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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
For additional species annotation, visit the Alliance of Genome Resources.


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 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
JBrowse link
autosomal hemophilia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:29357978 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
congenital afibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120137 NCBI chr 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Cfi complement factor I ISO ClinVar Annotator: match by term: Afibrinogenemia ClinVar PMID:849647, PMID:8613545, PMID:12562389, PMID:17018561, PMID:25741868, PMID:25988862 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by OMIM:202400
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds: (human)
ClinVar
CTD
OMIM
PMID:1391954, PMID:2738154, PMID:3345340, PMID:3590111, PMID:3618591, PMID:4052020, PMID:6191801, PMID:7298640, PMID:10602365, PMID:10891444, PMID:10910940, PMID:12358944, PMID:12871326, PMID:14615374, PMID:16362348, PMID:19420351, PMID:25741868, PMID:27164460, PMID:28492532, PMID:31064749, PMID:15795544, PMID:10602365 RGD:5688762, RGD:11040559 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia, congenital
ClinVar Annotator: match by OMIM:202400
ClinVar
OMIM
PMID:1565641, PMID:3194892, PMID:10666208, PMID:10688828, PMID:11468164, PMID:12161363, PMID:12393540, PMID:12573244, PMID:15070683, PMID:15795540, PMID:19420351, PMID:21713329, PMID:22273812, PMID:24033266, PMID:25592583, PMID:25741868, PMID:27164460, PMID:28492532, PMID:31064749, PMID:12393540 RGD:737709 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:snp:intron:IVS3+5G>A (human)
ClinVar Annotator: match by term: Afibrinogenemia, congenital
ClinVar Annotator: match by term: Hypofibrinogenemia
ClinVar Annotator: match by OMIM:202400
DNA:nonsense mutation:exon:p.R134X (human)
ClinVar
OMIM
PMID:1471077, PMID:1733971, PMID:2512677, PMID:2617471, PMID:2971042, PMID:2976995, PMID:3337908, PMID:3563970, PMID:4002201, PMID:6654188, PMID:6886002, PMID:7635941, PMID:10688828, PMID:11001902, PMID:11001903, PMID:11019970, PMID:11435303, PMID:16144795, PMID:17854317, PMID:23560673, PMID:24033266, PMID:24556703, PMID:25320241, PMID:25741868, PMID:28492532, PMID:31064749, PMID:11001903, PMID:15284111 RGD:737710, RGD:11352676 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
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: FIBRINOGEN PETOSKEY
ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1
ClinVar Annotator: match by term: Dysfibrinogenemia
OMIM
ClinVar
PMID:1912564, PMID:2738154, PMID:3345340, PMID:3590111, PMID:3618591, PMID:3667568, PMID:4052020, PMID:4082078, PMID:6191801, PMID:6667926, PMID:7298640, PMID:8140431, PMID:11435303, PMID:11460527, PMID:16846481, PMID:25741868, PMID:31064749 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO DNA:mutation:missense mutation:g.g.9692A>G(human)
ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
DNA:nonsense mutation:cds:p.w467X(human)
ClinVar
OMIM
PMID:25741868, PMID:24711018, PMID:12511408 RGD:10450765, RGD:10450766 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:deletion:intron:IVS9+1delG (human)
DNA:missense mutation:exon:p.N308T (c.1001A>C) (human)
OMIM PMID:25551304, PMID:24482809 RGD:11352672, RGD:11352691 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
Congenital Hypodysfibrinogenemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital ClinVar PMID:10891444, PMID:14615374, PMID:25741868, PMID:31064749 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO ClinVar Annotator: match by term: FIBRINOGEN NIJMEGEN
ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2
ClinVar Annotator: match by term: FIBRINOGEN LONGMONT
ClinVar PMID:1565641, PMID:3194892, PMID:11468164, PMID:25741868, PMID:31064749 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgg fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hypodysfibrinogenemia
ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1
ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2
DNA:frameshift mutation: :c.554delA (human)
DNA:missense mutations: :p.D316N, p.G366S (human)
DNA:missense mutation: :p.S313N (7590G>A) (human)
DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human)
DNA:missense mutation:exon:p.T277R (7482G>C) (human)
DNA:missense mutation:exon:p.A341D (human
DNA:missense mutation:exon:p.R375W (human)
ClinVar PMID:1733971, PMID:2512677, PMID:2617471, PMID:2971042, PMID:2976995, PMID:3337908, PMID:3563970, PMID:4002201, PMID:6654188, PMID:6886002, PMID:7635941, PMID:11344575, PMID:15632207, PMID:25741868, PMID:31064749, PMID:23560673, PMID:26039544, PMID:16607083, PMID:24914742, PMID:23492915, PMID:16959688, PMID:12198657 RGD:11352694, RGD:11352682, RGD:11352681, RGD:11352680, RGD:11352678, RGD:11352675, RGD:11352674 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
Congenital Prothrombin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO ClinVar Annotator: match by term: Prothrombin deficiency, congenital
ClinVar Annotator: match by term: Hereditary factor II deficiency disease
DNA:deletion, missense mutations:cds:
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613679
OMIM
ClinVar
PMID:444582, PMID:625142, PMID:1349838, PMID:1421398, PMID:1557383, PMID:2222810, PMID:2429850, PMID:2719946, PMID:3242619, PMID:3567158, PMID:3771562, PMID:3801671, PMID:6085205, PMID:6305407, PMID:6405779, PMID:7740448, PMID:8696333, PMID:8896550, PMID:8916933, PMID:9106528, PMID:9292507, PMID:9462220, PMID:9493607, PMID:9531249, PMID:9569177, PMID:9694698, PMID:9869612, PMID:10027711, PMID:10233438, PMID:10233439, PMID:10336270, PMID:10348710, PMID:10348711, PMID:10348712, PMID:10406905, PMID:10477778, PMID:10544935, PMID:10651742, PMID:11154146, PMID:11358905, PMID:11443298, PMID:11506076, PMID:11796466, PMID:11874997, PMID:11904676, PMID:12149217, PMID:13217497, PMID:13228032, PMID:14489469, PMID:15059842, PMID:15534175, PMID:16487178, PMID:16493002, PMID:19159930, PMID:19289024, PMID:19531787, PMID:19554541, PMID:19560233, PMID:19598065, PMID:19652888, PMID:20301327, PMID:21243428, PMID:21349849, PMID:23429074, PMID:24033266, PMID:25741868, PMID:27031503, PMID:28492532, PMID:30311386, PMID:11154146 RGD:11565075 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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 OMIM:613625
DNA:missense mutation: :p.D122V (human)
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:31064749, PMID:17610559 RGD:11062141 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
factor V deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Factor V deficiency
ClinVar Annotator: match by term: PARAHEMOPHILIA
ClinVar Annotator: match by OMIM:227400
DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7586244, PMID:7803250, PMID:7877648, PMID:7910348, PMID:7911872, PMID:7968118, PMID:8049422, PMID:8164730, PMID:8164741, PMID:8566967, PMID:8616100, PMID:8822583, PMID:9245936, PMID:9339109, PMID:9372726, PMID:9415695, PMID:9454741, PMID:9459326, PMID:9488630, PMID:9518910, PMID:9576178, PMID:9694743, PMID:9734642, PMID:10328130, PMID:10348711, PMID:10477778, PMID:10494770, PMID:10507841, PMID:10666427, PMID:10942390, PMID:11018168, PMID:11110695, PMID:11418372, PMID:11435304, PMID:11564077, PMID:11686338, PMID:11781258, PMID:11950065, PMID:12069454, PMID:12070000, PMID:12393490, PMID:12421138, PMID:12816860, PMID:14996674, PMID:15208046, PMID:15534175, PMID:15638861, PMID:15946211, PMID:16246256, PMID:16476093, PMID:16493002, PMID:16769590, PMID:16931580, PMID:19486170, PMID:19652888, PMID:19900106, PMID:20051284, PMID:20735394, PMID:21116184, PMID:21774968, PMID:22044617, PMID:22992668, PMID:23382263, PMID:23900608, PMID:24033266, PMID:25741868, PMID:26251307, PMID:28492532, PMID:28750087, PMID:31064749, PMID:11564077 RGD:11564334 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300
ClinVar Annotator: match by term: Factor V deficiency
ClinVar PMID:25741868, PMID:9546392 RGD:1600100 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:18695002 RGD:11060145 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
factor VII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Factor VII deficiency ClinVar PMID:10984565, PMID:12181036, PMID:25741868 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F7 coagulation factor VII ISO DNA:missense:R304Q, C310F
ClinVar Annotator: match by term: Factor VII deficiency
ClinVar Annotator: match by term: Factor VII Padua
ClinVar Annotator: match by OMIM:227500
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, insertion:exon:p.R277C, g.11520-11521insT (human)
ClinVar
CTD
OMIM
PMID:1634227, PMID:2070047, PMID:6812354, PMID:7919338, PMID:7974346, PMID:7981691, PMID:8242057, PMID:8244334, PMID:8364544, PMID:8652821, PMID:8883260, PMID:8940045, PMID:8978290, PMID:9414278, PMID:9576180, PMID:9716591, PMID:10862079, PMID:10984565, PMID:11091194, PMID:11110717, PMID:11129332, PMID:11139238, PMID:11529858, PMID:11931672, PMID:12181036, PMID:12472587, PMID:12903033, PMID:12935978, PMID:15142120, PMID:15456489, PMID:15735798, PMID:18282149, PMID:18976247, PMID:19751712, PMID:20040857, PMID:20735728, PMID:20885134, PMID:20958793, PMID:21902896, PMID:22180436, PMID:22873696, PMID:24033266, PMID:25582404, PMID:25741868, PMID:25828579, PMID:25952977, PMID:26105150, PMID:28492532, PMID:30311386, PMID:31064749, PMID:1634227, PMID:26083983 RGD:1601133, RGD:11049524 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5 complement C5 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11776297 RGD:11352263 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:1,311,121...1,316,683
Ensembl chr  X:1,311,121...1,316,682
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII treatment ISO
IAGP
IMP
ClinVar Annotator: match by term: Hemophilia A
ClinVar Annotator: match by term: Hemophilia A, congenital
ClinVar Annotator: match by term: Factor VIII deficiency, congenital
ClinVar Annotator: match by term: Hemophilia A, FVIII Deficiency
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:306700
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple
ClinVar
CTD
OMIM
PMID:1301194, PMID:1301932, PMID:1301960, PMID:1349567, PMID:1357455, PMID:1412186, PMID:1523102, PMID:1559571, PMID:1569180, PMID:1569181, PMID:1639429, PMID:1643024, PMID:1671991, PMID:1840568, PMID:1908096, PMID:1908817, PMID:1923751, PMID:1924291, PMID:1969840, PMID:1979502, PMID:2104741, PMID:2104766, PMID:2105106, PMID:2105906, PMID:2106480, PMID:2107542, PMID:2109644, PMID:2110545, PMID:2121641, PMID:2125022, PMID:2159433, PMID:2473810, PMID:2493803, PMID:2495245, PMID:2498882, PMID:2506948, PMID:2510835, PMID:2567219, PMID:2831458, PMID:2833855, PMID:2835307, PMID:2861360, PMID:2887317, PMID:2901224, PMID:2907841, PMID:2986011, PMID:2987704, PMID:3035554, PMID:3097553, PMID:3122181, PMID:3131627, PMID:6253938, PMID:6438527, PMID:7579394, PMID:7662970, PMID:7728145, PMID:7984443, PMID:8052958, PMID:8054459, PMID:8069313, PMID:8281136, PMID:8307558, PMID:8322269, PMID:8449505, PMID:8485051, PMID:8497853, PMID:8576960, PMID:8639447, PMID:10404764, PMID:10609755, PMID:10910913, PMID:11110718, PMID:11189482, PMID:11442643, PMID:11554935, PMID:11713379, PMID:11857744, PMID:11918545, PMID:12139751, PMID:12351418, PMID:12406074, PMID:12884004, PMID:15471879, PMID:15710596, PMID:15735794, PMID:15810915, PMID:15921397, PMID:16051741, PMID:16786531, PMID:16834740, PMID:17209060, PMID:17445092, PMID:18034822, PMID:18217193, PMID:18371163, PMID:18479430, PMID:18565236, PMID:18691168, PMID:19377476, PMID:19456877, PMID:19473423, PMID:19719548, PMID:20301578, PMID:20331761, PMID:20800587, PMID:21217077, PMID:21645180, PMID:21645226, PMID:21689372, PMID:21751985, PMID:21838755, PMID:22103590, PMID:23534532, PMID:23711237, PMID:23809411, PMID:23812942, PMID:23961341, PMID:23963097, PMID:24033266, PMID:24086941, PMID:24108539, PMID:24118398, PMID:24134483, PMID:24953131, PMID:25326637, PMID:25708597, PMID:25741868, PMID:25948085, PMID:26383047, PMID:26879396, PMID:26897466, PMID:27292088, PMID:28492532, PMID:30311386, PMID:31064749, PMID:32581362, PMID:16786531, PMID:20626616, PMID:24931420, PMID:10612839, PMID:10468616 RGD:1582357, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:24931420 RGD:11530071
G F8m1Ycb coagulation factor VIII, procoagulant component; mutation 1, Ycb IAGP DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) RGD PMID:20626616 RGD:7245964
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Hemophilia A ClinVar NCBI chr 1:147,021,436...147,022,950
Ensembl chr 1:147,021,436...147,022,950
JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemophilia A
CTD
ClinVar
PMID:1346975, PMID:1864609, PMID:2066105, PMID:2087690, PMID:2472424, PMID:2773937, PMID:2929599, PMID:3181127, PMID:5298508, PMID:6603618, PMID:16051741, PMID:19699296, PMID:22544209, PMID:22639855, PMID:25326637, PMID:25741868, PMID:28492532, PMID:29993188, PMID:31064749, PMID:32581362 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 treatment ISO DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) RGD PMID:20082647 RGD:11049183 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association
ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)
RGD PMID:22411997, PMID:22411997 RGD:10449409, RGD:10449409 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO RGD PMID:9157572 RGD:11041784 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:24263002, PMID:24687919, PMID:22355108 RGD:11060141, RGD:11060256, RGD:11060147 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:25955153 RGD:11073776 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Factor VIII Deficiency, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO CTD Direct Evidence: therapeutic CTD PMID:11886462 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
factor X deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X ISO DNA:point mutations:R366C;DNA:frameshift
ClinVar Annotator: match by term: Factor X deficiency
ClinVar Annotator: match by OMIM:227600
DNA:deletion:cds:c.302delG(human)
ClinVar
OMIM
