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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

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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 chrNW_004936472:505,751...515,375
Ensembl chrNW_004936472:505,751...514,339 		JBrowse link
G Ggcx gamma-glutamyl carboxylase ISO mutation: L394R RGD PMID:9845520 RGD:1598791 NCBI chrNW_004936712:1,696,264...1,709,087
Ensembl chrNW_004936712:1,699,750...1,709,087 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17493413 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		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 ISO associated with Sepsis;protein:increased activity:lung (rat) RGD PMID:18182560 RGD:11080962 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		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 NCBI chrNW_004936481:14,130,319...14,161,114
Ensembl chrNW_004936481:14,136,920...14,164,198 		JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:13,198,744...13,203,518 JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:14,052,816...14,063,066
Ensembl chrNW_004936481:14,052,810...14,064,101 		JBrowse link
G Cop1 COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:12,262,415...12,437,627
Ensembl chrNW_004936481:12,262,409...12,437,571 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:14,029,478...14,052,724
Ensembl chrNW_004936481:14,027,772...14,052,806 		JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:13,588,705...13,593,018 JBrowse link
G Kiaa0040 KIAA0040 ortholog ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:13,044,194...13,076,700 JBrowse link
G Klhl20 kelch like family member 20 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:14,074,169...14,111,634
Ensembl chrNW_004936481:14,071,470...14,111,838 		JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:13,192,030...13,195,812
Ensembl chrNW_004936481:13,192,021...13,195,806 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:14,223,422...14,233,634
Ensembl chrNW_004936481:14,222,696...14,233,641 		JBrowse link
G Rabgap1l RAB GTPase activating protein 1 like ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:13,213,465...13,771,188
Ensembl chrNW_004936481:13,218,553...13,749,173 		JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:13,919,006...13,973,868
Ensembl chrNW_004936481:13,919,257...13,966,677 		JBrowse link
G Serpinc1 serpin family C member 1 susceptibility ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar Annotator: match by term: Reduced antithrombin III activity OMIM
ClinVar
RGD		 PMID:1325679 PMID:1360174 PMID:1421387 PMID:1469094 PMID:1483705 More... RGD:1599321 NCBI chrNW_004936481:13,981,014...13,993,750
Ensembl chrNW_004936481:13,981,019...13,993,634 		JBrowse link
G Slc9c2 solute carrier family 9 member C2 (putative) ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:14,167,249...14,220,860 JBrowse link
G Tex50 testis expressed 50 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:14,499,495...14,508,074
Ensembl chrNW_004936481:14,499,577...14,508,017 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:14,391,359...14,409,514 JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:13,085,325...13,149,840
Ensembl chrNW_004936481:13,086,297...13,158,490 		JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:12,586,460...12,972,348
Ensembl chrNW_004936481:12,787,536...12,965,327 		JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chrNW_004936481:13,986,826...14,020,854
Ensembl chrNW_004936481:14,009,281...14,021,139 		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 Ammecr1l AMMECR1 like ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,445,707...43,471,170
Ensembl chrNW_004936469:43,445,725...43,471,226 		JBrowse link
G Bin1 bridging integrator 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:44,128,308...44,185,739
Ensembl chrNW_004936469:44,127,970...44,185,246 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,970,002...43,998,279
Ensembl chrNW_004936469:43,969,740...43,998,448 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,652,244...43,656,661
Ensembl chrNW_004936469:43,653,481...43,654,497 		JBrowse link
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,039,494...43,086,041
Ensembl chrNW_004936469:43,039,488...43,087,768 		JBrowse link
G Iws1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,766,699...43,805,919
Ensembl chrNW_004936469:43,766,663...43,808,333 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,628,280...43,665,145
Ensembl chrNW_004936469:43,634,074...43,665,175 		JBrowse link
G LOC101970102 cytochrome P450 27C1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:44,016,925...44,042,569 JBrowse link
G Map3k2 mitogen-activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,880,816...43,958,556
Ensembl chrNW_004936469:43,880,468...43,958,556 		JBrowse link
G Myo7b myosin VIIB ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,665,836...43,732,680
Ensembl chrNW_004936469:43,666,057...43,728,167 		JBrowse link
G Polr2d RNA polymerase II subunit D ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,482,557...43,495,449
Ensembl chrNW_004936469:43,482,507...43,495,441 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency | 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 chrNW_004936469:43,841,989...43,850,322
Ensembl chrNW_004936469:43,841,989...43,850,304 		JBrowse link
G Sap130 Sin3A associated protein 130 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,315,175...43,386,644
Ensembl chrNW_004936469:43,317,008...43,388,184 		JBrowse link
G Sft2d3 SFT2 domain containing 3 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,613,952...43,615,855 JBrowse link
G Uggt1 UDP-glucose glycoprotein glucosyltransferase 1 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,140,469...43,247,486
Ensembl chrNW_004936469:43,140,455...43,247,539 		JBrowse link
G Wdr33 WD repeat domain 33 ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chrNW_004936469:43,505,507...43,610,851
Ensembl chrNW_004936469:43,505,476...43,610,851 		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 chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		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:1301954 PMID:1301959 PMID:1347608 PMID:1347706 PMID:1348046 More... NCBI chrNW_004936469:43,841,989...43,850,322
Ensembl chrNW_004936469:43,841,989...43,850,304 		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: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency RGD
OMIM
ClinVar		 PMID:7579348 PMID:7855797 PMID:8950770 PMID:9233564 PMID:9326229 More... RGD:10450833 NCBI chrNW_004936677:2,774,076...2,779,660 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)		 OMIM
ClinVar
RGD		 PMID:10887115 PMID:17109744 PMID:25741868 PMID:28131619 PMID:28492532 More... RGD:13464128 NCBI chrNW_004936619:3,627,649...3,629,129
Ensembl chrNW_004936619:3,627,999...3,628,859 		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)		 OMIM
ClinVar
RGD		 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:11167791 More... RGD:13464128 NCBI chrNW_004936798:170,654...171,625 JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome ClinVar PMID:10887115 PMID:17109744 PMID:25741868 PMID:28492532 PMID:31064749 More... NCBI chrNW_004936619:3,619,008...3,627,762
Ensembl chrNW_004936619:3,618,597...3,630,264 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		JBrowse link
Bernard-Soulier Syndrome Type A1 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:1694864 PMID:1901273 PMID:2308962 PMID:7690774 PMID:7855797 More... NCBI chrNW_004936677:2,774,076...2,779,660 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:1694864 PMID:1730088 PMID:7579348 PMID:7690774 PMID:7855797 More... NCBI chrNW_004936677:2,774,076...2,779,660 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 chrNW_004936677:2,774,076...2,779,660 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 chrNW_004936619:3,627,649...3,629,129
Ensembl chrNW_004936619:3,627,999...3,628,859 		JBrowse link
G Septin5 septin 5 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 chrNW_004936619:3,619,008...3,627,762
Ensembl chrNW_004936619:3,618,597...3,630,264 		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 ClinVar Annotator: match by term: Bernard-Soulier syndrome type C ClinVar PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024 PMID:9886312 More... NCBI chrNW_004936798:170,654...171,625 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: GGCX-related condition | ClinVar Annotator: match by term: GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT OMIM
ClinVar		 PMID:2145029 PMID:9845520 PMID:10934213 PMID:11071668 PMID:15287948 More... NCBI chrNW_004936712:1,696,264...1,709,087
Ensembl chrNW_004936712:1,699,750...1,709,087 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT ClinVar NCBI chrNW_004936712:1,710,513...1,717,339
Ensembl chrNW_004936712:1,709,716...1,717,499 		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 OMIM
ClinVar		 PMID:11154138 PMID:14765194 PMID:15358623 PMID:15883587 PMID:16270629 More... NCBI chrNW_004936501:13,459,400...13,461,864
Ensembl chrNW_004936501:13,459,022...13,462,174 		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 chrNW_004936469:10,521,576...10,599,005
Ensembl chrNW_004936469:10,521,576...10,599,005 		JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency		 ClinVar PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More... NCBI chrNW_004936563:960,883...998,136
Ensembl chrNW_004936563:960,883...988,634 		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
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency | ClinVar Annotator: match by term: Hypofibrinogenemia		 OMIM
ClinVar		 PMID:237956 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 More... NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FGB-related condition | ClinVar Annotator: match by term: Hypofibrinogenemia OMIM
ClinVar		 PMID:1565641 PMID:3194892 PMID:10666208 PMID:10688828 PMID:11468164 More... NCBI chrNW_004936576:1,306,076...1,313,485
Ensembl chrNW_004936576:1,306,109...1,313,386 		JBrowse link
G Fgg fibrinogen gamma chain ISO 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 OMIM
ClinVar		 PMID:1249208 PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 More... NCBI chrNW_004936576:1,343,657...1,352,085
Ensembl chrNW_004936576:1,343,661...1,352,143 		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, congenital | ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2 OMIM
ClinVar		 PMID:1675636 PMID:1912564 PMID:2738154 PMID:3345340 PMID:3590111 More... NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Dysfibrinogenemia, congenital OMIM
ClinVar		 PMID:10688828 PMID:19229055 PMID:19420351 PMID:20978265 PMID:21959590 More... NCBI chrNW_004936576:1,306,076...1,313,485
Ensembl chrNW_004936576:1,306,109...1,313,386 		JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3 OMIM
ClinVar		 PMID:1733971 PMID:2328317 PMID:2496144 PMID:2512677 PMID:2617471 More... NCBI chrNW_004936576:1,343,657...1,352,085
Ensembl chrNW_004936576:1,343,661...1,352,143 		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: FIBRINOGEN ROUEN 1 | ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital ClinVar PMID:2742828 PMID:4084461 PMID:6575689 PMID:9536098 PMID:10891444 More... NCBI chrNW_004936576:1,322,406...1,329,743 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 chrNW_004936576:1,306,076...1,313,485
Ensembl chrNW_004936576:1,306,109...1,313,386 		JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia ClinVar PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 More... NCBI chrNW_004936576:1,343,657...1,352,085
Ensembl chrNW_004936576:1,343,661...1,352,143 		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, thrombin susceptibility ISO 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 ClinVar
OMIM		 PMID:444582 PMID:625142 PMID:1349838 PMID:1421398 PMID:1557383 More... NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		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 ClinVar Annotator: match by term: Reduced protein C activity ClinVar PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:1868249 More... NCBI chrNW_004936469:43,841,989...43,850,322
Ensembl chrNW_004936469:43,841,989...43,850,304 		JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2 OMIM
ClinVar		 PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:25741909 More... NCBI chrNW_004936508:5,392,275...5,419,267
Ensembl chrNW_004936508:5,410,674...5,420,012 		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 susceptibility ISO ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: LABILE FACTOR DEFICIENCY | ClinVar Annotator: match by term: PARAHEMOPHILIA ClinVar
OMIM		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844 		JBrowse link
G Lman1 lectin, mannose binding 1 ISO ClinVar Annotator: match by term: Factor V deficiency ClinVar PMID:25741868 NCBI chrNW_004936497:5,383,636...5,409,347
Ensembl chrNW_004936497:5,383,524...5,408,452 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chrNW_004936506:10,103,120...10,172,800
Ensembl chrNW_004936506:10,103,139...10,171,863 		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 chrNW_004936472:475,851...502,341
Ensembl chrNW_004936472:475,333...502,377 		JBrowse link
G F7 coagulation factor VII susceptibility ISO ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency ClinVar
OMIM		 PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7974346 More... NCBI chrNW_004936472:505,751...515,375
Ensembl chrNW_004936472:505,751...514,339 		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 chrNW_004936588:3,985,732...4,023,221 JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11776297 RGD:11352263 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215 		JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chrNW_004936502:13,391,613...13,398,723
Ensembl chrNW_004936502:13,391,535...13,397,440 		JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Hemophilia ClinVar PMID:25741868 NCBI chrNW_004936472:505,751...515,375
Ensembl chrNW_004936472:505,751...514,339 		JBrowse link
G F8 coagulation factor VIII treatment ISO ClinVar Annotator: match by term: F8-related condition | 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 | ClinVar Annotator: match by term: Hemophilia, classic OMIM
ClinVar
RGD		 PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... RGD:10450757 RGD:150520060 NCBI chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		JBrowse link
G F8a1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 PMID:22759210 NCBI chrNW_004936927:234,162...236,881 JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chrNW_004936513:8,052,998...8,090,245
Ensembl chrNW_004936513:8,053,615...8,090,234 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2105106 PMID:2563431 NCBI chrNW_004936927:304,162...318,271
Ensembl chrNW_004936927:304,197...318,271 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311 		JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		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 chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G LOC101967165 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 PMID:22759210 NCBI chrNW_004936927:232,353...232,857 JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chrNW_004936927:147,448...170,435
Ensembl chrNW_004936927:147,282...170,575 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
severity		 ISO DNA:SNP: :1298A>C (human)
DNA:SNP: :677C>T (human)		 RGD PMID:22411997 RGD:10449409 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chrNW_004936785:476,200...503,371
Ensembl chrNW_004936785:476,078...503,321 		JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chrNW_004936927:171,867...186,718 JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:22355108 PMID:24263002 PMID:24687919 RGD:11060141 RGD:11060147 RGD:11060256 NCBI chrNW_004936506:10,103,120...10,172,800
Ensembl chrNW_004936506:10,103,139...10,171,863 		JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		JBrowse link
G Vwf von Willebrand factor treatment ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital RGD
ClinVar		 PMID:25741868 PMID:25955153 RGD:11073776 NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		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 chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		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 chrNW_004936472:309,850...328,332 JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:2,025,701...2,055,956
Ensembl chrNW_004936472:2,025,695...2,056,126 		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 chrNW_004936472:1,784,215...1,857,296
Ensembl chrNW_004936472:1,784,195...1,874,774 		JBrowse link
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:665,967...750,396
Ensembl chrNW_004936472:669,155...730,035 		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 chrNW_004936472:168,745...173,996
Ensembl chrNW_004936472:168,750...173,968 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:2,144,407...2,180,431
Ensembl chrNW_004936472:2,144,335...2,180,392 		JBrowse link
G Cdc16 cell division cycle 16 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004937030:217,078...242,126
Ensembl chrNW_004937030:216,744...241,196 		JBrowse link
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004937030:268,400...279,341
Ensembl chrNW_004937030:274,074...276,515 		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 chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		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 chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349 		JBrowse link
G Cul4a cullin 4A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:409,083...432,442
Ensembl chrNW_004936472:408,659...432,379 		JBrowse link
G CUNH13orf46 chromosome unknown C13orf46 homolog ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004937030:30,667...37,589
Ensembl chrNW_004937030:30,911...37,589 		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 chrNW_004936472:285,927...308,123
Ensembl chrNW_004936472:285,990...308,164 		JBrowse link
G F10 coagulation factor X ISO 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 OMIM
ClinVar		 PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:3408671 More... NCBI chrNW_004936472:475,851...502,341
Ensembl chrNW_004936472:475,333...502,377 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 PMID:34355501 NCBI chrNW_004936472:505,751...515,375
Ensembl chrNW_004936472:505,751...514,339 		JBrowse link
G Gas6 growth arrest specific 6 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:27,116...57,158
Ensembl chrNW_004936472:32,123...54,028 		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 chrNW_004936472:152,202...165,134
Ensembl chrNW_004936472:151,854...165,281 		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 chrNW_004936472:352,515...376,358
Ensembl chrNW_004936472:352,463...376,382 		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 chrNW_004936472:2,132,991...2,140,343 JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:2,772,187...2,796,398 JBrowse link
G Lamp1 lysosomal associated membrane protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:377,359...389,121
Ensembl chrNW_004936472:378,173...389,381 		JBrowse link
G LOC101967202 coagulation factor XI ISO ClinVar Annotator: match by term: Congenital factor X deficiency ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936554:3,205,539...3,223,228
Ensembl chrNW_004936554:3,205,539...3,219,311 		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 chrNW_004936472:520,129...629,190
Ensembl chrNW_004936472:519,944...659,111 		JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:3,157,508...3,548,164
Ensembl chrNW_004936472:3,212,773...3,574,114 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:2,182,444...2,200,341
Ensembl chrNW_004936472:2,181,650...2,200,499 		JBrowse link
G Pcid2 PCI domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:440,440...464,116
Ensembl chrNW_004936472:446,712...465,039 		JBrowse link
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:2,234,826...2,264,613
Ensembl chrNW_004936472:2,234,873...2,264,622 		JBrowse link
G Rasa3 RAS p21 protein activator 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004937030:40,123...122,478
Ensembl chrNW_004937030:40,116...122,490 		JBrowse link
G Spaca7 sperm acrosome associated 7 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501
G Tex29 testis expressed 29 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501
G Tfdp1 transcription factor Dp-1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:184,808...214,628
Ensembl chrNW_004936472:184,786...214,630 		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 chrNW_004936472:248,518...285,724
Ensembl chrNW_004936472:248,979...280,977 		JBrowse link
G Tmem255b transmembrane protein 255B ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:67,741...133,058
Ensembl chrNW_004936472:67,295...133,080 		JBrowse link
G Tubgcp3 tubulin gamma complex component 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936472:896,513...965,410
Ensembl chrNW_004936472:896,488...965,915 		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 chrNW_004937030:243,104...258,355 JBrowse link
factor XI deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823 		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 chrNW_004936554:160,360...176,442 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 chrNW_004936554:3,227,395...3,256,710
Ensembl chrNW_004936554:3,228,735...3,256,710 		JBrowse link
G LOC101967202 coagulation factor XI ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency OMIM
ClinVar		 PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 More... NCBI chrNW_004936554:3,205,539...3,223,228
Ensembl chrNW_004936554:3,205,539...3,219,311 		JBrowse link
G LOC101967774 cytochrome P450 4V2 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:32581362 PMID:34355501 NCBI chrNW_004936554:3,272,139...3,293,288
Ensembl chrNW_004936554:3,272,073...3,293,564 		JBrowse link
G Mtnr1a melatonin receptor 1A ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936554:3,013,106...3,047,171
Ensembl chrNW_004936554:3,013,050...3,047,179 		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 chrNW_004936554:1,627,624...1,633,479
Ensembl chrNW_004936554:1,627,624...1,633,479 		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 chrNW_004936554:1,676,443...1,687,779
Ensembl chrNW_004936554:1,676,443...1,687,758 		JBrowse link
G Zfp42 ZFP42 zinc finger protein ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936554:1,786,355...1,787,125 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 ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease OMIM
ClinVar		 PMID:8528215 PMID:9354665 PMID:9490684 PMID:9536098 PMID:10361128 More... NCBI chrNW_004936597:1,687,511...1,694,782 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:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More... NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539 		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 A chain ISO ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease ClinVar PMID:31136071 NCBI chrNW_004936534:6,199,066...6,360,374
Ensembl chrNW_004936534:6,199,066...6,361,476 		JBrowse link
G F13b coagulation factor XIII B chain ISO ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease ClinVar PMID:22353194 PMID:25044882 PMID:25741868 PMID:28399723 PMID:28748566 NCBI chrNW_004936567:6,712,666...6,735,539 JBrowse link
G Lman1 lectin, mannose binding 1 ISO F5F8D, OMIM:227300 RGD PMID:9546392 RGD:1600100 NCBI chrNW_004936497:5,383,636...5,409,347
Ensembl chrNW_004936497:5,383,524...5,408,452 		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 A chain ISO ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of OMIM
ClinVar		 PMID:1353995 PMID:7236530 PMID:7727776 PMID:7918041 PMID:8025280 More... NCBI chrNW_004936534:6,199,066...6,360,374
Ensembl chrNW_004936534:6,199,066...6,361,476 		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 OMIM
ClinVar		 PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 More... NCBI chrNW_004936567:6,712,666...6,735,539 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 chrNW_004936497:5,383,636...5,409,347
Ensembl chrNW_004936497:5,383,524...5,408,452 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chrNW_004936508:5,392,275...5,419,267
Ensembl chrNW_004936508:5,410,674...5,420,012 		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: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936500:6,569,708...6,591,266
Ensembl chrNW_004936500:6,458,721...6,591,928 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:18723428 PMID:24100448 PMID:28492532 PMID:32581362 NCBI chrNW_004936500:7,774,962...7,816,658
Ensembl chrNW_004936500:7,774,597...7,816,702 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chrNW_004936500:7,998,464...8,007,848
Ensembl chrNW_004936500:8,007,291...8,007,680 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:18478040 PMID:18487507 PMID:19357396 PMID:19679353 PMID:21626672 More... NCBI chrNW_004936500:8,067,009...8,072,383
Ensembl chrNW_004936500:8,068,188...8,068,553 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chrNW_004936500:8,250,254...8,266,725
Ensembl chrNW_004936500:8,250,248...8,267,241 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chrNW_004936500:7,942,099...7,950,256
Ensembl chrNW_004936500:7,942,133...7,950,271 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936500:7,621,328...7,710,909
Ensembl chrNW_004936500:7,486,954...7,709,504 		JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004936500:6,601,811...6,624,991
Ensembl chrNW_004936500:6,610,597...6,625,009 		JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chrNW_004936500:8,284,631...8,296,387 JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar PMID:32581362 NCBI chrNW_004936500:8,055,609...8,065,351
Ensembl chrNW_004936500:8,055,588...8,066,060 		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:1926040 PMID:2014236 PMID:7508443 PMID:7620188 More... NCBI chrNW_004936541:813,815...828,826
Ensembl chrNW_004936541:814,171...828,291 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 ClinVar PMID:1371279 PMID:1602006 PMID:9050889 PMID:9215749 PMID:9351872 More... NCBI chrNW_004936541:2,822,789...2,871,069
Ensembl chrNW_004936541:2,815,738...2,871,035 		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 ClinVar
OMIM		 PMID:1371279 PMID:1438206 PMID:1602006 PMID:2014236 PMID:2392682 More... NCBI chrNW_004936541:2,822,789...2,871,069
Ensembl chrNW_004936541:2,815,738...2,871,035 		JBrowse link
Glanzmann's thrombasthenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 severity ISO RGD PMID:14687991 RGD:1582297 NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786 		JBrowse link
G Itga2b integrin subunit alpha 2b 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 | ClinVar Annotator: match by term: Thrombasthenia ClinVar PMID:1317725 PMID:1638023 PMID:1926040 PMID:2014236 PMID:7508443 More... NCBI chrNW_004936541:813,815...828,826
Ensembl chrNW_004936541:814,171...828,291 		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 | ClinVar Annotator: match by term: Thrombasthenia ClinVar PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 More... NCBI chrNW_004936541:2,822,789...2,871,069
Ensembl chrNW_004936541:2,815,738...2,871,035 		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 chrNW_004936596:707,841...756,285
Ensembl chrNW_004936596:703,943...756,362 		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 chrNW_004936487:19,414,135...19,417,465
Ensembl chrNW_004936487:19,414,135...19,417,465 		JBrowse link
G Nbeal2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Gray platelet syndrome | ClinVar Annotator: match by term: NBEAL2-related condition OMIM
ClinVar		 PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936596:758,495...789,252
Ensembl chrNW_004936596:758,495...789,168 		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 chrNW_004936513:7,701,733...7,889,753
Ensembl chrNW_004936513:7,701,725...7,889,750 		JBrowse link
G CXHXorf66 chromosome X CXorf66 homolog ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chrNW_004936513:7,664,110...7,668,227 JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		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 chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		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 OMIM
ClinVar
RGD		 PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 More... RGD:10450761 RGD:10450764 NCBI chrNW_004936513:8,052,998...8,090,245
Ensembl chrNW_004936513:8,053,615...8,090,234 		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 chrNW_004936513:7,950,082...8,035,421
Ensembl chrNW_004936513:7,922,700...8,034,793 		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 chrNW_004936513:7,218,583...7,221,085 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 ClinVar PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936549:5,964,240...6,205,245
Ensembl chrNW_004936549:5,965,143...6,204,379 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar NCBI chrNW_004936588:1,223,646...1,262,577
Ensembl chrNW_004936588:1,222,466...1,262,676 		JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004936706:1,702,154...1,704,366
Ensembl chrNW_004936706:1,684,824...1,706,544 		JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISO MouseDO NCBI chrNW_004936477:18,618,330...18,619,512
Ensembl chrNW_004936477:18,618,499...18,619,140 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:32565547 NCBI chrNW_004936534:4,550,592...4,584,482
Ensembl chrNW_004936534:4,550,592...4,584,482 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More... NCBI chrNW_004936471:8,209,091...8,226,249
Ensembl chrNW_004936471:8,209,057...8,226,353 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965 		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 chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004936552:1,787,687...1,926,516 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:9536098 More... NCBI chrNW_004936636:1,407,666...1,430,683
Ensembl chrNW_004936636:1,410,589...1,430,124 		JBrowse link
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More... NCBI chrNW_004936519:6,470,077...6,530,897
Ensembl chrNW_004936519:6,466,212...6,499,101 		JBrowse link
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 More... NCBI chrNW_004936657:1,075,300...1,104,328
Ensembl chrNW_004936657:1,075,261...1,103,055 		JBrowse link
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 More... NCBI chrNW_004936528:940,372...980,867
Ensembl chrNW_004936528:939,793...981,042 		JBrowse link
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936600:3,754,324...3,757,048
Ensembl chrNW_004936600:3,754,460...3,756,880 		JBrowse link
G Kxd1 KxDL motif containing 1 ISO MouseDO NCBI chrNW_004936596:2,711,326...2,719,839
Ensembl chrNW_004936596:2,706,994...2,719,846 		JBrowse link
G Rab38 RAB38, member RAS oncogene family ISO RGD PMID:19897744 RGD:2324690 NCBI chrNW_004936736:1,304,290...1,360,412
Ensembl chrNW_004936736:1,304,185...1,361,221 		JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO MouseDO NCBI chrNW_004936722:283,682...289,548
Ensembl chrNW_004936722:283,544...290,429 		JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISO MouseDO NCBI chrNW_004936535:9,177,305...9,242,743
Ensembl chrNW_004936535:9,177,143...9,242,566 		JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISO MouseDO NCBI chrNW_004936558:2,227,305...2,257,725
Ensembl chrNW_004936558:2,227,253...2,257,722 		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:25741868 PMID:28492532 NCBI chrNW_004936549:5,964,240...6,205,245
Ensembl chrNW_004936549:5,965,143...6,204,379 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO OMIM:203300 MouseDO NCBI chrNW_004936588:1,223,646...1,262,577
Ensembl chrNW_004936588:1,222,466...1,262,676 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 PMID:33543539 NCBI chrNW_004936471:8,209,091...8,226,249
Ensembl chrNW_004936471:8,209,057...8,226,353 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858 		JBrowse link
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 OMIM
ClinVar		 PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chrNW_004936636:1,407,666...1,430,683
Ensembl chrNW_004936636:1,410,589...1,430,124 		JBrowse link
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chrNW_004936519:6,470,077...6,530,897
Ensembl chrNW_004936519:6,466,212...6,499,101 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO OMIM:203300 MouseDO NCBI chrNW_004936471:16,738,204...16,815,561
Ensembl chrNW_004936471:16,738,230...16,815,943 		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: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More... NCBI chrNW_004936588:1,223,646...1,262,577
Ensembl chrNW_004936588:1,222,466...1,262,676 		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:25741868 PMID:32565547 NCBI chrNW_004936534:4,550,592...4,584,482
Ensembl chrNW_004936534:4,550,592...4,584,482 		JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aggf1 angiogenic factor with G-patch and FHA domains 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:5,069,164...5,109,299
Ensembl chrNW_004936549:5,068,656...5,111,406 		JBrowse link
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 chrNW_004936549:5,964,240...6,205,245
Ensembl chrNW_004936549:5,965,143...6,204,379 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936588:1,223,646...1,262,577
Ensembl chrNW_004936588:1,222,466...1,262,676 		JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:6,654,259...6,827,647
Ensembl chrNW_004936549:6,653,978...6,826,349 		JBrowse link
G Crhbp corticotropin releasing hormone binding protein ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:64,866...78,272
Ensembl chrNW_004936549:64,866...78,272 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:142,281...153,575
Ensembl chrNW_004936549:141,512...153,602 		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:25741868 PMID:28492532 PMID:31898847 PMID:32581362 NCBI chrNW_004936519:6,470,077...6,530,897
Ensembl chrNW_004936519:6,466,212...6,499,101 		JBrowse link
G Lhfpl2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:6,398,190...6,537,832
Ensembl chrNW_004936549:6,397,810...6,418,937 		JBrowse link
G Otp orthopedia homeobox ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:5,626,799...5,636,556
Ensembl chrNW_004936549:5,626,799...5,636,556 		JBrowse link
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:5,212,693...5,450,195
Ensembl chrNW_004936549:5,212,834...5,448,515 		JBrowse link
G S100z S100 calcium binding protein Z ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:111,395...113,662
Ensembl chrNW_004936549:111,395...113,662 		JBrowse link
G Scamp1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:6,291,063...6,389,000
Ensembl chrNW_004936549:6,291,151...6,391,952 		JBrowse link
G Tbca tubulin folding cofactor A ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:5,682,558...5,746,784
Ensembl chrNW_004936549:5,682,630...5,746,777 		JBrowse link
G Wdr41 WD repeat domain 41 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:5,453,824...5,494,809
Ensembl chrNW_004936549:5,453,913...5,494,533 		JBrowse link
G Zbed3 zinc finger BED-type containing 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chrNW_004936549:5,124,079...5,136,873
Ensembl chrNW_004936549:5,127,358...5,133,984 		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 chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858 		JBrowse link
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936519:6,470,077...6,530,897
Ensembl chrNW_004936519:6,466,212...6,499,101 		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 chrNW_004936636:1,407,666...1,430,683
Ensembl chrNW_004936636:1,410,589...1,430,124 		JBrowse link
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 OMIM
ClinVar		 PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 More... NCBI chrNW_004936657:1,075,300...1,104,328
Ensembl chrNW_004936657:1,075,261...1,103,055 		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: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 OMIM
ClinVar		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 More... NCBI chrNW_004936528:940,372...980,867
Ensembl chrNW_004936528:939,793...981,042 		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: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 OMIM
ClinVar		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chrNW_004936600:3,754,324...3,757,048
Ensembl chrNW_004936600:3,754,460...3,756,880 		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: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 OMIM
ClinVar		 PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 More... NCBI chrNW_004936552:1,787,687...1,926,516 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: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 OMIM
ClinVar		 PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936706:1,702,154...1,704,366
Ensembl chrNW_004936706:1,684,824...1,706,544 		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:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More... NCBI chrNW_004936471:8,209,091...8,226,249
Ensembl chrNW_004936471:8,209,057...8,226,353 		JBrowse link
high molecular weight kininogen deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kng1 kininogen 1 ISO ClinVar Annotator: match by term: High molecular weight kininogen deficiency | ClinVar Annotator: match by term: Kininogen deficiency, total OMIM
ClinVar		 PMID:1202089 PMID:1968772 PMID:7901207 PMID:12576314 PMID:17522339 More... NCBI chrNW_004936578:3,255,335...3,281,296
Ensembl chrNW_004936578:3,253,749...3,281,296 		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 (CD36 blood group) ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 10 ClinVar
OMIM		 PMID:7533783 PMID:7686693 PMID:8696942 PMID:10890433 PMID:10946357 More... NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365 		JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:18820218 RGD:13208509 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		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 platelet 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 chrNW_004936886:295,950...310,614 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 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936592:4,038,163...4,192,772
Ensembl chrNW_004936592:4,038,074...4,192,808 		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: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 More... NCBI chrNW_004936495:12,124,489...12,217,223
Ensembl chrNW_004936495:12,124,443...12,217,242 		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 chrNW_004936572:3,448,870...3,576,406
Ensembl chrNW_004936572:3,448,862...3,577,836 		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 OMIM
ClinVar		 PMID:1638023 PMID:9215749 PMID:9834222 PMID:10607701 PMID:14687991 More... NCBI chrNW_004936541:813,815...828,826
Ensembl chrNW_004936541:814,171...828,291 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 ClinVar PMID:1371279 PMID:9351872 PMID:19570064 PMID:19821948 PMID:20106508 More... NCBI chrNW_004936541:2,822,789...2,871,069
Ensembl chrNW_004936541:2,815,738...2,871,035 		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:20861919 PMID:23927492 PMID:24325358 More... NCBI chrNW_004936487:19,414,135...19,417,465
Ensembl chrNW_004936487:19,414,135...19,417,465 		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 | ClinVar Annotator: match by term: RASGRP2-related condition OMIM
ClinVar		 PMID:24958846 PMID:25741868 PMID:27235135 PMID:27663674 PMID:28492532 More... NCBI chrNW_004936599:4,567,385...4,579,607 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: BLEEDING DISORDER, PLATELET-TYPE, 3 | ClinVar Annotator: match by term: Platelet-type von Willebrand disease | ClinVar Annotator: match by term: Pseudo von Willebrand disease OMIM
ClinVar		 PMID:2052556 PMID:8384898 PMID:8486780 PMID:12038791 PMID:18492106 More... NCBI chrNW_004936677:2,774,076...2,779,660 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:12578987 PMID:20966167 PMID:25741868 More... NCBI chrNW_004936758:1,384,616...1,656,621
Ensembl chrNW_004936758:1,385,854...1,656,608 		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:12578987 PMID:20966167 PMID:25741868 More... NCBI chrNW_004936758:1,581,828...1,624,332
Ensembl chrNW_004936758:1,581,897...1,592,222 		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 ClinVar PMID:19500323 PMID:22862885 PMID:23368983 PMID:25741868 PMID:28492532 NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786 		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 chrNW_004936480:14,302,824...14,313,265 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 mutation:exon:p.R87H (3203G>A) (human)
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutation:exon:p.A259T (8490G>A) (human)
DNA:missense mutations:cds:p.L223F, p.I403M (human)		 RGD
CTD		 PMID:8128429 PMID:8845458 PMID:11434940 PMID:14707701 PMID:18376272 More... RGD:11099984 RGD:11099985 RGD:1578392 NCBI chrNW_004936469:43,841,989...43,850,322
Ensembl chrNW_004936469:43,841,989...43,850,304 		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, thrombin ISO ClinVar Annotator: match by term: Congenital factor II deficiency | ClinVar Annotator: match by term: Factor II deficiency ClinVar PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:6405779 More... NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G F7 coagulation factor VII ISO protein:decreased expression:plasma (rat) RGD PMID:2810399 RGD:2312318 NCBI chrNW_004936472:505,751...515,375
Ensembl chrNW_004936472:505,751...514,339 		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:12689937 PMID:18988861 PMID:20007542 PMID:22102275 PMID:25741868 More... NCBI chrNW_004936521:5,238,128...5,243,829
Ensembl chrNW_004936521:5,238,093...5,243,877 		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:16199547 PMID:21107324 PMID:21511967 PMID:25741868 More... NCBI chrNW_004936512:3,649,103...3,736,274
Ensembl chrNW_004936512:3,540,129...3,732,776 		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 susceptibility ISO ClinVar Annotator: match by term: Activated protein C resistance | ClinVar Annotator: match by term: Hereditary Resistance to Activated Protein C | ClinVar Annotator: match by term: Thrombophilia due to activated protein C resistance ClinVar
OMIM		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chrNW_004936469:43,841,989...43,850,322
Ensembl chrNW_004936469:43,841,989...43,850,304 		JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chrNW_004936666:18,303...110,357
Ensembl chrNW_004936666:19,387...110,014 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chrNW_004936506:10,103,120...10,172,800
Ensembl chrNW_004936506:10,103,139...10,171,863 		JBrowse link
Von Willebrand Factor, Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:32581362 NCBI chrNW_004936508:5,392,275...5,419,267
Ensembl chrNW_004936508:5,410,674...5,420,012 		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 chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		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 chrNW_004936537:4,637,028...4,647,915
Ensembl chrNW_004936537:4,636,667...4,647,916 		JBrowse link
G Vwf von Willebrand factor treatment ISO ClinVar Annotator: match by term: Hereditary von Willebrand disease | ClinVar Annotator: match by term: Von Willebrand disease, recessive form | ClinVar Annotator: match by term: von Willebrand disorder RGD
ClinVar		 PMID:1301136 PMID:1302613 PMID:1324533 PMID:1380739 PMID:1415226 More... RGD:11079196 NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		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 no_association
severity		 ISO DNA:SNP: :807C>T (human) RGD PMID:14652648 PMID:15226188 RGD:10766468 RGD:11530070 NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786 		JBrowse link
G Itga2b integrin subunit alpha 2b severity ISO DNA:haplotype:cds: RGD PMID:15226188 RGD:10766468 NCBI chrNW_004936541:813,815...828,826
Ensembl chrNW_004936541:814,171...828,291 		JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chrNW_004936785:476,200...503,371
Ensembl chrNW_004936785:476,078...503,321 		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 OMIM
ClinVar		 PMID:1301136 PMID:1302613 PMID:1373334 PMID:1415226 PMID:1581215 More... NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		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 chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		JBrowse link
G Itga2 integrin subunit alpha 2 severity ISO DNA:haplotype:promoter: RGD PMID:16409463 RGD:10766469 NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786 		JBrowse link
G Itga2b integrin subunit alpha 2b no_association ISO DNA:haplotype:: RGD PMID:16409463 RGD:10766469 NCBI chrNW_004936541:813,815...828,826
Ensembl chrNW_004936541:814,171...828,291 		JBrowse link
G Vwf von Willebrand factor treatment ISO ClinVar Annotator: match by term: VWD, TYPE 2 | 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 OMIM
ClinVar
RGD		 PMID:1324533 PMID:1373334 PMID:1380739 PMID:1409710 PMID:1415226 More... RGD:11079203 NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		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 III | ClinVar Annotator: match by term: von Willebrand disease type 3 OMIM
ClinVar		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754 		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 ISO OMIM:301000 | OMIM:614493 MouseDO NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated OMIM
ClinVar		 PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 More... NCBI chrNW_004936721:634,685...641,248
Ensembl chrNW_004936721:634,706...641,082 		JBrowse link
G Washc4 WASH complex subunit 4 ISO OMIM:301000 MouseDO NCBI chrNW_004936492:9,527,889...9,585,345
Ensembl chrNW_004936492:9,530,674...9,585,462 		JBrowse link
G Wipf1 WAS/WASL interacting protein family member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936509:4,314,376...4,427,960 JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome ClinVar PMID:10069711 PMID:10220139 PMID:16786514 PMID:18414213 PMID:19824023 More... NCBI chrNW_004936792:862,659...1,005,065
Ensembl chrNW_004936792:862,383...1,005,755 		JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936509:4,452,382...4,470,658
Ensembl chrNW_004936509:4,452,616...4,470,658 		JBrowse link
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 chrNW_004936509:4,314,376...4,427,960 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      hematopoietic system disease 2990
        blood coagulation disease 861
          Inherited Blood Coagulation Disease 194
            Bernard-Soulier syndrome + 5
            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 10
            Glanzmann's thrombasthenia + 4
            Hermansky-Pudlak syndrome + 33
            Passovoy Factor 0
            Pechet Factor Deficiency 0
            Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 0
            Scott syndrome 1
            Wiskott-Aldrich syndrome + 6
            antithrombin III deficiency 20
            congenital afibrinogenemia + 5
            factor V deficiency + 5
            factor VII deficiency 2
            factor VIII deficiency + 25
            factor X deficiency 35
            factor XI deficiency 9
            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 0
            platelet-type bleeding disorder 3 1
            platelet-type bleeding disorder 8 2
            platelet-type bleeding disorder 9 2
            protein C deficiency + 17
            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 16465
    disease of anatomical entity 14117
      Hemic and Lymphatic Diseases 3445
        hematopoietic system disease 2990
          blood coagulation disease 861
            Inherited Blood Coagulation Disease 194
              Bernard-Soulier syndrome + 5
              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 10
              Glanzmann's thrombasthenia + 4
              Hermansky-Pudlak syndrome + 33
              Passovoy Factor 0
              Pechet Factor Deficiency 0
              Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 0
              Scott syndrome 1
              Wiskott-Aldrich syndrome + 6
              antithrombin III deficiency 20
              congenital afibrinogenemia + 5
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 25
              factor X deficiency 35
              factor XI deficiency 9
              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 0
              platelet-type bleeding disorder 3 1
              platelet-type bleeding disorder 8 2
              platelet-type bleeding disorder 9 2
              protein C deficiency + 17
              prothrombin deficiency + 2
              thrombophilia due to activated protein C resistance 4
              von Willebrand's disease + 8
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