MCID: HMP004
MIFTS: 80

Hemophilia B malady

Blood diseases category

Summaries for Hemophilia B

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Hemophilia b is a bleeding disorder that slows the blood clotting process. people with this condition experience prolonged bleeding or oozing following an injury or surgery. in severe cases of hemophilia, heavy bleeding occurs after minor trauma 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 mutations in the f9 gene. last updated: 6/16/2011

MalaCards: Hemophilia B, also known as factor ix deficiency, is related to hypertension and amyloidosis. An important gene associated with Hemophilia B is F9 (coagulation factor IX), and among its related pathways are PTM: gamma carboxylation, hypusine formation and arylsulfatase activation and Common Pathway. The drugs recombinant fviia and factor ix,recombinant and the compounds estrogen and dextran sulfate have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skeletal muscle, and related mouse phenotypes are cardiovascular system and hematopoietic system.

Disease Ontology:8 An inherited 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:63 Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene,... more...

Description from OMIM:46 306900

GeneReviews summary for hemo-b

Aliases & Classifications for Hemophilia B

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 27ICD9CM, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
hemophilia b:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hemophilia b 8 9 19 42 20 22 46 10 44 48 60
factor ix deficiency 8 19 42 48
christmas disease 19 42
deficiency, functional factor ix 8
congenital factor ix deficiency 8
congenital factor ix disorder 8
hemorrhage 60
hem b 42


External Ids:

Disease Ontology8 DOID:12259
OMIM46 306900
ICD9CM27 286.1
MeSH34 D002836
NCIt39 C26721
MESH via Orphanet35 D002836
ICD10 via Orphanet26 D67
SNOMED-CT via Orphanet57 41788008
UMLS via Orphanet61 C0008533

Related Diseases for Hemophilia B

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hemophilia B family:

Hemophilia Hemophilia a, Acquired
Acquired Hemophilia Hemophilia a, Congenital
Severe Hemophilia a Severe Hemophilia B

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

(show top 50)    (show all 1170)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.8F2
2amyloidosis30.8F9, F10
3stroke, ischemic30.8F2, F7
4ischemia30.6PF4, F10
5leukemia30.6CKM, F9, F8, EGF, F10, F11
6hepatitis b30.5F2, F8, F9, HNF4A
7hepatitis30.5HNF4A, F9, F8, F10, F2
8factor vii deficiency30.5F3, F7, F10, EGF, F8, F9
9antiphospholipid syndrome30.4F8, F10, PF4, F3, VWF, F2
10lupus erythematosus30.4F2, F3
11hemangioma30.4F8
12systemic lupus erythematosus30.4F8, FBN1, F10, F3, VWF, F2
13endocarditis30.3F10
14nephrotic syndrome30.3F9
15hepatitis a30.3F2, F8
16factor xi deficiency30.3F9, F8, F11, F7, F2, F3
17acute myocardial infarction30.2CKM, F10, PF4, F7, F3, VWF
18angiodysplasia30.2VWF
19pulmonary embolism30.2F9, F10, PF4, F3, F2
20coronary artery disease30.2F9, FBN1, F10, PF4, F7, F3
21myocardial infarction30.2CKM, F9, F8, F10, F11, PF4
22factor x deficiency30.1F9, F10, F7, F3, F2
23factor xii deficiency30.1F3
24von willebrand's disease30.1F9, F8, F7, F3, VWF, F2
25thrombophilia30.1F8, F9, F10, F11, PF4, F2
26peritonitis30.1F2
27cardiac tamponade30.1F8
28vascular disease30.1F8, PF4, F3, VWF
29cadasil30.1F9, F8, F10, F11, PF4, F7
30factor v deficiency30.0F8, F3, F2
31vitamin k deficiency hemorrhagic disease30.0F8, F2
32liver cirrhosis30.0F2
33hellp syndrome30.0VWF
34hemorrhagic disease30.0F9
35herpes simplex30.0F10, F9, HNF4A
36acquired immunodeficiency syndrome30.0F8
37aortic aneurysm30.0FBN1
38connective tissue disease30.0F2, VWF, F3, FBN1
39cystic fibrosis30.0F8, F9
40arthropathy30.0F9, F8
41hemarthrosis30.0VWF, F3, F10, F8, F9
42disseminated intravascular coagulation30.0F9, F8, F10, PF4, F7, F3
43thrombocytopenia29.9F9, F8, F10, PF4, F7, F3
44arthritis29.9FBN1, F10
45rheumatoid arthritis29.9PF4, F10
46sickle cell disease29.9F9, PF4, VWF
47atherosclerosis29.9HNF4A, FBN1, PF4, F7, F3, VWF
48polycythemia vera29.9PF4
49portal vein thrombosis29.9F2, F8
50hemolytic-uremic syndrome29.9VWF

