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ONTOLOGY REPORT - ANNOTATIONS


Term:coagulation protein disease
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Accession:DOID:2212 term browser browse the term
Definition:Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins.
Synonyms:exact_synonym: Blood Coagulation Factor Deficiencies;   Coagulation Protein Disorder;   Coagulation Protein Disorders;   Coagulation Proteins Disorder;   Coagulation Proteins Disorders
 primary_id: MESH:D020147;   RDO:0004768
For additional species annotation, visit the Alliance of Genome Resources.


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coagulation protein disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggcx gamma-glutamyl carboxylase JBrowse link 4 100,277,345 100,293,097 RGD:1598791
Activated Protein C Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:8554872
RGD:7240710
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11099994
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:11554173
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11554173
congenital afibrinogenemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb11 ATP binding cassette subfamily B member 11 JBrowse link 3 55,480,024 55,587,946 RGD:11554173
G Cfi complement factor I JBrowse link 2 235,264,149 235,305,779 RGD:8554872
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:5688762
RGD:8554872
RGD:11554173
RGD:11040559
RGD:7240710
G Fgb fibrinogen beta chain JBrowse link 2 182,028,044 182,035,026 RGD:737709
RGD:8554872
RGD:7240710
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:737710
RGD:8554872
RGD:11352676
RGD:7240710
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:8554872
G Fgb fibrinogen beta chain JBrowse link 2 182,028,044 182,035,026 RGD:8554872
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:8554872
RGD:11352694
RGD:11352682
RGD:11352681
RGD:11352680
RGD:11352678
RGD:11352675
RGD:11352674
Dysfibrinogenemia, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:7240710
RGD:8554872
G Fgb fibrinogen beta chain JBrowse link 2 182,028,044 182,035,026 RGD:10450765
RGD:7240710
RGD:10450766
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:11352672
RGD:8554872
RGD:7240710
RGD:11352691
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcfd2 multiple coagulation factor deficiency 2 JBrowse link 6 10,887,303 10,899,221 RGD:7240710
RGD:8554872
RGD:11062141
factor V deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:7240710
RGD:8554872
RGD:11564334
G Lman1 lectin, mannose-binding, 1 JBrowse link 18 61,683,377 61,707,344 RGD:1600100
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060145
factor VII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F10 coagulation factor X JBrowse link 16 81,803,169 81,822,476 RGD:8554872
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:1601133
RGD:8554872
RGD:11554173
RGD:11049524
RGD:7240710
factor VIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11041156
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:11041156
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352263
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11041156
G Cfp complement factor properdin JBrowse link X 1,311,121 1,316,683 RGD:11041156
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565076
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:1582357
RGD:8554872
RGD:7245964
RGD:11554173
RGD:11530071
RGD:10450758
RGD:10450757
RGD:7240710
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage RGD:11530071
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb RGD:7245964
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:11554173
RGD:8554872
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11040767
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755564
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11055683
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049183
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:10449409
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11552591
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11041784
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060141
RGD:11060256
RGD:11060147
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11055683
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:11073776
Factor VIII Deficiency, Acquired term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:11554173
factor X deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F10 coagulation factor X JBrowse link 16 81,803,169 81,822,476 RGD:1601104
RGD:8554872
RGD:11041731
RGD:7240710
G F11 coagulation factor XI JBrowse link 16 50,179,458 50,201,644 RGD:8554872
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:8554872
factor XI deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F11 coagulation factor XI JBrowse link 16 50,179,458 50,201,644 RGD:1598923
RGD:8554872
RGD:11041742
RGD:11041741
RGD:7240710
factor XII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:1601107
RGD:8554872
RGD:11041805
RGD:11041772
RGD:11041769
RGD:7240710
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
factor XIII deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13a1 coagulation factor XIII A1 chain JBrowse link 17 28,504,650 28,680,015 RGD:10450726
RGD:8554872
RGD:11554173
RGD:11041869
RGD:10450730
RGD:10450729
RGD:10450727
G F13b coagulation factor XIII B chain JBrowse link 13 56,598,891 56,623,132 RGD:11554173
G Lman1 lectin, mannose-binding, 1 JBrowse link 18 61,683,377 61,707,344 RGD:1600100
Factor Xiii, A Subunit, Deficiency Of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13a1 coagulation factor XIII A1 chain JBrowse link 17 28,504,650 28,680,015 RGD:7240710
RGD:8554872
RGD:11041856
RGD:11041811
Factor XIII, B Subunit, Deficiency Of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F13b coagulation factor XIII B chain JBrowse link 13 56,598,891 56,623,132 RGD:7240710
RGD:8554872
RGD:10450738
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lman1 lectin, mannose-binding, 1 JBrowse link 18 61,683,377 61,707,344 RGD:7240710
RGD:8554872
G Mcfd2 multiple coagulation factor deficiency 2 JBrowse link 6 10,887,303 10,899,221 RGD:8554872
hemophilia B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp11c ATPase phospholipid transporting 11C JBrowse link X 143,340,712 143,525,588 RGD:8554872
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565076
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:8554872
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:9685705
RGD:8554872
RGD:11554173
RGD:10450764
RGD:10450762
RGD:10450761
RGD:10450760
RGD:10450759
RGD:7240710
G LOC688842 hypothetical protein LOC688842 JBrowse link X 143,554,334 143,596,247 RGD:8554872
G Mcf2 MCF.2 cell line derived transforming sequence JBrowse link X 143,159,071 143,292,467 RGD:8554872
G Sox3 SRY-box transcription factor 3 JBrowse link X 144,035,162 144,037,364 RGD:8554872
platelet-type bleeding disorder 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:7240710
RGD:8554872
RGD:10450823
RGD:10450814
RGD:10450803
prothrombin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:1601108
RGD:11554173
RGD:10449425
RGD:10449424
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:2312318
Prothrombin Deficiency, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:7240710
RGD:8554872
RGD:11565075
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggcx gamma-glutamyl carboxylase JBrowse link 4 100,277,345 100,293,097 RGD:7240710
RGD:11040509
RGD:8554872
Quebec platelet disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plau plasminogen activator, urokinase JBrowse link 15 3,644,296 3,650,765 RGD:7240710
RGD:8554872
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:7240710
RGD:1303972
RGD:11554173
RGD:8554872
von Willebrand's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11341671
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:1331525
RGD:8554872
RGD:11079196
von Willebrand's disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:10766468
RGD:11530070
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:10766468
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:11552591
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:7240710
RGD:8554872
RGD:10766468
RGD:11079205
von Willebrand's disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:10766469
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:10766469
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:10766469
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:7240710
RGD:8554872
RGD:10766469
RGD:11079206
RGD:11079203
RGD:11079202
RGD:11079201
RGD:11079200
von Willebrand's disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:7240710
RGD:8554872
RGD:11079204

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      hematopoietic system disease 1451
        blood coagulation disease 468
          coagulation protein disease 50
            Activated Protein C Resistance 4
            Chondrodysplasia Punctata with Coagulation Factor Deficiency 0
            Congenital Plasminogen Deficiency 0
            Dysfibrinogenemia Causing Recurrent Thrombosis 0
            Flood Factor Deficiency 0
            Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
            Tatsumi Factor Deficiency 0
            Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 1
            congenital afibrinogenemia + 5
            factor V deficiency + 5
            factor VII deficiency 2
            factor VIII deficiency + 24
            factor X deficiency 3
            factor XI deficiency 1
            factor XII deficiency 2
            factor XIII deficiency + 3
            hemophilia B 7
            prothrombin deficiency + 2
            von Willebrand's disease + 7
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          blood coagulation disease 468
            coagulation protein disease 50
              Activated Protein C Resistance 4
              Chondrodysplasia Punctata with Coagulation Factor Deficiency 0
              Congenital Plasminogen Deficiency 0
              Dysfibrinogenemia Causing Recurrent Thrombosis 0
              Flood Factor Deficiency 0
              Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
              Tatsumi Factor Deficiency 0
              Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 1
              congenital afibrinogenemia + 5
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 24
              factor X deficiency 3
              factor XI deficiency 1
              factor XII deficiency 2
              factor XIII deficiency + 3
              hemophilia B 7
              prothrombin deficiency + 2
              von Willebrand's disease + 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.