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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Coagulation Protein Disorders
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Accession:DOID:9004931 term browser browse the term
Definition:Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins.
Synonyms:exact_synonym: Coagulation Protein Disorder;   Coagulation Protein Disorders;   blood coagulation factor deficiencies;   coagulation protein disease;   coagulation proteins disorder
 primary_id: MESH:D020147
 alt_id: DOID:2212
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Coagulation Protein Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggcx gamma-glutamyl carboxylase ISO RGD PMID:9845520 RGD:1598791 NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
JBrowse link
autosomal hemophilia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:29357978 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
combined deficiency of vitamin K-dependent clotting factors 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, 2
DNA:missense mutation: :p.R98W (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:607473
OMIM
ClinVar
CTD
PMID:11154138 PMID:14765194 PMID:15358623 PMID:15883587 PMID:16270629 PMID:16270630 PMID:16611750 PMID:16676068 PMID:16879214 PMID:16890578 PMID:17049586 PMID:17110455 PMID:17189218 PMID:18252229 PMID:18466099 PMID:19344422 PMID:20128861 PMID:20653676 PMID:21127708 PMID:21326313 PMID:21635147 PMID:22349464 PMID:22676192 PMID:22871975 PMID:22992668 PMID:23039877 PMID:23208322 PMID:23571513 PMID:23990957 PMID:24019055 PMID:24838629 PMID:25084205 PMID:25126975 PMID:25519826 PMID:25594941 PMID:25741868 PMID:28492532, PMID:14765194 RGD:1303972 NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
JBrowse link
congenital afibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120137 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Afibrinogenemia ClinVar PMID:849647 PMID:8613545 PMID:12562389 PMID:17018561 PMID:25741868 PMID:25988862 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by OMIM:202400
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds: (human)
ClinVar
CTD
OMIM
PMID:1391954 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:4052020 PMID:6191801 PMID:7298640 PMID:10602365 PMID:10891444 PMID:10910940 PMID:12358944 PMID:12871326 PMID:14615374 PMID:16362348 PMID:19420351 PMID:25741868 PMID:27164460 PMID:28492532 PMID:31064749, PMID:15795544, PMID:10602365 RGD:5688762, RGD:11040559 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia, congenital
ClinVar Annotator: match by OMIM:202400
ClinVar
OMIM
PMID:1565641 PMID:3194892 PMID:10666208 PMID:10688828 PMID:11468164 PMID:12161363 PMID:12393540 PMID:12573244 PMID:15070683 PMID:15795540 PMID:19420351 PMID:21713329 PMID:22273812 PMID:24033266 PMID:25592583 PMID:25741868 PMID:27164460 PMID:28492532 PMID:31064749, PMID:12393540 RGD:737709 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:snp:intron:IVS3+5G>A (human)
ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by OMIM:202400
DNA:nonsense mutation:exon:p.R134X (human)
ClinVar
OMIM
PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 PMID:3337908 PMID:3563970 PMID:4002201 PMID:6654188 PMID:6886002 PMID:7635941 PMID:10688828 PMID:11001902 PMID:11001903 PMID:11019970 PMID:11435303 PMID:16144795 PMID:17854317 PMID:23560673 PMID:24033266 PMID:24556703 PMID:25320241 PMID:25741868 PMID:28492532 PMID:31064749, PMID:11001903, PMID:15284111 RGD:737710, RGD:11352676 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
Congenital Dysfibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: FIBRINOGEN PETOSKEY
ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1
ClinVar Annotator: match by term: Dysfibrinogenemia
OMIM
ClinVar
PMID:1912564 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:3667568 PMID:4052020 PMID:4082078 PMID:6191801 PMID:6667926 PMID:7298640 PMID:8140431 PMID:11435303 PMID:11460527 PMID:16846481 PMID:25741868 PMID:31064749 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO DNA:mutation:missense mutation:g.g.9692A>G(human)
ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
DNA:nonsense mutation:cds:p.w467X(human)
ClinVar
OMIM
PMID:25741868, PMID:24711018, PMID:12511408 RGD:10450765, RGD:10450766 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:deletion:intron:IVS9+1delG (human)
DNA:missense mutation:exon:p.N308T (c.1001A>C) (human)
OMIM PMID:25551304, PMID:24482809 RGD:11352672, RGD:11352691 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital ClinVar PMID:10891444 PMID:14615374 PMID:25741868 PMID:31064749 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: FIBRINOGEN NIJMEGEN
ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2
ClinVar Annotator: match by term: FIBRINOGEN LONGMONT
ClinVar PMID:1565641 PMID:3194892 PMID:11468164 PMID:25741868 PMID:31064749 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hypodysfibrinogenemia
ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1
ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2
DNA:frameshift mutation: :c.554delA (human)
DNA:missense mutations: :p.D316N, p.G366S (human)
DNA:missense mutation: :p.S313N (7590G>A) (human)
DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human)
DNA:missense mutation:exon:p.T277R (7482G>C) (human)
DNA:missense mutation:exon:p.A341D (human
DNA:missense mutation:exon:p.R375W (human)
ClinVar PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 PMID:3337908 PMID:3563970 PMID:4002201 PMID:6654188 PMID:6886002 PMID:7635941 PMID:11344575 PMID:15632207 PMID:25741868 PMID:31064749, PMID:23560673, PMID:26039544, PMID:16607083, PMID:24914742, PMID:23492915, PMID:16959688, PMID:12198657 RGD:11352694, RGD:11352682, RGD:11352681, RGD:11352680, RGD:11352678, RGD:11352675, RGD:11352674 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
Congenital Prothrombin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO ClinVar Annotator: match by term: Prothrombin deficiency, congenital
ClinVar Annotator: match by term: Prolonged prothrombin time
ClinVar Annotator: match by term: Hereditary factor II deficiency disease
DNA:deletion, missense mutations:cds:
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613679
OMIM
ClinVar
PMID:444582 PMID:625142 PMID:1349838 PMID:1421398 PMID:1557383 PMID:2222810 PMID:2429850 PMID:2719946 PMID:3242619 PMID:3567158 PMID:3771562 PMID:3801671 PMID:6085205 PMID:6305407 PMID:6405779 PMID:7740448 PMID:8696333 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:10651742 PMID:11154146 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:12149217 PMID:13217497 PMID:13228032 PMID:14489469 PMID:15059842 PMID:15534175 PMID:16487178 PMID:16493002 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19598065 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 PMID:31064749, PMID:11154146 RGD:11565075 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by OMIM:613625
DNA:missense mutation: :p.D122V (human)
ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2
OMIM
ClinVar
PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749, PMID:17610559 RGD:11062141 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
factor V deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Factor V deficiency
ClinVar Annotator: match by term: PARAHEMOPHILIA
ClinVar Annotator: match by OMIM:227400
DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 PMID:7968118 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9459326 PMID:9488630 PMID:9518910 PMID:9576178 PMID:9694743 PMID:9734642 PMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:10942390 PMID:11018168 PMID:11110695 PMID:11418372 PMID:11435304 PMID:11564077 PMID:11686338 PMID:11781258 PMID:11950065 PMID:12069454 PMID:12070000 PMID:12393490 PMID:12421138 PMID:12816860 PMID:14996674 PMID:15208046 PMID:15534175 PMID:15638861 PMID:15946211 PMID:16246256 PMID:16476093 PMID:16493002 PMID:16769590 PMID:16931580 PMID:19486170 PMID:19652888 PMID:19900106 PMID:20051284 PMID:20735394 PMID:21116184 PMID:21774968 PMID:22044617 PMID:22992668 PMID:23382263 PMID:23900608 PMID:24033266 PMID:25741868 PMID:26251307 PMID:28492532 PMID:28750087 PMID:31064749, PMID:11564077 RGD:11564334 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300
ClinVar Annotator: match by term: Factor V deficiency
ClinVar PMID:25741868, PMID:9546392 RGD:1600100 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
factor VII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Factor VII deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F7 coagulation factor VII ISO DNA:missense:R304Q, C310F
ClinVar Annotator: match by term: Factor VII deficiency
ClinVar Annotator: match by term: Factor VII Padua
ClinVar Annotator: match by OMIM:227500
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, insertion:exon:p.R277C, g.11520-11521insT (human)
ClinVar
CTD
OMIM
PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7974346 PMID:7981691 PMID:8242057 PMID:8244334 PMID:8364544 PMID:8652821 PMID:8883260 PMID:8940045 PMID:8978290 PMID:9414278 PMID:9576180 PMID:9716591 PMID:10862079 PMID:10984565 PMID:11091194 PMID:11110717 PMID:11129332 PMID:11139238 PMID:11529858 PMID:11931672 PMID:12181036 PMID:12472587 PMID:12903033 PMID:12935978 PMID:15142120 PMID:15456489 PMID:15735798 PMID:18282149 PMID:18976247 PMID:19751712 PMID:20040857 PMID:20735728 PMID:20885134 PMID:20958793 PMID:21902896 PMID:22180436 PMID:22873696 PMID:24033266 PMID:25582404 PMID:25741868 PMID:25828579 PMID:25952977 PMID:26105150 PMID:28492532 PMID:31064749, PMID:1634227, PMID:26083983 RGD:1601133, RGD:11049524 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11776297 RGD:11352263 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:1,311,121...1,316,683
Ensembl chr  X:1,311,121...1,316,682
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII treatment ISO
IAGP
IMP
ClinVar Annotator: match by term: Factor VIII deficiency, congenital
ClinVar Annotator: match by term: Hemophilia A, congenital
ClinVar Annotator: match by term: Hemophilia A, FVIII Deficiency
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:306700
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple
ClinVar
CTD
OMIM
PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1412186 PMID:1523102 PMID:1559571 PMID:1569180 PMID:1569181 PMID:1639429 PMID:1643024 PMID:1671991 PMID:1840568 PMID:1851341 PMID:1908096 PMID:1908817 PMID:1923751 PMID:1924291 PMID:1969840 PMID:1973901 PMID:1979502 PMID:2104741 PMID:2104766 PMID:2105106 PMID:2105906 PMID:2106480 PMID:2107542 PMID:2109644 PMID:2110545 PMID:2121026 PMID:2121641 PMID:2125022 PMID:2159433 PMID:2473810 PMID:2493803 PMID:2495245 PMID:2498882 PMID:2506948 PMID:2510835 PMID:2563431 PMID:2567219 PMID:2831458 PMID:2833855 PMID:2835307 PMID:2861360 PMID:2887317 PMID:2901224 PMID:2907841 PMID:2986011 PMID:2987704 PMID:2993888 PMID:3035554 PMID:3097553 PMID:3122181 PMID:3131627 PMID:6253938 PMID:6438527 PMID:7579394 PMID:7662970 PMID:7728145 PMID:7794769 PMID:7959679 PMID:7984443 PMID:8011517 PMID:8052958 PMID:8054459 PMID:8069313 PMID:8281136 PMID:8307558 PMID:8322269 PMID:8449505 PMID:8485051 PMID:8490618 PMID:8497853 PMID:8547094 PMID:8576960 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9184393 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9594277 PMID:9792405 PMID:9829908 PMID:9886318 PMID:10215414 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10609755 PMID:10896236 PMID:10910910 PMID:10910913 PMID:11102988 PMID:11110718 PMID:11189482 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11554935 PMID:11713379 PMID:11748850 PMID:11843836 PMID:11857744 PMID:11858487 PMID:11918545 PMID:12139751 PMID:12204009 PMID:12351418 PMID:12406074 PMID:12871415 PMID:12884004 PMID:15471879 PMID:15569173 PMID:15625837 PMID:15710596 PMID:15735794 PMID:15741993 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16051741 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17209060 PMID:17222201 PMID:17445092 PMID:17498081 PMID:17550859 PMID:17610549 PMID:17610560 PMID:18034822 PMID:18184865 PMID:18217193 PMID:18371163 PMID:18387975 PMID:18403393 PMID:18479430 PMID:18565236 PMID:18600086 PMID:18691168 PMID:19369668 PMID:19377476 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719548 PMID:19719828 PMID:19740093 PMID:20028422 PMID:20102490 PMID:20108389 PMID:20193250 PMID:20300295 PMID:20301578 PMID:20331753 PMID:20331761 PMID:20431853 PMID:20533009 PMID:20800587 PMID:21070499 PMID:21217077 PMID:21371196 PMID:21462120 PMID:21645180 PMID:21645224 PMID:21645226 PMID:21689372 PMID:21751985 PMID:21838755 PMID:21883705 PMID:22103590 PMID:23534532 PMID:23625609 PMID:23711237 PMID:23809411 PMID:23812942 PMID:23913812 PMID:23961341 PMID:23963097 PMID:24033266 PMID:24086941 PMID:24108539 PMID:24118398 PMID:24134483 PMID:24953131 PMID:25326637 PMID:25708597 PMID:25741868 PMID:25948085 PMID:26383047 PMID:26879396 PMID:26897466 PMID:27292088 PMID:28492532 PMID:29296726 PMID:31064749 PMID:32581362, PMID:16786531, PMID:20626616, PMID:24931420, PMID:10612839, PMID:10468616 RGD:1582357, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:24931420 RGD:11530071
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Hemophilia A ClinVar NCBI chr 1:147,021,436...147,022,950
Ensembl chr 1:147,021,436...147,022,950
JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemophilia A
CTD
ClinVar
PMID:1346975 PMID:1680287 PMID:1864609 PMID:1873221 PMID:1968152 PMID:2066105 PMID:2087690 PMID:2198809 PMID:2220823 PMID:2472424 PMID:2752109 PMID:2773937 PMID:2929599 PMID:3181127 PMID:5298508 PMID:6603618 PMID:7482402 PMID:7873393 PMID:8055323 PMID:8091381 PMID:8257988 PMID:8314564 PMID:8320491 PMID:8470048 PMID:8680410 PMID:8772212 PMID:9222764 PMID:9450791 PMID:10094553 PMID:10595634 PMID:10698280 PMID:10739381 PMID:11122099 PMID:11328285 PMID:12588353 PMID:15569175 PMID:15921378 PMID:16051741 PMID:16643212 PMID:19699296 PMID:22103590 PMID:22544209 PMID:22639855 PMID:23093250 PMID:25326637 PMID:25741868 PMID:28492532 PMID:29993188 PMID:31064749 PMID:32581362 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2563431 NCBI chr18:401,878...407,954
Ensembl chr18:402,295...407,954
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 treatment ISO DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) RGD PMID:20082647 RGD:11049183 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association
ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)
RGD PMID:22411997, PMID:22411997 RGD:10449409, RGD:10449409 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO RGD PMID:9157572 RGD:11041784 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:24263002, PMID:24687919, PMID:22355108 RGD:11060141, RGD:11060256, RGD:11060147 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:25955153 RGD:11073776 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Factor VIII Deficiency, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO CTD Direct Evidence: therapeutic CTD PMID:11886462 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
factor X deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X ISO DNA:point mutations:R366C;DNA:frameshift
ClinVar Annotator: match by term: Factor X deficiency
ClinVar Annotator: match by OMIM:227600
DNA:deletion:cds:c.302delG(human)
ClinVar
OMIM
PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:7669671 PMID:7860069 PMID:8449937 PMID:8845463 PMID:8910490 PMID:10468877 PMID:10746568 PMID:10984565 PMID:12181036 PMID:25582404 PMID:25741868 PMID:26879396 PMID:28492532 PMID:29590070 PMID:31064749, PMID:2790181, PMID:22008904 RGD:1601104, RGD:11041731 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:31064749 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