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



Diseases related to hemophilia b

Clinical Features for Hemophilia B

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Sources:
46OMIM
See all sources

Clinical features from OMIM:

306900

Clinical synopsis from OMIM:

306900

Drugs & Therapeutics for Hemophilia B

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hemophilia B

Drug clinical trials:

Search ClinicalTrials for Hemophilia B

Search NIH Clinical Center for Hemophilia B

Search CenterWatch for Hemophilia B

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Hemophilia B

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Hemophilia B:

id Genetic test Affiliating Genes
1 Hemophilia B20 F9
2 Hemophilia B(m)22

Anatomical Context for Hemophilia B

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32MalaCards
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MalaCards organs/tissues related to Hemophilia B:

32
Brain, Liver, Skeletal muscle, B cells, Skin, Testes, Endothelial, T cells, Whole blood, Kidney, Bone, Colon

Animal Models for Hemophilia B or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Hemophilia B:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.2CKM, F9, FBN1, F10, F11, F7
2MP:00053978.1F9, F8, FBN1, F11, PF4, F3
3MP:00053877.9TIMD4, F9, F8, FBN1, EGF, F11
4MP:00107687.2F11, F10, FBN1, F8, F9, HNF4A
5MP:00053766.9CPB2, CKM, HNF4A, F9, F8, FBN1

Publications for Hemophilia B

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Sources:
50PubMed
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Articles related to Hemophilia B:

(show top 50)    (show all 497)
idTitleAuthorsYear
1
Hemophilia B Leyden and once mysterious cis-regulatory mutations. (24138812)
2014
2
Factor IX ectopically expressed in platelets can be stored in alpha-granules and corrects the phenotype of hemophilia B mice. (20445020)
2010
3
Wound healing in hemophilia B mice and low tissue factor mice. (20170942)
2010
4
An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden. (19416882)
2009
5
AAV-mediated gene transfer for the treatment of hemophilia B: problems and prospects. (18432276)
2008
6
Therapeutic effects of hepatocyte transplantation on hemophilia B. (18622295)
2008
7
Restoring hemostatic thrombin generation at the time of cutaneous wounding does not normalize healing in hemophilia B. (17663728)
2007
8
Hemophilia B diagnosed by hematoma at the columella base. (16641746)
2006
9
Reduction of the inhibitory antibody response to human factor VIII in hemophilia A mice by mutagenesis of the A2 domain B-cell epitope. (15073030)
2004
10
More on: unusual expression of the F9 gene in peripheral lymphocytes hinders investigation of F9 mRNA in hemophilia B patients. (15140150)
2004
11
Long-term aspects of hemophilia B treatment: part I-role for prophylaxis. (15322452)
2004
12
Long-term aspects of hemophilia B treatment: part II. (15322453)
2004
13
Establishment of a hemophilia B transgenic mouse model on the basis of coagulation factor IX gene knock-out mouse]. (12143307)
2002
14
Gene therapy for hemophilia B: AAV-mediated transfer of the gene for coagulation factor IX to human muscle. (11554590)
2001
15
Gallbladder hematoma in a patient with hemophilia B, report of a case. (11020853)
2000
16
Sustained correction of bleeding disorder in hemophilia B mice by gene therapy. (10097136)
1999
17
Polymorphism of DXS102 locus in Chinese population and its application to gene diagnosis in hemophilia B family. (11245073)
1998
18
Detection of carrier status of hemophilia B using DNA markers. (9561621)
1997
19
Heteroduplex analysis in hemophilia B: detection of two novel factor IX gene mutations. (8602635)
1996
20
An unusual reason for obstructive sleep apnea in a boy with hemophilia B: supraglottic papilloma. (8770685)
1996
21
Hepatic gene therapy for hemophilia B. (8851032)
1995
22
Female twins with severe Christmas disease (hemophilia B). (7907444)
1993
23
A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B. (8401514)
1993
24
Hemophilia B in a 46,XX female probably caused by non-random X inactivation. (8096443)
1993
25
Purified factor IX using monoclonal immunoaffinity technique: clinical trials in hemophilia B and comparison to prothrombin complex concentrates. (1531035)
1992
26
Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). (1986380)
1991
27
CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series. (2066105)
1991
28
Isoleucine-397 is changed to threonine in two females with hemophilia B. (1902289)
1991
29
Group B streptococcal polyarthritis complicating hemophilia B. (2120893)
1990
30
Factor IX concentrate versus prothrombin complex concentrate for the treatment of hemophilia B during surgery. (2360238)
1990
31
DNA sequence analysis of three inhibitor-positive hemophilia B patients without gross gene deletion: identification of four novel mutations in factor IX gene. (2212858)
1990
32
Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B. (2741941)
1989
33
Extragenic factor IX gene RFLP is useful for detecting carriers of Japanese hemophilia B. (2575831)
1989
34
The putative factor IX gene promoter in hemophilia B Leyden. (3416069)
1988
35
Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B. (3790720)
1987
36
Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX. (2821070)
1987
37
Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor. (3461460)
1986
38
The molecular basis of severe hemophilia B in a girl. (3093864)
1986
39
Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene. (6325506)
1984
40
Obstetric care of the affected carrier of hemophilia B. (6877705)
1983
41
Monoclonal antibody to an epitope on the heavy chain of factor IX missing in three hemophilia-B patients. (6194835)
1983
42
Enzyme-linked immunosorbent assay (ELISA) for the detection of antibodies to factor IX in hemophilia B. (7302899)
1981
43
Gastrectomy in siblings with Christmas disease (hemophilia B). (6971362)
1980
44
Laboratory prediction of the carrier state in hemophilia B: role of replication of assays. (391020)
1979
45
Subacute subdural hematoma in hemophilia B: a case report of successful treatment. (74030)
1977
46
Orthotopic liver transplantation in canine hemophilia B. (4593805)
1974
47
Hemophilia B (Christmas disease) in a female. (5806258)
1969
48
THE LINKAGE RELATIONS OF HEMOPHILIA A AND HEMOPHILIA B (CHRISTMAS DISEASE) TO THE XG BLOOD GROUP SYSTEM. (14097242)
1963
49
Linkage of color blindness to hemophilias A and B. (14006651)
1962
50
Subcutaneous plasma in therapy of hemophilia B. (13863105)
1961

Genetic Variations for Hemophilia B

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hemophilia B:

62 (show all 137)
id Symbol AA change Variation ID SNP ID
1F9p.Ile17AsnVAR_006521
2F9p.Cys28ArgVAR_006522
3F9p.Val30IleVAR_006523
4F9p.Arg43GlnVAR_006524
5F9p.Arg43LeuVAR_006525
6F9p.Arg43TrpVAR_006526
7F9p.Lys45AsnVAR_006527
8F9p.Arg46SerVAR_006528
9F9p.Arg46ThrVAR_006529
10F9p.Asn48IleVAR_006530
11F9p.Ser49ProVAR_006531
12F9p.Glu53AlaVAR_006532
13F9p.Glu54GlyVAR_006533
14F9p.Phe55CysVAR_006534
15F9p.Gly58AlaVAR_006535
16F9p.Gly58ArgVAR_006536
17F9p.Glu66ValVAR_006538
18F9p.Glu67LysVAR_006539
19F9p.Phe71SerVAR_006540
20F9p.Glu73LysVAR_006541
21F9p.Glu73ValVAR_006542
22F9p.Tyr91CysVAR_006543
23F9p.Asp93GlyVAR_006544
24F9p.Gln96ProVAR_006545
25F9p.Cys97SerVAR_006546
26F9p.Pro101ArgVAR_006547
27F9p.Cys102ArgVAR_006548
28F9p.Gly106SerVAR_006549
29F9p.Cys108SerVAR_006550
30F9p.Asp110AsnVAR_006551
31F9p.Ile112SerVAR_006552
32F9p.Asn113LysVAR_006553
33F9p.Tyr115CysVAR_006554
34F9p.Cys119PheVAR_006555
35F9p.Cys119ArgVAR_006556
36F9p.Gly125GluVAR_006557
37F9p.Gly125ValVAR_006558
38F9p.Ile136ThrVAR_006560
39F9p.Gly139AspVAR_006561
40F9p.Gly139SerVAR_006562
41F9p.Cys155PheVAR_006563
42F9p.Gly160GluVAR_006564
43F9p.Gln167HisVAR_006565
44F9p.Cys178ArgVAR_006566
45F9p.Cys178TrpVAR_006567
46F9p.Arg191HisVAR_006568
47F9p.Arg191CysVAR_006569
48F9p.Arg226TrpVAR_006570
49F9p.Arg226GlyVAR_006571
50F9p.Arg226GlnVAR_006572
51F9p.Val227AspVAR_006573
52F9p.Val228LeuVAR_006574
53F9p.Gln241HisVAR_006575
54F9p.Gly253GluVAR_006576
55F9p.Gly253ArgVAR_006577
56F9p.Ala265ThrVAR_006578
57F9p.Ala279ThrVAR_006579
58F9p.Asn283AspVAR_006580
59F9p.Arg294GlyVAR_006582
60F9p.Arg294GlnVAR_006583
61F9p.His302ArgVAR_006584
62F9p.Ile316PheVAR_006585
63F9p.Leu321GlnVAR_006586
64F9p.Pro333HisVAR_006587
65F9p.Thr342LysVAR_006588
66F9p.Thr342MetVAR_006589
67F9p.Gly351AspVAR_006590
68F9p.Trp356CysVAR_006591
69F9p.Gly357GluVAR_006592
70F9p.Lys362GluVAR_006593
71F9p.Gly363TrpVAR_006594
72F9p.Ala366AspVAR_006595
73F9p.Arg379GlyVAR_006596
74F9p.Arg379GlnVAR_006597
75F9p.Cys382TyrVAR_006598
76F9p.Lys387GluVAR_006599
77F9p.Ile390PheVAR_006600
78F9p.Met394LysVAR_006601
79F9p.Cys396SerVAR_006602
80F9p.Arg404ThrVAR_006603
81F9p.Cys407SerVAR_006604
82F9p.Gly413ArgVAR_006605
83F9p.Val419GluVAR_006606
84F9p.Phe424ValVAR_006607
85F9p.Thr426ProVAR_006608
86F9p.Ser430ThrVAR_006609
87F9p.Trp431GlyVAR_006610
88F9p.Trp431ArgVAR_006611
89F9p.Gly432SerVAR_006612
90F9p.Gly432ValVAR_006613
91F9p.Glu433AlaVAR_006614
92F9p.Glu433LysVAR_006615
93F9p.Ala436ValVAR_006616
94F9p.Arg449GlnVAR_006618
95F9p.Arg449TrpVAR_006619
96F9p.Tyr450CysVAR_006620
97F9p.Ile454ThrVAR_006621
98F9p.Arg75GlnVAR_017308
99F9p.Glu79AspVAR_017309
100F9p.Val227PheVAR_017310
101F9p.Val228PheVAR_017311
102F9p.Cys252SerVAR_017312
103F9p.Cys268TrpVAR_017313
104F9p.Glu291ValVAR_017314
105F9p.Asn306SerVAR_017315
106F9p.Gly357ArgVAR_017316
107F9p.Ala397ProVAR_017317
108F9p.Asp410HisVAR_017318
109F9p.Ser411IleVAR_017319
110F9p.Ser411GlyVAR_017320
111F9p.Pro414ThrVAR_017321
112F9p.Gly442ArgVAR_017322
113F9p.Ile443ThrVAR_017323
114F9p.Trp453ArgVAR_017324
115F9p.Cys28TyrVAR_017343
116F9p.Leu52SerVAR_017344
117F9p.Thr84ArgVAR_017345
118F9p.Gly106AspVAR_017346
119F9p.Glu124LysVAR_017347
120F9p.Gly125ArgVAR_017348
121F9p.Cys134TyrVAR_017349
122F9p.Ser169CysVAR_017350
123F9p.Cys170PheVAR_017351
124F9p.Gln241LysVAR_017352
125F9p.Cys252TyrVAR_017353
126F9p.Leu318ArgVAR_017354
127F9p.Pro333ThrVAR_017355
128F9p.Ile344LeuVAR_017356
129F9p.Leu383IleVAR_017357
130F9p.Leu383PheVAR_017358
131F9p.Phe395IleVAR_017359
132F9p.Phe395LeuVAR_017360
133F9p.Cys396PheVAR_017361
134F9p.Cys407ArgVAR_017362
135F9p.Gly412GluVAR_017363
136F9p.Cys435TyrVAR_017364
137F9p.Gly442GluVAR_017365

Expression for genes affiliated with Hemophilia B

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemophilia B

Search GEO for disease gene expression data for Hemophilia B.

Pathways for genes affiliated with Hemophilia B

About this section
Sources:
53Reactome, 51QIAGEN, 49PharmGKB, 37NCBI BioSystems Database, 52R&D Systems, 29KEGG
See all sources

Pathways related to Hemophilia B according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6F2, F7, F10, F9
2
Hide members
9.6F10, F7, F3, F2
3
Hide members
9.5F9, F10, F7, F3, F2
4
Hide members
9.4CPB2, F2, F7, F10, F9
5
Hide members
9.3F8, EGF, PF4, VWF
6
Hide members
8.9F9, F8, FBN1, F10, F11, F7
7
Hide members
8.8F9, F8, F10, F11, F7, F3
8
Hide members
8.8F9, F8, EGF, F10, F11, PF4
9
Hide members
8.6CPB2, F9, F2, VWF, F3, F7

Compounds for genes affiliated with Hemophilia B

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 2BitterDB, 59Tocris Bioscience, 28IUPHAR
See all sources

Compounds related to Hemophilia B according to GeneCards/GeneDecks:

(show top 50)    (show all 142)
idCompoundScoreTop Affiliating Genes
1estrogen4410.3F9, F8
2dextran sulfate4410.2F11, F10, F9
3Gamma-Carboxy-Glutamic Acid1110.2F2, F10, F9
4ecarin4410.1F2, F3, F10
5organon4410.1F9, F10, F3, F2
6coumarins4410.1F9, F10, F3, F2
7tributylphosphate4410.1F9, F8, VWF
8warfarin44 49 11 2413.0VWF, PF4, F9
9rfviii4410.0F9, F8, F10, VWF
10Coagulation factor VIIa1110.0F10, F7, F3
11cardiolipin44 1111.0F10
12kaolin4410.0F9, F8, F10, F3, F2
13spectrozyme4410.0F10, F3, F2
14cacl2449.9F9, F8, FBN1, F10, F3
15hydroxyethyl starch449.9F8, F3, VWF, F2
16rivaroxaban44 1110.9F2, F3, F10
17ppack449.9F10, F3, VWF, F2
18Coagulation Factor IX119.9F8, F10, F11, F7, F2
19danaparoid449.9F10, PF4, F3, F2
20tranexamic acid44 1110.8F9, F8, F3, VWF, F2
21protamine sulfate449.8F10, PF4, F3, F2
22polybrene449.8PF4, F3, F2
23fondaparinux449.8F9, F10, PF4, F3, F2
24coumarin44 2 49 2412.7F9, F10, F3, F2
25ristocetin449.7F9, F8, F11, F3, VWF, F2
26desmopressin44 59 28 1112.7F9, F8, F11, F3, VWF, F2
27acetaminophen44 2 49 11 2413.7F9, F8, F10, VWF, F2
28tirofiban44 1110.6F10, PF4, F3, VWF, F2
29abciximab44 1110.5F10, PF4, F3, VWF, F2
30phosphatidylserine44 28 1111.5F9, F8, F10, F3, VWF, F2
31clopidogrel49 44 11 2412.5F10, F3, VWF, F2
32aprotinin44 1110.5F9, F10, F11, PF4, F3, VWF
33homocysteine44 2410.4F9, F8, FBN1, F11, F3, VWF
34heparin44 28 11 2412.3F9, F8, FBN1, F10, F11, PF4
35dermatan sulfate449.3F9, F10, F11, PF4, F3, VWF
36citrate449.2F9, F8, F10, PF4, F3, VWF
37kininogen449.2F9, F11, PF4, F7, F3, VWF
38phospholipid449.2F9, F8, F10, F11, F3, VWF
39aspirin44 49 28 2412.1HNF4A, F8, F10, PF4, F3, VWF
40hirudin449.1F9, F8, F2, VWF, F3, PF4
41aspartate449.0F9, F8, F10, F7, F3, VWF
42lysine449.0HNF4A, F9, F8, FBN1, PF4, KRT5
43gamma-carboxyglutamic acid448.9GFM1, F2, F3, F7, PF4, F10
44serine448.7CKM, HNF4A, F9, F8, FBN1, F10
45creatinine448.7CKM, F9, F8, PF4, F7, F3
46fibrinogen448.6F9, F8, F10, F11, PF4, F7
47alanine448.5HNF4A, F9, F8, FBN1, F10, PF4
48arginine448.4CKM, HNF4A, F9, F8, FBN1, F10
49cysteine448.4CKM, HNF4A, F9, F8, FBN1, EGF
50calcium44 49 11 2410.5CKM, HNF4A, F9, F8, FBN1, EGF

GO Terms for genes affiliated with Hemophilia B

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Sources:
16Gene Ontology
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Cellular components related to Hemophilia B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic to external side of plasma membraneGO:0312339.8F3, F10
2endoplasmic reticulum lumenGO:0057889.6F2, F7, F10, F9
3Golgi lumenGO:0057969.5F9, F10, F7, F2
4platelet alpha granule lumenGO:0310939.3F8, EGF, PF4, VWF
5extracellular spaceGO:0056158.4CPB2, F8, FBN1, EGF, F11, PF4
6extracellular regionGO:0055768.1F9, F8, FBN1, EGF, F10, F11

Biological processes related to Hemophilia B according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of platelet-derived growth factor receptor signaling pathwayGO:01064110.1F7, F3
2positive regulation of blood coagulationGO:03019410.0F2, F7
3positive regulation of positive chemotaxisGO:0509279.9F3, F7
4blood coagulation, extrinsic pathwayGO:0075989.9F9, F10, F7, F3
5peptidyl-glutamic acid carboxylationGO:0171879.9F2, F7, F10, F9
6positive regulation of protein kinase B signaling cascadeGO:0518979.8F10, F7, F3
7negative regulation of fibrinolysisGO:0519189.7CPB2, F2
8post-translational protein modificationGO:0436879.7F2, F7, F10, F9
9blood coagulation, intrinsic pathwayGO:0075979.5F9, F8, F10, F11, VWF, F2
10platelet degranulationGO:0025769.4VWF, PF4, EGF, F8
11proteolysisGO:0065089.4F9, F10, F11, F7, F2, CPB2
12platelet activationGO:0301689.3F8, EGF, PF4, VWF, F2
13blood coagulationGO:0075967.9CPB2, HNF4A, F9, F8, EGF, F10

Molecular functions related to Hemophilia B according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.2F2, F7, F11, F10, F9
2calcium ion bindingGO:0055099.1FBN1, EGF, F10, F7, F2, F9

Products for genes affiliated with Hemophilia B

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  • Antibodies
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  • Antibodies

Sources for Hemophilia B

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet