Factor Vii Deficiency (FA7D)

Categories: Blood diseases, Genetic diseases, Nephrological diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Factor Vii Deficiency

MalaCards integrated aliases for Factor Vii Deficiency:

Name: Factor Vii Deficiency 57 12 75 53 25 74 37 29 13 55 6 44 15 72
Hypoproconvertinemia 57 53 25 59 74
F7 Deficiency 57 53 25 74
Congenital Proconvertin Deficiency 53 59 74
Factor 7 Deficiency 53 74
Serum Prothrombin Conversion Accelerator Deficiency 25
Prothrombin Conversion Accelerator Deficiency 25
Congenital Factor Vii Deficiency 59
Proconvertin Deficiency 25
Deficiency, Factor Vii 40
Deficiency, Stable 12
Stable Disease 55
Fa7d 74


Orphanet epidemiological data:

congenital factor vii deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;


autosomal recessive

variable severity
incidence of 1 in 500,000 live births


factor vii deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


External Ids:

Disease Ontology 12 DOID:2215
OMIM 57 227500
KEGG 37 H02256
MeSH 44 D005168
NCIt 50 C131631
SNOMED-CT 68 37193007
ICD10 33 D68.2
ICD10 via Orphanet 34 D68.2
UMLS via Orphanet 73 C0015503
Orphanet 59 ORPHA327
MedGen 42 C0015503
UMLS 72 C0015503

Summaries for Factor Vii Deficiency

NIH Rare Diseases : 53 Factor VII deficiency is a rare bleeding disorder. The age of onset and severity varies from person to person. While severe cases may become apparent in infancy, very mild cases may never cause any bleeding problems. Signs and symptoms may include nosebleeds; easy bruising; bleeding gums; excessive or prolonged bleeding after injury or surgery; and heavy or prolonged menstrual bleeding in women. Some people with factor VII deficiency may have bleeding in the joints or blood in the urine. In very severe cases, factor VII deficiency can be life-threatening, causing bleeding inside the skull or digestive tract. Factor VII deficiency may be inherited or acquired. The inherited from is caused by mutations in the F7 gene and inheritance is autosomal recessive. The acquired form is not inherited and may be caused by liver disease, blood cell disorders, certain drugs, or vitamin K deficiency. Treatment for bleeding may include intravenous infusions of normal plasma, concentrated factor VII, or genetically-made (recombinant) factor VII. Those with acquired factor VII deficiency due to vitamin K deficiency may take vitamin K by mouth, injection, or infusion.

MalaCards based summary : Factor Vii Deficiency, also known as hypoproconvertinemia, is related to acquired hemophilia a and factor viii deficiency, and has symptoms including epistaxis An important gene associated with Factor Vii Deficiency is F7 (Coagulation Factor VII), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Doxorubicin and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include Liver, lung and breast, and related phenotypes are gastrointestinal hemorrhage and intracranial hemorrhage

Disease Ontology : 12 An inherited blood coagulation disease that is characterized by easy bleeding, has symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has material basis in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.

Genetics Home Reference : 25 Factor VII deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in infancy. However, up to one-third of people with factor VII deficiency never have any bleeding problems. Factor VII deficiency commonly causes nosebleeds (epistaxis), bleeding of the gums, easy bruising, and prolonged or excessive bleeding following surgery or physical injury. Bleeding into joint spaces (hemarthrosis) and blood in the urine (hematuria) occasionally occur. Many women with factor VII deficiency have heavy or prolonged menstrual bleeding (menorrhagia). Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage) or in the gastrointestinal tract, which can be life-threatening. Although factor VII deficiency is primarily associated with increased bleeding, some people with the condition have excessive blood clotting (thrombosis).

OMIM : 57 Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al., 2000). Perry (2002) provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, and a summary of 120 mutations. (227500)

KEGG : 37
FVII deficiency is a rare autosomal recessive hemorrhagic condition of variable severity. FVII is a zymogen for a vitamin K-dependent serine protease essential for the initiation of blood coagulation. Complete absence of FVII activity in plasma is usually incompatible with life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with mutations in their F7 genes, however, are either asymptomatic or the clinical phenotype is unknown.

UniProtKB/Swiss-Prot : 74 Factor VII deficiency: A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels.

Wikipedia : 75 Factor VII deficiency is a bleeding disorder characterized by a lack in the production of Factor VII... more...

