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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:Inherited Blood Coagulation Disease
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Accession:DOID:9002557 term browser browse the term
Definition:Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.
Synonyms:exact_synonym: hereditary blood coagulation disorders;   hereditary coagulation disorder;   hereditary coagulation disorders;   inherited blood coagulation diseases;   inherited blood coagulation disorders;   inherited coagulation disorder;   inherited coagulation disorders
 primary_id: MESH:D025861
 alt_id: DOID:2214
 xref: OMIM:PS277450;   ORDO:98429
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Inherited Blood Coagulation Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F7 coagulation factor VII treatment ISO RGD PMID:10469179 RGD:11041654 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO RGD PMID:9845520 RGD:1598791 NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17493413 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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
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 Kiaa0040 KIAA0040 ortholog 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 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 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 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 chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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
Bernard-Soulier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha treatment ISO ClinVar Annotator: match by term: Bernard Soulier syndrome
DNA:missense mutation, nonsense mutation: :p.C209S (715T>A) (human)
DNA:missense mutation: :p.N45S (1829A>G) (human)
DNA:missense mutation, deletion: :p.L129P, 4630_4631del (human)
DNA:missense mutation: :p.L129P (human)
DNA:missense mutation: :p.N126D (c.376A>G) (human)
DNA:missense mutation: :p.V262G (c.785T>G) (human)
OMIM
ClinVar
RGD
PMID:7855797 PMID:9326229 PMID:9326230 PMID:9639514 PMID:10089893 More... RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798, RGD:10450796 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta severity ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
DNA:deletion:cds:
DNA:mutations:cds:p.Y88C,A108P(human)
OMIM
ClinVar
RGD
PMID:10887115 PMID:17109744 PMID:25741868 PMID:31064749 PMID:32581362 More... RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Gp9 glycoprotein IX (platelet) severity ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
DNA:mutation:cds:p.C73Y(human)
OMIM
ClinVar
RGD
PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:10227459 More... RGD:13464128, RGD:11040531 NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
Bernard-Soulier syndrome type A2 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: Bernard-Soulier syndrome, type A2, autosomal dominant OMIM
ClinVar
PMID:1730088 PMID:7690774 PMID:7855797 PMID:9326229 PMID:9326230 More... NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO DNA:missense mutation: :p.A156V (515C>T) (human)
DNA:missense mutation: :p.N41H (169A>C) (human)
RGD PMID:11222377 PMID:18815197 RGD:10450832, RGD:10450842 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
Bernard-Soulier Syndrome, Type A 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: Bernard-Soulier syndrome, type A1 ClinVar PMID:1901273 PMID:2308962 PMID:7690774 PMID:7855797 PMID:9233564 More... NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type ClinVar PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 More... NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO DNA:missense mutations:cds:p.D21G, p.N45S (human)
ClinVar Annotator: match by term: Bernard-Soulier syndrome type C
ClinVar
RGD
PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:9886312 More... RGD:1599275 NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
JBrowse link
combined deficiency of vitamin K-dependent clotting factors 1 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: FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF | ClinVar Annotator: match by term: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III | ClinVar Annotator: match by term: GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT
DNA:missense mutations:cds:P.D31N,W157R,T157K(human)
DNA:mutations:splice site,exon:
OMIM
ClinVar
RGD
PMID:2145029 PMID:9845520 PMID:10934213 PMID:11071668 PMID:15287948 More... RGD:11040511, RGD:11040510 NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT ClinVar NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
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, type 2
DNA:missense mutation: :p.R98W (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:11154138 PMID:14765194 PMID:15358623 PMID:15883587 PMID:16270629 More... RGD:1303972 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency ClinVar PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16621965 More... NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds: (human)
ClinVar
CTD
OMIM
RGD
PMID:237956 PMID:1391954 PMID:2738154 PMID:3345340 PMID:3590111 More... RGD:5688762, RGD:11040559 NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia ClinVar
OMIM
RGD
PMID:1565641 PMID:3194892 PMID:10666208 PMID:10688828 PMID:11468164 More... RGD:737709 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:snp:intron:IVS3+5G>A (human)
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FIBRINOGEN PARIS 1 | ClinVar Annotator: match by term: Hypofibrinogenemia
DNA:nonsense mutation:exon:p.R134X (human)
ClinVar
OMIM
RGD
PMID:1249208 PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 More... RGD:737710, RGD:11352676 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2 OMIM
ClinVar
PMID:237956 PMID:1675636 PMID:1912564 PMID:2738154 PMID:3345340 More... NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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
RGD
PMID:25741868 PMID:28211264 PMID:30418131 PMID:24711018 PMID:12511408 RGD:10450765, RGD:10450766 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:deletion:intron:IVS9+1delG (human)
ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
DNA:missense mutation:exon:p.N308T (c.1001A>C) (human)
ClinVar
OMIM
RGD
PMID:1733971 PMID:2496144 PMID:2512677 PMID:2617471 PMID:2971042 More... RGD:11352672, RGD:11352691 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT ClinVar PMID:1565641 PMID:3194892 PMID:11468164 PMID:23061815 PMID:24679643 More... NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:missense mutation:exon:p.R375W (human)
DNA:missense mutation:exon:p.A341D (human
DNA:missense mutation:exon:p.T277R (7482G>C) (human)
DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human)
DNA:missense mutation: :p.S313N (7590G>A) (human)
DNA:missense mutations: :p.D316N, p.G366S (human)
DNA:frameshift mutation: :c.554delA (human)
ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia
ClinVar
RGD
PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 More... RGD:11352674, RGD:11352675, RGD:11352678, RGD:11352680, RGD:11352681, RGD:11352682, RGD:11352694 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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
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 ISO ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2
DNA:missense mutation: :p.D122V (human)
OMIM
ClinVar
RGD
PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749 More... RGD:11062141 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
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
DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human)
OMIM
ClinVar
RGD
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... RGD:11564334 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300
ClinVar Annotator: match by term: Factor V deficiency
ClinVar
RGD
PMID:25741868 PMID:9546392 RGD:1600100 NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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 chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
JBrowse link
G F7 coagulation factor VII ISO DNA:missense:R304Q, C310F
ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, insertion:exon:p.R277C, g.11520-11521insT (human)
ClinVar
CTD
OMIM
RGD
PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7974346 More... RGD:1601133, RGD:11049524 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11776297 RGD:11352263 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F8 coagulation factor VIII treatment ISO
IMP
IAGP
ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple
ClinVar
CTD
OMIM
RGD
PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... RGD:1582357, RGD:150520060, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage treatment IMP RGD PMID:24931420 PMID:31899798 RGD:11530071, RGD:150520060
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 F8em1Mcwi coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi treatment IMP RGD PMID:31899798 RGD:150520060
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168
JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital
CTD
ClinVar
PMID:1346975 PMID:1680287 PMID:1864609 PMID:1873221 PMID:1968152 More... NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835
JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2563431 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO RGD PMID:9157572 RGD:11041784 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:25955153 RGD:11073776 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
factor X deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adprhl1 ADP-ribosylhydrolase like 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,283,199...76,298,614
NCBI chr16:76,298,777...76,315,075
Ensembl chr16:76,283,103...76,354,440
JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,866,489...77,889,745
Ensembl chr16:77,864,261...77,889,745
JBrowse link
G Arhgef7 Rho guanine nucleotide exchange factor 7 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,671,021...77,782,593
Ensembl chr16:77,671,023...77,782,697
JBrowse link
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063
JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
JBrowse link
G Cdc16 cell division cycle 16 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,773,026...75,796,586
Ensembl chr16:75,773,028...75,796,550
JBrowse link
G Cfap97d2 CFAP97 domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,802,434...75,827,040
Ensembl chr16:75,802,434...75,826,853
JBrowse link
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,733,958...75,744,977
Ensembl chr16:75,733,805...75,744,984
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Cul4a cullin 4A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,385,298...76,422,316
Ensembl chr16:76,384,546...76,422,330
JBrowse link
G Dcun1d2 defective in cullin neddylation 1 domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,254,433...76,281,139
Ensembl chr16:76,254,413...76,281,146
JBrowse link
G F10 coagulation factor X ISO DNA:point mutations:R366C;DNA:frameshift
ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10 DEFICIENCY | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY
DNA:deletion:cds:c.302delG(human)
ClinVar
OMIM
RGD
PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:3408671 More... RGD:1601104, RGD:11041731 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Congenital factor X deficiency ClinVar PMID:25741868 PMID:31064749 NCBI chr16:46,986,107...47,009,015
Ensembl chr16:46,986,107...47,008,437
JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 PMID:34355501 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Gas6 growth arrest specific 6 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792
JBrowse link
G Grtp1 growth hormone regulated TBC protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,332,777...76,356,414
Ensembl chr16:76,283,103...76,354,440
JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Lamp1 lysosomal-associated membrane protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,355,982...76,380,700
Ensembl chr16:76,355,984...76,381,883
JBrowse link
G LOC290876 similar to RIKEN cDNA 1700029H14 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,974,501...75,987,629
Ensembl chr16:75,975,463...75,987,628
JBrowse link
G Mcf2l MCF.2 cell line derived transforming sequence-like ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,507,133...76,652,893
Ensembl chr16:76,507,133...76,652,733
JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:78,884,405...79,364,445
Ensembl chr16:78,884,406...79,248,388
JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
JBrowse link
G Pcid2 PCI domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,423,245...76,448,712
Ensembl chr16:76,423,245...76,448,712
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480
JBrowse link
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:78,019,337...78,043,529
Ensembl chr16:78,019,337...78,043,529
JBrowse link
G Rasa3 RAS p21 protein activator 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,855,360...75,969,349
Ensembl chr16:75,855,265...75,970,804
JBrowse link
G Sox1 SRY-box transcription factor 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,134,795...77,139,628
Ensembl chr16:77,137,584...77,138,762
JBrowse link
G Spaca7 sperm acrosome associated 7 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,928,611...76,955,555
Ensembl chr16:76,928,581...76,955,543
JBrowse link
G Tex29 testis expressed 29 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:77,650,471...77,670,896
Ensembl chr16:77,650,473...77,664,116
JBrowse link
G Tfdp1 transcription factor Dp-1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,162,040...76,200,871
Ensembl chr16:76,162,043...76,200,817
JBrowse link
G Tmco3 transmembrane and coiled-coil domains 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,217,146...76,254,309
Ensembl chr16:76,217,201...76,254,107
JBrowse link
G Tmem255b transmembrane protein 255B ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,079,840...76,108,179
Ensembl chr16:76,079,845...76,106,795
JBrowse link
G Tubgcp3 tubulin, gamma complex associated protein 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:76,851,859...76,912,499
Ensembl chr16:76,851,810...76,912,499
JBrowse link
G Upf3a UPF3A, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr16:75,757,442...75,768,478
Ensembl chr16:75,757,441...75,769,345
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:25741868 PMID:32581362 PMID:34355501 NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
JBrowse link
G Dux4 double homeobox 4 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency
DNA:nonsense mutation:exon:G263X(human)
DNA:missense, nonsense, duplication, deletion:cds:
ClinVar
OMIM
RGD
PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 More... RGD:1598923, RGD:11041742, RGD:11041741 NCBI chr16:46,986,107...47,009,015
Ensembl chr16:46,986,107...47,008,437
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Frg1 FSHD region gene 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:50,925,783...50,946,661
Ensembl chr16:50,925,803...50,946,661
JBrowse link
G Frg2 FSHD region gene 2 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr14:80,427,260...80,429,560
Ensembl chr14:80,427,673...80,429,181
JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:32581362 PMID:34355501 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
JBrowse link
G Mtnr1a melatonin receptor 1A ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
JBrowse link
G Triml1 tripartite motif family-like 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:48,994,968...49,005,343
Ensembl chr16:48,997,252...49,005,417
JBrowse link
G Triml2 tripartite motif family-like 2 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:48,944,838...48,955,453
Ensembl chr16:48,944,838...48,955,453
JBrowse link
G Zfp42 zinc finger protein 42 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr16:48,836,463...48,845,443
Ensembl chr16:48,836,648...48,845,401
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
DNA:deletion mutations, transversion mutation:introns, exon:
DNA:missense, nonsense, deletion mutations:cds:
DNA:polymorphism:promoter:-46C>T(human)
ClinVar
OMIM
RGD
PMID:8528215 PMID:9354665 PMID:9490684 PMID:9536098 PMID:10361128 More... RGD:1601107, RGD:11041805, RGD:11041772, RGD:11041769 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO 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:9536098 PMID:10361128 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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
RGD
PMID:1644910 PMID:31136071 PMID:21512576 PMID:23508224 PMID:19937244 More... RGD:10450726, RGD:11041869, RGD:10450730, RGD:10450729, RGD:10450727 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
JBrowse link
G F13b coagulation factor XIII B chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease
CTD
ClinVar
PMID:2334637 PMID:25741868 NCBI chr13:51,130,851...51,156,383
Ensembl chr13:51,130,920...51,156,381
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300 RGD PMID:9546392 RGD:1600100 NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851
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 | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of
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
RGD
PMID:1353995 PMID:7236530 PMID:7727776 PMID:7918041 PMID:8025280 More... RGD:11041856, RGD:11041811 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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
DNA:mutations:multiple:
OMIM
ClinVar
RGD
PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 More... RGD:10450738 NCBI chr13:51,130,851...51,156,383
Ensembl chr13:51,130,920...51,156,381
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 OMIM
ClinVar
PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851
JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
JBrowse link
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy ClinVar PMID:25741868 PMID:34355501 NCBI chr11:32,876,563...32,884,234 JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy ClinVar PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 PMID:21626672 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G Mir802 microRNA 802 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy ClinVar PMID:25741868 PMID:34355501 NCBI chr11:32,626,525...32,626,620
Ensembl chr11:32,626,525...32,626,620
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Platelet disorder, Aspirin-like OMIM
ClinVar
PMID:1958483 PMID:9536098 PMID:9837750 PMID:10068652 PMID:10508512 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy ClinVar PMID:25741868 PMID:34355501 NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
JBrowse link
Glanzmann Thrombasthenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 OMIM
ClinVar
PMID:1317725 PMID:1702098 PMID:1926040 PMID:2014236 PMID:7508443 More... NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 ClinVar PMID:1602006 PMID:9351872 PMID:11776310 PMID:15583747 PMID:25539746 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
Glanzmann Thrombasthenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 2 OMIM
ClinVar
PMID:1371279 PMID:1438206 PMID:1602006 PMID:2014236 PMID:2392682 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
Glanzmann's thrombasthenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar PMID:123456 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
G Itga2 integrin subunit alpha 2 severity ISO RGD PMID:14687991 RGD:1582297 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga2b integrin subunit alpha 2b ISO DNA:insertion/deletion:exon
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
ClinVar
CTD
RGD
PMID:1317725 PMID:1638023 PMID:1926040 PMID:2014236 PMID:7508443 More... RGD:10755476, RGD:10755480 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 More... RGD:10755474 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 ClinVar PMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:20301684 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
gray platelet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Gray platelet syndrome ClinVar NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO DNA:nonsense mutation:c.859C>T, p.Gln287X(human) RGD PMID:24325358 RGD:11040508 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Gray platelet syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 More... NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707
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: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G F9 coagulation factor IX treatment ISO ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B Leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:P.G396R,K411X,I397T(human)
DNA:nonsense mutation:cds:p.R338X (human)
ClinVar
CTD
OMIM
RGD
PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 More... RGD:9685705, RGD:10450764, RGD:10450762, RGD:10450761, RGD:10450760, RGD:10450759 NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835
JBrowse link
G LOC688842 hypothetical protein LOC688842 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707
JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:139,308,608...139,310,734
Ensembl chr  X:139,309,329...139,310,678
JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
DNA:duplication, deletions:introns, exons: (mouse)
ClinVar
RGD
PMID:24033266 PMID:25741868 PMID:28492532 PMID:12125811 PMID:11056055 More... RGD:1578409, RGD:11087577, RGD:11087576 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:25741868 PMID:31064749 NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISS MouseDO NCBI chr14:74,043,025...74,044,325
Ensembl chr14:74,043,015...74,044,531
JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome MouseDO
ClinVar
PMID:32565547 NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:22461475 PMID:26575419 PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO DNA:deletion:intron, exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
RGD
PMID:24033266 PMID:12923531 RGD:11251756 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9562579 More... NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO DNA:deletion:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More... RGD:1599538 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense,frameshift,insertion mutations:cds:
DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)
ClinVar
CTD
RGD
PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 PMID:12664304 More... RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:21833017 PMID:23607980 PMID:24698632 PMID:25741868 PMID:28492532 More... RGD:11072072 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar
CTD
RGD
PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More... RGD:632833, RGD:11073544 NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
JBrowse link
G Kxd1 KxDL motif containing 1 ISS MouseDO NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:19897744 RGD:2324690 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP RGD PMID:19897744 RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha ISS MouseDO NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS MouseDO NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISS MouseDO NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393
JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:203300 MouseDO NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO DNA:duplication:exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
ClinVar
OMIM
RGD
PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9562579 More... RGD:1625056 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:203300 MouseDO NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar
PMID:25741868 PMID:26744459 PMID:28492532 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
Hermansky-Pudlak Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 OMIM
ClinVar
PMID:32565547 NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 OMIM
ClinVar
PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More... NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS
ISO
OMIM:608233
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
MouseDO
ClinVar
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:11590544 PMID:28492532 PMID:31898847 PMID:32581362 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 ClinVar PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
DNA:splice-site mutation:intron:1303+1G>A (human)
OMIM
ClinVar
RGD
PMID:11455388 PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 More... RGD:11041885 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis ClinVar PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 OMIM
ClinVar
PMID:11836498 PMID:12664304 PMID:15108212 PMID:20158590 PMID:24033266 More... NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 OMIM
ClinVar
PMID:12548288 PMID:15296495 PMID:21833017 PMID:22995991 PMID:23607980 More... NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 OMIM
ClinVar
PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 OMIM
ClinVar
PMID:12923531 PMID:23364359 PMID:25741868 PMID:28259707 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 OMIM
ClinVar
PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar
PMID:22461475 PMID:25741868 PMID:26575419 PMID:28492532 PMID:33543539 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
high molecular weight kininogen deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kng2 kininogen 2 ISO DNA:misense mutation:cds:
ClinVar Annotator: match by term: High molecular weight kininogen deficiency | ClinVar Annotator: match by term: Kininogen deficiency, total
ClinVar
OMIM
RGD
PMID:1202089 PMID:1968772 PMID:7901207 PMID:12576314 PMID:17522339 More... RGD:1600407 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
JBrowse link
platelet-type bleeding disorder 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 10 OMIM
ClinVar
PMID:7533783 PMID:7686693 PMID:8696942 PMID:10890433 PMID:10946357 More... NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:18820218 RGD:13208509 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
platelet-type bleeding disorder 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp6 glycoprotein VI ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 11 OMIM
ClinVar
PMID:19549989 PMID:19552682 PMID:23815599 PMID:25741868 PMID:28492532 More... NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
JBrowse link
platelet-type bleeding disorder 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
JBrowse link
platelet-type bleeding disorder 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 OMIM
ClinVar
PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:26453073 More... NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206 PMID:26316623 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
platelet-type bleeding disorder 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
DNA:mutation:cds:p.G13V(human)
DNA:missense mutation: :p.N2D (97A>G) (human)
DNA:mutations:promoter, exon:multiple
OMIM
ClinVar
RGD
PMID:1638023 PMID:9215749 PMID:9834222 PMID:10607701 PMID:15099289 More... RGD:10766467, RGD:10755470, RGD:10755469, RGD:10755462 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb3 integrin subunit beta 3 ISO
ISS
DNA:missense mutations, deletions, insertion:exon:multiple
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
OMIM:187800
ClinVar
MouseDO
RGD
PMID:1371279 PMID:9351872 PMID:19570064 PMID:19821948 PMID:20804530 More... RGD:10755462, RGD:10755470, RGD:10755466 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
platelet-type bleeding disorder 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 OMIM
ClinVar
PMID:1065298 PMID:5681484 PMID:23927492 PMID:25741868 PMID:28041820 More... NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
platelet-type bleeding disorder 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 OMIM
ClinVar
PMID:24958846 PMID:25741868 PMID:27235135 PMID:28983057 PMID:31064749 More... NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993
JBrowse link
platelet-type bleeding disorder 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 OMIM
ClinVar
PMID:25741868 PMID:26280575 PMID:26769223 PMID:28492532 PMID:29678925 More... NCBI chr10:68,076,326...68,087,794 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
OMIM
ClinVar
RGD
PMID:2052556 PMID:8384898 PMID:8486780 PMID:25741868 PMID:31064749 More... RGD:10450823, RGD:10450814, RGD:10450803 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
platelet-type bleeding disorder 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 ClinVar PMID:7706468 PMID:11196645 PMID:20966167 PMID:25741868 PMID:29117459 More... NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 OMIM
ClinVar
PMID:7706468 PMID:11196645 PMID:20966167 PMID:25741868 PMID:29117459 More... NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
JBrowse link
platelet-type bleeding disorder 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 OMIM
ClinVar
PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr 2:46,504,574...46,516,327
Ensembl chr 2:46,504,588...46,516,324
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
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
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 OMIM
ClinVar
PMID:18988861 PMID:20007542 PMID:25741868 PMID:28492532 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
Scott syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano6 anoctamin 6 ISO ClinVar Annotator: match by term: SCOTT SYNDROME OMIM
ClinVar
PMID:7989579 PMID:21107324 PMID:28492532 NCBI chr 7:126,933,629...127,113,589
Ensembl chr 7:126,933,936...127,113,589
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
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 ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:32581362 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
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 More... NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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's disease ClinVar
MouseDO
RGD
PMID:1301136 PMID:1302613 PMID:1324533 PMID:1380739 PMID:1415226 More... RGD:1331525, RGD:11079196 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga2b integrin subunit alpha 2b severity ISO DNA:haplotype:cds: RGD PMID:15226188 RGD:10766468 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: VWD, TYPE 1 | ClinVar Annotator: match by term: von Willebrand disease type 1 | ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to
protein:decreased expression:plasma
DNA:mutation:exon:p.C386R(human)
OMIM
ClinVar
RGD
PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1672694 More... RGD:10766468, RGD:11079205 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G Itga2 integrin subunit alpha 2 severity ISO DNA:haplotype:promoter: RGD PMID:16409463 RGD:10766469 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itga2b integrin subunit alpha 2b no_association ISO DNA:haplotype:: RGD PMID:16409463 RGD:10766469 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Vwf von Willebrand factor treatment ISO ClinVar Annotator: match by term: VON WILLEBRAND FACTOR POLYMORPHISM | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N
protein:decreased expression:plasma
DNA:deletion:cds:del K 1405-1408(human)
p. R1306Q,V1316M(mouse)
DNA:missense mutation:cds:p.M1304R(human)
OMIM
ClinVar
RGD
PMID:1324533 PMID:1380739 PMID:1409710 PMID:1419803 PMID:1419804 More... RGD:10766469, RGD:11079206, RGD:11079203, RGD:11079202, RGD:11079201, RGD:11079200 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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
DNA:deletions:exons:
OMIM
ClinVar
RGD
PMID:1301136 PMID:1302613 PMID:1415226 PMID:7989040 PMID:8134377 More... RGD:11079204 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
Wiskott-Aldrich syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp3 forkhead box P3 ISS OMIM:301000 | OMIM:614493 MouseDO NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Was WASP actin nucleation promoting factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated
OMIM
CTD
ClinVar
RGD
PMID:2906042 PMID:7579329 PMID:7579347 PMID:7735919 PMID:7753869 More... RGD:1599803 NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Washc4 WASH complex subunit 4 ISS OMIM:301000 MouseDO NCBI chr 7:20,187,905...20,240,228
Ensembl chr 7:20,187,922...20,240,226
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742
JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wipf1 WAS/WASL interacting protein family, member 1 ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 More... NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      hematopoietic system disease 2966
        blood coagulation disease 863
          Inherited Blood Coagulation Disease 175
            Bernard-Soulier syndrome + 4
            Dysprothrombinemia 0
            Essential Athrombia 0
            Familial Multiple Coagulation Factor Deficiency II 0
            Familial Multiple Coagulation Factor Deficiency IV 0
            Familial Multiple Coagulation Factor Deficiency V 0
            Familial Multiple Coagulation Factor Deficiency VI 0
            Familial Platelet Disorder with Associated Myeloid Malignancy 5
            Glanzmann's thrombasthenia + 6
            Hermansky-Pudlak syndrome + 23
            Passovoy Factor 0
            Pechet Factor Deficiency 0
            Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 0
            Scott syndrome 1
            Wiskott-Aldrich syndrome + 4
            antithrombin III deficiency 22
            congenital afibrinogenemia + 5
            factor V deficiency + 5
            factor VII deficiency 2
            factor VIII deficiency + 28
            factor X deficiency 38
            factor XI deficiency 11
            factor XII deficiency 2
            factor XIII deficiency + 3
            gray platelet syndrome + 3
            hemophilia B 7
            hereditary combined deficiency of vitamin K-dependent clotting factors + 3
            high molecular weight kininogen deficiency 1
            platelet-type bleeding disorder 10 2
            platelet-type bleeding disorder 11 1
            platelet-type bleeding disorder 12 0
            platelet-type bleeding disorder 14 1
            platelet-type bleeding disorder 15 2
            platelet-type bleeding disorder 17 1
            platelet-type bleeding disorder 18 1
            platelet-type bleeding disorder 19 0
            platelet-type bleeding disorder 20 1
            platelet-type bleeding disorder 3 1
            platelet-type bleeding disorder 8 2
            platelet-type bleeding disorder 9 2
            protein C deficiency + 2
            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 18215
    disease of anatomical entity 17576
      Hemic and Lymphatic Diseases 3425
        hematopoietic system disease 2966
          blood coagulation disease 863
            Inherited Blood Coagulation Disease 175
              Bernard-Soulier syndrome + 4
              Dysprothrombinemia 0
              Essential Athrombia 0
              Familial Multiple Coagulation Factor Deficiency II 0
              Familial Multiple Coagulation Factor Deficiency IV 0
              Familial Multiple Coagulation Factor Deficiency V 0
              Familial Multiple Coagulation Factor Deficiency VI 0
              Familial Platelet Disorder with Associated Myeloid Malignancy 5
              Glanzmann's thrombasthenia + 6
              Hermansky-Pudlak syndrome + 23
              Passovoy Factor 0
              Pechet Factor Deficiency 0
              Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 0
              Scott syndrome 1
              Wiskott-Aldrich syndrome + 4
              antithrombin III deficiency 22
              congenital afibrinogenemia + 5
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 28
              factor X deficiency 38
              factor XI deficiency 11
              factor XII deficiency 2
              factor XIII deficiency + 3
              gray platelet syndrome + 3
              hemophilia B 7
              hereditary combined deficiency of vitamin K-dependent clotting factors + 3
              high molecular weight kininogen deficiency 1
              platelet-type bleeding disorder 10 2
              platelet-type bleeding disorder 11 1
              platelet-type bleeding disorder 12 0
              platelet-type bleeding disorder 14 1
              platelet-type bleeding disorder 15 2
              platelet-type bleeding disorder 17 1
              platelet-type bleeding disorder 18 1
              platelet-type bleeding disorder 19 0
              platelet-type bleeding disorder 20 1
              platelet-type bleeding disorder 3 1
              platelet-type bleeding disorder 8 2
              platelet-type bleeding disorder 9 2
              protein C deficiency + 2
              prothrombin deficiency + 2
              thrombophilia due to activated protein C resistance 4
              von Willebrand's disease + 8
paths to the root