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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Coagulation Protein Disorders
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Accession:DOID:9004931 term browser browse the term
Definition:Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins.
Synonyms:exact_synonym: Coagulation Protein Disorder;   Coagulation Protein Disorders;   blood coagulation factor deficiencies;   coagulation protein disease;   coagulation proteins disorder
 primary_id: MESH:D020147
 alt_id: DOID:2212


show annotations for term's descendants           Sort by:
Coagulation Protein Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggcx gamma-glutamyl carboxylase ISO RGD PMID:9845520 RGD:1598791 NCBI chr 6:72,391,262...72,407,696
Ensembl chr 6:72,391,291...72,407,695 		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 chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
combined deficiency of vitamin K-dependent clotting factors 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, type 2
DNA:missense mutation: :p.R98W (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:11154138 PMID:14765194 PMID:15358623 PMID:15883587 PMID:16270629 More... RGD:1303972 NCBI chr 7:127,492,235...127,494,833
Ensembl chr 7:127,485,399...127,494,626
Ensembl chr 7:127,485,399...127,494,626 		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, sub-family B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120137 NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		JBrowse link
G Cfi complement component 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 chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		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
DNA:deletion:cds: (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:237956 PMID:1391954 PMID:2738154 PMID:3345340 PMID:3590111 More... RGD:5688762, RGD:11040559 NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1565641 PMID:3194892 PMID:10666208 PMID:10688828 PMID:11468164 More... RGD:737709 NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170 		JBrowse link
G Fgg fibrinogen gamma chain ISO
IAGP		 DNA:snp:intron:IVS3+5G>A (human)
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FIBRINOGEN PARIS 1 | ClinVar Annotator: match by term: Hypofibrinogenemia
CTD Direct Evidence: marker/mechanism
OMIM:202400
DNA:nonsense mutation:exon:p.R134X (human)		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1249208 PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 More... RGD:737710, RGD:11352676 NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1675636 PMID:1912564 PMID:2738154 PMID:3345340 PMID:3590111 More... NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fgb fibrinogen beta chain ISO DNA:mutation:missense mutation:g.g.9692A>G(human)
ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:p.w467X(human)		 ClinVar
CTD
OMIM
RGD		 PMID:10688828 PMID:19229055 PMID:19420351 PMID:20978265 PMID:21959590 More... RGD:10450765, RGD:10450766 NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170 		JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:deletion:intron:IVS9+1delG (human)
ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.N308T (c.1001A>C) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:1733971 PMID:2328317 PMID:2496144 PMID:2512677 PMID:2617471 More... RGD:11352672, RGD:11352691 NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		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 chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT ClinVar PMID:1565641 PMID:3194892 PMID:11468164 PMID:23061815 PMID:24679643 More... NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170 		JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:missense mutation:exon:p.R375W (human)
DNA:missense mutation:exon:p.A341D (human
DNA:missense mutation:exon:p.T277R (7482G>C) (human)
DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human)
DNA:missense mutation: :p.S313N (7590G>A) (human)
DNA:missense mutations: :p.D316N, p.G366S (human)
DNA:frameshift mutation: :c.554delA (human)
ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia		 ClinVar
RGD		 PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 More... RGD:11352674, RGD:11352675, RGD:11352678, RGD:11352680, RGD:11352681, RGD:11352682, RGD:11352694 NCBI chr 3:82,915,031...82,922,363
Ensembl chr 3:82,915,031...82,922,356 		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 susceptibility ISO DNA:deletion, missense mutations:cds:
CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar
OMIM
RGD		 PMID:444582 PMID:625142 PMID:1349838 PMID:1421398 PMID:1557383 More... RGD:11565075 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2 ISO DNA:missense mutation: :p.D122V (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2		 OMIM
CTD
ClinVar
RGD		 PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:25741909 More... RGD:11062141 NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		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 DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human)
ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: LABILE FACTOR DEFICIENCY | ClinVar Annotator: match by term: PARAHEMOPHILIA
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... RGD:11564334 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300
ClinVar Annotator: match by term: Factor V deficiency		 ClinVar