Related Diseases for Factor Vii Deficiency

Diseases related to Factor Vii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 283)
# Related Disease Score Top Affiliating Genes
1 acquired hemophilia a 32.2 F9 F8 F3
2 factor viii deficiency 30.3 F8 F2
3 purpura fulminans 30.1 F3 F2
4 thrombophlebitis 29.9 F8 F2
5 compartment syndrome 29.9 F8 F2
6 protein s deficiency 29.9 F3 F2
7 stroke, ischemic 29.9 F7 F3 F2
8 protein c deficiency 29.7 F9 F2
9 antiphospholipid syndrome 29.7 F3 F2 F10
10 disseminated intravascular coagulation 29.7 F9 F7 F3 F2
11 factor xi deficiency 29.6 F9 F3 F2
12 pulmonary embolism 29.6 F9 F3 F2 F10
13 hemarthrosis 29.6 F9 F8 F7 F10
14 cardiac tamponade 29.2 F9 F8 F2
15 hemophilia 29.2 F9 F8 F7 F3 F2
16 hemophilia a 29.1 F9 F8 F7 F3 F10
17 thrombophilia due to thrombin defect 29.1 F8 F3 F2 F10
18 factor x deficiency 29.0 F9 F7 F3 F2 F10
19 von willebrand's disease 29.0 F9 F8 F3 F2
20 afibrinogenemia 28.8 F8 F3 F2 F10
21 thrombosis 28.6 F9 F8 F7 F3 F2 F10
22 factor v deficiency 28.3 F9 F8 F7 F3 F2 F10
23 hemorrhagic disease 28.3 F9 F8 F7 F3 F2 F10
24 hemophilia b 27.6 F9 F8 F7 F3 F2 F10
25 heparin-induced thrombocytopenia 10.5 F3 F10
26 carotid artery thrombosis 10.5 F3 F10
27 malignant skin fibrous histiocytoma 10.4 F9 F7
28 mesenteric vascular occlusion 10.4 F7 F2
29 cerebral falx meningioma 10.3 F3 F2
30 intestinal impaction 10.3 F3 F2
31 cerebral sinovenous thrombosis 10.3 F3 F2
32 giant hemangioma 10.3 F3 F2
33 qualitative platelet defect 10.3 F3 F2
34 autosomal recessive disease 10.3
35 sagittal sinus thrombosis 10.3 F3 F2
36 factor xii deficiency 10.3 F9 F3
37 malignant dermis tumor 10.3 F9 F7
38 femoral neuropathy 10.3 F3 F2
39 blue toe syndrome 10.3 F3 F2
40 hantavirus pulmonary syndrome 10.3 F3 F2
41 marantic endocarditis 10.3 F3 F2
42 korean hemorrhagic fever 10.3 F3 F2
43 prothrombin deficiency, congenital 10.3 F2 F10
44 splenic disease 10.3 F3 F2
45 hepatic infarction 10.3 F3 F2
46 peripheral vertigo 10.3 F3 F2
47 blood protein disease 10.3 F3 F2
48 antithrombin iii deficiency 10.2 F2 F10
49 endocardium disease 10.2 F3 F2
50 vitamin k deficiency bleeding 10.2

Graphical network of the top 20 diseases related to Factor Vii Deficiency:

Diseases related to Factor Vii Deficiency

Symptoms & Phenotypes for Factor Vii Deficiency

Human phenotypes related to Factor Vii Deficiency:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastrointestinal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002239
2 intracranial hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002170
3 gingival bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0000225
4 epistaxis 59 32 frequent (33%) Frequent (79-30%) HP:0000421
5 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
6 menorrhagia 59 32 frequent (33%) Frequent (79-30%) HP:0000132
7 prolonged prothrombin time 59 32 frequent (33%) Frequent (79-30%) HP:0008151
8 prolonged bleeding after surgery 59 32 frequent (33%) Frequent (79-30%) HP:0004846
9 joint hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0005261
10 ovarian cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0000138
11 abnormality of the umbilical cord 59 32 occasional (7.5%) Occasional (29-5%) HP:0010881
12 post-partum hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0011891
13 abnormal bleeding 32 HP:0001892
14 intramuscular hematoma 32 HP:0012233
15 reduced factor vii activity 32 HP:0008169

Symptoms via clinical synopsis from OMIM:

Head And Neck Nose:

Genitourinary Internal Genitalia Female:


Laboratory Abnormalities:
factor vii deficiency

Neurologic Central Nervous System:
intracranial hemorrhage

bleeding diathesis

Muscle Soft Tissue:
intramuscular hematomas

Clinical features from OMIM:



  • epistaxis

MGI Mouse Phenotypes related to Factor Vii Deficiency:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 F10 F2 F3 F7 F8 F9

Drugs & Therapeutics for Factor Vii Deficiency

Drugs for Factor Vii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 644)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
Vincristine Approved, Investigational Phase 4 57-22-7, 2068-78-2 5978
ofatumumab Approved Phase 4 679818-59-8 6918251
Bleomycin Approved, Investigational Phase 4 11056-06-7 5360373
Ustekinumab Approved, Investigational Phase 4 815610-63-0
Adalimumab Approved Phase 4 331731-18-1 16219006
Etanercept Approved, Investigational Phase 4 185243-69-0
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
Nevirapine Approved Phase 4 129618-40-2 4463
Sorafenib Approved, Investigational Phase 4 284461-73-0 216239 406563
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
Tegafur Approved, Investigational Phase 4 17902-23-7 5386
Aldesleukin Approved Phase 4 85898-30-2, 110942-02-4
Vemurafenib Approved Phase 4 918504-65-1 42611257 23252090
Liposomal doxorubicin Phase 4 31703
18 Cytochrome P-450 CYP3A Inducers Phase 4
19 Cytochrome P-450 Enzyme Inducers Phase 4
20 Reverse Transcriptase Inhibitors Phase 4
21 Neuromuscular Agents Phase 4
22 Acetylcholine Release Inhibitors Phase 4
23 incobotulinumtoxinA Phase 4
24 Protein Kinase Inhibitors Phase 4
25 Liver Extracts Phase 4
26 glucocorticoids Phase 4
27 Hormones Phase 4
28 Hormone Antagonists Phase 4
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
30 Anti-Inflammatory Agents Phase 4
31 Antibodies Phase 4
32 Immunoglobulins Phase 4
33 Antineoplastic Agents, Hormonal Phase 4
34 Interleukin-2 Phase 4
Epirubicin Approved Phase 3 56420-45-2 41867
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
Amphotericin B Approved, Investigational Phase 2, Phase 3 1397-89-3 14956 5280965
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
Isotretinoin Approved Phase 3 4759-48-2 5282379 5538
Nedaplatin Approved, Investigational Phase 3 95734-82-0
Gefitinib Approved, Investigational Phase 3 184475-35-2 123631
Melphalan Approved Phase 3 148-82-3 460612 4053
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
Medroxyprogesterone acetate Approved, Investigational Phase 3 71-58-9
Vindesine Approved, Investigational Phase 3 59917-39-4, 53643-48-4 40839
Teniposide Approved Phase 3 29767-20-2 34698
Amifostine Approved, Investigational Phase 3 20537-88-6 2141
Dimethyl sulfoxide Approved, Vet_approved Phase 3 67-68-5 679
Mitotane Approved Phase 3 53-19-0 4211

Interventional clinical trials:

(show top 50) (show all 1713)
# Name Status NCT ID Phase Drugs
1 A Single-arm, International, Multi-center Trial Investigating the Efficacy and Safety of Ofatumumab Retreatment and Maintenance in CLL Patients Who Progressed Following Response or Stable Disease After Ofatumumab Treatment in Hx-CD20-406 Completed NCT00802737 Phase 4 Ofatumumab
2 Tight Control Dose Reductions of Biologics in Psoriasis Patients With Low Disease Activity: A Randomized Pragmatic Trial Completed NCT02602925 Phase 4
3 Open-label, Efficacy and Safety Study of Bevacizumab (Avastin®) in Combination With XELOX (Oxaliplatin Plus Xeloda®) for the First-line Treatment of Patients With Metastatic Cancer of the Colon or Rectum - 'OBELIX' Completed NCT00577031 Phase 4 bevacizumab [Avastin];Oxaliplatin;Xeloda
4 Phase IV.III Clinical Trial to Evaluate Maintenance Treatment With Caelyx vs. Observation After Administration of Induction Chemotherapy in Metastatic Breast Cancer Patients Completed NCT00128778 Phase 4 Pegylated liposomal doxorubicin
5 An Open-label, Multi-center Phase 2 Study to Evaluate Everolimus as Monotherapy Treatment for Patients With Metastatic Recurrent and/or Unresectable Renal Cell Carcinoma (EVERMORE). Completed NCT01206764 Phase 4 RAD001
6 Outcome of Cisplatin and Vinblastine Versus Paclitaxel and Carboplatin as Sequential Chemotherapy Followed by Radiotherapy in Locally Advanced Non-small Cell Lung Cancer Completed NCT03092986 Phase 4 Paclitaxel;Carboplatin;Cisplatin;Vinblastine Sulfate
7 A Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Incobotulinumtoxin Type A for the Functional Improvement of Lower Extremity Spasticity in Patients With Multiple Sclerosis Completed NCT01968902 Phase 4
8 A Prospective Randomized Trial Comparing the Response of HIV Kaposi's Sarcoma (KS) to HAART Versus the Combination of HAART and Chemotherapy (CXT) Completed NCT00380770 Phase 4 Generic HAART Triomune : d4T, 3TC, NVP;Generic HAART Triomune : d4T, 3TC, NVP and chemotherapy ABV
9 A Phase 4, Open-label, Single-Arm Study of Brentuximab Vedotin in Patients With Relapsed or Refractory Systemic Anaplastic Large Cell Lymphoma Recruiting NCT01909934 Phase 4 brentuximab vedotin
10 Mechanism of Sorafenib Resistance in Patients With Advanced Hepatocellular Carcinoma Recruiting NCT02733809 Phase 4 Sorafenib
11 Anti-inflammatory Effects of Tiotropium in Patients With Stable COPD- A Multicenter Randomized Controlled Double-blind Study Not yet recruiting NCT04061161 Phase 4 Tiotropium Bromide
12 A Randomized, Controlled, Double Blind, Multicenter Study of Nimotuzumab Plus S1 Versus Placebo Plus S1 as Maintenance Treatment in Patients With Advanced or Metastatic Pancreatic Cancer After First-line Treatment Not yet recruiting NCT02945267 Phase 4 Nimotuzumab plus S1;Placebo plus S1
13 Randomized Open-label Study of the Impact of Prolonged Systemic Corticosteroid Therapy on the Course and Relapse Risk of Checkpoint Inhibitor Interstitial Lung Disease (Pneumonitis) Related to the Treatment of Solid Tumors With Anti-programmed-death Type 1 Receptor or Ligand Antibodies Not yet recruiting NCT04036721 Phase 4 Prolonged glucocorticosteroid (prednisone) regimen;Short glucocorticosteroid (prednisone) regimen
14 A Multi-Center Study of High Dose Aldesleukin (Interleukin-2) + Vemurafenib Therapy in Patients With BRAFV600 Mutation Positive Metastatic Melanoma Terminated NCT01683188 Phase 4 vemurafenib + HD IL-2
15 Replacement of Nebulised Ipratropium With Inhaled Tiotropium in Stable COPD Withdrawn NCT00335621 Phase 4 Inhaled Tiotropium
16 Phase III Study of Icotinib With Concurrent Radiotherapy as First-line Treatment for Unresectable/Oligometastasis NSCLC With EGFR Activating Mutation: a Prospective, Multicentre, Open-label, Randomised Study Unknown status NCT02883543 Phase 3 icotinib;Chemotherapy
17 Randomized Phase 3 Study of Xelox(Capecitabine Plus Oxaliplatin) Followed by Maintenance Capecitabine or Observation in Patients With Advanced Gastric Adenocarcinoma Unknown status NCT02289547 Phase 3 Capecitabine
18 Randomized Study of Docetaxel Versus Docetaxel Plus Genasense™ (G3139; Bcl-2 Antisense Oligonucleotide) in Patients With Previously Treated Non-Small Cell Lung Cancer Unknown status NCT00030641 Phase 2, Phase 3 docetaxel
19 Maintenance Paclitaxel Vs Control After Anthracycline/Paclitaxel Combined First-Line Chemotherapy in Metastatic Breast Cancer Unknown status NCT00289263 Phase 3 Paclitaxel
20 Apatinib as Maintenance Therapy After First Line Treatment in Locally Advanced or Metastatic Gastric Cancer: A Randomized, Parallel, Controlled Study Unknown status NCT02537171 Phase 3 apatinib
21 A British Thoracic Oncology Group Phase III Trial of Gemcitabine Plus Cisplatin at 80mg/m Versus Gemcitabine Plus Carboplatin At 50 mg/m Versus Gemcitabine Plus Carboplatin AUC 6 in Stage IIIB/IV Non-Small Cell Lung Cancer (NSCLC) Unknown status NCT00112710 Phase 3 carboplatin;cisplatin;gemcitabine hydrochloride
22 A Prospective, Randomized, Multicenter, Open Label Phase III Study of Active Specific Immunotherapy With Racotumomab Plus Best Support Treatment Versus Best Support Treatment in Patients With Advanced Non-small Cell Lung Camcer. Unknown status NCT01460472 Phase 3
23 ONCONASE Plus Doxorubicin Versus Doxorubicin For Patients With Malignant Pleural or Peritoneal Mesothelioma Who Have Had No More Than One Prior Chemotherapy Regimen Unknown status NCT00003034 Phase 3 doxorubicin hydrochloride;ranpirnase
24 A Phase II/III, Randomised, Two-Arm, Comparison of Maintenance Lapatinib Versus Placebo After First-Line Chemotherapy in Patients With HER1 and/or HER2 Overexpressing Locally Advanced or Metastatic Bladder Cancer [LaMB] Unknown status NCT00949455 Phase 2, Phase 3 lapatinib ditosylate
25 A Randomized, Phase III Trial of Prophylactic Cranial Irradiation (PCI) in Patients With Advanced Non-small Cell Lung Cancer (NSCLC) Who Are Nonprogressive on Gefitinib or Erlotinib Unknown status NCT00955695 Phase 3 erlotinib hydrochloride;gefitinib
26 A Prospective, Randomized Phase III Study to Compare the Effects of Paclitaxel and Topotecan to Those of Cisplatin and Topotecan for Treatment of Patients With Recurrent and Persistent Cervical Cancer Unknown status NCT01405235 Phase 3 Paclitaxel;Cisplatin/Paclitaxel
27 A Randomised Phase III Trial Comparing Hepatic Arterial Injection of Yttrium-90 Resin Microspheres (SIR-spheres) Plus Systemic Maintenance Therapy Versus Systemic Maintenance Therapy Alone for Patients With Unresectable Liver Metastases From Colorectal Cancer Which Are Controlled After Induction Systemic Therapy Unknown status NCT01895257 Phase 3 systemic chemotherapy LV5FU2
28 A Partially-Blind Phase III Randomized Trial of Fulvestrant (Faslodex™) With or Without Concomitant Anastrozole (Arimidex™) Compared With Exemestane in Postmenopausal Women With ER+ve Locally Advanced/Metastatic Breast Cancer Following Progression on Non-Steroidal Aromatase Inhibitors Unknown status NCT00253422 Phase 3 anastrozole;exemestane;fulvestrant
29 Vinorelbine Versus Gemcitabine Versus Gemcitabine and Vinorelbine in Elderly Patients With Stage IIIB-IV Non-Small Cell Lung Cancer Unknown status NCT00003447 Phase 3 gemcitabine hydrochloride;vinorelbine tartrate
30 CT-2103 vs Docetaxel for the Second-Line Treatment of Non-Small Cell Lung Cancer (NSCLC): A Phase III Study Unknown status NCT00054184 Phase 3 docetaxel;paclitaxel poliglumex
34 A Clinical Trial Comparing Preoperative Radiation Therapy And Capecitabine With or Without Oxaliplatin With Preoperative Radiation Therapy And Continuous Intravenous Infusion Of 5-Fluorouracil With or Without Oxaliplatin In The Treatment Of Patients With Operable Carcinoma Of The Rectum Unknown status NCT00058474 Phase 3 capecitabine;fluorouracil;oxaliplatin
35 A Randomised Clinical Trial of Treatment for Fluorouracil-Resistant Advanced Colorectal Cancer Comparing Standard Single-Agent Irinotecan Versus Irinotecan Plus Panitumumab and Versus Irinotecan Plus Ciclosporin [Panitumumab, Irinotecan & Ciclosporin in COLOrectal Cancer Therapy (PICCOLO)] Unknown status NCT00389870 Phase 3 cyclosporine;irinotecan hydrochloride
