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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:thrombophilia
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Accession:DOID:2452 term browser browse the term
Definition:A blood coagulation disease that is characterized by an increased tendency to form clots. (DO)
Synonyms:exact_synonym: hypercoagulabilities;   hypercoagulability;   hypercoagulability state;   thrombophilias
 primary_id: MESH:D019851
 xref: ICD10CM:D68.59;   NCI:C84479;   OMIM:PS188050
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
thrombophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 treatment ISO RGD PMID:15986360 RGD:11040779 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5 complement C5 treatment ISO RGD PMID:15986360 RGD:11040779 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 Cd46 CD46 molecule ISO mRNA, protein:increased expression:placenta (human) RGD PMID:23042280 RGD:11352772 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F2 coagulation factor II IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16628723, PMID:21232185 RGD:7387320 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:15961065 RGD:11341696 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD PMID:16628723 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fga fibrinogen alpha chain ISO DNA:polymorphism:p.T312A (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:8473507, PMID:10910940 RGD:1601167 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Habp2 hyaluronan binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:277,068,715...277,104,567
Ensembl chr 1:277,068,761...277,104,566
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO associated with Liver Cirrhosis, Biliary;DNA:SNP: :677C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:17493413, PMID:16570355 RGD:10449396 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Plg plasminogen ISO DNA:point mutation:exon:S572P RGD PMID:8392398 RGD:1601404 NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO DNA:nonsense mutation, missense mutation:cds:p.R306X, p.W402C (human)
associated with Infertility, Female
RGD PMID:2437584, PMID:24189967, PMID:7881411 RGD:1578514, RGD:11099991, RGD:1581278 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment ISO RGD PMID:23454623 RGD:11041740 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G Serpina10 serpin family A member 10 ISO DNA:nonsense mutations, missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15461625, PMID:15461625 RGD:1580104 NCBI chr 6:127,500,014...127,508,470
Ensembl chr 6:127,500,016...127,508,452
Ensembl chr 6:127,500,016...127,508,452
JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2214444 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12139752 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
Acquired Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 IEP associated with Sepsis;protein:increased activity:lung (rat) RGD PMID:18182560 RGD:11080962 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
Acute Traumatic Coagulopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue type treatment IDA
IEP
protein:increased expression:serum (rat) RGD PMID:25325345, PMID:25676919 RGD:11554179, RGD:11554180 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
antithrombin III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinc1 serpin family C member 1 susceptibility ISO ClinVar Annotator: match by term: Antithrombin deficiency
ClinVar Annotator: match by term: Antithrombin III deficiency
ClinVar Annotator: match by term: Reduced antithrombin III activity
ClinVar Annotator: match by OMIM:613118
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombophilia due to antithrombin III deficiency
ClinVar Annotator: match by term: Antithrombin deficiency, UMLS OMIM term: THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
ClinVar Annotator: match by null
ClinVar
CTD
OMIM
PMID:1325679 PMID:1421387 PMID:1469094 PMID:1483705 PMID:1483709 PMID:1536946 PMID:1551681 PMID:1555650 PMID:1868237 PMID:1873224 PMID:1906811 PMID:1932746 PMID:1977621 PMID:1998601 PMID:2012760 PMID:2093312 PMID:2229057 PMID:2336381 PMID:2349545 PMID:2363123 PMID:2365065 PMID:2372510 PMID:2602168 PMID:2615648 PMID:2794060 PMID:2917133 PMID:2983542 PMID:3055413 PMID:3080419 PMID:3141397 PMID:3162733 PMID:3169232 PMID:3179438 PMID:3179448 PMID:3187951 PMID:3191114 PMID:3238650 PMID:3350974 PMID:3360140 PMID:3413737 PMID:3472589 PMID:3512602 PMID:3563974 PMID:3567355 PMID:3580302 PMID:3605071 PMID:3663508 PMID:3663935 PMID:3715788 PMID:3775688 PMID:3805013 PMID:3828226 PMID:3960724 PMID:4049307 PMID:4082101 PMID:6204398 PMID:6435583 PMID:6572945 PMID:6582486 PMID:6636045 PMID:6871107 PMID:6871478 PMID:7082587 PMID:7949130 PMID:7981186 PMID:7989582 PMID:8217824 PMID:8443391 PMID:8476848 PMID:8664906 PMID:9157604 PMID:9493570 PMID:9845533 PMID:10361121 PMID:10823268 PMID:11307839 PMID:11686319 PMID:11713457 PMID:12399451 PMID:12591924 PMID:12907439 PMID:14347873 PMID:14754620 PMID:15164384 PMID:16620552 PMID:16705712 PMID:16956830 PMID:18954896 PMID:19277409 PMID:20088933 PMID:20683322 PMID:21264449 PMID:21325262 PMID:22481271 PMID:22498748 PMID:22627591 PMID:23329010 PMID:23358206 PMID:23910795 PMID:24055113 PMID:24072242 PMID:24082793 PMID:24121110 PMID:24158114 PMID:24162787 PMID:24889358 PMID:24956267 PMID:25341889 PMID:25522812 PMID:25637381 PMID:25741868 PMID:25837307 PMID:26748602 PMID:27098529 PMID:27283015 PMID:27322195 PMID:27749296 PMID:28166811 PMID:28300866 PMID:28317092 PMID:28492532 PMID:28607330 PMID:28743742 PMID:29153735 PMID:29215785 PMID:29662868 PMID:29902631 PMID:30046692 PMID:31064749 PMID:31885188, PMID:3162535 RGD:1599321 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
autosomal dominant thrombophilia due to protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant ClinVar
OMIM
PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 PMID:1498334 PMID:1511988 PMID:1511989 PMID:1593215 PMID:1771629 PMID:1868249 PMID:2437584 PMID:2602169 PMID:2991887 PMID:3185623 PMID:6589623 PMID:7482420 PMID:7605880 PMID:7670104 PMID:7740502 PMID:7792728 PMID:7795150 PMID:7831652 PMID:7841324 PMID:7865674 PMID:7881411 PMID:7894031 PMID:7951255 PMID:8093743 PMID:8128429 PMID:8136274 PMID:8165644 PMID:8218861 PMID:8292730 PMID:8324221 PMID:8400292 PMID:8446940 PMID:8462980 PMID:8477066 PMID:8499565 PMID:8499568 PMID:8505327 PMID:8639775 PMID:8807339 PMID:8972002 PMID:9536098 PMID:9553065 PMID:9683579 PMID:9798967 PMID:9840027 PMID:10358041 PMID:10669160 PMID:10805275 PMID:10942114 PMID:11380450 PMID:14642106 PMID:16867987 PMID:17152060 PMID:17576681 PMID:17635713 PMID:18573519 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21621249 PMID:21744130 PMID:21901152 PMID:22353194 PMID:22425321 PMID:22545135 PMID:22627591 PMID:22817391 PMID:22944127 PMID:23174622 PMID:23332921 PMID:23389250 PMID:24028705 PMID:24051141 PMID:24162787 PMID:24782131 PMID:25039884 PMID:25393254 PMID:25525159 PMID:25533856 PMID:25637381 PMID:25648792 PMID:25712501 PMID:25741868 PMID:25748729 PMID:27081530 PMID:27172833 PMID:27517348 PMID:27838551 PMID:27995882 PMID:28111891 PMID:28174134 PMID:28468828 PMID:28492532 PMID:28607330 PMID:29356699 PMID:31064749 PMID:31254973 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
autosomal dominant thrombophilia due to protein S deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Reduced protein S activity ClinVar PMID:32581362 NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Reduced protein S activity ClinVar PMID:32581362 NCBI chr11:38,535,971...38,590,274
Ensembl chr11:38,536,165...38,590,107
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant
ClinVar Annotator: match by term: Reduced protein S activity
OMIM
ClinVar
PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 PMID:7803790 PMID:8113388 PMID:8298131 PMID:8765219 PMID:8943854 PMID:9241758 PMID:9657428 PMID:10447256 PMID:10456456 PMID:10669162 PMID:10706858 PMID:10811787 PMID:10887114 PMID:11127877 PMID:11858485 PMID:12960605 PMID:15147381 PMID:15175796 PMID:15238143 PMID:15712227 PMID:15978566 PMID:16100035 PMID:16199547 PMID:16461766 PMID:16961608 PMID:18435454 PMID:18841302 PMID:18954896 PMID:19826897 PMID:20811787 PMID:20880255 PMID:21172841 PMID:21285903 PMID:21486865 PMID:21764424 PMID:21764702 PMID:21811774 PMID:22273984 PMID:23813890 PMID:24014240 PMID:24033266 PMID:24055113 PMID:24119292 PMID:24233386 PMID:24365770 PMID:25272994 PMID:25637381 PMID:25741868 PMID:26251307 PMID:26985940 PMID:27652279 PMID:27660039 PMID:27667277 PMID:27748013 PMID:27838551 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29225857 PMID:29748776 PMID:29883906 PMID:30349894 PMID:31064749 PMID:32581362 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Reduced protein S activity ClinVar PMID:32581362 NCBI chr 7:1,145,002...1,149,978 JBrowse link
autosomal recessive thrombophilia due to protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
ClinVar Annotator: match by OMIM:612304
OMIM
ClinVar
PMID:1347608 PMID:1347706 PMID:1348046 PMID:1511988 PMID:1593215 PMID:1678832 PMID:1868249 PMID:3185623 PMID:7482420 PMID:8128429 PMID:8165644 PMID:10805275 PMID:10942114 PMID:17152060 PMID:18573519 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21621249 PMID:21901152 PMID:24162787 PMID:25637381 PMID:25741868 PMID:28111891 PMID:28492532 PMID:28607330 PMID:31064749 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
autosomal recessive thrombophilia due to protein S deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:28492532 NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive
ClinVar Annotator: match by OMIM:614514
OMIM
ClinVar
PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2526663 PMID:7579448 PMID:7579449 PMID:7803790 PMID:7974339 PMID:8298131 PMID:8765219 PMID:8841302 PMID:8943854 PMID:9031442 PMID:9241758 PMID:9536098 PMID:9651142 PMID:10063989 PMID:10456456 PMID:10613646 PMID:10669162 PMID:10706858 PMID:10790208 PMID:10811787 PMID:10887114 PMID:11127877 PMID:11776305 PMID:11858485 PMID:12351389 PMID:12960605 PMID:15147381 PMID:15175796 PMID:15238143 PMID:15712227 PMID:15978566 PMID:16100035 PMID:16199547 PMID:16461766 PMID:16961607 PMID:16961608 PMID:17157360 PMID:17576681 PMID:18322254 PMID:18435454 PMID:18841302 PMID:18954896 PMID:19826897 PMID:20484936 PMID:20811787 PMID:20880255 PMID:21172841 PMID:21285903 PMID:21486865 PMID:21764424 PMID:21764702 PMID:21811774 PMID:22166512 PMID:22261441 PMID:22273984 PMID:22951146 PMID:23813890 PMID:24014240 PMID:24033266 PMID:24055113 PMID:24119292 PMID:24233386 PMID:24365770 PMID:25272994 PMID:25637381 PMID:25741868 PMID:26046366 PMID:26251307 PMID:26466767 PMID:26985940 PMID:27652279 PMID:27660039 PMID:27667277 PMID:27748013 PMID:27838551 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29225857 PMID:29321366 PMID:29748776 PMID:29883906 PMID:30349894 PMID:30543986 PMID:30669159 PMID:31064749 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:28492532 NCBI chr 7:1,145,002...1,149,978 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 OMIM:613679
ClinVar Annotator: match by null
DNA:deletion, missense mutations:cds:
ClinVar Annotator: match by term: Hereditary factor II deficiency disease
ClinVar Annotator: match by term: Prothrombin deficiency, congenital
ClinVar Annotator: match by term: Prolonged prothrombin time
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
Congenital Thrombotic Disease, due to Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:25748729 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
disseminated intravascular coagulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased expression, decreased activity:plasma (human) RGD PMID:16189276 RGD:10449048 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma:
associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma:
RGD PMID:20655560, PMID:10912863 RGD:10450544, RGD:10450545 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:16642548 RGD:1581020 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F2 coagulation factor II IDA
ISO
CTD Direct Evidence: marker/mechanism
associated with Wounds and Injuries
CTD PMID:1894189, PMID:22229668, PMID:23737601, PMID:1336986, PMID:19682336 RGD:6893489, RGD:10449432, RGD:10449429, RGD:10449422 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F3 coagulation factor III, tissue factor ISO
IEP
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:lung, plasma
associated with Leukemia, Myeloid
CTD PMID:7740478 PMID:9134660 PMID:20642682, PMID:8914465, PMID:9426395, PMID:3802033 RGD:11060253, RGD:11060265, RGD:11341675 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:16159073 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fga fibrinogen alpha chain treatment IEP
IDA
protein:decreased expression:plasma (rat) RGD PMID:23538169, PMID:22800895 RGD:10755508, RGD:10755509 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:16613997 RGD:11049462 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 severity
treatment
ISO
IEP
IDA
associated with Hemorrhagic Fever, Crimean
protein:increased expression:plasma (rat)
RGD PMID:16518755, PMID:16932226, PMID:16810104, PMID:16613997 RGD:10450536, RGD:11062099, RGD:11060278, RGD:11049462 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:15547535 NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO
IDA
protein:increased expression:plasma (human)
associated with Jaundice, Obstructive
RGD PMID:23726093, PMID:1425827 RGD:11541052, RGD:11541087 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:18376272, PMID:9788960, PMID:10936861 RGD:11099993, RGD:11100014 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Serpinc1 serpin family C member 1 treatment ISO associated with Endotoxemia
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:6233579 PMID:8810955 PMID:9637888, PMID:2679067 RGD:11035251 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Serpine1 serpin family E member 1 treatment IDA
IEP
associated with Endotoxemia
protein:increased expression:blood (rat)
RGD PMID:15869603, PMID:23737601 RGD:11080963, RGD:10449432 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO
IEP
mRNA, protein:increased expression:lung, plasma
protein:increased expression:plasma:
RGD PMID:11074537, PMID:8292719, PMID:8929465, PMID:9426395, PMID:8914465 RGD:11060128, RGD:11341674, RGD:11062067, RGD:11060265, RGD:11060253 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thbd thrombomodulin treatment ISO CTD Direct Evidence: therapeutic CTD PMID:9134660, PMID:21569368, PMID:23952647 RGD:5685034, RGD:11038686 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor severity ISO associated with Hemorrhagic Fever, Crimean RGD PMID:16518755 RGD:10450536 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
heparin cofactor II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Heparin cofactor II deficiency
ClinVar Annotator: match by term: Thrombotic stroke
ClinVar PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 PMID:31064749 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Heparin cofactor II deficiency
ClinVar Annotator: match by term: Thrombotic stroke
ClinVar Annotator: match by OMIM:612356
OMIM
ClinVar
PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 PMID:31064749 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link
Hereditary Thrombophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO CTD Direct Evidence: marker/mechanism CTD PMID:9136971 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Habp2 hyaluronan binding protein 2 ISO ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia ClinVar PMID:12138371 PMID:12578864 PMID:15486068 PMID:26222560 PMID:26581001 PMID:26581002 PMID:26581003 PMID:26581004 PMID:26581005 PMID:28492532 NCBI chr 1:277,068,715...277,104,567
Ensembl chr 1:277,068,761...277,104,566
JBrowse link
G Nrap nebulin-related anchoring protein ISO ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia ClinVar NCBI chr 1:277,104,519...277,181,397
Ensembl chr 1:277,104,514...277,181,414
JBrowse link
protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO DNA:missense mutations:cds:p.L223F, p.I403M (human)
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Protein C deficiency
DNA:missense mutation:exon:p.R87H (3203G>A) (human)
DNA:missense mutation:exon:p.A259T (8490G>A) (human)
CTD
ClinVar
PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:1868249 PMID:2602169 PMID:3185623 PMID:7482420 PMID:7605880 PMID:8128429 PMID:8165644 PMID:8499565 PMID:8807339 PMID:9798967 PMID:10805275 PMID:10942114 PMID:14707701 PMID:18376272 PMID:18573519 PMID:18954896 PMID:21445774 PMID:21621249 PMID:22545135 PMID:22817391 PMID:22944127 PMID:23332921 PMID:23389250 PMID:24028705 PMID:24162787 PMID:25637381 PMID:25741868 PMID:28111891 PMID:28492532 PMID:31064749 PMID:31254973 PMID:33761690, PMID:8128429, PMID:8845458, PMID:11434940 RGD:1578392, RGD:11099985, RGD:11099984 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
protein S deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Protein S deficiency ClinVar PMID:32581362 NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Protein S deficiency ClinVar PMID:32581362 NCBI chr11:38,535,971...38,590,274
Ensembl chr11:38,536,165...38,590,107
JBrowse link
G Pros1 protein S no_association ISO ClinVar Annotator: match by term: Protein S deficiency disease
DNA:missense mutations, deletion: :multiple
DNA:frameshift mutation:exon:c.1113T>G (human)
DNA:SNPs: : c.1016T>A, c.1138A>C (human)
DNA:missense, nonsense, deletions: :multiple
DNA:deletions, duplication:exon, intron
DNA:missense mutation:exon:p.S460P (human)
ClinVar PMID:7579449 PMID:7803790 PMID:8943854 PMID:9241758 PMID:9536098 PMID:10447256 PMID:10706858 PMID:11127877 PMID:11858485 PMID:12351389 PMID:17576681 PMID:18322254 PMID:20880255 PMID:22166512 PMID:22261441 PMID:22951146 PMID:23813890 PMID:24014240 PMID:24055113 PMID:25272994 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29321366 PMID:29748776 PMID:30543986 PMID:30669159 PMID:31064749 PMID:32581362, PMID:9657428, PMID:11776305, PMID:16885060, PMID:22261441, PMID:22261441, PMID:19466456, PMID:7579448, PMID:12907438 RGD:1599209, RGD:11251679, RGD:11251677, RGD:11250419, RGD:11250419, RGD:11250418, RGD:11250415, RGD:1578677 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Protein S deficiency ClinVar PMID:32581362 NCBI chr 7:1,145,002...1,149,978 JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:23079294, PMID:20002538 RGD:11060129, RGD:11060140 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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
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:23677252 PMID:23900608 PMID:24033266 PMID:25741868 PMID:25977387 PMID:26251307 PMID:26990548 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
thrombophilia due to decreased release of PLAT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plat plasminogen activator, tissue type ISO OMIM NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
thrombophilia due to HRG deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY
ClinVar Annotator: match by OMIM:613116
OMIM
ClinVar
PMID:9414276 PMID:11057869 PMID:29108964 NCBI chr11:81,621,274...81,639,938
Ensembl chr11:81,621,283...81,639,952
JBrowse link
thrombophilia due to thrombin defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO OMIM NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F2 coagulation factor II ISO ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT
ClinVar Annotator: match by term: Thrombophilia due to thrombin defect
ClinVar
OMIM
PMID:2222810 PMID:2429850 PMID:6305407 PMID:6405779 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:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:15059842 PMID:15534175 PMID:16493002 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:22716977 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombophilia due to thrombin defect ClinVar PMID:11950065 PMID:12816860 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Habp2 hyaluronan binding protein 2 ISO OMIM NCBI chr 1:277,068,715...277,104,567
Ensembl chr 1:277,068,761...277,104,566
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT ClinVar
OMIM
PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545406 PMID:9737770 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10732818 PMID:10869114 PMID:10930360 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12796225 PMID:12915598 PMID:14647408 PMID:15051775 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15781665 PMID:15806605 PMID:15808177 PMID:16013960 PMID:16019535 PMID:16172608 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16462575 PMID:16463153 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17323057 PMID:17350979 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18987660 PMID:19159907 PMID:19307503 PMID:19648163 PMID:20154341 PMID:20638924 PMID:21605004 PMID:21644011 PMID:21747412 PMID:22143415 PMID:22838948 PMID:22992668 PMID:23089671 PMID:23488607 PMID:23648444 PMID:23775025 PMID:24241962 PMID:24637499 PMID:25007187 PMID:25065700 PMID:25110820 PMID:25227144 PMID:25303299 PMID:25741868 PMID:25778468 PMID:26014925 PMID:27399166 PMID:28492532 PMID:28696419 PMID:29683944 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
thrombophilia due to thrombomodulin defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Thrombophilia due to thrombomodulin defect
ClinVar Annotator: match by OMIM:614486
OMIM
ClinVar
PMID:7811989 PMID:9236408 PMID:9364978 PMID:9843165 PMID:10195941 PMID:10460600 PMID:10627464 PMID:11078228 PMID:11986219 PMID:12139752 PMID:23332921 PMID:25741868 PMID:28492532 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
thrombotic thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Upshaw-Schulman syndrome
ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura
ClinVar Annotator: match by OMIM:274150
CTD Direct Evidence: marker/mechanism
Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human)
DNA:mutations:multiple (human)
protein:decreased activity:plasma (human)
OMIM
ClinVar
CTD
PMID:6433703 PMID:7094941 PMID:11563771 PMID:11586351 PMID:12181489 PMID:12393505 PMID:12434890 PMID:12576319 PMID:12656756 PMID:12753286 PMID:14512317 PMID:14563640 PMID:14597993 PMID:15009458 PMID:15126318 PMID:15521921 PMID:15800115 PMID:16453338 PMID:16597588 PMID:16796708 PMID:16807643 PMID:17003922 PMID:17187257 PMID:17627784 PMID:18031293 PMID:18443791 PMID:18481107 PMID:18581589 PMID:18665921 PMID:19047683 PMID:19055667 PMID:19786614 PMID:19847791 PMID:20647566 PMID:20886194 PMID:21488199 PMID:21676167 PMID:21781265 PMID:22289888 PMID:22529288 PMID:22768050 PMID:22783805 PMID:23346910 PMID:23621748 PMID:23648131 PMID:23715102 PMID:23847193 PMID:24033266 PMID:24936513 PMID:25442981 PMID:25741868 PMID:25934476 PMID:26081109 PMID:26139087 PMID:26352112 PMID:26566785 PMID:27132698 PMID:27802307 PMID:28492532 PMID:28748566 PMID:28866379 PMID:29554699 PMID:30046676 PMID:30312976 PMID:30792199 PMID:31064749 PMID:31971692 PMID:32183147, PMID:18031293, PMID:11586351, PMID:16200209, PMID:9129011 RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478, PMID:7740478 RGD:11340214 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 treatment ISO human protein in a rat model RGD PMID:9828246, PMID:26338302 RGD:10449039, RGD:10449097 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
X-linked thrombophilia due to factor IX defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: Deep venous thrombosis, protection against
ClinVar Annotator: match by term: Thrombophilia, X-linked, due to factor IX defect
ClinVar Annotator: match by OMIM:300807
OMIM
ClinVar
PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 PMID:1968152 PMID:2066105 PMID:2087690 PMID:2198809 PMID:2220823 PMID:2370049 PMID:2450455 PMID:2472424 PMID:2564457 PMID:2752109 PMID:2773937 PMID:2929599 PMID:3857619 PMID:5298508 PMID:6603618 PMID:7482402 PMID:7873393 PMID:7937052 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:16643212 PMID:17014892 PMID:19286883 PMID:19699296 PMID:19846852 PMID:22103590 PMID:22544209 PMID:22639855 PMID:23093250 PMID:23617593 PMID:25326637 PMID:25741868 PMID:25851415 PMID:27529981 PMID:27865967 PMID:28492532 PMID:29656491 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      hematopoietic system disease 1799
        blood coagulation disease 651
          thrombophilia 39
            Antithrombin Deficiency Type 2 0
            Factor V Excess with Spontaneous Thrombosis 0
            Familial Thrombomodulin Anomalies 0
            Hereditary Thrombophilia 3
            X-linked thrombophilia due to factor IX defect 1
            antithrombin III deficiency 1
            disseminated intravascular coagulation + 17
            heparin cofactor II deficiency 2
            protein C deficiency + 2
            protein S deficiency + 5
            prothrombin deficiency + 2
            prothrombin thrombophilia 0
            thrombophilia due to HRG deficiency 1
            thrombophilia due to activated protein C resistance 4
            thrombophilia due to decreased release of PLAT 1
            thrombophilia due to thrombin defect 5
            thrombophilia due to thrombomodulin defect 1
            thrombotic thrombocytopenic purpura + 8
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      Hemic and Lymphatic Diseases 2220
        hematopoietic system disease 1799
          blood coagulation disease 651
            thrombophilia 39
              Antithrombin Deficiency Type 2 0
              Factor V Excess with Spontaneous Thrombosis 0
              Familial Thrombomodulin Anomalies 0
              Hereditary Thrombophilia 3
              X-linked thrombophilia due to factor IX defect 1
              antithrombin III deficiency 1
              disseminated intravascular coagulation + 17
              heparin cofactor II deficiency 2
              protein C deficiency + 2
              protein S deficiency + 5
              prothrombin deficiency + 2
              prothrombin thrombophilia 0
              thrombophilia due to HRG deficiency 1
              thrombophilia due to activated protein C resistance 4
              thrombophilia due to decreased release of PLAT 1
              thrombophilia due to thrombin defect 5
              thrombophilia due to thrombomodulin defect 1
              thrombotic thrombocytopenic purpura + 8
paths to the root