MCID: FCT007
MIFTS: 79

Factor Vii Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Factor Vii Deficiency

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Wikipedia:65 Factor VII (EC 3.4.21.21, blood-coagulation factor VIIa, activated blood coagulation factor VII,... more...

MalaCards based summary: Factor Vii Deficiency, also known as factor 7 deficiency, is related to dubin-johnson syndrome and purpura, and has symptoms including An important gene associated with Factor Vii Deficiency is F7 (coagulation factor VII (serum prothrombin conversion accelerator)), and among its related pathways are Selected targets of C EBPalpha and Selenium Pathway. The drugs recombinant fviia and factor ix,recombinant and the compounds inogatran and rivaroxaban have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and breast, and related mouse phenotypes are embryogenesis and liver/biliary system.

Description from OMIM:46 227500

Aliases & Classifications for Factor Vii Deficiency

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 62UMLS, 20GeneTests, 22GTR, 48Orphanet, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Factor Vii Deficiency, Aliases & Descriptions:

Name: Factor Vii Deficiency 30 8 9 42 46 10 44 62
Factor 7 Deficiency 42 20 22
Hypoproconvertinemia 42 48
Congenital Proconvertin Deficiency 48
 
Congenital Factor Vii Deficiency 48
Deficiency, Stable 8
Stable Disease 44
F7 Deficiency 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
hypoproconvertinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable


External Ids:

Disease Ontology8 DOID:2215
MeSH34 D005168
OMIM46 227500
SNOMED-CT57 37193007, 154820003
ICD10 via Orphanet26 D68.2
UMLS via Orphanet63 C0015503

Related Diseases for Factor Vii Deficiency

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

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1dubin-johnson syndrome31.2ABCC2
2purpura30.9SERPINC1
3dysfibrinogenemia30.6F2, SERPINC1, F5
4cardiac tamponade30.6F8
5homocystinuria30.5SERPINC1, F5
6hemophilia b30.3F8, F3, F10, F9, F2, F7
7pulmonary embolism30.1F5, F3, SERPINC1, F10, F9, F2
8atherosclerosis29.9SERPINC1, F3, HNF4A, GLA, GGT1, F7
9sepsis29.9F2, F9, F10, SERPINC1, F3, F5
10thromboembolism29.6F7, F5, F8, F3, SERPINC1, F10
11venous thrombosis29.5SERPINC1, F10, F9, F2, F3, F8
12lung cancer29.4ABCC2, F10, PSG1, HNF4A, EGF
13factor viii deficiency29.4F5, F8, F3, SERPINC1, F10, F9
14thrombocytopenia29.3F2, F9, F10, SERPINC1, F3, F8
15hepatitis28.8F2, ABCC2, F9, F10, F8, HNF4A
16hemophilia10.6
17carotid artery thrombosis10.6F3
18sneddon syndrome10.6SERPINC1
19central retinal vein occlusion10.5F5
20glanzmann's thrombasthenia10.5F7
21warfarin sensitivity10.5F9
22hemorrhagic disease10.5F9
23branch retinal artery occlusion10.5F5
24hypersplenism10.5F2
25homocysteinemia10.5F5
26coronary thrombosis10.4F3, SERPINC1
27cerebritis10.4
28inherited hypoprothrombinemia10.4F2, F10
29factor xii deficiency10.4F3, F5
30eclampsia10.4SERPINC1
31sagittal sinus thrombosis10.4SERPINC1, F5
32choledocholithiasis10.4GGT1
33post-thrombotic syndrome10.4SERPINC1, F5
34legg-calve-perthes disease10.4SERPINC1, F5
35placental abruption10.4SERPINC1, F5
36aneurysm10.4
37hepatic vein thrombosis10.4SERPINC1, F5
38retinal vein occlusion10.4SERPINC1, F5
39severe pre-eclampsia10.3SERPINC1, F5
40thrombophlebitis10.3F8
41meningococcemia10.3SERPINC1, F5
42quebec platelet disorder10.3F10, F5
43cholangitis10.3GGT1
44hellp syndrome10.3SERPINC1, F5
45stroke, ischemic10.3F7, F5, F2
46prothrombin deficiency10.3F2, SERPINC1, F5
47blood protein disease10.3F2, SERPINC1, F5
48abdominal aortic aneurysm10.3
49aortic aneurysm10.3
50arthropathy10.3