36 Maintenance and Reinduction Chemotherapy With Avastin in Metastatic Colon Cancer: The MARTHA (SICOG 0803) Trial Unknown status NCT00797485 Phase 3 capecitabine;fluorouracil;irinotecan hydrochloride;leucovorin calcium
37 TACE-2: A Randomized Placebo-Controlled, Double Blinded, Phase III Trial of Sorafenib in Combination With Transarterial Chemoembolization in Hepatocellular Cancer Unknown status NCT01324076 Phase 3 doxorubicin-eluting beads;sorafenib tosylate
38 The Effect of Celecoxib on Concurrent Chemoradiation With Weekly Nedaplatin in Nasopharyngeal Carcinoma Unknown status NCT02537925 Phase 3 Celecoxib;Nedaplatin
39 RCT Of Oral Thalidomide And Capecitabine Versus Supportive Therapy In The Treatment Of Unresectable Hepatocellular Carcinoma (BCLC D) Unknown status NCT01438450 Phase 2, Phase 3 Oral
40 Myeloma X Relapse (Intensive): A Phase III Study to Determine the Role of a Second Autologous Stem Cell Transplant as Consolidation Therapy in Patients With Relapsed Multiple Myeloma Following Prior High-dose Chemotherapy and Autologous Stem Cell Rescue. Unknown status NCT00747877 Phase 3 cyclophosphamide;melphalan
41 Randomized Phase III Study of Fulvestrant as Maintenance Therapy After First-line Chemotherapy in HER2 Negative Postmenopausal Metastatic Breast Cancer Patients Unknown status NCT02383030 Phase 3 Fulvestrant
42 A Randomized Controlled Study of Velcade (Bortezomib) Plus Thalidomide Plus Dexamethasone Compared to Thalidomide Plus Dexamethasone for the Treatment of Myeloma Patients Progressing or Relapsing After Autologous Transplantation Unknown status NCT00256776 Phase 3 Velcade (Bortezomib);Thalidomide;Dexamethasone
43 Phase III, Randomized, Multicenter Study to Assess the Efficacy and Safety of HuM195 (Recombinant Humanized Anti-CD33 Monoclonal Antibody) in Combination With Standardized Chemotherapy Compared to Standardized Chemotherapy Alone in the Treatment of Patients With Refractory or First-Relapsed Acute Myelogenous Leukemia (AML) Unknown status NCT00006045 Phase 3 cytarabine;etoposide;mitoxantrone hydrochloride
44 A Randomized, Open-label, Multi-center Phase III Study Designed to Evaluate the Safety and Efficacy of E10A in Patients With Recurrent/Unresectable Squamous Cell Carcinoma of the Head and Neck Region Unknown status NCT02630264 Phase 3 Endostatins;Paclitaxel injection;Cisplatin injection
45 Prospective Controlled Trial in Clinical Stages I-II Supradiaphragmatic Hodgkin's Disease: Evaluation of Treatment Efficacy, (Long Term) Toxicity and Quality of Life in Two Different Prognostic Subgroups Unknown status NCT00005584 Phase 3 ABVD regimen;BEACOPP regimen;epirubicin hydrochloride;prednisone;vinblastine sulfate
46 NB2004 Trial Protocol for Risk Adapted Treatment of Children With Neuroblastoma Unknown status NCT00410631 Phase 3 carboplatin;cisplatin;cyclophosphamide;dacarbazine;doxorubicin hydrochloride;etoposide phosphate;ifosfamide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate;vindesine
47 A Multicentre, Randomized, Open Label, Phase III Study of Gemcitabine Versus FOLFOX in the First Line Setting for Metastatic Pancreatic Cancer Patients Using Human Equilibrative Nucleoside Transporter 1 (hENT1) Biomarker Testing. Unknown status NCT01586611 Phase 3 5FU, leucovorin, oxaliplatin;Gemcitabine
48 A Randomized Phase III Trial of Marimastat Versus Placebo in Patients With Metastatic Breast Cancer Who Have Responding or Stable Disease After Induction Chemotherapy Completed NCT00003010 Phase 3 marimastat
49 A Randomized, Phase III Comparison of Gemcitabine/Irinotecan Followed by IRESSA Versus Paclitaxel/Carboplatin/Etoposide Followed by IRESSA in the First-Line Treatment of Patients With Carcinoma of Unknown Primary Site Completed NCT00193596 Phase 3 Etoposide;Gemcitabine;Irinotecan;Paclitaxel;Carboplatin
50 Open Label Extension Study of Lanreotide Autogel 120 mg in Patients With Non-functioning Entero-pancreatic Endocrine Tumour Completed NCT00842348 Phase 3 lanreotide (Autogel formulation)

