5 immune system MP:0005387 9.91 C3 CFP F11 F2 F3 F8
6 nervous system MP:0003631 9.61 C3 CD46 F11 F2 F3 F5
7 reproductive system MP:0005389 9.23 C3 CD46 F10 F2 F8 FGA

Drugs & Therapeutics for Afibrinogenemia

Drugs for Afibrinogenemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement Factor I

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Early Administration of Fibrinogen Concentrate in Polytraumatized Patients With Thromboelastometry Suggestive of Hypofibrinogenemia: a Randomized Feasibility Trial Completed NCT02864875 Phase 4 Fibrinogen concentrate
2 The Role of Human Fibrinogen Concentrate (RiaSTAP) in Decreasing Blood Loss and the Need for Component Blood Therapy in Infants Undergoing Cardiopulmonary Bypass. Recruiting NCT02822599 Phase 4 RiaStAP;Saline
3 Clinical Pharmacology, Efficacy and Safety Study of FGTW in Paediatric Patients With Severe Congenital Fibrinogen Deficiency Completed NCT02094430 Phase 2, Phase 3 biological: human fibrinogen concentrate
4 Prospective, Open-label, Uncontrolled, Phase III Study to Assess the Efficacy and Safety of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After Surgery in Subjects With Congenital Fibrinogen Deficiency Completed NCT02267226 Phase 3 Octafibrin
5 Prospective, Multi-center, Randomized, Active-control, Non-inferiority Study Comparing Fibrinogen Concentrate With Cryoprecipitate for the Treatment of Acquired Hypofibrinogenemia in Bleeding Adult Cardiac Surgical Patients Completed NCT03037424 Phase 3 Octafibrin;Cryoprecipitate
6 Efficacy and Safety of Haemocomplettan® P in Patients Experiencing Microvascular Bleeding While Undergoing Elective Complex Cardiac Surgery Completed NCT01124981 Phase 2, Phase 3 Haemocomplettan® P;Human albumin (Placebo)
7 A Prospective, Open-label, Phase I/III Study Investigating Pharmacokinetic Properties of BT524 and Efficacy and Safety of BT524 in the Treatment and Prophylaxis of Bleeding in Patients With Congenital Fibrinogen Deficiency Recruiting NCT02065882 Phase 3
8 Prospective, Open-label, Uncontrolled, Phase III Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After Surgery in Paediatric Subjects With Congenital Fibrinogen Deficiency Active, not recruiting NCT02408484 Phase 3
9 Efficacy and Safety of Fibrinogen Concentrate (Human) (FCH) for On-demand Treatment of Acute Bleeding in Subjects With Congenital Fibrinogen Deficiency Withdrawn NCT00916656 Phase 3
10 Pharmacokinetics of Haemocomplettan® P in Subjects With Congenital Fibrinogen Deficiency Completed NCT00496262 Phase 2
11 A Prospective, Controlled, Randomised, Crossover Study Investigating the Pharmacokinetic Properties, Surrogate Efficacy and Safety of Octafibrin Compared to Haemocomplettan® P/RiaSTAPTM in Patients With Congenital Fibrinogen Deficiency Completed NCT01575756 Phase 2
12 Multicenter, Prospective, Open-Label, Single-Arm Trial to Evaluate the Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital Afibrinogenemia Recruiting NCT02281500 Phase 1, Phase 2
13 RiaSTAP vs. Conventional Transfusion for Patients Undergoing Valve Replacement Surgery: RiaCT Terminated NCT01283321 Phase 2 Human fibrinogen concentrate
14 Can we Define a Clinical Score for Predicting of Hypofibrinogenemia in Severe Trauma Completed NCT03020849
15 What Are the Effects of Fibrinogen Concentrate Administration on Biological Parameters Completed NCT03944382
16 A Multicenter Study on the Retrospective Safety and Efficacy of Fibrinogen Concentrate (Human) (FCH) for Routine Prophylaxis, Treatment of Bleeding or Surgery in Subjects With Congenital Fibrinogen Deficiency With a Prospective Followup Component Completed NCT02427217
17 Quality of Life in Patients With Congenital Afibrinogenemia Active, not recruiting NCT03484065
18 Post-marketing Observational Study on the Safety and Efficacy of Fibryga in Congenital Fibrinogen Deficiency Not yet recruiting NCT03793426
19 Obstetric Outcomes of Women Suffering From Hereditary Fibrinogen Disorders Not yet recruiting NCT03920332

