Hemophilia B disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HEMB MCID: HMP004 MIFTS: 70	Hemophilia B (HEMB) Categories: Blood diseases, Genetic diseases, Immune diseases, Muscle diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Hemophilia B

MalaCards integrated aliases for Hemophilia B:

Name: Hemophilia B ⁵⁷ ¹¹ ²⁴ ¹⁹ ⁵⁸ ⁷³ ²⁸ ¹² ⁵³ ⁵ ⁴³ ¹⁴ ³⁸ ⁷¹

Christmas Disease ⁵⁷ ²⁴ ¹⁹ ⁵⁸ ⁷⁵ ⁷³

Factor Ix Deficiency ⁵⁷ ¹¹ ²⁴ ¹⁹ ⁷³

F9 Deficiency ⁵⁷ ⁷³ ⁵

Plasma Thromboplastin Component Deficiency ⁵⁷ ⁷³

Congenital Factor Ix Deficiency ¹¹ ⁵⁸

Severe Hemophilia B ⁵⁸ ²⁸

Mild Hemophilia B ⁵⁸ ²⁸

Hemb ⁵⁷ ⁷³

Bleeding Disorder in Hemophilia B Carriers ⁵⁸

Moderate Congenital Factor Ix Deficiency ⁵⁸

Severe Congenital Factor Ix Deficiency ⁵⁸

Mild Congenital Factor Ix Deficiency ⁵⁸

Moderate Congenital F9 Deficiency ⁵⁸

Deficiency, Functional Factor Ix ¹¹

Severe Congenital F9 Deficiency ⁵⁸

Recessive X-Linked Hemophilia B ⁷³

Congenital Factor Ix Disorder ¹¹

Mild Congenital F9 Deficiency ⁵⁸

Congenital F9 Deficiency ⁵⁸

Moderate Hemophilia B ⁵⁸

Hem B ¹⁹

Characteristics:

Inheritance:

Hemophilia B: X-linked recessive ⁵⁸ ⁵⁷

Mild Hemophilia B: X-linked recessive ⁵⁸

Moderate Hemophilia B: X-linked recessive ⁵⁸

Severe Hemophilia B: X-linked recessive ⁵⁸

Bleeding Disorder in Hemophilia B Carriers: X-linked recessive ⁵⁸

Prevelance:

1-9/100000 (Europe, Albania, Belgium, Belize, Croatia, Cyprus, Czech Republic, Denmark, Finland, Greece, Hungary, Italy, Macedonia, the former Yugoslav Republic of, Netherlands, New Zealand, Norway, Qatar, Slovakia, Sweden, Switzerland, United Kingdom, Venezuela, Worldwide, France) 1-9/1000000 (Algeria, Argentina, Armenia, Austria, Azerbaijan, Belarus, Bosnia and Herzegovina, Brazil, Bulgaria, Chile, Colombia, Costa rica, Cuba, Dominican Republic, Ecuador, Egypt, El Salvador, Estonia, Georgia, Germany, Honduras, Iceland, Iran, Islamic Republic of, Iraq, Korea, Republic of, Latvia, Lithuania, Luxembourg, Malaysia, Malta, Mexico, Moldova, Republic of, Mongolia, Morocco, Pakistan, Palestinian Territory, occupied, Peru, Philippines, Poland, Portugal, Russian Federation, Saudi Arabia, Serbia, Singapore, Israel, Jamaica, Jordan, Kenya, Lebanon, Nicaragua, Panama, Paraguay, Romania, Slovenia, South Africa, Spain, Sudan, Tunisia, Turkey, Uruguay, Uzbekistan, Viet Nam, Zimbabwe) <1/1000000 (Bangladesh, Bolivia, Eritrea, Guatemala, India, Indonesia, Nepal, Nigeria, Senegal, Sierra leone, Sri Lanka, Thailand, Togo, Ukraine) ⁵⁸

Age Of Onset:

Hemophilia B: Childhood,Infancy,Neonatal ⁵⁸

Mild Hemophilia B: Infancy,Neonatal ⁵⁸

Moderate Hemophilia B: Infancy,Neonatal ⁵⁸

Severe Hemophilia B: Infancy,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
patient with factor ix leyden variants have bleeding in childhood that improves or resolves after puberty
patients with hemophilia b(m) variants also have prolonged pt
phenotypically indistinguishable from hemophilia a

GeneReviews:

²⁴

Penetrance All males with an f9 pathogenic variant are affected and will have hemophilia b of approximately the same severity as all other affected males in the family; however, other genetic and environmental effects may modify the clinical severity to some extent....

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Hereditary factor IX deficiency

Orphanet: ⁵⁸

Rare haematological diseases

External Ids:

Disease Ontology ¹¹ DOID:12259

OMIM® ⁵⁷ 306900

ICD9CM ³⁴ 286.1

MeSH ⁴³ D002836

NCIt ⁴⁹ C26721

SNOMED-CT ⁶⁸ 41788008

ICD10 ³¹ D67

MESH via Orphanet ⁴⁴ D002836

ICD10 via Orphanet ³² D67

UMLS via Orphanet ⁷² C0008533

Orphanet ⁵⁸ ORPHA169793 ORPHA169796 ORPHA169799 more

MedGen ⁴⁰ C0008533 CN043453 CN043454

SNOMED-CT via HPO ⁶⁹ 1386000 206200000 225655006 more

UMLS ⁷¹ C0008533

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Summaries for Hemophilia B

OMIM®: ⁵⁷ Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (306700), which results from deficiency of coagulation factor VIII (F8; 300841). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) (Lefkowitz et al., 1993). Early studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. Roberts et al. (1968) found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, Bertina and Veltkamp (1978) found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM+. They identified 14 cases of hemophilia B CRM+ from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. Bertina and Veltkamp (1978) noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known. (306900) (Updated 08-Dec-2022)

MalaCards based summary: Hemophilia B, also known as christmas disease, is related to hemophilia and hemophilia b leyden. An important gene associated with Hemophilia B is F9 (Coagulation Factor IX), and among its related pathways/superpathways are Metabolism of proteins and Disease. The drugs Anti-inhibitor coagulant complex and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include brain, whole blood and liver, and related phenotypes are hematuria and intracranial hemorrhage

Orphanet ⁵⁸ Hemophilia b: A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.

Severe hemophilia b: A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.

Moderate hemophilia b: A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.

Mild hemophilia b: A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations.

Bleeding disorder in hemophilia b carriers: A rare bleeding disorder in association with carrier mutations in the F9 gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.

GARD: ¹⁹ Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of Hemophilia B, known as Hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by genetic changes in the F9 gene.

UniProtKB/Swiss-Prot: ⁷³ An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma.

Disease Ontology: ¹¹ A blood coagulation disease that has material basis in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.

Wikipedia: ⁷⁵ Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and... more...