Search NIH Clinical Center for Factor Vii Deficiency

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

antihemophilic factor, human
Antihemophilic Factor, Human Recombinant
Antihemophilic factor, porcine
Factor VIII
nonacog alfa
recombinant FVIIa

Cochrane evidence based reviews: factor vii deficiency

Genetic Tests for Factor Vii Deficiency

Genetic tests related to Factor Vii Deficiency:

# Genetic test Affiliating Genes
1 Factor Vii Deficiency 29 F7

Anatomical Context for Factor Vii Deficiency

MalaCards organs/tissues related to Factor Vii Deficiency:

Lung, Breast, T Cells, Prostate, B Cells, Brain, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Factor Vii Deficiency:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate

Publications for Factor Vii Deficiency

Articles related to Factor Vii Deficiency:

(show top 50) (show all 898)
# Title Authors PMID Year
Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211-->Term). 38 8 71
11529858 2001
Factor VII deficiency and the FVII mutation database. 38 8 71
11139238 2001
Two novel factor VII gene mutations in a Chinese family with factor VII deficiency. 38 8 71
11091194 2000
Twenty two novel mutations of the factor VII gene in factor VII deficiency. 38 8 71
10862079 2000
Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. 38 8 71
8883260 1996
A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. 38 8 71
8652821 1996
Molecular analysis of Polish patients with factor VII deficiency. 38 8 71
7919338 1994
Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). 38 8 71
1634227 1992
A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency. 8 71
14717781 2004
Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro). 8 71
7981691 1994
A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency. 9 38 71
11110717 2000
Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. 9 38 8
9680360 1998
Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain. 9 38 71
9414278 1998
Factor VII Deficiency. 38 8
12181036 2002
Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency. 38 8
11313743 2001
Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis. 38 8
11225604 2001
Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. 38 8
11129332 2000
Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter. 38 71
9716591 1998
Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency. 38 71
9576180 1998
Inherited factor VII deficiency: molecular genetics and pathophysiology. 38 8
9198146 1997
Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter. 38 71
8978290 1997
Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding, impairs activation by factor Xa, and abolishes amidolytic and coagulant activity. 38 71
8940045 1996
Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg(247) (CGC) in the catalytic domain. 38 71
7974346 1994
Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis. 38 8
4063521 1985
Hereditary factor VII deficiency in a Chinese family. 38 8
6836231 1983
Studies on a family with the factor VII defect. 38 8
6821712 1983
Factor VII deficiency: immunological characterization of genetic variants and detection of carriers. 38 8
7248191 1981
Factor VII deficiency. 38 8
7258184 1981
Factor VII Padua 2: another factor VII abnormality with defective ox brain thromboplastin activation and a complex hereditary pattern. 38 8
444674 1979
Congenital factor VII deficiency. A report of four new cases. 38 8
760871 1979
Factor VII verona coagulation disorder: double heterozygosis with an abnormal factor VII and heterozygous factor VII deficiency. 38 8
901936 1977
Hereditary factor-VII deficiency in the beagle. 38 8
5045961 1972
14206752 1964
Congenital factor VII deficiency with normal Stuart activity: clinical, genetic and experimental observations. 38 8
14412828 1960
[Congenital factor VII deficiency; family investigation and physiological studies on factor VII]. 38 8
13574693 1958
Two double heterozygous mutations in the F7 gene show different manifestations. 71
12472587 2002
Novel mutations in the Factor VII gene of Taiwanese Factor VII-deficient patients. 8
11260055 2001
A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene. 71
8364544 1993
Clotting factors VII and X as useful markers of terminal deletion of chromosome 13. 8
3855839 1985
Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). 8
6985471 1982
Genetic variants of factor VII. 8
4113214 1972
14062129 1964
Inherited factor-VII defect in a Negro family. 8
13706109 1961
The use of tissue thromboplastins of different origin is a fundamental tool in the initial characterization of FVII defects on "factor VII deficiency (Semin Thromb Hemost 2009;35(4):400-406)". 9 38
20391303 2010
Clinical audit of inherited bleeding disorders in a developing country. 9 38
20090222 2010
Asymptomatic factor VII deficiency: gene analysis and structure-function relationships. 9 38
20040857 2010
The clinical and laboratory significance of cases of congenital FX deficiency due to defects in the Gla-domain. 9 38
19490765 2009
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent. 9 38
18803553 2009
Frequencies of mild factor V, VII and X deficiencies in a Japanese population. 9 38
18685445 2008
Liver after hepatocyte transplantation for liver-based metabolic disorders in children. 9 38
19364077 2008

Variations for Factor Vii Deficiency

ClinVar genetic disease variations for Factor Vii Deficiency:

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 F7 F7, CYS178TYR single nucleotide variant Pathogenic
2 F7 F7, ARG247HIS single nucleotide variant Pathogenic
3 F7 F7, CYS310PHE single nucleotide variant Pathogenic
4 F7 NM_000131.4(F7): c.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs387906507 13:113760193-113760193 13:113105879-113105879
5 F7 NM_000131.4(F7): c.1061C> T (p.Ala354Val) single nucleotide variant Pathogenic rs36209567 13:113772982-113772982 13:113118668-113118668
6 F7 NM_000131.4(F7): c.849_865del (p.Arg284fs) deletion Pathogenic rs786205091 13:113772770-113772786 13:113118456-113118472
7 F7 F7, 1-BP DEL, 11128C deletion Pathogenic
8 F7 F7, -61T-G single nucleotide variant Pathogenic
9 F7 F7, -94C-G single nucleotide variant Pathogenic
10 F7 F7, -55C-T single nucleotide variant Pathogenic
11 F7 F7, CYS61TER undetermined variant Pathogenic
12 F7 NM_000131.4(F7): c.1165T> G (p.Cys389Gly) single nucleotide variant Pathogenic rs121964934 13:113773086-113773086 13:113118772-113118772
13 F7 NM_000131.4(F7): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs267606790 13:113771136-113771136 13:113116822-113116822
14 F7 NM_000131.4(F7): c.1224T> G (p.His408Gln) single nucleotide variant Pathogenic rs121964936 13:113773145-113773145 13:113118831-113118831
15 F7 F7, GLY354CYS undetermined variant Pathogenic
16 F7 NM_000131.4(F7): c.983T> C (p.Phe328Ser) single nucleotide variant Pathogenic rs387906508 13:113772904-113772904 13:113118590-113118590
17 F7 NM_000131.4(F7): c.479A> G (p.Gln160Arg) single nucleotide variant Pathogenic 13:113770022-113770022 13:113115708-113115708
18 F7 F7, GLU25LYS undetermined variant Pathogenic
19 F7 F7, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
20 F7 F7, ASN57ASP single nucleotide variant Pathogenic
21 F7 F7, ALA244VAL single nucleotide variant Pathogenic
22 F7 F7, THR359MET undetermined variant Pathogenic
23 F7 NM_000131.4(F7): c.1091G> A (p.Arg364Gln) single nucleotide variant Pathogenic rs121964926 13:113773012-113773012 13:113118698-113118698
24 F7 NM_000131.4(F7): c.1109G> T (p.Cys370Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121964927 13:113773030-113773030 13:113118716-113118716
25 F7 NM_000131.4(F7): c.805+3_805+6delGGGT deletion Likely pathogenic 13:113771907-113771911 13:113117599-113117602
26 F7 NM_000131.4(F7): c.1285G> A (p.Ala429Thr) single nucleotide variant Likely pathogenic rs755377592 13:113773206-113773206 13:113118892-113118892
27 F7 NM_000131.4(F7): c.*1475G> A single nucleotide variant Uncertain significance rs3093258 13:113774797-113774797 13:113120483-113120483
28 F7 NM_000131.4(F7): c.*1500_*1503del deletion Uncertain significance rs539395699 13:113774822-113774825 13:113120508-113120511
29 F7 NM_000131.4(F7): c.*1077del deletion Uncertain significance rs886050000 13:113774399-113774399 13:113120085-113120085
30 F7 NM_000131.4(F7): c.*756_*770delinsCCA indel Uncertain significance rs886049997 13:113774078-113774092 13:113119764-113119778
31 F7 NM_000131.4(F7): c.*703_*704AC[3] short repeat Uncertain significance rs3093252 13:113774031-113774034 13:113119717-113119720
32 F7 NM_000131.4(F7): c.*1057C> T single nucleotide variant Uncertain significance rs141219406 13:113774379-113774379 13:113120065-113120065
33 F7 NM_000131.4(F7): c.*991G> A single nucleotide variant Uncertain significance rs3093254 13:113774313-113774313 13:113119999-113119999
34 F7 NM_000131.4(F7): c.169C> A (p.Arg57=) single nucleotide variant Uncertain significance rs886049987 13:113765042-113765042 13:113110728-113110728
35 F7 NM_000131.4(F7): c.*846_*850CTTCA[1] short repeat Uncertain significance rs886049998 13:113774173-113774177 13:113119859-113119863
36 F7 NM_000131.4(F7): c.*672_*673CA[3] short repeat Uncertain significance rs886049995 13:113774000-113774001 13:113119686-113119687
37 F7 NM_000131.4(F7): c.*561_*562AT[1] short repeat Uncertain significance rs886049992 13:113773885-113773886 13:113119571-113119572
38 F7 NM_000131.4(F7): c.*425C> T single nucleotide variant Uncertain significance rs886049990 13:113773747-113773747 13:113119433-113119433
39 F7 NM_000131.4(F7): c.*410C> T single nucleotide variant Uncertain significance rs139474305 13:113773732-113773732 13:113119418-113119418
40 F7 NM_000131.4(F7): c.*71T> A single nucleotide variant Uncertain significance rs143748941 13:113773393-113773393 13:113119079-113119079
41 F7 NM_000131.4(F7): c.1003T> C (p.Phe335Leu) single nucleotide variant Uncertain significance rs762858015 13:113772924-113772924 13:113118610-113118610
42 F7 NM_000131.4(F7): c.682-11C> A single nucleotide variant Uncertain significance rs750680622 13:113771776-113771776 13:113117462-113117462
43 F7 NM_000131.4(F7): c.130+11A> T single nucleotide variant Uncertain significance rs886049986 13:113761235-113761235 13:113106921-113106921
44 F7 NM_000131.4(F7): c.*582C> T single nucleotide variant Uncertain significance rs886049993 13:113773904-113773904 13:113119590-113119590
45 F7 NM_000131.4(F7): c.*543A> G single nucleotide variant Uncertain significance rs886049991 13:113773865-113773865 13:113119551-113119551
46 F7 NM_000131.4(F7): c.*499G> A single nucleotide variant Uncertain significance rs575689457 13:113773821-113773821 13:113119507-113119507
47 F7 NM_000131.4(F7): c.*294A> C single nucleotide variant Uncertain significance rs886049989 13:113773616-113773616 13:113119302-113119302
48 F7 NM_000131.4(F7): c.*285G> A single nucleotide variant Uncertain significance rs577927838 13:113773607-113773607 13:113119293-113119293
49 F7 NM_000131.4(F7): c.1054G> A (p.Ala352Thr) single nucleotide variant Uncertain significance rs3093267 13:113772975-113772975 13:113118661-113118661
50 F7 NM_000131.4(F7): c.-27C> T single nucleotide variant Uncertain significance rs886049985 13:113760129-113760129 13:113105815-113105815

UniProtKB/Swiss-Prot genetic disease variations for Factor Vii Deficiency:

74 (show top 50) (show all 108)
# Symbol AA change Variation ID SNP ID
1 F7 p.Arg139Lys VAR_006497
2 F7 p.Arg139Gln VAR_006498 rs150525536
3 F7 p.Arg139Trp VAR_006499 rs776796178
4 F7 p.Gly157Ser VAR_006500 rs763458490
5 F7 p.Gly157Cys VAR_006501
6 F7 p.Gln160Arg VAR_006502 rs200016360
7 F7 p.Pro194Thr VAR_006503 rs123475902
8 F7 p.Lys197Glu VAR_006504 rs125020426
9 F7 p.Arg212Gln VAR_006505 rs868044209
10 F7 p.Cys238Tyr VAR_006506 rs121964928
11 F7 p.Arg283Trp VAR_006507 rs779589651
12 F7 p.Ala304Val VAR_006508 rs121964931
13 F7 p.Arg307His VAR_006509 rs121964929
14 F7 p.Glu325Lys VAR_006510 rs749760143
15 F7 p.Ala354Val VAR_006511 rs36209567
16 F7 p.Met358Ile VAR_006512 rs149283257
17 F7 p.Met358Val VAR_006513 rs928183869
18 F7 p.Arg364Gln VAR_006514 rs121964926
19 F7 p.Cys370Phe VAR_006515 rs121964927
20 F7 p.Gly402Arg VAR_006516
21 F7 p.Gly402Glu VAR_006517
22 F7 p.Thr419Met VAR_006519 rs121964930
23 F7 p.Leu13Pro VAR_014391 rs387906507
24 F7 p.Cys389Gly VAR_014392 rs121964934
25 F7 p.Leu73Gln VAR_014405 rs45572939
26 F7 p.Glu79Gln VAR_014406
27 F7 p.Cys121Phe VAR_014407
28 F7 p.Leu125Pro VAR_014408
29 F7 p.Tyr128Cys VAR_014409
30 F7 p.Cys151Ser VAR_014410
31 F7 p.Gly157Val VAR_014411 rs771335282
32 F7 p.Cys195Arg VAR_014412 rs372577568
33 F7 p.Thr241Asn VAR_014413 rs116014617
34 F7 p.Asp302His VAR_014414
35 F7 p.Asp302Asn VAR_014415 rs770328850
36 F7 p.Ala304Thr VAR_014416 rs773627551
37 F7 p.Arg307Cys VAR_014417 rs147680958
38 F7 p.Thr332Met VAR_014418 rs200212201
39 F7 p.Gly391Ser VAR_014419 rs190485816
40 F7 p.Gly435Glu VAR_014420 rs756956471
41 F7 p.Phe64Leu VAR_015135
42 F7 p.Ser120Pro VAR_015136
43 F7 p.Glu154Lys VAR_015137 rs146795869
44 F7 p.Gly216Asp VAR_015138 rs143850383
45 F7 p.Cys254Tyr VAR_015139
46 F7 p.Ala266Thr VAR_015140 rs764807079
47 F7 p.Val312Met VAR_015141 rs201991361
48 F7 p.Val341Phe VAR_015142
49 F7 p.Pro363Arg VAR_015143 rs963430078
50 F7 p.Asp403His VAR_015144

Expression for Factor Vii Deficiency

Search GEO for disease gene expression data for Factor Vii Deficiency.

Pathways for Factor Vii Deficiency

Pathways related to Factor Vii Deficiency according to KEGG:

# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Factor Vii Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
12.94 F9 F8 F7 F3 F2 F10
Show member pathways
12.46 F9 F8 F7 F3 F2 F10
Show member pathways
11.7 F9 F7 F2 F10
Show member pathways
11.63 F9 F8 F7 F3 F2 F10
5 11.24 F9 F8 F7 F3 F2 F10
6 11.05 HNF4A F2
7 10.63 F9 F7 F2 F10

GO Terms for Factor Vii Deficiency

Cellular components related to Factor Vii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 F9 F8 F7 F3 F2 F10
2 extracellular space GO:0005615 9.8 F9 F8 F7 F3 F2 F10
3 platelet alpha granule lumen GO:0031093 9.4 F8 EGF
4 intrinsic component of external side of plasma membrane GO:0031233 9.32 F3 F10
5 Golgi lumen GO:0005796 9.26 F9 F7 F2 F10
6 serine-type peptidase complex GO:1905286 9.16 F7 F3
7 endoplasmic reticulum lumen GO:0005788 9.02 F9 F8 F7 F2 F10

Biological processes related to Factor Vii Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.8 F9 F7 F2 F10
2 positive regulation of cell migration GO:0030335 9.71 F7 F3 F10 EGF
3 positive regulation of protein kinase B signaling GO:0051897 9.67 F7 F3 F10 EGF
4 ER to Golgi vesicle-mediated transport GO:0006888 9.65 F9 F8 F7 F2 F10
5 protein processing GO:0016485 9.52 F7 F3
6 acute-phase response GO:0006953 9.51 F8 F2
7 blood coagulation, intrinsic pathway GO:0007597 9.5 F9 F8 F2
8 blood coagulation GO:0007596 9.5 HNF4A F9 F8 F7 F3 F2
9 positive regulation of blood coagulation GO:0030194 9.48 F7 F2
10 positive regulation of positive chemotaxis GO:0050927 9.46 F7 F3
11 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.43 F7 F3
12 blood coagulation, extrinsic pathway GO:0007598 9.33 F7 F3 F10
13 hemostasis GO:0007599 9.1 F9 F8 F7 F3 F2 F10

Molecular functions related to Factor Vii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.97 HNF4A GFM1 F9 F8 F7 F3
2 peptidase activity GO:0008233 9.56 F9 F7 F2 F10
3 calcium ion binding GO:0005509 9.55 F9 F7 F2 F10 EGF
4 serine-type peptidase activity GO:0008236 9.26 F9 F7 F2 F10
5 serine-type endopeptidase activity GO:0004252 9.02 F9 F7 F3 F2 F10

Sources for Factor Vii Deficiency

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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