PMID:1939653, PMID:1973167, PMID:1985698, PMID:2790181, PMID:7669671, PMID:7860069, PMID:8449937, PMID:8845463, PMID:8910490, PMID:10468877, PMID:10746568, PMID:10984565, PMID:12181036, PMID:25582404, PMID:25741868, PMID:26879396, PMID:28492532, PMID:29590070, PMID:31064749, PMID:2790181, PMID:22008904 RGD:1601104, RGD:11041731 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868, PMID:31064749 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:10984565, PMID:12181036, PMID:25741868 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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:32581362 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease
ClinVar Annotator: match by OMIM:612416
DNA:nonsense mutation:exon:G263X(human)
DNA:missense, nonsense, duplication, deletion:cds:
ClinVar
OMIM
PMID:1547342, PMID:2052060, PMID:2813350, PMID:7669672, PMID:7888672, PMID:8832909, PMID:9401068, PMID:9787168, PMID:10444286, PMID:10593931, PMID:10606881, PMID:10706758, PMID:11122101, PMID:11127865, PMID:11418471, PMID:11895778, PMID:12586617, PMID:12716376, PMID:12879434, PMID:14508802, PMID:14717969, PMID:15026311, PMID:15090552, PMID:15140127, PMID:15140147, PMID:15180874, PMID:15456490, PMID:15531455, PMID:15634276, PMID:15728123, PMID:15749683, PMID:15842381, PMID:15870541, PMID:15946525, PMID:15953011, PMID:15968392, PMID:16079124, PMID:16086308, PMID:16519703, PMID:16607084, PMID:16787881, PMID:16835901, PMID:17229051, PMID:17549289, PMID:18005151, PMID:18024374, PMID:18327400, PMID:18388506, PMID:18446632, PMID:18515884, PMID:18758779, PMID:18832909, PMID:18839438, PMID:19367158, PMID:19652879, PMID:20015217, PMID:20398070, PMID:20523169, PMID:21192253, PMID:21457405, PMID:21649796, PMID:21668437, PMID:21718436, PMID:21824284, PMID:22016685, PMID:22159456, PMID:22197449, PMID:23305485, PMID:23315997, PMID:23332144, PMID:23929304, PMID:24033266, PMID:24112640, PMID:24982842, PMID:25074526, PMID:25158988, PMID:25681615, PMID:25741868, PMID:25741869, PMID:26558335, PMID:26879396, PMID:27067486, PMID:27710856, PMID:27723456, PMID:28492532, PMID:28960694, PMID:31064749, PMID:32581362, PMID:2813350, PMID:10706758, PMID:11127865 RGD:1598923, RGD:11041742, RGD:11041741 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G Klkb1 kallikrein B1 ISO ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar PMID:32581362 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
factor XII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO DNA:missense:exon:C571S
ClinVar Annotator: match by term: Factor XII deficiency disease
ClinVar Annotator: match by term: Hageman factor deficiency
ClinVar Annotator: match by OMIM:234000
DNA:deletion mutations, transversion mutation:introns, exon:
DNA:missense, nonsense, deletion mutations:cds:
DNA:polymorphism:promoter:-46C>T(human)
ClinVar
OMIM
PMID:8528215, PMID:9354665, PMID:9490684, PMID:10361128, PMID:10984376, PMID:11843842, PMID:16638441, PMID:17186468, PMID:17825897, PMID:18974842, PMID:19178938, PMID:19474702, PMID:19786295, PMID:19933701, PMID:20303064, PMID:20490261, PMID:21264442, PMID:21690105, PMID:21920016, PMID:23188048, PMID:23348723, PMID:24029428, PMID:24033266, PMID:25524745, PMID:25741868, PMID:25744496, PMID:25790805, PMID:26286125, PMID:28492532, PMID:2510163, PMID:18024408, PMID:20386432, PMID:11248286 RGD:1601107, RGD:11041805, RGD:11041772, RGD:11041769 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hageman factor deficiency
ClinVar Annotator: match by term: Factor XII deficiency disease
ClinVar Annotator: match by term: Factor 12 deficiency
ClinVar PMID:8528215, PMID:9354665, PMID:9490684, PMID:10361128, PMID:10984376, PMID:11843842, PMID:16638441, PMID:17186468, PMID:17825897, PMID:18974842, PMID:19178938, PMID:19474702, PMID:19786295, PMID:19933701, PMID:20303064, PMID:20490261, PMID:21264442, PMID:21690105, PMID:21920016, PMID:23188048, PMID:23348723, PMID:24029428, PMID:24033266, PMID:25524745, PMID:25741868, PMID:25744496, PMID:25790805, PMID:26286125, PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
factor XIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO DNA:nonsense mutation:intron:
ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:IVS1+12C>A(human)
DNA:insertion, missense mutation:cds:
DNA:nonsense mutations, missense mutations:cds:
DNA:mutation:cds:p.R703W(human)
ClinVar
CTD
PMID:1644910, PMID:31136071, PMID:21512576, PMID:23508224, PMID:19937244, PMID:20179087, PMID:19438481 RGD:10450726, RGD:11041869, RGD:10450730, RGD:10450729, RGD:10450727 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F13b coagulation factor XIII B chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:2334637 NCBI chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO F5F8D, OMIM:227300 RGD PMID:9546392 RGD:1600100 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
Factor Xiii, A Subunit, Deficiency Of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F13a1 coagulation factor XIII A1 chain ISO ClinVar Annotator: match by term: Factor xiii, a subunit, deficiency of
ClinVar Annotator: match by OMIM:613225
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)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1353995, PMID:1644910, PMID:7236530, PMID:7727776, PMID:7918041, PMID:8025280, PMID:8547636, PMID:9459313, PMID:9531026, PMID:9531593, PMID:9550516, PMID:9712293, PMID:9920838, PMID:10027709, PMID:10365735, PMID:10910914, PMID:11167856, PMID:11380452, PMID:11692020, PMID:12072871, PMID:12100162, PMID:12456499, PMID:14695539, PMID:16763156, PMID:17393027, PMID:19438481, PMID:20179087, PMID:21512576, PMID:21633364, PMID:22995991, PMID:24118344, PMID:24194833, PMID:25741868, PMID:26503545, PMID:28492532, PMID:28520207, PMID:31064749, PMID:24118344, PMID:8025280 RGD:11041856, RGD:11041811 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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
ClinVar Annotator: match by term: Factor xiii, b subunit, deficiency of
ClinVar Annotator: match by OMIM:613235
DNA:mutations:multiple:
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2334637, PMID:8324218, PMID:8639893, PMID:11313256, PMID:12456499, PMID:14695539, PMID:16241947, PMID:25741868, PMID:28492532, PMID:20331752 RGD:10450738 NCBI chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
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
ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1
ClinVar Annotator: match by OMIM:227300
OMIM
ClinVar
PMID:9045860, PMID:9546392, PMID:18391077, PMID:25741868, PMID:31064749 NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1
ClinVar Annotator: match by term: FMFD I
ClinVar PMID:12717434, PMID:13229969, PMID:25741868, PMID:31064749 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
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: Hemophilia B ClinVar PMID:2198809, PMID:3029178, PMID:4045960, PMID:8304338, PMID:24375831, PMID:28492532 NCBI chr  X:143,340,712...143,525,588
Ensembl chr  X:143,346,252...143,453,612
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
ClinVar Annotator: match by term: Hemophilia B