GeneReviews: NBK1495

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Related Diseases for Hemophilia B

Diseases in the Hemophilia family:

Hemophilia a	Hemophilia B
Acquired Hemophilia	Acquired Hemophilia a
Acquired Hemophilia B

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

(show top 50) (show all 387)

#	Related Disease	Score	Top Affiliating Genes
1	hemophilia	33.1	F9 F8 F2 F10
2	hemophilia b leyden	32.9	HNF4A F9
3	hemophilia a	31.4	F9 F8 F7 F3 F2 F10
4	factor viii deficiency	31.1	SERPINC1 F9 F8 F7 F3 F2
5	nephrotic syndrome	30.8	SERPINC1 FGA F9 F3 F2
6	vitamin k deficiency bleeding	30.7	SERPINC1 GGCX F9 F8 F7 F3
7	hemarthrosis	30.4	SERPINC1 F9 F8 F7 F3 F2
8	heart septal defect	30.4	SERPINC1 F3 F2
9	sickle cell anemia	30.4	SERPINC1 F3 F2
10	compartment syndrome	30.3	SERPINC1 F9 F8 F7 F3 F2
11	prothrombin deficiency, congenital	30.3	SERPINC1 F2 F10
12	von willebrand's disease	30.3	SERPINC1 GP1BA F9 F8 F7 F3
13	hemopericardium	30.3	F3 F2
14	factor vii deficiency	30.3	SERPINC1 HNF4A F9 F8 F7 F3
15	thrombasthenia	30.3	GP1BA F3 F2
16	central retinal vein occlusion	30.2	SERPINC1 F3 F2
17	retinal vein occlusion	30.2	SERPINC1 F3 F2
18	transient cerebral ischemia	30.2	SERPINC1 F3 F2
19	endocarditis	30.2	SERPINC1 PF4 GP1BA F2
20	qualitative platelet defect	30.1	GP1BA F7 F3 F2
21	factor xi deficiency	30.1	SERPINC1 F9 F8 F7 F3 F2
22	thrombophilia due to thrombin defect	30.1	SERPINC1 PF4 FGA F9 F8 F3
23	hemorrhagic disease	30.0	SERPINC1 PF4 GP1BA F9 F8 F7
24	hemorrhoid	30.0	F3 F2
25	atrial fibrillation	30.0	PF4 F9 F3 F2 F10
26	lipoprotein quantitative trait locus	30.0	SERPINC1 PF4 FGA F7 F3 F2
27	factor xii deficiency	30.0	SERPINC1 F9 F7 F3 F2 F11
28	vascular disease	29.9	SERPINC1 GP1BA F8 F3 F2
29	factor xiii deficiency	29.9	SERPINC1 F9 F8 F7 F3 F2
30	cardiovascular system disease	29.9	SERPINC1 PF4 FGA F8 F7 F3
31	deficiency anemia	29.8	SERPINC1 GP1BA F9 F7 F3 F2
32	factor x deficiency	29.8	SERPINC1 F9 F8 F7 F3 F2
33	blood platelet disease	29.7	SERPINC1 PF4 GP1BA F8 F7 F3
34	prothrombin deficiency	29.7	SERPINC1 GGCX F9 F8 F7 F3
35	disseminated intravascular coagulation	29.6	SERPINC1 FGA F9 F7 F3 F2
36	thrombophilia	29.6	SERPINC1 PF4 FGA F9 F8 F7
37	thrombosis	29.5	SERPINC1 PF4 GP1BA FGA F9 F8
38	thrombocytopenia	29.5	SERPINC1 PF4 GP1BA FGA F9 F8
39	myocardial infarction	29.3	SERPINC1 PF4 GP1BA FGA F9 F8
40	acquired hemophilia b	11.2
41	arthropathy	10.5
42	osteoarthritis	10.4
43	emphysematous cholecystitis	10.4	F3 F2
44	femoral neuropathy	10.4	F3 F2
45	blue toe syndrome	10.4	F3 F2
46	renal pelvis squamous cell carcinoma	10.4	F3 F2
47	subclavian steal syndrome	10.4	F3 F2
48	lateral sinus thrombosis	10.4	SERPINC1 F2
49	central nervous system origin vertigo	10.4	SERPINC1 F2
50	acalculous cholecystitis	10.4	F3 F2

Graphical network of the top 20 diseases related to Hemophilia B:

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Symptoms & Phenotypes for Hemophilia B

Human phenotypes related to Hemophilia B:

⁵⁸ ³⁰ (show all 19)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hematuria ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000790
2	intracranial hemorrhage ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002170
3	prolonged bleeding time ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003010
4	poor wound healing ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001058
5	menometrorrhagia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0400008
6	prolonged partial thromboplastin time ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003645
7	joint hemorrhage ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0005261
8	intramuscular hematoma ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0012233
9	prolonged bleeding after dental extraction ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0006298
10	prolonged bleeding after surgery ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004846
11	spontaneous, recurrent epistaxis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004406
12	reduced factor ix activity ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0011858
13	cephalohematoma ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0012541
14	delayed onset bleeding ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0040232
15	gastrointestinal hemorrhage ³⁰			HP:0002239
16	osteoarthritis ³⁰			HP:0002758
17	abnormal bleeding ³⁰			HP:0001892
18	persistent bleeding after trauma ³⁰			HP:0001934
19	prolonged whole-blood clotting time ³⁰			HP:0005542

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Laboratory Abnormalities:
platelet count normal
ptt prolonged
pt normal
platelet function normal
factor ix deficiency

Hematology:
factor ix deficiency

Clinical features from OMIM®:

306900 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Hemophilia B according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.18	CKM CPB2 DBP F10 F11 F2
2	no effect	GR00402-S-2	10.18	CKM CPB2 DBP F10 F2 F3

MGI Mouse Phenotypes related to Hemophilia B:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.32	CKM CPB2 DBP F10 F11 F2
2	growth/size/body region	MP:0005378	10.13	CKM CPB2 F10 F11 F2 F3
3	liver/biliary system	MP:0005370	10.06	DBP F11 F9 FGA FURIN HNF4A
4	cardiovascular system	MP:0005385	10.03	CKM DBP F10 F11 F2 F3
5	cellular	MP:0005384	10	CKM F11 F2 F3 FGA FURIN
6	hematopoietic system	MP:0005397	9.73	F11 F2 F3 F8 F9 FGA
7	mortality/aging	MP:0010768	9.5	CPB2 DBP F10 F11 F2 F3

Sources

Drugs & Therapeutics for Hemophilia B

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

(show all 44)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Anti-inhibitor coagulant complex

Approved, Investigational

Phase 4

Ropivacaine

Approved

Phase 4

84057-95-4

71273 175805

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Hyaluronic acid

Approved, Vet_approved

Phase 4

9004-61-9

53477741

Factor VIII

Phase 4

Pharmaceutical Solutions

Phase 4

Coagulants

Phase 4

Triamcinolone hexacetonide

Phase 4

Triamcinolone diacetate

Phase 4

Triamcinolone Acetonide

Phase 4

6436

Hylan

Phase 4

Phylloquinone

Approved, Investigational

Phase 3

84-80-0

5284607

Menadione

Approved, Nutraceutical

Phase 3

58-27-5

4055

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 3

22737-96-8, 68-26-8

5280382 445354

Menaquinone

Investigational

Phase 3

1182-68-9

Immunoglobulins

Phase 3

Antibodies

Phase 3

Vitamins

Phase 3

Vitamin K

Phase 3

Naphthoquinone

Phase 3

Retinol palmitate

Phase 3

Thromboplastin

Phase 3

Lipoprotein-associated coagulation inhibitor

Phase 3

Hemostatics

Phase 3

Serine

Investigational, Nutraceutical

Phase 3

56-45-1

5951

Liver Extracts

Phase 1, Phase 2

Zinc cation

Approved, Experimental, Investigational

Phase 1

7440-66-6, 23713-49-7

32051

Histamine

Approved, Investigational

51-45-6

774

Thrombin

Approved, Investigational

Sodium citrate

Approved, Investigational

68-04-2

23431961

Cholecalciferol

Approved, Nutraceutical, Vet_approved

67-97-0, 1406-16-2

5280795 10883523

Citric acid

Approved, Nutraceutical, Vet_approved

77-92-9

311

Histamine phosphate

51-74-1

134614

Antibodies, Blocking

Trace Elements

Calciferol

Hormones

Calcium, Dietary

Micronutrients

Analgesics

Antidepressive Agents

Citrate

Chrysarobin

Calcium

Nutraceutical

7440-70-2

271

Interventional clinical trials:

(show top 50) (show all 220)