RGD		 PMID:25741868 PMID:9546392 RGD:1600100 NCBI chr18:66,113,810...66,135,706
Ensembl chr18:66,113,809...66,155,651 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119 		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 chr 8:13,087,308...13,106,676
Ensembl chr 8:13,087,308...13,106,676 		JBrowse link
G F7 coagulation factor VII susceptibility ISO DNA:missense:R304Q, C310F
ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, insertion:exon:p.R277C, g.11520-11521insT (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7974346 More... RGD:1601133, RGD:11049524 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:11776297 RGD:11352263 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794 		JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Hemophilia ClinVar PMID:25741868 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
G F8 coagulation factor VIII treatment ISO
IAGP		 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:134500
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... RGD:1582357, RGD:150520060, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital		 CTD
ClinVar		 PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:59,044,675...59,076,120
Ensembl chr  X:59,044,824...59,076,119 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		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 chr  X:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO RGD PMID:9157572 RGD:11041784 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2ab2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 PMID:22759210 NCBI chr  X:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222 		JBrowse link
G Hc hemolytic complement ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		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 chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chr  X:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22411997 PMID:22411997 RGD:10449409, RGD:10449409 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Plat plasminogen activator, tissue treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chr  X:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO
IMP		 RGD PMID:24263002 PMID:24687919 PMID:22355108 RGD:11060141, RGD:11060256, RGD:11060147 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Vwf Von Willebrand factor treatment IMP
ISO		 ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar
RGD		 PMID:25741868 PMID:25955153 RGD:11073776 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		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 chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
factor X deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700029H14Rik RIKEN cDNA 1700029H14 gene ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,600,722...13,612,555
Ensembl chr 8:13,600,733...13,612,461 		JBrowse link
G Adprhl1 ADP-ribosylhydrolase like 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,268,449...13,304,079
Ensembl chr 8:13,271,663...13,304,162 		JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,661,581...11,694,617
Ensembl chr 8:11,661,583...11,685,757 		JBrowse link
G Arhgef7 Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,778,053...11,885,219
Ensembl chr 8:11,777,721...11,885,219 		JBrowse link
G Atp11a ATPase, class VI, type 11A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728 		JBrowse link
G Atp4b ATPase, H+/K+ exchanging, beta polypeptide ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,436,209...13,446,778
Ensembl chr 8:13,436,205...13,446,825 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,564,017...11,600,781
Ensembl chr 8:11,563,977...11,600,783 		JBrowse link
G Cdc16 CDC16 cell division cycle 16 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,807,650...13,831,951
Ensembl chr 8:13,807,676...13,831,938 		JBrowse link
G Cfap97d2 CFAP97 domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,755,508...13,794,611
Ensembl chr 8:13,755,889...13,793,414 		JBrowse link
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,919,699...13,931,637
Ensembl chr 8:13,919,641...13,931,639 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Cul4a cullin 4A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,155,623...13,197,940
Ensembl chr 8:13,155,621...13,197,940 		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 chr 8:13,305,963...13,337,833
Ensembl chr 8:13,305,963...13,338,131 		JBrowse link
G F10 coagulation factor X ISO DNA:point mutations:R366C;DNA:frameshift
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10 DEFICIENCY | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY
DNA:deletion:cds:c.302delG(human)		 CTD
ClinVar
OMIM
RGD		 PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:3408671 More... RGD:1601104, RGD:11041731 NCBI chr 8:13,087,308...13,106,676
Ensembl chr 8:13,087,308...13,106,676 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Congenital factor X deficiency ClinVar PMID:25741868 PMID:31064749 NCBI chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068 		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 chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
G Gas6 growth arrest specific 6 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490 		JBrowse link
G Gm32234 predicted gene, 32234 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr10:40,330,078...40,342,623 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 chr 8:13,455,081...13,471,951