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



Diseases related to factor vii deficiency

Symptoms for Factor Vii Deficiency

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Symptoms by clinical synopsis from OMIM:

227500

Clinical features from OMIM:

227500

HPO human phenotypes related to Factor Vii Deficiency:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 menorrhagia HP:0000132
3 epistaxis HP:0000421
4 intracranial hemorrhage HP:0002170
5 variable expressivity HP:0003828
6 joint hemorrhage HP:0005261
7 reduced factor vii activity HP:0008169
8 intramuscular hematoma HP:0012233

Drugs & Therapeutics for Factor Vii Deficiency

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Genetic Tests for Factor Vii Deficiency

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Genetic tests related to Factor Vii Deficiency:

id Genetic test Affiliating Genes
1 Factor Vii Deficiency20 22 F7

Anatomical Context for Factor Vii Deficiency

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MalaCards organs/tissues related to Factor Vii Deficiency:

32
Liver, Heart, Breast, Testes, Bone marrow, Bone, Brain, Myeloid

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Factor Vii Deficiency:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate

Animal Models for Factor Vii Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Factor Vii Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.7HNF4A, F3, SERPINC1, F9, F2, F5
2MP:00053708.4ABCC2, GLA, F5, HNF4A, SERPINC1, F9
3MP:00053858.1F2, F9, F7, GLA, F5, F3
4MP:00053898.1GGT1, F8, SERPINC1, F10, F2, EGF
5MP:00053877.5F2, F9, SERPINC1, F3, F8, GLA
6MP:00053977.4F2, GGT1, F8, SERPINC1, F9, ABCC2
7MP:00107686.7F9, GFM1, F10, F7, GGT1, F5
8MP:00053766.2F10, SERPINC1, F3, F8, HNF4A, F5

Publications for Factor Vii Deficiency

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Articles related to Factor Vii Deficiency:

(show top 50)    (show all 338)
idTitleAuthorsYear
1
A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a pedigree: a description of two cases. (23672839)
2013
2
Is prophylaxis required for delivery in women with factor VII deficiency? (23607277)
2013
3
Congenital Factor VII Deficiency in Children at Tertiary Health Care Facility in Pakistan. (24322277)
2013
4
Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site. (22628013)
2012
5
Is the coexistence of thromboembolic events and Factor VII deficiency fortuitous? (23026661)
2012
6
Mutation in the factor VII hepatocyte nuclear factor 4I+-binding site contributes to factor VII deficiency. (21760481)
2011
7
Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII deficiency: a study in homozygotes and heterozygotes. (21902896)
2011
8
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)". (20391303)
2010
9
Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree. (19601987)
2009
10
Clinical management of thrombosis in inherited factor VII deficiency: a description of two cases. (19190828)
2009
11
Acquired factor VII deficiency associated with Wilms tumor. (19137513)
2009
12
Factor VII Deficiency. (19598068)
2009
13
U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency. (18156490)
2008
14
Successful coronary artery bypass graft surgery in severe congenital factor VII deficiency: perioperative treatment with factor VII concentrate. (17938818)
2007
15
The use of recombinant activated factor VII in the circumcision operation in the case of a congenital factor VII deficiency. (17473581)
2007
16
Bleeding prophylaxis in a child with cleft palate and factor VII deficiency: a case report. (16405366)
2006
17
Life-threatening bleeding in a patient with a lupus inhibitor and probable acquired factor VII deficiency. (17102654)
2006
18
Visually disabling non-traumatic orbital hemorrhage in an anticoagulated patient with factor VII deficiency. (16518172)
2006
19
Inhibitor to factor VII in severe factor VII deficiency: detection and course of the inhibitory response. (15842376)
2005
20
The significance of published polymorphisms in 14 cases of mild factor VII deficiency. (15741795)
2005
21
Mild factor VII deficiency due to heterozygosis is not associated with a bleeding tendency. (16093739)
2005
22
Severe menorrhagia due to factor VII deficiency successfully treated by thermal balloon endometrial ablation. (12555005)
2003
23
Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications. (12935978)
2003
24
Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency. (11869950)
2002
25
Factor VII deficiency and a copper metabolism disorder in a patient with Klippel-Trenaunay syndrome. (12037456)
2002
26
Acquired factor VII deficiency in hematopoietic stem cell transplant recipients. (11919730)
2002
27
Prophylactic therapy in a pregnant woman with severe factor VII deficiency. (11093053)
2000
28
Two novel factor VII gene mutations in a Chinese family with factor VII deficiency. (11091194)
2000
29
Factor VII deficiency in a mixed breed dog. (10416073)
1999
30
Postoperative bleeding with factor VII deficiency: case report. (9973704)
1998
31
Acquired isolated factor VII deficiency during sepsis. (9212352)
1997
32
Successful excision of hemorrhagic cavernous angioma in a patient with severe factor VII deficiency: perioperative treatment with factor VII concentrate. (9085292)
1997
33
Fatal intracranial hemorrhage in a newborn with factor VII deficiency. (8701495)
1996
34
Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. (8883260)
1996
35
Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor. (8204879)
1994
36
Intracranial hemorrhage in an adult with factor-VII deficiency. (8250020)
1994
37
Hereditary factor VII deficiency in pregnancy: peripartum treatment with factor VII concentrate. (1566745)
1992
38
Acquired bleeding disorder in a patient with congenital factor VII deficiency. (1912032)
1991
39
Factor VII clotting assay: influence of different thromboplastins and factor VII-deficient plasmas. CISMEL Study Group. (2053102)
1991
40
Recurrent intracranial hemorrhage in an infant with congenital factor VII deficiency. (3114082)
1987
41
Carriers of factor VII deficiency are not always asymptomatic. (3830535)
1985
42
Congenital factor VII deficiency and cerebrovascular stroke. (2865471)
1985
43
Hereditary Factor VII deficiency in newborns. (6617058)
1983
44
Hemophilia B with associated factor VII deficiency: a distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen. (7370439)
1980
45
Congenital factor VII deficiency presenting as iron deficiency anaemia--Case report. (522751)
1979
46
Intracranial hemorrhage in congenital factor VII deficiency. (423024)
1979
47
Bloody tears due to congenital factor VII deficiency. (677644)
1978
48
Treatment of congenital factor VII deficiency with a new concentrate. (705696)
1978
49
Hereditary factor VII deficiency and increased contact activation time. (868799)
1977
50
Congenital factor VII deficiency. Two cases in children of cousins. (5769051)
1969

Variations for Factor Vii Deficiency

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

64 (show all 107)
id Symbol AA change Variation ID SNP ID
1F7p.Arg139LysVAR_006497
2F7p.Arg139GlnVAR_006498rs150525536
3F7p.Arg139TrpVAR_006499
4F7p.Gly157SerVAR_006500
5F7p.Gly157CysVAR_006501
6F7p.Gln160ArgVAR_006502
7F7p.Pro194ThrVAR_006503
8F7p.Lys197GluVAR_006504
9F7p.Arg212GlnVAR_006505
10F7p.Cys238TyrVAR_006506
11F7p.Arg283TrpVAR_006507
12F7p.Ala304ValVAR_006508
13F7p.Arg307HisVAR_006509
14F7p.Glu325LysVAR_006510
15F7p.Ala354ValVAR_006511rs36209567
16F7p.Met358IleVAR_006512
17F7p.Met358ValVAR_006513
18F7p.Arg364GlnVAR_006514rs121964926
19F7p.Cys370PheVAR_006515
20F7p.Gly402ArgVAR_006516
21F7p.Gly402GluVAR_006517
22F7p.Thr419MetVAR_006519
23F7p.Leu13ProVAR_014391
24F7p.Cys389GlyVAR_014392
25F7p.Leu73GlnVAR_014405rs45572939
26F7p.Glu79GlnVAR_014406
27F7p.Cys121PheVAR_014407
28F7p.Leu125ProVAR_014408
29F7p.Tyr128CysVAR_014409
30F7p.Cys151SerVAR_014410
31F7p.Gly157ValVAR_014411
32F7p.Cys195ArgVAR_014412
33F7p.Thr241AsnVAR_014413
34F7p.Asp302HisVAR_014414
35F7p.Asp302AsnVAR_014415
36F7p.Ala304ThrVAR_014416
37F7p.Arg307CysVAR_014417
38F7p.Thr332MetVAR_014418
39F7p.Gly391SerVAR_014419rs190485816
40F7p.Gly435GluVAR_014420
41F7p.Phe64LeuVAR_015135
42F7p.Ser120ProVAR_015136
43F7p.Glu154LysVAR_015137rs146795869
44F7p.Gly216AspVAR_015138
45F7p.Cys254TyrVAR_015139
46F7p.Ala266ThrVAR_015140
47F7p.Val312MetVAR_015141
48F7p.Val341PheVAR_015142
49F7p.Pro363ArgVAR_015143
50F7p.Asp403HisVAR_015144
51F7p.Cys82PheVAR_065370
52F7p.Cys82ArgVAR_065371
53F7p.Glu85LysVAR_065373
54F7p.Arg88GlyVAR_065374
55F7p.Arg88ProVAR_065375
56F7p.Asn117AspVAR_065376
57F7p.Gly138AspVAR_065377
58F7p.Gly156SerVAR_065378
59F7p.Ser171PheVAR_065379
60F7p.Gly177ArgVAR_065380
61F7p.Leu181ProVAR_065381
62F7p.Asp183AsnVAR_065382
63F7p.Ser186PheVAR_065383
64F7p.Pro189SerVAR_065384
65F7p.Pro194LeuVAR_065385
66F7p.Ile198ThrVAR_065386
67F7p.Gly240ArgVAR_065387
68F7p.Ser250PheVAR_065388
69F7p.Ala251ProVAR_065389
70F7p.Ala251ThrVAR_065390
71F7p.Cys254ArgVAR_065391
72F7p.Leu264ProVAR_065392
73F7p.Asp272AsnVAR_065393
74F7p.Asp277AsnVAR_065394
75F7p.Thr298IleVAR_065395
76F7p.His301GlnVAR_065396
77F7p.Leu314ValVAR_065397
78F7p.Leu321PheVAR_065398
79F7p.Leu323ArgVAR_065399
80F7p.Arg326GlnVAR_065400
81F7p.Arg337CysVAR_065401
82F7p.Gly343SerVAR_065402
83F7p.Trp344ArgVAR_065403
84F7p.Gly345SerVAR_065404
85F7p.Arg350CysVAR_065405
86F7p.Leu360ProVAR_065406
87F7p.Pro363HisVAR_065407
88F7p.Arg364TrpVAR_065408
89F7p.Arg375TrpVAR_065409rs137919286
90F7p.Thr384MetVAR_065410
91F7p.Met387ThrVAR_065411
92F7p.Met387ValVAR_065412
93F7p.Phe388SerVAR_065413
94F7p.Gly391CysVAR_065414
95F7p.Asp398GluVAR_065415
96F7p.Lys401GluVAR_065416
97F7p.Ser404AsnVAR_065417
98F7p.His408GlnVAR_065418rs121964936
99F7p.His408ArgVAR_065419
100F7p.Arg413GlyVAR_065420
101F7p.Gly414CysVAR_065421
102F7p.Val422PheVAR_065422
103F7p.Gly425AlaVAR_065423
104F7p.Gly425CysVAR_065424
105F7p.Ala429ThrVAR_065425
106F7p.Gly432AspVAR_065426
107F7p.Tyr437PheVAR_065427

Clinvar genetic disease variations for Factor Vii Deficiency:

6 (show all 21)
id Gene Name Type Significance SNP ID Assembly Location
1F7F7, CYS310PHEsingle nucleotide variantPathogenic
2F7F7, CYS178TYRsingle nucleotide variantPathogenic
3F7F7, ARG247HISsingle nucleotide variantPathogenic
4F7F7, THR359METundetermined variantPathogenic
5F7F7, ALA244VALsingle nucleotide variantPathogenic
6F7F7, ASN57ASPsingle nucleotide variantPathogenic
7F7F7, IVS4DS, G-A, +1single nucleotide variantPathogenic
8F7NM_000131.4(F7): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs387906507GRCh37Chr 13, 113760193: 113760193
9F7NM_000131.4(F7): c.1061C> T (p.Ala354Val)single nucleotide variantPathogenicrs36209567GRCh37Chr 13, 113772982: 113772982
10F7F7, 17-BP DELdeletionPathogenic
11F7F7, 1-BP DEL, 11128CdeletionPathogenic
12F7F7, -61T-Gsingle nucleotide variantPathogenic
13F7F7, -94C-Gsingle nucleotide variantPathogenic
14F7F7, -55C-Tsingle nucleotide variantPathogenic
15F7F7, CYS61TERundetermined variantPathogenic
16F7F7, CYS329GLYundetermined variantPathogenic
17F7NM_000131.4(F7): c.628C> T (p.Gln210Ter)single nucleotide variantPathogenicrs267606790GRCh37Chr 13, 113771136: 113771136
18F7F7, GLU25LYSundetermined variantPathogenic
19F7F7, HIS348GLNundetermined variantPathogenic
20F7F7, GLY354CYSundetermined variantPathogenic
21F7NM_000131.4(F7): c.983T> C (p.Phe328Ser)single nucleotide variantPathogenicrs387906508GRCh37Chr 13, 113772904: 113772904

Expression for genes affiliated with Factor Vii Deficiency

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Expression patterns in normal tissues for genes affiliated with Factor Vii Deficiency

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

Pathways for genes affiliated with Factor Vii Deficiency

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Pathways related to Factor Vii Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9SERPINC1, F9
2
Show member pathways
thioredoxin pathway37
9.5F7, GGT1, F2
3
Show member pathways
9.4F2, F9, F10, F7
4
Show member pathways
9.2F8, EGF, F5
5
Show member pathways
7.8F2, F7, F5, F8, F3, SERPINC1
6
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
7.8F7, F5, F8, F3, SERPINC1, F10
7
Show member pathways
7.8F5, F7, F2, F9, F10, SERPINC1
8
Show member pathways
7.5F7, F2, EGF, F5, F9, F10

Compounds for genes affiliated with Factor Vii Deficiency

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Compounds related to Factor Vii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 195)
idCompoundScoreTop Affiliating Genes
1inogatran449.6F2, SERPINC1, F3, F5
2rivaroxaban44 1110.6F2, F10, SERPINC1, F3
3phenprocoumon44 50 1111.5F2, F9, SERPINC1, F3
4acenocoumarol44 50 1111.5F2, F9, F3, F5
5ancrod449.5F2, F10, SERPINC1, F5
6organon449.5F2, F9, F10, SERPINC1, F3
7spectrozyme449.4SERPINC1, F3, F5, F10, F2
8ecarin449.4F5, F3, SERPINC1, F10, F2
9levonorgestrel44 61 28 1112.4F2, SERPINC1, F3, F5, F7
10danaparoid449.4F2, F10, SERPINC1, F3, F5
11ximelagatran44 1110.4F2, F10, SERPINC1, F3, F5
12coumarins449.4F2, F9, F10, F3, F5
13heparinoids449.4F2, F10, SERPINC1, F3, F5
14bivalirudin44 1110.4F2, F10, SERPINC1, F3, F5
15argatroban44 1110.4F2, F10, SERPINC1, F3, F5
16protamine sulfate449.3F2, F10, SERPINC1, F3, F5
17ppack449.2F2, F10, SERPINC1, F3
18tranexamic acid44 1110.2F2, F9, SERPINC1, F3, F8
19rfviii449.2F9, F10, F8, F5
20kininogen449.1F2, F9, SERPINC1, F3, F5, F7
21protamine449.1F2, F10, SERPINC1, F3, F5
22hydroxyethyl starch449.1F2, SERPINC1, F3, F8
23fondaparinux449.1F5, F2, F9, F10, SERPINC1, F3
24coumarin44 2 50 2412.1F2, F9, F10, SERPINC1, F3, F5
25dermatan sulfate449.0F2, F9, F10, SERPINC1, F3, F5
26aprotinin44 1110.0F2, F9, F10, SERPINC1, F3, F5
27cacl2448.9F9, F10, F3, F8, F5
28dextran sulfate448.9F9, F10, SERPINC1, F3, F5
29cardiolipin44 119.9F2, F10, F3, F8, F5
30ristocetin448.8F2, F9, SERPINC1, F3, F5, F8
31desmopressin44 61 28 1111.8F2, F9, SERPINC1, F3, F8, F5
32kaolin448.8F2, F9, F10, F3, F8, F5
33homocysteine44 249.6F2, F9, SERPINC1, F3, F8, F5
34menadione44 24 1110.6F2, F9, F10, GGT1, F7
35hirudin448.5F9, F10, SERPINC1, F3, F8, F5
36citrate448.4F2, F9, F10, SERPINC1, F3, F8
37aspirin44 50 28 2411.4F2, F10, SERPINC1, F3, F8, HNF4A
38phosphatidylserine44 28 1110.4F5, F8, F3, F10, F9, F2
39warfarin44 50 24 1111.3F2, F9, F10, SERPINC1, F3, F8
40fibrinogen448.2F2, F9, F10, SERPINC1, F3, F8
41gamma-carboxyglutamic acid448.0F2, F9, GFM1, F10, F3, F5
42acetaminophen44 2 50 24 1112.0F2, ABCC2, F9, F10, F8, F5
43phospholipid447.8F2, F9, GFM1, F10, F3, F8
44heparin44 28 24 1110.6F2, F9, F10, SERPINC1, F3, F8
45aspartate447.6F2, F9, F10, F3, F8, F5
46alanine447.5F2, F9, F10, SERPINC1, F3, F8
47estrogen447.4F2, ABCC2, F9, F10, SERPINC1, F8
48creatinine447.1F7, GGT1, GLA, F5, F8, F3
49arginine447.1ABCC2, F9, F10, SERPINC1, F8, HNF4A
50serine446.3F10, SERPINC1, F3, F8, HNF4A, F5