#	Name	Status	NCT ID	Phase	Drugs
1	The Effectiveness of Recombinant Fusion Protein Linking Coagulation Factor IX With Recombinant Albumin (rIX-FP) in Severe Hemophilia B Patients Switching From Previous Factor IX Treatment	Unknown status	NCT04108260	Phase 4	Albutrepenonacog Alfa 1 UNT [IDELVION]
2	A SINGLE COUNTRY, MULTICENTER, OPEN-LABEL AND NON-RANDOMIZED CLINICAL TRIAL WITH NONACOG ALFA PROPHYLAXIS AND TREATMENT OF BLEEDING EPISODES IN PREVIOUSLY TREATED PATIENTS WITH MODERATELY-SEVERE TO SEVERE HEMOPHILIA B FOR A DURATION OF 8 WEEKS.	Completed	NCT04286412	Phase 4
3	An Open-label, Single-arm, Post-authorization Pragmatic Clinical Trial On The Safety And Efficacy Of Benefix (Nonacog Alfa, Recombinant Factor Ix) In Subjects With Hemophilia B In Usual Care Settings In China	Completed	NCT02336178	Phase 4	Benefix
4	Phase IV Multi-Center, Prospective, Interventional, Post-Marketing Study in Hemophilia B Patients in India Receiving RIXUBIS as On-demand or Prophylaxis Under Standard Clinical Practice	Completed	NCT03565237	Phase 4
5	Evaluation of Efficacy and Safety of Benefix®- Coagulation Factor ix, Recombinant, in Previously Treated Patients With Hemophilia b.	Completed	NCT00581126	Phase 4	Recombinant Factor IX Coagulation
6	IMMUNINE - Purified Factor IX Concentrate Virus-Inactivated: A Phase 4, Prospective, Open-label Multicenter Study to Prospectively Document the Exposure of IMMUNINE and to Monitor FIX Inhibitors in Previously Treated Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level <= 2%) Hemophilia B Who Are Planned to Enter BAX 326 Study 250901 to Investigate a New Recombinant FIX Concentrate	Completed	NCT01128881	Phase 4
7	Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX	Completed	NCT00749476	Phase 4
8	Post Marketing Study in Haemophilia B Patients Using Nonafact® 100 IU/ml Powder and Solvent for Solution for Injection(Human Coagulation Factor IX)(Human Plasma Derived Factor IX Product, Freeze Dried)	Completed	NCT00139828	Phase 4	human coagulation Factor IX
9	Viscosupplementation in Patients With Hemophilic Arthropathy	Completed	NCT01748201	Phase 4
10	Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy	Completed	NCT00638001	Phase 4
11	NovoSeven® (rFVIIa) by Single Dose for Home Treatment of Joint Bleeds in Haemophilia Patients With Inhibitors: A Pilot, Double-Blind Study Versus Standard Multiple Doses of NovoSeven® and Open-Label FEIBA®	Completed	NCT00108797	Phase 4	eptacog alfa (activated);Feiba VH
12	rFVIIa (NovoSeven®) for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors: A Double-blind Study of a Single High Dose Versus Standard Multiple Doses of rFVIIa	Completed	NCT00571584	Phase 4	activated recombinant human factor VII
13	An Open-Label, Randomized, Parallel, Multicenter Trial Comparing the Safety and Efficacy of rFVIIa When Administered as i.v. Bolus or i.v. Continuous Infusion to Hemophiliacs With Inhibitors During and After Major Surgery	Completed	NCT01561391	Phase 4	activated recombinant human factor VII;factor VIII
14	Safety of SEVENFACT® for the Treatment of Bleeding Events in Patients With Hemophilia A or B With Inhibitors	Recruiting	NCT04647227	Phase 4	coagulation factor VIIa [recombinant]-jncw
15	An Evaluation Of The Safety And Efficacy Of On-Demand Treatment With BeneFIX (Nonacog Alfa, Recombinant Factor IX) In Chinese Subjects With Hemophilia B	Completed	NCT00866606	Phase 3
16	Evaluation of a Recombinant Factor IX Product, APVO101, in Previously-Treated Pediatric Patients With Hemophilia B	Completed	NCT03855280	Phase 3	APVO101
17	Phase I/II/III Pharmacokinetic and Outcome Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B	Completed	NCT00768287	Phase 2, Phase 3
18	A Phase 3b Open-label, Multicenter, Safety and Efficacy Extension Study of a Recombinant Coagulation Factor IX Albumin Fusion Protein (rIX-FP) in Subjects With Hemophilia B	Completed	NCT02053792	Phase 3
19	A Double-Blind, Randomized, Crossover Evaluation of the Pharmacokinetics of Recombinant Human Factor IX (BeneFIX) and a New Formulation of BeneFIX (rFIX-R); and an Open-Label Safety and Efficacy Evaluation of rFIX-R in Previously Treated Patients With Moderate to Severe (FIX:C≤2%) Hemophilia B	Completed	NCT00093210	Phase 3	rFIX;rFIX-R
20	An Open-label Safety and Efficacy Study of Recombinant Human Factor IX (rFIX; BeneFIX®) in Previously Treated Patients (PTPs) With Hemophilia B (FIX:C ≤2%)	Completed	NCT00093171	Phase 3	rFIX
21	An Open-Label, Single-Arm, Safety and Efficacy Study of Recombinant Human Factor IX (rFIX; BeneFIX®) in Children Less Than 6 Years of Age With Severe Hemophilia B	Completed	NCT00037557	Phase 3	BeneFIX
22	B-LONG: An Open-Label, Multicenter Evaluation of the Safety, Pharmacokinetics, and Efficacy of Recombinant, Long-acting Coagulation Factor IX Fc Fusion Protein (rFIXFc) in the Prevention and Treatment of Bleeding in Previously Treated Subjects With Severe Hemophilia B	Completed	NCT01027364	Phase 3	Factor IX (rFIXFc);rFIX
23	A Multicenter, Open-Label Study To Compare On-Demand Treatment With 2 Prophylaxis Regimens of Recombinant Coagulation Factor IX (BeneFIX) Reformulated Drug Product (rFIX-R) In Subjects With Severe Hemophilia B	Completed	NCT00364182	Phase 3	Recombinant Coagulation Factor IX (BeneFIX)
24	A Phase III Open-label, Multicenter, Pharmacokinetic, Safety and Efficacy Study of a Recombinant Fusion Protein Linking Coagulation Factor IX With Albumin (rIX-FP) in Previously Treated Children With Hemophilia B	Completed	NCT01662531	Phase 3
25	A Phase II/III Open-label, Multicenter, Safety and Efficacy Study of a Recombinant Coagulation Factor IX Albumin Fusion Protein (rIX-FP) in Subjects With Hemophilia B	Completed	NCT01496274	Phase 2, Phase 3
26	BAX 326 (Recombinant Factor IX): A Phase 3 Prospective, Multicenter Study Evaluating Efficacy and Safety in Previously Treated Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level 1-2%) Hemophilia B Undergoing Surgical or Other Invasive Procedures	Completed	NCT01507896	Phase 3
27	An Open-label, Multicenter Evaluation of Safety, Pharmacokinetics and Efficacy of Recombinant Coagulation Factor IX Fc Fusion Protein, BIIB029, in the Prevention and Treatment of Bleeding Episodes in Pediatric Subjects With Hemophilia B	Completed	NCT01440946	Phase 3	rFIXFc;FIX
28	An Open-Label, Multicenter, Evaluation of the Long-Term Safety and Efficacy of Recombinant Human Coagulation Factor IX Fusion Protein (rFIXFc) in the Prevention and Treatment of Bleeding Episodes in Previously Treated Subjects With Hemophilia B	Completed	NCT01425723	Phase 3
29	A Multicenter, Open-label Study To Compare On-demand Treatment To A Prophylaxis Regimen Of Nonacog-alfa (Benefix) In Subjects With Moderately Severe To Severe Hemophilia B (Fix:c</=2%)	Completed	NCT01335061	Phase 3
30	BAX 326 (Recombinant Factor IX): Evaluation of Safety, Immunogenicity, and Hemostatic Efficacy in Previously Treated Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level <= 2%) Hemophilia B - A Continuation Study	Completed	NCT01286779	Phase 3
31	An Open-Label, Multicenter Evaluation of the Safety and Efficacy of Recombinant Coagulation Factor IX Fc Fusion Protein (rFIXFc; BIIB029) in the Prevention and Treatment of Bleeding in Previously Untreated Patients With Severe Hemophilia B	Completed	NCT02234310	Phase 3
32	BAX 326 (Recombinant Factor IX): A Phase 2/3 Prospective, Uncontrolled, Multicenter Study Evaluating Pharmacokinetics, Efficacy, Safety, and Immunogenicity in Previously Treated Pediatric Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level 1-2%) Hemophilia B	Completed	NCT01488994	Phase 2, Phase 3
33	Recombinant Factor IX (BAX 326): A Phase 1/3, Prospective, Controlled, Multicenter Study Evaluating Pharmacokinetics, Efficacy, Safety and Immunogenicity in Previously Treated Patients With Severe or Moderately Severe Hemophilia B	Completed	NCT01174446	Phase 3
34	A Phase III Study on the Safety, Pharmacokinetics and Efficacy of Coagulation Factor VIIa (Recombinant) in Congenital Hemophilia A or B Patients With Inhibitors to Factor VIII or IX	Completed	NCT02020369	Phase 3
35	FEIBA NF: A Prospective, Open-label, Randomized, Parallel Study to Evaluate the Efficacy and Safety of Prophylactic Versus On-Demand Treatment in Subjects With Hemophilia A or B and a High Titer Inhibitor	Completed	NCT00851721	Phase 3
36	A Phase III Study on the Safety, Pharmacokinetics, and Efficacy of Coagulation Factor VIIa (Recombinant) in Congenital Hemophilia A or B Pediatric Patients From Birth to <12 Years Old With Inhibitors to Factor VIII or IX: PerSept 2	Completed	NCT02448680	Phase 3
37	A Phase 2/3, Multicenter, Open-label Clinical Study to Assess the Safety and Efficacy of BAY86-6150 in Subjects With Hemophilia A or B With Inhibitors, Composed of 2 Parts (A & B). Part A: Sequential Cohorts of Four Dose Levels of the Modified rFVIIa BAY86-6150 Assessed in a Non-controlled Dose Response Design in Acutely Bleeding Subjects and for PK/ PD in an Intra-individual Crossover Design Compared With One Fixed Dose of Eptacog Alfa in Non-bleeding Subjects. Part B: Confirmatory Study to Further Investigate the Efficacy and Safety of BAY86-6150	Completed	NCT01625390	Phase 2, Phase 3	BAY86-6150;eptacog alfa [activated]
38	ATLAS-A/B: A Phase 3 Study to Evaluate the Efficacy and Safety of Fitusiran in Patients With Hemophilia A or B, Without Inhibitory Antibodies to Factor VIII or IX	Completed	NCT03417245	Phase 3	fitusiran;factor concentrates
39	ATLAS-INH: A Phase 3 Study to Evaluate the Efficacy and Safety of Fitusiran in Patients With Hemophilia A or B, With Inhibitory Antibodies to Factor VIII or IX	Completed	NCT03417102	Phase 3	fitusiran;Bypassing agents
40	A PHASE 3, PROSPECTIVE, OPEN-LABEL, RANDOMIZED STUDY TO EVALUATE SAFETY AND EFFICACY OF RECOMBINANT ACTIVATED FVII BI (rFVIIa BI) IN THE TREATMENT OF ACUTE BLEEDING EPISODES PER AN ON-DEMAND REGIMEN IN PATIENTS WITH HEMOPHILIA A OR B WITH INHIBITORS	Completed	NCT01757405	Phase 3
41	An Open Study to Investigate the Safety and Efficacy of Replenine®-VF by Continuous Infusion in Haemophilia B Patients Undergoing Major Surgery.	Completed	NCT02250560	Phase 3
42	An Open Study to Compare the Pharmacokinetics and Safety of Replenine®-VF and Replenine® or Any Other High Purity Factor IX Concentrate, in Severe Haemophilia B Patients.	Completed	NCT02263456	Phase 3
43	An Open-study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Subjects Undergoing Surgery.	Completed	NCT02250573	Phase 3
44	An Open Multi-centre Phase III Study to Investigate the Safety and Efficacy of Replenine®-VF in Severe Haemophilia B Patients Under the Age of 6 Years	Completed	NCT02263469	Phase 3
45	An Open-label Single-arm Multicentre Non-controlled Phase 3 a Trial Investigating Safety and Efficacy of Nonacog Beta Pegol (N9-GP) in Prophylaxis and Treatment of Bleeding Episodes in Previously Untreated Patients With Haemophilia B (FIX Activity Below or Equal to 2 Percent)	Completed	NCT02141074	Phase 3	nonacog beta pegol
46	An Open-label, Multi-centre, Un-controlled Trial to Assess Efficacy and Safety of NNC-0156-0000-0009 During Surgical Procedures in Patients With Haemophilia B	Completed	NCT01386528	Phase 3	nonacog beta pegol
47	A Multi-centre, Single-blind Trial Evaluating Safety and Efficacy, Including Pharmacokinetics, of NNC-0156-0000-0009 When Used for Treatment and Prophylaxis of Bleeding Episodes in Patients With Haemophilia B	Completed	NCT01333111	Phase 3	nonacog beta pegol
48	Efficacy and Safety of NNC 0078-0000-0007 in Treatment of Acute Bleeding Episodes in Patients With Congenital Haemophilia and Inhibitors	Completed	NCT01392547	Phase 3	vatreptacog alfa (activated);eptacog alfa (activated)
49	An Open Study to Investigate the Safety and Efficacy of Replenine®-VF in Severe Haemophilia B Patients.	Completed	NCT02231944	Phase 3
50	Safety and Efficacy of NNC-0156-0000-0009 After Long-Term Exposure in Patients With Haemophilia B	Completed	NCT01395810	Phase 3	nonacog beta pegol

Search NIH Clinical Center for Hemophilia B

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

nonacog alfa

recombinant FVIIa

Cochrane evidence based reviews: hemophilia b

Sources

Genetic Tests for Hemophilia B

Genetic tests related to Hemophilia B:

#	Genetic test	Affiliating Genes
1	Hemophilia B(m) ²⁸
2	Severe Hemophilia B ²⁸
3	Mild Hemophilia B ²⁸

Sources

Anatomical Context for Hemophilia B

Organs/tissues related to Hemophilia B:

MalaCards : Brain, Whole Blood, Liver, Bone, Skeletal Muscle, T Cells, Bone Marrow

Sources

Publications for Hemophilia B

Articles related to Hemophilia B:

(show top 50) (show all 2472)

#	Title	Authors	PMID	Year
1	Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency. ⁵³ ⁶² ⁵⁷ ⁵	Cutler JA...Savidge GF	15266608	2004
2	Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age. ²⁴ ⁵⁷ ⁵	Ketterling RP...Sommer SS	10647899	1999
3	Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). ⁵³ ⁶² ⁵⁷ ⁵	Taylor SA...Lillicrap DP	1986380	1991
4	Genotype analysis identifies the cause of the "royal disease". ⁶² ⁵⁷ ⁵	Rogaev EI...Moliaka YK	19815722	2009
5	Somatic mosaicism and compound heterozygosity in female hemophilia B. ⁶² ⁵⁷ ⁵	Costa JM...Lavergne JM	10942410	2000
6	The human factor IX gene as germline mutagen test: samples from Mainland China have the putatively endogenous pattern of mutation. ⁶² ⁵⁷ ⁵	Liu JZ...Sommer SS	10874302	2000
7	Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome. ⁶² ⁵⁷ ⁵	Chan V...Chan TK	9590153	1998
8	The rates and patterns of deletions in the human factor IX gene. ⁶² ⁵⁷ ⁵	Ketterling RP...Sommer SS	8304338	1994
9	Comparison of the behavior of normal factor IX and the factor IX Bm variant Hilo in the prothrombin time test using tissue factors from bovine, human, and rabbit sources. ⁶² ⁵⁷ ⁵	Lefkowitz JB...Roberts HR	8352232	1993
10	Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling. ⁶² ⁵⁷ ⁵	Vidaud D...Lavergne JM	8478007	1993
11	Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians. ⁶² ⁵⁷ ⁵	Gostout B...Sommer SS	8499919	1993
12	Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. ⁶² ⁵⁷ ⁵	Ketterling RP...Sommer SS	8434583	1993
13	Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis. ⁶² ⁵⁷ ⁵	Taylor SA...Lillicrap DP	1615485	1992
14	T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. ⁶² ⁵⁷ ⁵	Ketterling RP...Sommer SS	1864609	1991
15	Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. ⁶² ⁵⁷ ⁵	Koeberl DD...Sommer SS	2198809	1990
16	Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs. ⁶² ⁵⁷ ⁵	Koeberl DD...Sommer SS	1969838	1990
17	A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel). ⁶² ⁵⁷ ⁵	Poort SR...Reitsma PH	2762170	1989
18	DNA analysis of seven patients with hemophilia B who have anti-factor IX antibodies: relationship to clinical manifestations and evidence that the abnormal gene was inherited. ⁶² ⁵⁷ ⁵	Tanimoto M...Kurachi K	3411192	1988
19	A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred. ⁶² ⁵⁷ ⁵	Taylor SA...White BN	2841226	1988
20	Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients. ⁶² ⁵⁷ ⁵	Matthews RJ...Bloom AL	3029178	1987
21	Hemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene. ⁶² ⁵⁷ ⁵	Hassan HJ...Peschle C	2992643	1985
22	Gene deletions in patients with haemophilia B and anti-factor IX antibodies. ⁶² ⁵⁷ ⁵	Giannelli F...Brownlee GG	6843667	1983
23	The abnormal factor IX of hemophilia B+ variants. ⁶² ⁵⁷ ⁵	Bertina RM...Veltkamp JJ	734633	1978
24	Hemophilia B: characterization of genetic variants and detection of carriers. ⁶² ⁵⁷ ⁵	Kasper CK...Rapaport SI	884315	1977
25	Christmas disease, color-blindness and blood group Xga. ⁶² ⁵⁷ ⁵	Wall RL...Marson A	5298508	1967
26	Haemophilia Bm: a new type of factor-IX deficiency. ⁶² ⁵⁷ ⁵	Hougie C...Twomey JJ	4163943	1967
27	Christmas disease: a condition previously mistaken for haemophilia. ⁶² ⁵⁷ ⁵	BIGGS R...MERSKEY	12997790	1952
28	Six characters in search of an author: the history of the nomenclature of coagulation factors. ⁵⁷ ⁵	Giangrande PL	12780784	2003
29	Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity. ⁵⁷ ⁵	Ljung R...Sjorin E	11328285	2001
30	Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. ⁵⁷ ⁵	Giannelli F...Brownlee GG	8594556	1996
31	Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX. ⁵⁷ ⁵	Green PM...Giannelli F	8318985	1993
32	Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. ⁵⁷ ⁵	Giannelli F...Yoshioka A	1598234	1992
33	Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity. ⁵⁷ ⁵	Green PM...Giannelli F	1873221	1991
34	Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD). ⁵⁷ ⁵	Montandon AJ...Giannelli F	2370049	1990
35	Molecular pathology of haemophilia B. ⁵⁷ ⁵	Green PM...Giannelli F	2743975	1989
36	Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies. ⁵⁷ ⁵	Wadelius C...Pettersson U	2848757	1988
37	Gene deletion in an Italian haemophilia B subject. ⁵⁷ ⁵	Bernardi F...Pitruzzello S	4045960	1985
38	Bleeding in carriers of hemophilia. ²⁴ ⁵⁷	Plug I...Rosendaal FR	16551972	2006
39	DNA variation in a 13-Mb region including the F9 gene: inferring the genealogical history and causal role of a hemophilia B mutation (IVS 5+13 A-->G). ⁵³ ⁶² ⁵	Anagnostopoulos T...Green PM	14675097	2003
40	AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. ⁵³ ⁶² ⁵⁷	Manno CS...Glader B	12515715	2003
41	Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B. ⁵³ ⁶² ⁵⁷	Krepischi-Santos AC...Vianna-Morgante AM	11380446	2001
42	Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor IX mediated by adeno-associated viral vector. ⁵³ ⁶² ⁵⁷	Herzog RW...High KA	9883840	1999
43	A Gly --> Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1. ⁵³ ⁶² ⁵	Whiteman P...Handford PA	9525872	1998
44	Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. ⁵³ ⁶² ⁵	Ludwig M...Bajaj SP	1346975	1992
45	Expression of human factor IX in rat capillary endothelial cells: toward somatic gene therapy for hemophilia B. ⁵³ ⁶² ⁵⁷	Yao SN...Kurachi K	1896457	1991
46	Expression of human factor IX in rabbit hepatocytes by retrovirus-mediated gene transfer: potential for gene therapy of hemophilia B. ⁵³ ⁶² ⁵⁷	Armentano D...Woo SL	2385589	1990
47	Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations. ⁶² ⁵	Huang L...Li Q	32875744	2020
48	Molecular characterization of hemophilia B patients in Colombia. ⁶² ⁵	Parrado Jara YA...Yunis Londono JJ	32155688	2020
49	The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation. ⁶² ⁵	Pignani S...Branchini A	29993188	2018
50	Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B. ⁶² ⁵	Khan MTM...Taj AS	28752769	2018

Sources

Genes for Hemophilia B

Genes/enhancers related to Hemophilia B (2 elite genes):

(show all 32)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	F9	Coagulation Factor IX	Protein Coding	1660.18	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Pathways & Interactions (show sections)	734633 884315 1346483 (more) 1346975 1357229 1579901 1598234 1615485 1615486 1680287 1864609 1873221 1897528 1902289 1958666 1968152 1969838 1972560 1986380 1998585 2066105 2087690 2093364 2111833 2198809 2220823 2320433 2339358 2355000 2370049 2372509 2438804 2472424 2494175 2563663 2714791 2738071 2741941 2743975 2752109 2753873 2757966 2762170 2773937 2775660 2821070 2831715 2841226 2846283 2848757 2873459 2875754 2886685 2929599 2992643 3009023 3029178 3181127 3243764 3262389 3392024 3401602 3411192 3461460 3790720 4033760 4045960 4163943 5298508 6603618 6843667 7101232 7482402 7873393 7937052 8055323 8091381 8178822 8199596 8217825 8257988 8304338 8314564 8318985 8320491 8352232 8365725 8412791 8434583 8470048 8478007 8499919 8594556 8680410 8772212 8825645 9222764 9450791 9525872 9590153 10090477 10094553 10595634 10647899 10698280 10739381 10874302 10942410 10980527 11013449 11122099 11328285 12588353 12780784 12997790 14675097 15086324 15266608 15569175 15921378 16199547 16270648 16643212 17397055 18479429 18540896 18624698 19686262 19699296 19815722 20301668 20695909 22103590 22544209 22639855 23093250 24375831 27213901 29388750 29993188 31026269 31257730 31840356 32155688 32581362 32875744 34355501 1346077 2592373 27529981 27865967 28752769 29656491 7974341 1495722 11931806 8579061 18024414 9065715 1871712 1896457 12851537 17362228 16822719 2405809 15178576 10919411 9446637 18166748 12549778 19522246 2360238 8639777 2220765 9275366 20305539 20056791 18367956 15118937 14664288 18726486 16163377 9394892 2385589 17069028 9811389 18388500 18284939 17066096 15385350 11583320 9354664 9100030 1776139 2094957 9184407 8713776 8591581 7974379 8177803 8324220 1980717 18675136 9198163 7482403 8338876 1531035 2265248 19515028 18176193 11025603 9679854 8028609 19554182 17475604 12933577 11520790 8693515 15357775 11754103 1733855 1502146 7474642 9207793 18028421 17596134 16474400 12871416 11722527 10514264 9883841 10569955 9331959 12515715 12516047 12199671 11912512 12174674 11380446 11369429 10838449 10517121 1395299 1609775 1571154 1865518 2120893
1	F9::GH0XJ139530	TSS distance: +0.0kb Elite association with F9			Curated enhancer-disease association ²³ ( 27569544)	1631558 1733855 3416069 7633432 8324220 23472758 24138812
2	F8	Coagulation Factor VIII	Protein Coding	461.24	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Pathways & Interactions (show sections)	31064749 17596134 10498242 (more) 10517121 16051741 20001991 20102490 8904186 12662279
3	F10	Coagulation Factor X	Protein Coding	30.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Pathways & Interactions (show sections)	14717973
4	F3	Coagulation Factor III, Tissue Factor	Protein Coding	25.18	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	20305539 7474642 16051741 (more) 12871546 16427374 12871314 9883840 19379592
5	F2	Coagulation Factor II, Thrombin	Protein Coding	22.81	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10514264 16543964 16427374 (more) 18374200
6	F11	Coagulation Factor XI	Protein Coding	22.67	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Pathways & Interactions (show sections)	14717973
7	F7	Coagulation Factor VII	Protein Coding	15.59	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	SERPINC1	Serpin Family C Member 1	Protein Coding	14.54	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	GGCX	Gamma-Glutamyl Carboxylase	Protein Coding	12.48	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
10	CPB2	Carboxypeptidase B2	Protein Coding	12.44	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	12.3	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	CKM	Creatine Kinase, M-Type	Protein Coding	12.29	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
13	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	12	DISEASES inferred ¹⁴ GeneCards inferred via : Functions (show sections)
14	DBP	D-Box Binding PAR BZIP Transcription Factor	Protein Coding	11.77	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	ONECUT1	One Cut Homeobox 1	Protein Coding	11.72	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
16	HPS6	HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3	Protein Coding	11.59	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	FGA	Fibrinogen Alpha Chain	Protein Coding	11.38	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	11.24	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
19	PF4	Platelet Factor 4	Protein Coding	10.95	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	ONECUT2	One Cut Homeobox 2	Protein Coding	10.74	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	GP1BB	Glycoprotein Ib Platelet Subunit Beta	Protein Coding	10.15	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
22	GP9	Glycoprotein IX Platelet	Protein Coding	10.08	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
23	TNFRSF11B	TNF Receptor Superfamily Member 11b	Protein Coding	7.46	GeneCards inferred via : Publications (show sections)
24	VWF	Von Willebrand Factor	Protein Coding	6.87	DISEASES inferred ¹⁴
25	GP5	Glycoprotein V Platelet	Protein Coding	6.79	GeneCards inferred via : Pathways & Interactions (show sections)
26	PPP1R12C	Protein Phosphatase 1 Regulatory Subunit 12C	Protein Coding	6.47	DISEASES inferred ¹⁴
27	LPL	Lipoprotein Lipase	Protein Coding	6.44	DISEASES inferred ¹⁴
28	TFPI	Tissue Factor Pathway Inhibitor	Protein Coding	6.43	DISEASES inferred ¹⁴
29	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.42	DISEASES inferred ¹⁴
30	SERPINA1	Serpin Family A Member 1	Protein Coding	6.28	DISEASES inferred ¹⁴
31	GFM1	G Elongation Factor Mitochondrial 1	Protein Coding	6.24	DISEASES inferred ¹⁴
32	KIAA0319L	KIAA0319 Like	Protein Coding	6.19	DISEASES inferred ¹⁴

Sources

Variations for Hemophilia B

ClinVar genetic disease variations for Hemophilia B:

⁵ (show top 50) (show all 369)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	F9	NM_000133.4(F9):c.79G>A (p.Glu27Lys)	SNV	Pathogenic	10570	rs387906475	GRCh37: X:138613002-138613002 GRCh38: X:139530843-139530843
2	F9	NM_000133.4(F9):c.218A>T (p.Glu73Val)	SNV	Pathogenic	10571	rs137852226	GRCh37: X:138619298-138619298 GRCh38: X:139537139-139537139
3	F9	NM_000133.4(F9):c.237A>C (p.Glu79Asp)	SNV	Pathogenic	10574	rs137852229	GRCh37: X:138619317-138619317 GRCh38: X:139537158-139537158
4	F9	NM_000133.4(F9):c.278A>G (p.Asp93Gly)	SNV	Pathogenic	10576	rs137852230	GRCh37: X:138623235-138623235 GRCh38: X:139541076-139541076
5	F9	NM_000133.4(F9):c.287A>C (p.Gln96Pro)	SNV	Pathogenic	10577	rs137852231	GRCh37: X:138623244-138623244 GRCh38: X:139541085-139541085
6	F9	NM_000133.4(F9):c.329A>G (p.Asp110Gly)	SNV	Pathogenic	10580	rs137852234	GRCh37: X:138623286-138623286 GRCh38: X:139541127-139541127
7	F9	NM_000133.4(F9):c.479G>C (p.Gly160Ala)	SNV	Pathogenic	10581	rs137852235	GRCh37: X:138630609-138630609 GRCh38: X:139548450-139548450
8	F9	NM_000133.4(F9):c.496A>T (p.Asn166Tyr)	SNV	Pathogenic	10582	rs137852236	GRCh37: X:138630626-138630626 GRCh38: X:139548467-139548467
9	F9	NM_000133.4(F9):c.655C>T (p.Gln219Ter)	SNV	Pathogenic	10589	rs137852239	GRCh37: X:138633355-138633355 GRCh38: X:139551196-139551196
10	F9	NM_000133.4(F9):c.677G>A (p.Arg226Gln)	SNV	Pathogenic Pathogenic	10591	rs137852241	GRCh37: X:138633377-138633377 GRCh38: X:139551218-139551218
11	F9	NM_000133.4(F9):c.541G>T (p.Val181Phe)	SNV	Pathogenic	10592	rs387906477	GRCh37: X:138633241-138633241 GRCh38: X:139551082-139551082
12	F9	NM_000133.4(F9):c.682G>T (p.Val228Phe)	SNV	Pathogenic	10593	rs137852243	GRCh37: X:138633382-138633382 GRCh38: X:139551223-139551223
13	F9	NM_000133.4(F9):c.682G>C (p.Val228Leu)	SNV	Pathogenic	10594	rs137852243	GRCh37: X:138633382-138633382 GRCh38: X:139551223-139551223
14	F9	NM_000133.4(F9):c.540_541del (p.Arg180fs)	MICROSAT	Pathogenic	10667	rs587776736	GRCh37: X:138633238-138633239 GRCh38: X:139551079-139551080
15	F9	NM_000133.4(F9):c.1151G>C (p.Arg384Pro)	SNV	Pathogenic	10660	rs137852283	GRCh37: X:138643995-138643995 GRCh38: X:139561836-139561836
16	F9	NC_000023.11:g.(?_139530759)_(139562076_?)del	DEL	Pathogenic	537740		GRCh37: X:138612918-138644235 GRCh38: X:139530759-139562076
17	F9	NC_000023.11:g.(?_139530701)_(139563439_?)del	DEL	Pathogenic	658437		GRCh37: X:138612860-138645598 GRCh38: X:139530701-139563439
18	overlap with 5 genes	NC_000023.10:g.(?_138612860)_(139587225_?)del	DEL	Pathogenic	665638		GRCh37: X:138612860-139587225 GRCh38:
19	F8	NM_000132.4(F8):c.6686T>C (p.Leu2229Pro)	SNV	Pathogenic	626935	rs1603431506	GRCh37: X:154090030-154090030 GRCh38: X:154861755-154861755
20	F8	NM_000132.4(F8):c.1364T>G (p.Phe455Cys)	SNV	Pathogenic	626992	rs1603435217	GRCh37: X:154194324-154194324 GRCh38: X:154966049-154966049
21	F8	NM_000132.4(F8):c.2043G>C (p.Met681Ile)	SNV	Pathogenic	627033	rs1603434460	GRCh37: X:154176043-154176043 GRCh38: X:154947768-154947768
22	F8	NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)	SNV	Pathogenic	10327	rs137852469	GRCh37: X:154088863-154088863 GRCh38: X:154860588-154860588
23	F9	NM_000133.4(F9):c.755G>C (p.Cys252Ser)	SNV	Pathogenic	10666	rs267606792	GRCh37: X:138642931-138642931 GRCh38: X:139560772-139560772
24	F9	NM_000133.4(F9):c.1031T>C (p.Ile344Thr)	SNV	Pathogenic	10665	rs387906482	GRCh37: X:138643875-138643875 GRCh38: X:139561716-139561716
25	F9	NM_000133.4(F9):c.277+2T>C	SNV	Pathogenic	10664	rs587776735	GRCh37: X:138619547-138619547 GRCh38: X:139537388-139537388
26	F9	F9, 17747G-A	SNV	Pathogenic	10663		GRCh37: GRCh38:
27	F9	NM_000133.4(F9):c.1189G>C (p.Ala397Pro)	SNV	Pathogenic	10662	rs137852281	GRCh37: X:138644033-138644033 GRCh38: X:139561874-139561874
28	F9	F9, 17747G-C	SNV	Pathogenic	10655		GRCh37: GRCh38:
29	F9	NM_000133.4(F9):c.1256T>A (p.Val419Glu)	SNV	Pathogenic	10658	rs137852280	GRCh37: X:138644100-138644100 GRCh38: X:139561941-139561941
30	F9	NM_000133.4(F9):c.31T>A (p.Ser11Thr)	SNV	Pathogenic	10656	rs387906480	GRCh37: X:138612954-138612954 GRCh38: X:139530795-139530795
31	F9	F9, ALU INSERTION, EX5	INSERT	Pathogenic	10654		GRCh37: GRCh38:
32	F9	NM_000133.4(F9):c.872A>T (p.Glu291Val)	SNV	Pathogenic	10652	rs137852279	GRCh37: X:138643716-138643716 GRCh38: X:139561557-139561557
33	F9	NM_000133.4(F9):c.1228G>C (p.Asp410His)	SNV	Pathogenic	10651	rs137852278	GRCh37: X:138644072-138644072 GRCh38: X:139561913-139561913
34	F9	NM_000133.4(F9):c.1231A>G (p.Ser411Gly)	SNV	Pathogenic	10650	rs137852277	GRCh37: X:138644075-138644075 GRCh38: X:139561916-139561916
35	F9	NM_000133.4(F9):c.1232G>T (p.Ser411Ile)	SNV	Pathogenic	10649	rs137852276	GRCh37: X:138644076-138644076 GRCh38: X:139561917-139561917
36	F9	NM_000133.4(F9):c.328G>A (p.Asp110Asn)	SNV	Pathogenic	10643	rs137852274	GRCh37: X:138623285-138623285 GRCh38: X:139541126-139541126
37	F9	NM_000133.4(F9):c.1187G>C (p.Cys396Ser)	SNV	Pathogenic	10642	rs137852273	GRCh37: X:138644031-138644031 GRCh38: X:139561872-139561872
38	F9	F9, EX7DEL	DEL	Pathogenic	10637		GRCh37: GRCh38:
39	F9	F9, EX51INS	INSERT	Pathogenic	10636		GRCh37: GRCh38:
40	F9	F9, EX5-8DEL	DEL	Pathogenic	10635		GRCh37: GRCh38:
41	F9	F9, EX4INS	INSERT	Pathogenic	10626		GRCh37: GRCh38:
42	F9	F9, EX4DEL	DEL	Pathogenic	10625		GRCh37: GRCh38:
43	F9	F9, EX4-5DEL	DEL	Pathogenic	10634		GRCh37: GRCh38:
44	F9	F9, EX2-8DEL	DEL	Pathogenic	10633		GRCh37: GRCh38:
45	F9	F9, EX1-3DEL	DEL	Pathogenic	10632		GRCh37: GRCh38:
46	F9	F9, EX1DEL	DEL	Pathogenic	10631		GRCh37: GRCh38:
47	F9	F9, EX1-8DEL	DEL	Pathogenic	10630		GRCh37: GRCh38:
48	F9	NM_000133.4(F9):c.1369A>T (p.Lys457Ter)	SNV	Pathogenic	10629	rs137852270	GRCh37: X:138644213-138644213 GRCh38: X:139562054-139562054
49	F9	NM_000133.4(F9):c.1357T>C (p.Trp453Arg)	SNV	Pathogenic	10628	rs137852269	GRCh37: X:138644201-138644201 GRCh38: X:139562042-139562042
50	F9	NM_000133.4(F9):c.1324G>A (p.Gly442Arg)	SNV	Pathogenic	10624	rs137852267	GRCh37: X:138644168-138644168 GRCh38: X:139562009-139562009

UniProtKB/Swiss-Prot genetic disease variations for Hemophilia B:

⁷³ (show top 50) (show all 138)

#	Symbol	AA change	Variation ID	SNP ID
1	F9	p.Ile17Asn	VAR_006521
2	F9	p.Cys28Arg	VAR_006522	rs387906481
3	F9	p.Val30Ile	VAR_006523
4	F9	p.Arg43Gln	VAR_006524	rs1275708479
5	F9	p.Arg43Leu	VAR_006525	rs1275708479
6	F9	p.Arg43Trp	VAR_006526	rs1603264205
7	F9	p.Lys45Asn	VAR_006527
8	F9	p.Arg46Ser	VAR_006528
9	F9	p.Arg46Thr	VAR_006529
10	F9	p.Asn48Ile	VAR_006530
11	F9	p.Ser49Pro	VAR_006531
12	F9	p.Glu53Ala	VAR_006532
13	F9	p.Glu54Gly	VAR_006533
14	F9	p.Phe55Cys	VAR_006534
15	F9	p.Gly58Ala	VAR_006535
16	F9	p.Gly58Arg	VAR_006536
17	F9	p.Glu66Val	VAR_006538
18	F9	p.Glu67Lys	VAR_006539	rs1410080079
19	F9	p.Phe71Ser	VAR_006540
20	F9	p.Glu73Lys	VAR_006541	rs137852225
21	F9	p.Glu73Val	VAR_006542	rs137852226
22	F9	p.Tyr91Cys	VAR_006543
23	F9	p.Asp93Gly	VAR_006544	rs137852230
24	F9	p.Gln96Pro	VAR_006545	rs137852231
25	F9	p.Cys97Ser	VAR_006546
26	F9	p.Pro101Arg	VAR_006547
27	F9	p.Cys102Arg	VAR_006548	rs1603264719
28	F9	p.Gly106Ser	VAR_006549	rs137852233
29	F9	p.Cys108Ser	VAR_006550
30	F9	p.Asp110Asn	VAR_006551	rs137852274
31	F9	p.Ile112Ser	VAR_006552
32	F9	p.Asn113Lys	VAR_006553
33	F9	p.Tyr115Cys	VAR_006554	rs1603264727
34	F9	p.Cys119Phe	VAR_006555
35	F9	p.Cys119Arg	VAR_006556
36	F9	p.Gly125Glu	VAR_006557
37	F9	p.Gly125Val	VAR_006558
38	F9	p.Ile136Thr	VAR_006560	rs1603265481
39	F9	p.Gly139Asp	VAR_006561	rs1216516070
40	F9	p.Gly139Ser	VAR_006562
41	F9	p.Cys155Phe	VAR_006563	rs1330705989
42	F9	p.Gly160Glu	VAR_006564
43	F9	p.Gln167His	VAR_006565
44	F9	p.Cys178Arg	VAR_006566
45	F9	p.Cys178Trp	VAR_006567
46	F9	p.Arg191His	VAR_006568	rs137852238
47	F9	p.Arg191Cys	VAR_006569	rs137852237
48	F9	p.Arg226Trp	VAR_006570	rs137852240
49	F9	p.Arg226Gly	VAR_006571
50	F9	p.Arg226Gln	VAR_006572	rs137852241

Copy number variations for Hemophilia B from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	259590	X	138440560	138473283	Insertion	F9	Hemophilia B

Sources

Expression for Hemophilia B

Search GEO for disease gene expression data for Hemophilia B.

Sources

Pathways for Hemophilia B

Pathways directly related to Hemophilia B:

#	Pathway	Source
1	Defects of contact activation system (CAS) and kallikrein/kinin system (KKS)	Reactome ⁶⁶
2	Defective gamma-carboxylation of F9	Reactome ⁶⁶
3	Defective F9 activation	Reactome ⁶⁶
4	Diseases of hemostasis	Reactome ⁶⁶
5	Defective F9 variant does not activate FX	Reactome ⁶⁶
6	Defective factor IX causes hemophilia B	Reactome ⁶⁶
7	Defective F9 secretion	Reactome ⁶⁶

Pathways related to Hemophilia B according to GeneCards Suite gene sharing:

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of proteins ⁶⁶ Show member pathways Post-translational protein modification ⁶⁶	13.71	CPB2 F10 F2 F7 F8 F9
2	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.6	GP1BA GGCX FURIN FGA F9 F8
3	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.12	F10 F11 F2 F3 F7 F8
4	Complement cascade ⁶⁶ Show member pathways Activation of C3 and C5 ⁶⁶ Classical Complement Pathway ⁶⁴ Complement Pathway ⁶⁴ Complement system ⁷⁴ Complement system in neuronal development and plasticity ⁷⁴ Lectin Induced Complement Pathway ⁶⁴ Regulation of Complement cascade ⁶⁶	12.39	FGA F2 F10 CPB2
5	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen degradation ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴	12.36	F10 F11 F2 F3 F7 F8
6	Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) ⁶⁶ Show member pathways Blood clotting cascade ⁷⁴ Blood Coagulation Signaling Pathways ⁶⁵ Common Pathway of Fibrin Clot Formation ⁶⁶ Complement and coagulation cascades ⁷⁴ Defective F8 binding to von Willebrand factor ⁶⁶ Defective F8 cleavage by thrombin ⁶⁶ Defective F8 sulfation at Y1699 ⁶⁶ Defective F9 activation ⁶⁶ Defective F9 secretion ⁶⁶ Defective factor IX causes hemophilia B ⁶⁶ Defective factor VIII causes hemophilia A ⁶⁶ Defective factor XII causes hereditary angioedema ⁶⁶ Defective gamma-carboxylation of F9 ⁶⁶ Diseases of hemostasis ⁶⁶ Extrinsic Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Prothrombin Activation Pathway ⁶⁴ Formation of Fibrin Clot (Clotting Cascade) ⁶⁶ Intrinsic Pathway of Fibrin Clot Formation ⁶⁶ Thrombin/protease-activated receptor (PAR) pathway ⁶¹	11.9	SERPINC1 PF4 GP1BA GGCX FGA F9
7	Gamma carboxylation, hypusine formation and arylsulfatase activation ⁶⁶ Show member pathways diphthamide biosynthesis ⁶¹ Gamma-carboxylation of protein precursors ⁶⁶ Gamma-carboxylation, transport, and amino-terminal cleavage of proteins ⁶⁶ hypusine biosynthesis ⁶¹ Hypusine synthesis from eIF5A-lysine ⁶⁶ Removal of aminoterminal propeptides from gamma-carboxylated proteins ⁶⁶ Synthesis of diphthamide-EEF2 ⁶⁶ The activation of arylsulfatases ⁶⁶ Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus ⁶⁶	11.74	GGCX FURIN F9 F8 F7 F2
8	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.68	GP1BA FGA F2
9	Heparin-induced Thrombocytopenia Pathway, Adverse Drug Reaction ⁶⁰	11.18	PF4 F3 F2
10	Warfarin Pathway, Pharmacodynamics ⁶⁰ Show member pathways Vitamin K metabolism and activation of dependent proteins ⁷⁴ vitamin K-epoxide cycle ⁶¹	11.17	GGCX F9 F7 F2 F10
11	Beta2 integrin cell surface interactions ⁶¹	11.04	GP1BA FGA F10
12	Defective factor IX causes thrombophilia ⁶⁶ Show member pathways Defective cofactor function of FVIIIa variant ⁶⁶ Defective F8 accelerates dissociation of the A2 domain ⁶⁶ Defective F8 binding to the cell membrane ⁶⁶ Defective F8 secretion ⁶⁶ Defective F9 variant does not activate FX ⁶⁶	10.62	F9 F8 F10
13	Biomarkers for urea cycle disorders ⁷⁴	10.57	F7 F10
14	COVID-19, thrombosis and anticoagulation ⁷⁴	10.3	FGA F2

Sources

GO Terms for Hemophilia B

Cellular components related to Hemophilia B according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	10.49	CPB2 F10 F11 F2 F3 F7
2	collagen-containing extracellular matrix	GO:0062023	10.17	SERPINC1 PF4 FGA F9 F7 F3
3	endoplasmic reticulum lumen	GO:0005788	10.1	F10 F2 F7 F8 F9 FGA
4	platelet alpha granule lumen	GO:0031093	9.93	PF4 FGA F8
5	serine-type endopeptidase complex	GO:1905370	9.76	F9 F7 F2 F10
6	extracellular space	GO:0005615	9.75	CKM CPB2 F10 F11 F2 F3
7	Golgi lumen	GO:0005796	9.73	FURIN F9 F8 F7 F2 F10
8	serine-type peptidase complex	GO:1905286	9.71	F7 F3
9	obsolete intrinsic component of external side of plasma membrane	GO:0031233	9.37	F3 F10

Biological processes related to Hemophilia B according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	10.14	CPB2 F10 F11 F2 F7 F9
2	blood coagulation	GO:0007596	10.09	CPB2 F10 F11 F2 F3 F7
3	fibrinolysis	GO:0042730	9.92	GP1BA FGA F2 CPB2
4	platelet activation	GO:0030168	9.91	PF4 GP1BA FGA F2
5	plasminogen activation	GO:0031639	9.78	FGA F11
6	blood coagulation, intrinsic pathway	GO:0007597	9.76	GP1BA F8
7	positive regulation of platelet-derived growth factor receptor signaling pathway	GO:0010641	9.73	F7 F3
8	regulation of blood coagulation	GO:0030193	9.73	F11 F2 GP1BA SERPINC1
9	regulation of body fluid levels	GO:0050878	9.55	F9 F8 F7 F2 F10
10	hemostasis	GO:0007599	9.36	CPB2 F10 F11 F2 F3 F7

Molecular functions related to Hemophilia B according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	heparin binding	GO:0008201	9.96	SERPINC1 PF4 FURIN F2 F11
2	endopeptidase activity	GO:0004175	9.8	FURIN F9 F7 F10
3	peptidase activity	GO:0008233	9.76	CPB2 F10 F11 F2 F7 F9
4	serine-type peptidase activity	GO:0008236	9.5	FURIN F9 F7 F2 F11 F10
5	serine-type endopeptidase activity	GO:0004252	9.47	FURIN F9 F7 F3 F2 F11