Ensembl chr 8:13,455,081...13,471,951 		JBrowse link
G Grtp1 GH regulated TBC protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,226,869...13,250,695
Ensembl chr 8:13,222,022...13,250,620 		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 chr 8:11,605,762...11,613,251
Ensembl chr 8:11,605,571...11,613,251 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458 		JBrowse link
G Lamp1 lysosomal-associated membrane protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,209,161...13,225,338
Ensembl chr 8:13,209,161...13,225,338 		JBrowse link
G Mcf2l mcf.2 transforming sequence-like ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,923,806...13,070,502
Ensembl chr 8:12,923,806...13,070,905 		JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:10,203,911...10,684,742
Ensembl chr 8:10,203,911...10,684,742 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,547,506...11,563,287
Ensembl chr 8:11,547,506...11,564,960 		JBrowse link
G Pcid2 PCI domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,125,476...13,155,343
Ensembl chr 8:13,127,189...13,155,459 		JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,110,583...13,126,026
Ensembl chr 8:13,110,914...13,126,026 		JBrowse link
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,503,390...11,528,640
Ensembl chr 8:11,503,518...11,528,710 		JBrowse link
G Rasa3 RAS p21 protein activator 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,617,218...13,727,590
Ensembl chr 8:13,616,948...13,727,603 		JBrowse link
G Sox1 SRY (sex determining region Y)-box 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,445,519...12,449,555
Ensembl chr 8:12,445,295...12,450,126 		JBrowse link
G Sox1ot Sox1 overlapping transcript ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,435,771...12,486,732
Ensembl chr 8:12,435,771...12,486,768 		JBrowse link
G Spaca7 sperm acrosome associated 7 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,623,038...12,650,744
Ensembl chr 8:12,623,029...12,650,744 		JBrowse link
G Tex29 testis expressed 29 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:11,890,488...11,905,761
Ensembl chr 8:11,890,474...11,905,761 		JBrowse link
G Tfdp1 transcription factor Dp 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,388,273...13,428,448
Ensembl chr 8:13,388,751...13,428,448 		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 chr 8:13,333,214...13,372,924
Ensembl chr 8:13,338,190...13,372,924 		JBrowse link
G Tmem255b transmembrane protein 255B ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,485,118...13,543,434
Ensembl chr 8:13,485,189...13,518,473 		JBrowse link
G Tubgcp3 tubulin, gamma complex component 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:12,664,277...12,722,141
Ensembl chr 8:12,664,277...12,722,248 		JBrowse link
G Upf3a UPF3 regulator of nonsense transcripts homolog A (yeast) ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:13,834,636...13,848,723
Ensembl chr 8:13,835,615...13,849,193 		JBrowse link
factor XI deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:32581362 PMID:34355501 NCBI chr 8:45,758,838...45,786,200
Ensembl chr 8:45,757,981...45,786,253 		JBrowse link
G Duxbl1 double homeobox B-like 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr14:25,979,011...25,990,590
Ensembl chr14:25,979,001...25,990,512 		JBrowse link
G F11 coagulation factor XI ISO
IAGP		 ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency
CTD Direct Evidence: marker/mechanism
OMIM:612416
DNA:nonsense mutation:exon:G263X(human)
DNA:missense, nonsense, duplication, deletion:cds:		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 More... RGD:1598923, RGD:11041742, RGD:11041741 NCBI chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		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 chr 8:41,842,218...41,870,179
Ensembl chr 8:41,850,496...41,870,111 		JBrowse link
G Klkb1 kallikrein B, plasma 1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:32581362 PMID:34355501 NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896 		JBrowse link
G Mtnr1a melatonin receptor 1A ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:45,522,144...45,542,270
Ensembl chr 8:45,522,174...45,541,543 		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 chr 8:43,582,843...43,633,531
Ensembl chr 8:43,582,844...43,594,523 		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 chr 8:43,633,500...43,646,921
Ensembl chr 8:43,633,578...43,646,918 		JBrowse link
G Zfp42 zinc finger protein 42 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:25741868 PMID:34355501 NCBI chr 8:43,748,100...43,760,041
Ensembl chr 8:43,748,100...43,760,017 		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 (Hageman factor) ISO
IAGP		 DNA:missense:exon:C571S
ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease
CTD Direct Evidence: marker/mechanism
OMIM:234000
DNA:deletion mutations, transversion mutation:introns, exon:
DNA:missense, nonsense, deletion mutations:cds:
DNA:polymorphism:promoter:-46C>T(human)		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:8528215 PMID:9354665 PMID:9490684 PMID:9536098 PMID:10361128 More... RGD:1601107, RGD:11041805, RGD:11041772, RGD:11041769 NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606 		JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), 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 chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405 		JBrowse link
factor XIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII, A1 subunit ISO
IAGP		 DNA:nonsense mutation:intron:
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease
OMIM:613225 | OMIM:613235
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:IVS1+12C>A(human)
DNA:insertion, missense mutation:cds:
DNA:nonsense mutations, missense mutations:cds:
DNA:mutation:cds:p.R703W(human)		 ClinVar
MouseDO
CTD
RGD		 PMID:1644910 PMID:31136071 PMID:21512576 PMID:23508224 PMID:19937244 More... RGD:10450726, RGD:11041869, RGD:10450730, RGD:10450729, RGD:10450727 NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220 		JBrowse link
G F13b coagulation factor XIII, beta subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease		 CTD
ClinVar		 PMID:2334637 PMID:22353194 PMID:25044882 PMID:25741868 PMID:28399723 More... NCBI chr 1:139,429,285...139,451,496
Ensembl chr 1:139,429,440...139,451,490 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300 RGD PMID:9546392 RGD:1600100 NCBI chr18:66,113,810...66,135,706
Ensembl chr18:66,113,809...66,155,651 		JBrowse link
Factor XIII, A Subunit, Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII, A1 subunit ISO ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of
CTD Direct Evidence: marker/mechanism
DNA:deletions, mutation: exons, splice site:c.980G>A (R326Q),c.1112+2T>C,c.215 delA)
DNA:nonsense, missense mutations:exons:p.R661X,p.T242M(human)		 OMIM
ClinVar
CTD
RGD		 PMID:1353995 PMID:7236530 PMID:7727776 PMID:7918041 PMID:8025280 More... RGD:11041856, RGD:11041811 NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220 		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, beta subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of
DNA:mutations:multiple:		 OMIM
CTD
ClinVar
RGD		 PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 More... RGD:10450738 NCBI chr 1:139,429,285...139,451,496
Ensembl chr 1:139,429,440...139,451,490 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FMFD I		 OMIM
CTD
ClinVar		 PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr18:66,113,810...66,135,706
Ensembl chr18:66,113,809...66,155,651 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
hemophilia B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11c ATPase, class VI, type 11C ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:59,268,643...59,450,041
Ensembl chr  X:59,268,650...59,636,304 		JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		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 chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G F9 coagulation factor IX treatment ISO
IAGP
IMP		 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:306900
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:P.G396R,K411X,I397T(human)
DNA:nonsense mutation:cds:p.R338X (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 More... RGD:10450764, RGD:10450762, RGD:10450761, RGD:10450760, RGD:10450759, RGD:9685705 NCBI chr  X:59,044,675...59,076,120
Ensembl chr  X:59,044,824...59,076,119 		JBrowse link
G Gm7073 predicted gene 7073 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:59,481,236...59,502,437
Ensembl chr  X:59,481,241...59,502,437 		JBrowse link
G Mcf2 mcf.2 transforming sequence ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:59,101,316...59,224,546
Ensembl chr  X:59,101,316...59,224,449 		JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:59,934,972...59,937,045
Ensembl chr  X:59,934,972...59,937,036 		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 1b, alpha polypeptide ISO DNA:deletion
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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.G233V (human)
DNA:missense mutation: :p.V239M (human)		 ClinVar
OMIM
CTD
RGD		 PMID:2052556 PMID:8384898 PMID:8486780 PMID:12038791 PMID:18492106 More... RGD:10450803, RGD:10450823, RGD:10450814 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		JBrowse link
prothrombin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO DNA:missense mutation: :p.R418W (human)
ClinVar Annotator: match by term: Congenital factor II deficiency | ClinVar Annotator: match by term: Factor II deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation: :p.R271H, p.R382C, p.Q541X (human)
DNA:missense mutations, deletion, splice-site mutation: :multiple		 ClinVar
CTD
RGD		 PMID:2222810 PMID:2429850 PMID:2825773 PMID:3567158 PMID:6305407 More... RGD:1601108, RGD:10449425, RGD:10449424 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F7 coagulation factor VII ISO protein:decreased expression:plasma (rat) RGD PMID:2810399 RGD:2312318 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggcx gamma-glutamyl carboxylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
DNA:mutations: :		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:9615107 PMID:17110937 PMID:17576681 PMID:18800149 More... RGD:11040509 NCBI chr 6:72,391,262...72,407,696
Ensembl chr 6:72,391,291...72,407,695 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Quebec platelet disorder		 CTD
ClinVar
OMIM		 PMID:12689937 PMID:18988861 PMID:20007542 PMID:22102275 PMID:25741868 More... NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G Proc protein C ISO RGD PMID:25196808 RGD:11099994 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623 		JBrowse link