factor XI deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:32581362 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Plasma factor XI deficiency
ClinVar Annotator: match by term: Hereditary factor XI deficiency disease
ClinVar Annotator: match by OMIM:612416
DNA:nonsense mutation:exon:G263X(human)
DNA:missense, nonsense, duplication, deletion:cds:
ClinVar
OMIM
PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 PMID:8832909 PMID:9401068 PMID:9787168 PMID:10444286 PMID:10593931 PMID:10606881 PMID:10706758 PMID:11122101 PMID:11127865 PMID:11418471 PMID:11895778 PMID:12586617 PMID:12716376 PMID:12879434 PMID:14508802 PMID:14717969 PMID:15026311 PMID:15090552 PMID:15140127 PMID:15140147 PMID:15180874 PMID:15456490 PMID:15531455 PMID:15634276 PMID:15728123 PMID:15749683 PMID:15842381 PMID:15870541 PMID:15946525 PMID:15953011 PMID:15968392 PMID:16079124 PMID:16086308 PMID:16519703 PMID:16607084 PMID:16787881 PMID:16835901 PMID:17229051 PMID:17549289 PMID:18005151 PMID:18024374 PMID:18327400 PMID:18388506 PMID:18446632 PMID:18515884 PMID:18758779 PMID:18832909 PMID:18839438 PMID:19367158 PMID:19652879 PMID:20015217 PMID:20398070 PMID:20523169 PMID:21192253 PMID:21457405 PMID:21649796 PMID:21668437 PMID:21718436 PMID:21824284 PMID:22016685 PMID:22159456 PMID:22197449 PMID:23305485 PMID:23315997 PMID:23332144 PMID:23929304 PMID:24033266 PMID:24112640 PMID:24982842 PMID:25074526 PMID:25158988 PMID:25681615 PMID:25741868 PMID:25741869 PMID:26558335 PMID:26879396 PMID:27067486 PMID:27710856 PMID:27723456 PMID:28492532 PMID:28960694 PMID:31064749 PMID:32581362, PMID:2813350, PMID:10706758, PMID:11127865 RGD:1598923, RGD:11041742, RGD:11041741 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:32581362 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
factor XII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO DNA:missense:exon:C571S
ClinVar Annotator: match by term: Factor 12 deficiency
ClinVar Annotator: match by term: Factor XII deficiency disease
ClinVar Annotator: match by term: Hageman factor deficiency
ClinVar Annotator: match by OMIM:234000
DNA:deletion mutations, transversion mutation:introns, exon:
DNA:missense, nonsense, deletion mutations:cds:
DNA:polymorphism:promoter:-46C>T(human)
ClinVar
OMIM
PMID:8528215 PMID:9354665 PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21264442 PMID:21690105 PMID:21920016 PMID:23188048 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:28492532, PMID:2510163, PMID:18024408, PMID:20386432, PMID:11248286 RGD:1601107, RGD:11041805, RGD:11041772, RGD:11041769 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hageman factor deficiency
ClinVar Annotator: match by term: Factor 12 deficiency
ClinVar Annotator: match by term: Factor XII deficiency disease
ClinVar PMID:8528215 PMID:9354665 PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21264442 PMID:21690105 PMID:21920016 PMID:23188048 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
factor XIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO DNA:nonsense mutation:intron:
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:IVS1+12C>A(human)
DNA:insertion, missense mutation:cds:
DNA:nonsense mutations, missense mutations:cds:
DNA:mutation:cds:p.R703W(human)
ClinVar
CTD
PMID:1644910 PMID:31136071, PMID:21512576, PMID:23508224, PMID:19937244, PMID:20179087, PMID:19438481 RGD:10450726, RGD:11041869, RGD:10450730, RGD:10450729, RGD:10450727 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F13b coagulation factor XIII B chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor XIII deficiency
CTD
ClinVar
PMID:2334637 PMID:25741868 NCBI chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300 RGD PMID:9546392 RGD:1600100 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
Factor XIII, A Subunit, Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO ClinVar Annotator: match by term: Factor XIII subunit A deficiency
DNA:deletions, mutation: exons, splice site:c.980G>A (R326Q),c.1112+2T>C,c.215 delA)
DNA:nonsense, missense mutations:exons:p.R661X,p.T242M(human)
OMIM
ClinVar
PMID:1353995 PMID:1644910 PMID:7236530 PMID:7727776 PMID:7918041 PMID:8025280 PMID:8547636 PMID:9459313 PMID:9531026 PMID:9531593 PMID:9550516 PMID:9712293 PMID:9920838 PMID:10027709 PMID:10365735 PMID:10910914 PMID:11167856 PMID:11380452 PMID:11692020 PMID:12072871 PMID:12100162 PMID:12456499 PMID:14695539 PMID:16763156 PMID:17393027 PMID:19438481 PMID:20179087 PMID:21512576 PMID:21633364 PMID:22995991 PMID:24118344 PMID:24194833 PMID:25741868 PMID:26503545 PMID:28492532 PMID:28520207 PMID:31064749, PMID:24118344, PMID:8025280 RGD:11041856, RGD:11041811 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
Factor XIII, B Subunit, Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13b coagulation factor XIII B chain ISO ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of
ClinVar Annotator: match by term: Factor xiii, b subunit, deficiency of
ClinVar Annotator: match by OMIM:613235
DNA:mutations:multiple:
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 PMID:14695539 PMID:16241947 PMID:25741868 PMID:28492532, PMID:20331752 RGD:10450738 NCBI chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
JBrowse link
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: FMFD I
ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1
ClinVar Annotator: match by OMIM:227300
OMIM
ClinVar
PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1
ClinVar Annotator: match by term: FMFD I
ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
hemophilia B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 NCBI chr  X:143,340,712...143,525,588
Ensembl chr  X:143,346,252...143,453,612
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
ClinVar Annotator: match by term: Hemophilia B
ClinVar PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 PMID:1908096 PMID:1924291 PMID:1979502 PMID:2104741 PMID:2106480 PMID:2493803 PMID:2498882 PMID:2506948 PMID:2833855 PMID:2987704 PMID:6438527 PMID:7728145 PMID:7794769 PMID:8281136 PMID:8307558 PMID:8449505 PMID:8490618 PMID:8547094 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9829908 PMID:9886318 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10896236 PMID:10910910 PMID:11102988 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11843836 PMID:11857744 PMID:12139751 PMID:12204009 PMID:12871415 PMID:15569173 PMID:15625837 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17222201 PMID:17445092 PMID:17610549 PMID:18034822 PMID:18387975 PMID:18403393 PMID:18565236 PMID:18600086 PMID:18691168 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719828 PMID:20102490 PMID:20193250 PMID:20300295 PMID:20331753 PMID:20533009 PMID:20800587 PMID:21070499 PMID:21371196 PMID:21751985 PMID:21838755 PMID:21883705 PMID:23625609 PMID:23812942 PMID:25741868 PMID:25824987 PMID:29296726 PMID:31064749 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G F9 coagulation factor IX treatment ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
ClinVar Annotator: match by term: Factor IX deficiency
ClinVar Annotator: match by term: Hemophilia B
ClinVar Annotator: match by term: Hemophilia b(m)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:306900
DNA:mutations:cds:P.G396R,K411X,I397T(human)
DNA:nonsense mutation:cds:p.R338X (human)
ClinVar Annotator: match by term: Hemophilia B Brandenburg
ClinVar Annotator: match by synonym: Hemophilia B Leyden
ClinVar Annotator: match by synonym: HEMOPHILIA B(M)
ClinVar
CTD
OMIM
PMID:734633 PMID:884315 PMID:1346483 PMID:1346975 PMID:1357229 PMID:1579901 PMID:1598234 PMID:1615485 PMID:1615486 PMID:1631121 PMID:1631558 PMID:1680287 PMID:1733855 PMID:1864609 PMID:1873221 PMID:1897528 PMID:1902289 PMID:1958666 PMID:1968152 PMID:1969838 PMID:1972560 PMID:1986380 PMID:1998585 PMID:2004020 PMID:2066105 PMID:2087690 PMID:2093364 PMID:2111833 PMID:2198809 PMID:2220823 PMID:2270538 PMID:2320433 PMID:2339358 PMID:2342576 PMID:2352926 PMID:2355000 PMID:2370049 PMID:2372509 PMID:2388855 PMID:2438804 PMID:2450455 PMID:2472424 PMID:2494175 PMID:2563663 PMID:2564457 PMID:2592373 PMID:2714791 PMID:2738071 PMID:2741941 PMID:2743975 PMID:2752109 PMID:2753873 PMID:2757966 PMID:2762170 PMID:2773937 PMID:2775660 PMID:2821070 PMID:2831715 PMID:2841226 PMID:2846283 PMID:2848757 PMID:2873459 PMID:2875754 PMID:2886685 PMID:2917196 PMID:2929599 PMID:2992643 PMID:3009023 PMID:3029178 PMID:3181127 PMID:3243764 PMID:3262389 PMID:3392024 PMID:3401602 PMID:3411192 PMID:3416069 PMID:3790720 PMID:3857619 PMID:4033760 PMID:4045960 PMID:4163943 PMID:5298508 PMID:5450691 PMID:6603618 PMID:6843667 PMID:7062952 PMID:7101232 PMID:7482402 PMID:7677806 PMID:7734378 PMID:7873393 PMID:7937052 PMID:8055323 PMID:8091381 PMID:8178822 PMID:8199596 PMID:8217825 PMID:8251390 PMID:8257988 PMID:8304338 PMID:8314564 PMID:8318985 PMID:8320491 PMID:8352232 PMID:8365725 PMID:8392713 PMID:8412791 PMID:8434583 PMID:8470048 PMID:8478007 PMID:8499919 PMID:8499951 PMID:8594556 PMID:8680410 PMID:8772212 PMID:8825645 PMID:9222764 PMID:9450791 PMID:9525872 PMID:9590153 PMID:9600455 PMID:10094553 PMID:10595634 PMID:10698280 PMID:10739381 PMID:10874302 PMID:10942410 PMID:10980527 PMID:11013449 PMID:11122099 PMID:11328285 PMID:12588353 PMID:12780784 PMID:12997790 PMID:15086324 PMID:15569175 PMID:15921378 PMID:16270648 PMID:16643212 PMID:17397055 PMID:18479429 PMID:18624698 PMID:19286883 PMID:19522246 PMID:19686262 PMID:19699296 PMID:19815722 PMID:19846852 PMID:20301668 PMID:20695909 PMID:22103590 PMID:22544209 PMID:22639855 PMID:22707612 PMID:23093250 PMID:23472758 PMID:23617593 PMID:24375831 PMID:25326637 PMID:25470321 PMID:25741868 PMID:25851415 PMID:26612714 PMID:27213901 PMID:27529981 PMID:27824213 PMID:28168417 PMID:28492532 PMID:28752769 PMID:28834196 PMID:29993188 PMID:31064749 PMID:32581362, PMID:2041805, PMID:20351275, PMID:9354664, PMID:21122306, PMID:2714791, PMID:2752145 RGD:9685705, RGD:10450764, RGD:10450762, RGD:10450761, RGD:10450760, RGD:10450759 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link
G LOC688842 hypothetical protein LOC688842 ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 NCBI chr  X:143,554,334...143,596,247
Ensembl chr  X:143,554,441...143,558,521
JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 NCBI chr  X:143,159,071...143,292,467
Ensembl chr  X:143,154,209...143,274,180
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link
platelet-type bleeding disorder 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Pseudo von Willebrand disease
DNA:missense mutation: :p.G233V (human)
DNA:missense mutation: :p.V239M (human)
DNA:deletion
ClinVar Annotator: match by OMIM:177820
OMIM
ClinVar
PMID:2052556 PMID:8384898 PMID:8486780 PMID:25741868 PMID:31064749, PMID:2052556, PMID:7833477, PMID:15705799 RGD:10450823, RGD:10450814, RGD:10450803 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
prothrombin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO DNA:missense mutation: :p.R418W (human)
ClinVar Annotator: match by term: Factor II deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation: :p.R271H, p.R382C, p.Q541X (human)
DNA:missense mutations, deletion, splice-site mutation: :multiple
ClinVar
CTD
PMID:3567158 PMID:6405779 PMID:7740448, PMID:1349838, PMID:8839854, PMID:14629473 RGD:1601108, RGD:10449425, RGD:10449424 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F7 coagulation factor VII IEP protein:decreased expression:plasma (rat) RGD PMID:2810399 RGD:2312318 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
DNA:mutations: :
ClinVar Annotator: match by OMIM:610842
OMIM
ClinVar
PMID:9615107 PMID:17110937 PMID:18800149 PMID:25741868 PMID:29175035, PMID:17110937 RGD:11040509 NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
JBrowse link
Quebec platelet disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Quebec platelet disorder
ClinVar Annotator: match by OMIM:601709
OMIM
ClinVar
PMID:18988861 PMID:20007542 PMID:28492532 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
thrombophilia due to activated protein C resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombophilia due to activated protein C resistance
ClinVar Annotator: match by term: Thrombophilia due to factor V Leiden
ClinVar
OMIM
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9454742 PMID:9459326 PMID:9518910 PMID:9734642 PMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:11018168 PMID:11110695 PMID:11686338 PMID:11950065 PMID:12070000 PMID:12421138 PMID:12816860 PMID:14617013 PMID:14695241 PMID:14996674 PMID:15534175 PMID:15638861 PMID:16246256 PMID:16493002 PMID:16931580 PMID:19486170 PMID:19652888 PMID:20051284 PMID:21116184 PMID:21774968 PMID:23382263 PMID:23900608 PMID:24033266 PMID:25741868 PMID:26251307 PMID:28492532 PMID:31064749 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
Von Willebrand Factor, Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:32581362 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:3257148 PMID:8456430 PMID:9253800 PMID:10669167 PMID:11756169 PMID:12043692 PMID:14613933 PMID:16870550 PMID:16889557 PMID:16925796 PMID:17080221 PMID:18230755 PMID:21346256 PMID:23647798 PMID:25741868 PMID:26467025 PMID:26986123 PMID:31064749 PMID:32581362 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
von Willebrand's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO RGD PMID:4546024 RGD:11341671 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Vwf von Willebrand factor treatment ISO
ISS
ClinVar Annotator: match by term: von Willebrand disorder
ClinVar Annotator: match by term: Von Willebrand disease, recessive form
ClinVar Annotator: match by term: von Willebrand Diseases
ClinVar
MouseDO
PMID:1301136 PMID:1302613 PMID:1324533 PMID:1380739 PMID:1415226 PMID:1419803 PMID:1537829 PMID:1557393 PMID:1581215 PMID:1672694 PMID:1673047 PMID:1729889 PMID:1761120 PMID:1832934 PMID:1906877 PMID:1918030 PMID:2010538 PMID:2385594 PMID:3257148 PMID:3259690 PMID:3487353 PMID:3488775 PMID:6696046 PMID:6773982 PMID:7620154 PMID:7734373 PMID:7906590 PMID:8088787 PMID:8134377 PMID:8165603 PMID:8367445 PMID:8456430 PMID:8456431 PMID:8486782 PMID:8500791 PMID:8562925 PMID:8621553 PMID:8630394 PMID:8865541 PMID:9253800 PMID:9308766 PMID:9684781 PMID:9723578 PMID:10669167 PMID:10845912 PMID:10959712 PMID:11057846 PMID:11150026 PMID:11159522 PMID:11325649 PMID:11583318 PMID:11756169 PMID:11776047 PMID:12043692 PMID:12080112 PMID:12211196 PMID:12649144 PMID:14525793 PMID:14613933 PMID:15041272 PMID:15297300 PMID:15461624 PMID:15670054 PMID:15755288 PMID:15842375 PMID:16115133 PMID:16221672 PMID:16246252 PMID:16247740 PMID:16321553 PMID:16322474 PMID:16870550 PMID:16889557 PMID:16925796 PMID:16953269 PMID:16985174 PMID:17000885 PMID:17080221 PMID:17087728 PMID:17119126 PMID:17155947 PMID:17190853 PMID:17200787 PMID:17296575 PMID:17681836 PMID:18036186 PMID:18162126 PMID:18230755 PMID:18315546 PMID:18315556 PMID:18344424 PMID:18384353 PMID:18449422 PMID:18485763 PMID:18510569 PMID:18712522 PMID:18805962 PMID:18841300 PMID:18986390 PMID:19060241 PMID:19277422 PMID:19404524 PMID:19506353 PMID:19506354 PMID:19506361 PMID:19566550 PMID:19630771 PMID:19630772 PMID:19687512 PMID:19740526 PMID:19951969 PMID:20118404 PMID:20230424 PMID:20231421 PMID:20301765 PMID:20305138 PMID:20345715 PMID:20351307 PMID:20409624 PMID:20418283 PMID:20492463 PMID:20586924 PMID:20590881 PMID:20682599 PMID:20713003 PMID:20838735 PMID:20981092 PMID:21251206 PMID:21346256 PMID:21362127 PMID:21371195 PMID:21393328 PMID:21429375 PMID:21534937 PMID:21711445 PMID:21794096 PMID:21967679 PMID:22077376 PMID:22102201 PMID:22197721 PMID:22315491 PMID:22329792 PMID:22372972 PMID:22431572 PMID:22473027 PMID:22578129 PMID:22871923 PMID:22875612 PMID:22995991 PMID:23110044 PMID:23179108 PMID:23216583 PMID:23335371 PMID:23340442 PMID:23349392 PMID:23354996 PMID:23355534 PMID:23406206 PMID:23407766 PMID:23426949 PMID:23636243 PMID:23647798 PMID:23648131 PMID:23690449 PMID:23775583 PMID:23819767 PMID:23886775 PMID:24029428 PMID:24033266 PMID:24351655 PMID:24385719 PMID:24482836 PMID:24675615 PMID:24712919 PMID:24800796 PMID:24928861 PMID:25051961 PMID:25103891 PMID:25185554 PMID:25293780 PMID:25431025 PMID:25477497 PMID:25564403 PMID:25662333 PMID:25689060 PMID:25690668 PMID:25696906 PMID:25741868 PMID:25753785 PMID:25779970 PMID:25780857 PMID:25851809 PMID:26200876 PMID:26206100 PMID:26207643 PMID:26210168 PMID:26345337 PMID:26456374 PMID:26467025 PMID:26827609 PMID:26879396 PMID:26986123 PMID:26988807 PMID:27029718 PMID:27320760 PMID:27353798 PMID:27380589 PMID:27443694 PMID:27532107 PMID:27596108 PMID:27683759 PMID:27766062 PMID:27785872 PMID:27885890 PMID:27978591 PMID:28060120 PMID:28083987 PMID:28091443 PMID:28492532 PMID:28536718 PMID:28581694 PMID:28640903 PMID:28692141 PMID:28916584 PMID:28924049 PMID:28971901 PMID:29186156 PMID:29590070 PMID:29924855 PMID:29984440 PMID:30722078 PMID:30817071 PMID:31026269 PMID:31064749 PMID:32581362, PMID:15118671, PMID:26239086 RGD:1331525, RGD:11079196 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
von Willebrand's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 severity
no_association
ISO DNA:SNP: :807C>T (human) RGD PMID:15226188, PMID:14652648 RGD:10766468, RGD:11530070 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga2b integrin subunit alpha 2b severity ISO DNA:haplotype:cds: RGD PMID:15226188 RGD:10766468 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to
ClinVar Annotator: match by term: von Willebrand disease type 1
ClinVar Annotator: match by term: VWD, TYPE 1
protein:decreased expression:plasma
DNA:mutation:exon:p.C386R(human)
ClinVar Annotator: match by OMIM:193400
OMIM
ClinVar
PMID:1301136 PMID:1415226 PMID:1581215 PMID:1672694 PMID:1832934 PMID:1906877 PMID:1918030 PMID:3257148 PMID:7620154 PMID:7734373 PMID:8456430 PMID:8500791 PMID:8839833 PMID:9253800 PMID:9684781 PMID:10669167 PMID:10845912 PMID:11698279 PMID:11756169 PMID:11776047 PMID:12043692 PMID:12211196 PMID:12649144 PMID:14525793 PMID:14613933 PMID:15461624 PMID:15670054 PMID:15755288 PMID:15842375 PMID:16870550 PMID:16889557 PMID:16925796 PMID:16953269 PMID:16985174 PMID:17080221 PMID:17087728 PMID:17119126 PMID:17190853 PMID:18162126 PMID:18230755 PMID:18384353 PMID:18485763 PMID:18510569 PMID:18712522 PMID:18805962 PMID:19277422 PMID:19372260 PMID:19404524 PMID:19506354 PMID:19687512 PMID:19951969 PMID:20147343 PMID:20301765 PMID:20409624 PMID:20586924 PMID:20682599 PMID:20981092 PMID:21346256 PMID:21371195 PMID:21429375 PMID:22102206 PMID:22197721 PMID:22315491 PMID:22329792 PMID:22578129 PMID:22871923 PMID:22875612 PMID:23340442 PMID:23349392 PMID:23355534 PMID:23426949 PMID:23636243 PMID:23834637 PMID:24029428 PMID:24033266 PMID:24675615 PMID:24712919 PMID:24928861 PMID:25103891 PMID:25185554 PMID:25696906 PMID:25741868 PMID:25741869 PMID:25780857 PMID:26200876 PMID:26207643 PMID:26467025 PMID:26879396 PMID:26986123 PMID:27380589 PMID:27596108 PMID:28091443 PMID:28581694 PMID:28916584 PMID:28971901 PMID:29423401 PMID:29924855 PMID:30722078 PMID:30817071 PMID:31064749 PMID:32581362, PMID:15226188, PMID:8839833 RGD:10766468, RGD:11079205 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
von Willebrand's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO protein:decreased expression:plasma RGD PMID:16409463 RGD:10766469 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Itga2 integrin subunit alpha 2 severity ISO DNA:haplotype:promoter: RGD PMID:16409463 RGD:10766469 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga2b integrin subunit alpha 2b no_association ISO DNA:haplotype:: RGD PMID:16409463 RGD:10766469 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Vwf von Willebrand factor treatment ISO ClinVar Annotator: match by term: von Willebrand disease type 2
ClinVar Annotator: match by term: von Willebrand disease type 2N
ClinVar Annotator: match by term: von Willebrand disease, type 2b
ClinVar Annotator: match by term: von Willebrand disease, type 2a
ClinVar Annotator: match by term: von Willebrand disease type 2M
ClinVar Annotator: match by term: VON WILLEBRAND FACTOR POLYMORPHISM
protein:decreased expression:plasma
DNA:deletion:cds:del K 1405-1408(human)
p. R1306Q,V1316M(mouse)
DNA:missense mutation:cds:p.M1304R(human)
ClinVar Annotator: match by term: von Willebrand disease, type 2a, UMLS MESH term: Type IIA von Willebrand Disease
ClinVar Annotator: match by term: von Willebrand disease, type 2n, UMLS MESH term: Type 2N von Willebrand Disease
ClinVar Annotator: match by term: von Willebrand disease, type 2b, UMLS MESH term: Type 2B von Willebrand Disease