Search NIH Clinical Center for Afibrinogenemia

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Genetic Tests for Afibrinogenemia

Genetic tests related to Afibrinogenemia:

# Genetic test Affiliating Genes
1 Afibrinogenemia 29 CFI

Anatomical Context for Afibrinogenemia

MalaCards organs/tissues related to Afibrinogenemia:

Placenta, Liver, Testes, Bone, Prostate, Kidney, Spinal Cord

Publications for Afibrinogenemia

Articles related to Afibrinogenemia:

(show top 50) (show all 688)
# Title Authors PMID Year
Umbilical bleeding: a presenting feature for congenital afibrinogenemia. 38 6
26407137 2015
Clinical audit of inherited bleeding disorders in a developing country. 9 38
20090222 2010
Recurrence of the 'deep-intronic' FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto. 9 38
19551918 2009
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. 9 38
18853456 2009
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent. 9 38
18803553 2009
Inherited bleeding disorders: a 14-year retrospective study. 9 38
19174980 2008
Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient. 9 38
17531448 2007
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. 9 38
17295221 2007
Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects. 9 38
17393016 2007
The molecular basis of quantitative fibrinogen disorders. 9 38
16999847 2006
Rare bleeding disorders. 9 38
16684009 2006
Solvent/detergent plasma for prevention of bleeding in recessively inherited coagulation disorders: dosing, pharmacokinetics and clinical efficacy. 9 38
16670069 2006
[Inherited afibrinogenemia caused by compound heterozygous mutations in the beta beta-chain of fibrinogen]. 9 38
16403286 2005
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. 9 38
12893758 2003
Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. 9 38
12511408 2003
Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA). 9 38
12406899 2003
Inhibition of thrombin generation in plasma by fibrin formation (Antithrombin I). 9 38
12195697 2002
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. 9 38
11354637 2001
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. 9 38
10891444 2000
Inherited disorders of platelet alpha-granules. 9 38
16793651 1997
Congenital afibrinogenemia in Hasan Sadikin Hospital. 9 38
7886594 1993
Haemorheological profile in congenital afibrinogenemia and in congenital dysfibrinogenemia: A clinical case report. 38
31306110 2019
Hereditary afibrinogenemia and pulmonary-renal hydralazine-induced vasculitis. 38
31384199 2019
Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome. 38
30951839 2019
"The Other Side of the Coin": Hemorrhagic Stroke in Congenital Hypofibrinogenemia. 38
31097049 2019
Loss of fibrinogen in zebrafish results in an asymptomatic embryonic hemostatic defect and synthetic lethality with thrombocytopenia. 38
30663848 2019
Impaired factor XIII activation in patients with congenital afibrinogenemia. 38
30262556 2019
Treatment of rare factor deficiencies other than hemophilia. 38
30559262 2019
Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population. 38
30988665 2019
A novel fibrinogen gamma-chain mutation, p.Cys165Arg, causes disruption of the γ165Cys-Bβ227Cys disulfide bond and ultimately leads to hypofibrinogenemia. 38
30412834 2018
Mutational Epidemiology of Congenital Fibrinogen Disorders. 38
30332696 2018
Thromboelastography and thrombin generation assay in inherited afibrinogenemia. 38
30345592 2018
Ischemic Strokes in a Man with Congenital Afibrinogenemia. 38
30019658 2018
Clinical and molecular characterization of nine Chinese patients affected by hypofibrinogenemia or dysfibrinogenemia. 38
29351094 2018
The Novel Protease-Activated Receptor 1 Antagonist Vorapaxar as a Treatment for Thrombosis in Afibrinogenemia. 38
29763961 2018
Prenatal diagnosis in rare bleeding disorders-An unresolved issue? 38
29476647 2018
Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders. 38
29844251 2018
Administering RiaSTAP for Congenital Afibrinogenemia During Liver Transplant. 38
29766777 2018
Intracranial Hemorrhage: A Devastating Outcome of Congenital Bleeding Disorders-Prevalence, Diagnosis, and Management, with a Special Focus on Congenital Factor XIII Deficiency. 38
28898896 2018
[Analysis of a pedigree affected with congenital hypofibrinogenemia due to heterozygous Ser313Ile mutation of fibrinogen γ chain gene]. 38
29652987 2018
Congenital hypofibrinogenemia in pregnancy: a report of 11 cases. 38
29176380 2018
Successful delivery in an patient with afibrinogenemia after three abortions: A case report and review of the literature. 38
29388741 2018
Efficacy and safety of a new human fibrinogen concentrate in patients with congenital fibrinogen deficiency: an interim analysis of a Phase III trial. 38
29194665 2018
Pharmacokinetics, clot strength and safety of a new fibrinogen concentrate: randomized comparison with active control in congenital fibrinogen deficiency. 38
29220876 2018
Clinical Consequences and Molecular Bases of Low Fibrinogen Levels. 38
29316703 2018
Combined life-threatening thromboses and hemorrhages in a patient with afibrinogenemia and antithrombin deficiency. 38
29636644 2018
Intracranial hemorrhage in congenital bleeding disorders. 38
28901996 2018
Diagnosis of Hypofibrinogenemia After Dental Treatment Under General Anesthesia. 38
29482685 2018
Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders. 38
29286337 2017
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains. 38
29240685 2017

Variations for Afibrinogenemia

ClinVar genetic disease variations for Afibrinogenemia:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CFI NM_000204.4(CFI): c.162C> G (p.Cys54Trp) single nucleotide variant Pathogenic rs1553915717 4:110687876-110687876 4:109766720-109766720
2 CFI NM_000204.4(CFI): c.1253A> T (p.His418Leu) single nucleotide variant Pathogenic rs121964912 4:110667554-110667554 4:109746398-109746398
3 CFI CFI, IVS5DS G-A, -1 single nucleotide variant Pathogenic
4 CFI CFI, 2-BP INS, 1205AT insertion Pathogenic
5 CFI NM_000204.4(CFI): c.728G> A (p.Gly243Asp) single nucleotide variant Pathogenic rs121964916 4:110681723-110681723 4:109760567-109760567
6 CFI NM_000204.4(CFI): c.1532C> T (p.Ala511Val) single nucleotide variant Uncertain significance 4:110663649-110663649 4:109742493-109742493

Expression for Afibrinogenemia

Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for Afibrinogenemia

Pathways related to Afibrinogenemia according to KEGG:

# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
12.53 FGG FGB FGA F8 F5 F3
Show member pathways
Show member pathways
Show member pathways
11.96 CR1 CFI CD46 C3
Show member pathways
11.93 CR1 CFP CFI CD46 C3
Show member pathways
Show member pathways
Show member pathways
11.76 CR1 CFP CD46 C3
Show member pathways
12 11.69 FGG CFI C3
13 11.61 VWF FGG FGB FGA F8 F5
14 11.39 FGG FGB FGA
15 11.36 VWF FGG FGB FGA F2
16 10.73 F2 F10

GO Terms for Afibrinogenemia

Cellular components related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.95 FGG FGB FGA F3 CR1 CD46
2 collagen-containing extracellular matrix GO:0062023 9.85 VWF FGG FGB FGA F3 CFP
3 external side of plasma membrane GO:0009897 9.84 FGG FGB FGA F2
4 blood microparticle GO:0072562 9.83 FGG FGB FGA F2 C3
5 endoplasmic reticulum lumen GO:0005788 9.76 FGG FGA F8 F5 F2 F10
6 extracellular vesicle GO:1903561 9.7 FGB FGA F5
7 fibrinogen complex GO:0005577 9.58 FGG FGB FGA
8 intrinsic component of external side of plasma membrane GO:0031233 9.51 F3 F10
9 platelet alpha granule lumen GO:0031093 9.43 VWF FGG FGB FGA F8 F5
10 platelet alpha granule GO:0031091 9.02 VWF FGG FGB FGA F5
11 plasma membrane GO:0005886 10.27 FGG FGB FGA F8 F5 F3
12 extracellular exosome GO:0070062 10.16 VWF FGG FGB FGA F2 F11
13 extracellular space GO:0005615 10.1 FGG FGB FGA F8 F5 F3
14 extracellular region GO:0005576 10.07 VWF FGG FGB FGA F8 F5