G Pros1 protein S (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119 		JBrowse link
Von Willebrand Factor, Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:32581362 NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
G Vwf Von Willebrand factor ISO ClinVar Annotator: match by term: Reduced von Willebrand factor activity ClinVar PMID:3257148 PMID:8456430 PMID:9253800 PMID:10669167 PMID:11756169 More... NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		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 ISO RGD PMID:4546024 RGD:11341671 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697 		JBrowse link
G Vwf Von Willebrand factor treatment ISO
IAGP		 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 ClinVar
MouseDO
RGD		 PMID:1301136 PMID:1302613 PMID:1324533 PMID:1380739 PMID:1415226 More... RGD:1331525, RGD:11079196 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		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 alpha 2 severity
no_association		 ISO DNA:SNP: :807C>T (human) RGD PMID:15226188 PMID:14652648 RGD:10766468, RGD:11530070 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Itga2b integrin alpha 2b severity ISO DNA:haplotype:cds: RGD PMID:15226188 RGD:10766468 NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Plat plasminogen activator, tissue treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Silc1 sciatic injury induced lincRNA upregulator of SOX11 ISO ClinVar Annotator: match by term: von Willebrand disease type 1 ClinVar PMID:25741868 PMID:34355501 NCBI chr12:27,190,795...27,210,515
Ensembl chr12:27,100,949...27,210,632 		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
CTD Direct Evidence: marker/mechanism
protein:decreased expression:plasma
DNA:mutation:exon:p.C386R(human)		 OMIM
ClinVar
CTD
RGD		 PMID:1301136 PMID:1302613 PMID:1373334 PMID:1415226 PMID:1581215 More... RGD:10766468, RGD:11079205 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		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 chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G Itga2 integrin alpha 2 severity ISO DNA:haplotype:promoter: RGD PMID:16409463 RGD:10766469 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Itga2b integrin alpha 2b no_association ISO DNA:haplotype:: RGD PMID:16409463 RGD:10766469 NCBI chr11:102,344,134...102,360,570
Ensembl chr11:102,344,123...102,360,948 		JBrowse link
G Vwf Von Willebrand factor treatment ISO
IAGP
IMP		 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
CTD Direct Evidence: marker/mechanism
OMIM:613554
protein:decreased expression:plasma
DNA:deletion:cds:del K 1405-1408(human)
p. R1306Q,V1316M(mouse)
DNA:missense mutation:cds:p.M1304R(human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:1324533 PMID:1373334 PMID:1380739 PMID:1409710 PMID:1415226 More... RGD:10766469, RGD:11079206, RGD:11079203, RGD:11079202, RGD:11079201, RGD:11079200 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		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
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons:		 OMIM
ClinVar
CTD
RGD		 PMID:1301136 PMID:1302613 PMID:1415226 PMID:1581215 PMID:1832934 More... RGD:11079204 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      hematopoietic system disease 3274
        blood coagulation disease 945
          Coagulation Protein Disorders 97
            Chondrodysplasia Punctata with Coagulation Factor Deficiency 0
            Congenital Plasminogen Deficiency 0
            Dysfibrinogenemia Causing Recurrent Thrombosis 0
            Flood Factor Deficiency 0
            Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
            Tatsumi Factor Deficiency 0
            combined deficiency of vitamin K-dependent clotting factors 2 1
            congenital afibrinogenemia + 5
            factor V deficiency + 5
            factor VII deficiency 2
            factor VIII deficiency + 25
            factor X deficiency 40
            factor XI deficiency 10
            factor XII deficiency 2
            factor XIII deficiency + 3
            hemophilia B 7
            prothrombin deficiency + 2
            thrombophilia due to activated protein C resistance 4
            von Willebrand's disease + 9
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Hemic and Lymphatic Diseases 3776
        hematopoietic system disease 3274
          blood coagulation disease 945
            Coagulation Protein Disorders 97
              Chondrodysplasia Punctata with Coagulation Factor Deficiency 0
              Congenital Plasminogen Deficiency 0
              Dysfibrinogenemia Causing Recurrent Thrombosis 0
              Flood Factor Deficiency 0
              Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 1
              Tatsumi Factor Deficiency 0
              combined deficiency of vitamin K-dependent clotting factors 2 1
              congenital afibrinogenemia + 5
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 25
              factor X deficiency 40
              factor XI deficiency 10
              factor XII deficiency 2
              factor XIII deficiency + 3
              hemophilia B 7
              prothrombin deficiency + 2
              thrombophilia due to activated protein C resistance 4
              von Willebrand's disease + 9
paths to the root