ClinVar Annotator: match by term: von Willebrand disease, type 2m, UMLS MESH term: Type 2M von Willebrand Disease
ClinVar Annotator: match by OMIM:613554
OMIM
ClinVar
PMID:1409710 PMID:1419803 PMID:1419804 PMID:1557393 PMID:1581215 PMID:1672694 PMID:1673047 PMID:1729889 PMID:1761120 PMID:1832934 PMID:1906179 PMID:1906877 PMID:1918030 PMID:2010538 PMID:2011604 PMID:2018834 PMID:2104761 PMID:2385594 PMID:2557900 PMID:3132965 PMID:3259690 PMID:3487353 PMID:3488775 PMID:6426499 PMID:6696046 PMID:6767976 PMID:6773982 PMID:7620154 PMID:7734373 PMID:7789955 PMID:8134377 PMID:8435341 PMID:8456431 PMID:8486782 PMID:8500791 PMID:8622978 PMID:8630394 PMID:8865541 PMID:9569179 PMID:9684781 PMID:9723578 PMID:10845912 PMID:11776047 PMID:12211196 PMID:12406074 PMID:12588351 PMID:12649144 PMID:14525793 PMID:15041272 PMID:15226181 PMID:15461624 PMID:15670054 PMID:15755288 PMID:15842375 PMID:16115133 PMID:16221672 PMID:16246252 PMID:16322474 PMID:16889557 PMID:16953269 PMID:16985174 PMID:17080221 PMID:17087728 PMID:17119126 PMID:17155947 PMID:17190853 PMID:17681836 PMID:18162126 PMID:18315546 PMID:18315556 PMID:18384353 PMID:18485763 PMID:18510569 PMID:18712522 PMID:18805962 PMID:18986390 PMID:19060241 PMID:19277422 PMID:19404524 PMID:19506354 PMID:19687512 PMID:19740526 PMID:19951969 PMID:20118404 PMID:20231421 PMID:20301765 PMID:20335223 PMID:20351307 PMID:20409624 PMID:20586924 PMID:20682599 PMID:20838735 PMID:20981092 PMID:21346256 PMID:21371195 PMID:21429375 PMID:21534937 PMID:22077376 PMID:22102201 PMID:22197721 PMID:22315491 PMID:22329792 PMID:22372972 PMID:22578129 PMID:22875612 PMID:23110044 PMID:23179108 PMID:23340442 PMID:23349392 PMID:23355534 PMID:23426949 PMID:23636243 PMID:23819767 PMID:24029428 PMID:24033266 PMID:24351655 PMID:24675615 PMID:24712919 PMID:24928861 PMID:25103891 PMID:25185554 PMID:25431025 PMID:25689060 PMID:25696906 PMID:25741868 PMID:25753785 PMID:25780857 PMID:25851809 PMID:26200876 PMID:26206100 PMID:26207643 PMID:26210168 PMID:26345337 PMID:26456374 PMID:26467025 PMID:26827609 PMID:26879396 PMID:26986123 PMID:26988807 PMID:27029718 PMID:27317792 PMID:27353798 PMID:27380589 PMID:27443694 PMID:27596108 PMID:27683759 PMID:27766062 PMID:27785872 PMID:27885890 PMID:27978591 PMID:28060120 PMID:28091443 PMID:28581694 PMID:28640903 PMID:28692141 PMID:28916584 PMID:28924049 PMID:28971901 PMID:29186156 PMID:29924855 PMID:30722078 PMID:30817071 PMID:31064749 PMID:32581362, PMID:16409463, PMID:10959688, PMID:20589313, PMID:8839848, PMID:20200350, PMID:26019279 RGD:10766469, RGD:11079206, RGD:11079203, RGD:11079202, RGD:11079201, RGD:11079200 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
von Willebrand's disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: von Willebrand disease type 3
ClinVar Annotator: match by term: Von Willebrand disease, severe form
ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III
DNA:deletions:exons:
ClinVar Annotator: match by term: von Willebrand disease, type 3
OMIM
ClinVar
PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 PMID:1906877 PMID:1918030 PMID:8165603 PMID:8367445 PMID:8500791 PMID:9569178 PMID:9684781 PMID:12211196 PMID:15461624 PMID:15670054 PMID:16643449 PMID:16953269 PMID:16985174 PMID:18485763 PMID:18712522 PMID:19372260 PMID:20147343 PMID:20301765 PMID:20409624 PMID:20586924 PMID:20981092 PMID:21371195 PMID:22102206 PMID:22197721 PMID:22875612 PMID:23426949 PMID:23636243 PMID:23834637 PMID:24029428 PMID:24033266 PMID:24675615 PMID:24712919 PMID:24928861 PMID:25741868 PMID:26207643 PMID:26467025 PMID:28581694 PMID:28971901 PMID:29423401 PMID:29590070 PMID:31064749, PMID:7831648 RGD:11079204 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      hematopoietic system disease 1647
        blood coagulation disease 626
          Coagulation Protein Disorders 54
            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
            combined deficiency of vitamin K-dependent clotting factors 2 1
            congenital afibrinogenemia + 5
            factor V deficiency + 5
            factor VII deficiency 2
            factor VIII deficiency + 26
            factor X deficiency 3
            factor XI deficiency 3
            factor XII deficiency 2
            factor XIII deficiency + 3
            hemophilia B 7
            prothrombin deficiency + 2
            thrombophilia due to activated protein C resistance 4
            von Willebrand's disease + 8
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Hemic and Lymphatic Diseases 2065
        hematopoietic system disease 1647
          blood coagulation disease 626
            Coagulation Protein Disorders 54
              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
              combined deficiency of vitamin K-dependent clotting factors 2 1
              congenital afibrinogenemia + 5
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 26
              factor X deficiency 3
              factor XI deficiency 3
              factor XII deficiency 2
              factor XIII deficiency + 3
              hemophilia B 7
              prothrombin deficiency + 2
              thrombophilia due to activated protein C resistance 4
              von Willebrand's disease + 8
paths to the root