GO Terms for genes affiliated with Factor Vii Deficiency

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Cellular components related to Factor Vii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of external side of plasma membraneGO:0312339.9F3, F10
2Golgi lumenGO:0057969.4F7, F10, F9, F2
3endoplasmic reticulum lumenGO:0057889.3F9, F7, F10, F2
4platelet alpha granule lumenGO:0310938.9EGF, F5, F8
5extracellular spaceGO:0056158.1F3, F5, F2, EGF, F7, SERPINC1
6extracellular regionGO:0055766.7F7, F2, F9, F10, SERPINC1, PSG1
7plasma membraneGO:0058866.6EGF, GGT1, F5, F8, F3, SERPINC1

Biological processes related to Factor Vii Deficiency according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of platelet-derived growth factor receptor signaling pathwayGO:01064110.2F3, F7
2positive regulation of positive chemotaxisGO:05092710.0F3, F7
3positive regulation of blood coagulationGO:0301949.9F2, F7
4positive regulation of protein kinase B signalingGO:0518979.8F3, F10, F7
5blood coagulation, extrinsic pathwayGO:0075989.6F7, F3, F10, F9
6peptidyl-glutamic acid carboxylationGO:0171879.6F2, F9, F7, F10
7proteolysisGO:0065089.6F2, F9, F10, F7
8post-translational protein modificationGO:0436879.6F7, F2, F9, F10
9cellular protein metabolic processGO:0442679.4F10, F2, F7, F9
10positive regulation of cell migrationGO:0303359.3F10, F3, F7
11platelet degranulationGO:0025769.2EGF, F5, F8
12blood coagulation, intrinsic pathwayGO:0075979.2F2, F9, F10, F8
13platelet activationGO:0301689.1F2, F8, EGF, F5
14blood coagulationGO:0075967.5F3, F8, HNF4A, F5, EGF, F7

Molecular functions related to Factor Vii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055099.1F7, EGF, F10, F9, F2
2receptor bindingGO:0051029.0F2, HNF4A, GLA, F7
3serine-type endopeptidase activityGO:0042528.4F7, F5, F8, F10, F9, F2
4protein bindingGO:0055155.5SERPINC1, F10, GFM1, ABCC2, F2, F3

Products for genes affiliated with Factor Vii Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Factor Vii Deficiency

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet