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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 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C5 complement C5 treatment ISO RGD PMID:15986360 RGD:11040779 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
JBrowse link
G Cd46 CD46 molecule ISO mRNA, protein:increased expression:placenta (human) RGD PMID:23042280 RGD:11352772 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G F2 coagulation factor II IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16628723 PMID:21232185 RGD:7387320 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:15961065 RGD:11341696 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD PMID:16628723 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G Fga fibrinogen alpha chain ISO DNA:polymorphism:p.T312A (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:8473507 PMID:10910940 RGD:1601167 NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Habp2 hyaluronan binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO associated with Liver Cirrhosis, Biliary;DNA:SNP: :677C>T (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17493413 PMID:16570355 RGD:10449396 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Plg plasminogen ISO DNA:point mutation:exon:S572P RGD PMID:8392398 RGD:1601404 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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 chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment ISO RGD PMID:23454623 RGD:11041740 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G Serpina10 serpin family A member 10 ISO DNA:nonsense mutations, missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15461625 PMID:15461625 RGD:1580104 NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2214444 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12139752 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
antithrombin III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar Ensembl chr13:73,424,480...73,450,466 JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177
JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
JBrowse link
G Cop1 COP1, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,303,611...73,306,932 JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180
JBrowse link
G Klhl20 kelch-like family member 20 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,363,451...73,408,346
Ensembl chr13:73,363,455...73,408,337
JBrowse link
G LOC100302372 hypothetical protein LOC100302372 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103
JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915
JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
JBrowse link
G Rabgap1l RAB GTPase activating protein 1-like ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984
JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
JBrowse link
G Scarna3 small Cajal body-specific RNA 3 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr 6:99,222,432...99,222,521
Ensembl chr 6:99,222,432...99,222,521
JBrowse link
G Serpinc1 serpin family C member 1 susceptibility ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:1325679 PMID:1360174 PMID:1421387 PMID:1469094 PMID:1483705 More... RGD:1599321 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G Slc9c2 solute carrier family 9, member C2 (putative) ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,424,681...73,524,244
Ensembl chr13:73,451,115...73,524,239
Ensembl chr13:73,451,115...73,524,239
JBrowse link
G Tex50 testis expressed 50 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,433,375...73,438,787
Ensembl chr13:73,433,384...73,438,792
JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,319,160...72,386,362
Ensembl chr13:72,319,155...72,408,156
JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641
JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
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 due to protein C deficiency, autosomal dominant OMIM
ClinVar
PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 More... NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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 Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant OMIM
ClinVar
PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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 due to protein C deficiency, autosomal recessive OMIM
ClinVar
PMID:1347608 PMID:1347706 PMID:1348046 PMID:1511988 PMID:1593215 More... NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive OMIM
ClinVar
PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2526663 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
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 DNA:deletion, missense mutations:cds:
ClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin time
OMIM
ClinVar
RGD
PMID:444582 PMID:625142 PMID:1349838 PMID:1421398 PMID:1557383 More... RGD:11565075 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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
ClinVar Annotator: match by term: Reduced protein C activity
CTD
ClinVar
PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:1868249 More... NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:16642548 RGD:1581020 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G F2 coagulation factor II IDA
ISO
CTD Direct Evidence: marker/mechanism
associated with Wounds and Injuries
CTD
RGD
PMID:1894189 PMID:22229668 PMID:23737601 PMID:1336986 PMID:19682336 RGD:6893489, RGD:10449432, RGD:10449429, RGD:10449422 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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
RGD
PMID:7740478 PMID:9134660 PMID:20642682 PMID:8914465 PMID:9426395 More... RGD:11060253, RGD:11060265, RGD:11341675 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G F7 coagulation factor VII ISO CTD Direct Evidence: marker/mechanism CTD PMID:16159073 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:16613997 RGD:11049462 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:15547535 NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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 chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18376272 PMID:9788960 PMID:10936861 RGD:11099993, RGD:11100014 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G Serpinc1 serpin family C member 1 treatment ISO associated with Endotoxemia
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:6233579 PMID:8810955 PMID:9637888 PMID:2679067 RGD:11035251 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Thbd thrombomodulin treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:9134660 PMID:21569368 PMID:23952647 RGD:5685034, RGD:11038686 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tnf tumor necrosis factor severity ISO associated with Hemorrhagic Fever, Crimean RGD PMID:16518755 RGD:10450536 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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 term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke ClinVar PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 More... NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
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 OMIM
ClinVar
PMID:2647747 PMID:8562924 PMID:8902986 PMID:11204559 PMID:25741868 More... NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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 chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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 More... NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
JBrowse link
G Nrap nebulin-related anchoring protein ISO ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia ClinVar NCBI chr 1:255,350,113...255,427,704
Ensembl chr 1:255,350,113...255,427,693
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
DNA:missense mutation:exon:p.R87H (3203G>A) (human)
DNA:missense mutation:exon:p.A259T (8490G>A) (human)
CTD
RGD
PMID:14707701 PMID:18376272 PMID:21445774 PMID:33761690 PMID:8128429 More... RGD:1578392, RGD:11099985, RGD:11099984 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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 disease ClinVar PMID:32581362 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Protein S deficiency disease ClinVar PMID:32581362 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
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
RGD
PMID:7579449 PMID:7803790 PMID:8943854 PMID:9241758 PMID:9536098 More... RGD:1599209, RGD:11251679, RGD:11251677, RGD:11250419, RGD:11250419, RGD:11250418, RGD:11250415, RGD:1578677 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Protein S deficiency disease ClinVar PMID:32581362 NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:23079294 PMID:20002538 RGD:11060129, RGD:11060140 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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
RGD
PMID:3567158 PMID:6405779 PMID:7740448 PMID:13228032 PMID:19598065 More... RGD:1601108, RGD:10449425, RGD:10449424 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F7 coagulation factor VII IEP protein:decreased expression:plasma (rat) RGD PMID:2810399 RGD:2312318 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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 OMIM
ClinVar
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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 chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency OMIM
ClinVar
PMID:9414276 PMID:11057869 PMID:25741868 PMID:29108964 PMID:34355501 NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389
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 chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G F2 coagulation factor II ISO ClinVar Annotator: match by term: Thrombophilia due to thrombin defect OMIM
ClinVar
PMID:2222810 PMID:2429850 PMID:6305407 PMID:6405779 PMID:8696333 More... NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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 More... NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Habp2 hyaluronan binding protein 2 ISO OMIM NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT | ClinVar Annotator: match by term: Thrombophilia due to thrombin defect OMIM
ClinVar
PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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: Thrombomodulin-related bleeding disorder OMIM
ClinVar
PMID:7811989 PMID:9236408 PMID:9364978 PMID:9843165 PMID:10195941 More... NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome
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
RGD
PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 PMID:11586351 More... RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:7740478 PMID:7740478 RGD:11340214 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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: Thrombophilia, X-linked, due to factor IX defect OMIM
ClinVar
PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835
JBrowse link
X-Linked Thrombophilia due to Factor VIII Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO OMIM NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      hematopoietic system disease 2693
        blood coagulation disease 831
          thrombophilia 60
            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 VIII Defect 1
            X-linked thrombophilia due to factor IX defect 1
            antithrombin III deficiency 22
            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 18032
    disease of anatomical entity 17412
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          blood coagulation disease 831
            thrombophilia 60
              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 VIII Defect 1
              X-linked thrombophilia due to factor IX defect 1
              antithrombin III deficiency 22
              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