Biological processes related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.97 FGG FGA F5 C3
2 extracellular matrix organization GO:0030198 9.94 VWF FGG FGB FGA
3 ER to Golgi vesicle-mediated transport GO:0006888 9.93 F8 F5 F2 F10
4 proteolysis GO:0006508 9.93 F2 F11 F10 CFI
5 cellular protein metabolic process GO:0044267 9.93 FGG FGA F5 F2 C3
6 complement activation, classical pathway GO:0006958 9.91 CR1 CFI CD46 C3
7 platelet degranulation GO:0002576 9.85 VWF FGG FGB FGA F8 F5
8 cell-matrix adhesion GO:0007160 9.83 FGG FGB FGA
9 response to calcium ion GO:0051592 9.82 FGG FGB FGA
10 platelet aggregation GO:0070527 9.79 FGG FGB FGA
11 positive regulation of protein secretion GO:0050714 9.78 FGG FGB FGA
12 toll-like receptor signaling pathway GO:0002224 9.77 FGG FGB FGA
13 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.77 FGG FGB FGA
14 negative regulation of endothelial cell apoptotic process GO:2000352 9.76 FGG FGB FGA
15 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.75 FGG FGB FGA
16 positive regulation of vasoconstriction GO:0045907 9.74 FGG FGB FGA
17 positive regulation of exocytosis GO:0045921 9.73 FGG FGB FGA
18 fibrinolysis GO:0042730 9.73 FGG FGB FGA F2
19 regulation of complement activation GO:0030449 9.73 F2 CR1 CFP CFI CD46 C3
20 cellular protein-containing complex assembly GO:0034622 9.72 FGG FGB FGA
21 blood coagulation, intrinsic pathway GO:0007597 9.71 VWF F8 F2 F11
22 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.7 FGG FGB FGA
23 protein polymerization GO:0051258 9.69 FGG FGB FGA
24 positive regulation of peptide hormone secretion GO:0090277 9.67 FGG FGB FGA
25 regulation of blood coagulation GO:0030193 9.66 F2 F11
26 complement activation, alternative pathway GO:0006957 9.66 CFP C3
27 induction of bacterial agglutination GO:0043152 9.65 FGB FGA
28 hemostasis GO:0007599 9.65 VWF FGG FGB FGA F8 F5
29 blood coagulation, fibrin clot formation GO:0072378 9.63 FGG FGB FGA
30 platelet activation GO:0030168 9.63 VWF FGG FGB FGA F8 F2
31 blood coagulation, extrinsic pathway GO:0007598 9.62 F3 F10
32 plasminogen activation GO:0031639 9.62 FGG FGB FGA F11
33 blood coagulation GO:0007596 9.32 VWF FGG FGB FGA F8 F5
34 immune system process GO:0002376 10.05 FGB FGA CR1 CD46 C3
35 innate immune response GO:0045087 10.02 FGB FGA CR1 CFP CFI CD46

Molecular functions related to Afibrinogenemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.72 FGG FGB FGA F2 C3
2 cell adhesion molecule binding GO:0050839 9.54 FGG FGB FGA
3 serine-type peptidase activity GO:0008236 9.46 F2 F11 F10 CFI
4 extracellular matrix structural constituent GO:0005201 9.26 VWF FGG FGB FGA
5 serine-type endopeptidase activity GO:0004252 9.02 F3 F2 F11 F10 CFI
6 protein binding GO:0005515 10.13 VWF SRSF1 FGG FGB FGA F8

Sources for Afibrinogenemia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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