ClinVar PMID:1301932, PMID:1301960, PMID:1349567, PMID:1357455, PMID:1671991, PMID:1908096, PMID:1924291, PMID:1979502, PMID:2104741, PMID:2106480, PMID:2493803, PMID:2498882, PMID:2506948, PMID:2833855, PMID:2987704, PMID:6438527, PMID:7728145, PMID:8281136, PMID:8307558, PMID:8449505, PMID:11857744, PMID:12139751, PMID:15810915, PMID:17445092, PMID:18034822, PMID:18691168, PMID:19456877, PMID:21751985, PMID:21838755, PMID:23812942, PMID:25741868, PMID:31064749 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G F9 coagulation factor IX treatment ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
ClinVar Annotator: match by term: Factor IX deficiency
ClinVar Annotator: match by term: Hemophilia B
ClinVar Annotator: match by term: Hemophilia b(m)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:306900
DNA:mutations:cds:P.G396R,K411X,I397T(human)
DNA:nonsense mutation:cds:p.R338X (human)
ClinVar Annotator: match by term: Hemophilia B Brandenburg
ClinVar Annotator: match by synonym: Hemophilia B Leyden
ClinVar Annotator: match by synonym: HEMOPHILIA B(M)
ClinVar
CTD
OMIM
PMID:734633, PMID:884315, PMID:1346483, PMID:1346975, PMID:1598234, PMID:1615485, PMID:1615486, PMID:1631121, PMID:1631558, PMID:1733855, PMID:1864609, PMID:1897528, PMID:1902289, PMID:1958666, PMID:1969838, PMID:1986380, PMID:1998585, PMID:2004020, PMID:2066105, PMID:2087690, PMID:2198809, PMID:2220823, PMID:2270538, PMID:2320433, PMID:2339358, PMID:2342576, PMID:2352926, PMID:2355000, PMID:2370049, PMID:2372509, PMID:2388855, PMID:2438804, PMID:2450455, PMID:2472424, PMID:2494175, PMID:2563663, PMID:2564457, PMID:2592373, PMID:2714791, PMID:2738071, PMID:2741941, PMID:2743975, PMID:2753873, PMID:2757966, PMID:2762170, PMID:2773937, PMID:2775660, PMID:2821070, PMID:2831715, PMID:2841226, PMID:2846283, PMID:2848757, PMID:2873459, PMID:2875754, PMID:2886685, PMID:2917196, PMID:2929599, PMID:2992643, PMID:3009023, PMID:3029178, PMID:3181127, PMID:3243764, PMID:3262389, PMID:3392024, PMID:3401602, PMID:3411192, PMID:3416069, PMID:3790720, PMID:3857619, PMID:4033760, PMID:4045960, PMID:4163943, PMID:5298508, PMID:5450691, PMID:6603618, PMID:6843667, PMID:7062952, PMID:7101232, PMID:7677806, PMID:7734378, PMID:7937052, PMID:8091381, PMID:8178822, PMID:8199596, PMID:8217825, PMID:8251390, PMID:8304338, PMID:8314564, PMID:8318985, PMID:8320491, PMID:8352232, PMID:8392713, PMID:8434583, PMID:8478007, PMID:8499951, PMID:8594556, PMID:8680410, PMID:9525872, PMID:9590153, PMID:9600455, PMID:10094553, PMID:10595634, PMID:10698280, PMID:10739381, PMID:10942410, PMID:10980527, PMID:11122099, PMID:12780784, PMID:12997790, PMID:15086324, PMID:18624698, PMID:19286883, PMID:19522246, PMID:19699296, PMID:19815722, PMID:19846852, PMID:20301668, PMID:22103590, PMID:22544209, PMID:22639855, PMID:22707612, PMID:23093250, PMID:23472758, PMID:23617593, PMID:24375831, PMID:25326637, PMID:25470321, PMID:25741868, PMID:25851415, PMID:26612714, PMID:27213901, PMID:27529981, PMID:27824213, PMID:28168417, PMID:28492532, PMID:28752769, PMID:28834196, PMID:29993188, PMID:31064749, PMID:32581362, PMID:2041805, PMID:20351275, PMID:9354664, PMID:21122306, PMID:2714791, PMID:2752145 RGD:9685705, RGD:10450764, RGD:10450762, RGD:10450761, RGD:10450760, RGD:10450759 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link
G LOC688842 hypothetical protein LOC688842 ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809, PMID:3029178, PMID:4045960, PMID:8304338, PMID:24375831, PMID:28492532 NCBI chr  X:143,554,334...143,596,247
Ensembl chr  X:143,554,441...143,558,521
JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809, PMID:3029178, PMID:4045960, PMID:8304338, PMID:24375831, PMID:28492532 NCBI chr  X:143,159,071...143,292,467
Ensembl chr  X:143,154,209...143,274,180
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809, PMID:3029178, PMID:4045960, PMID:8304338, PMID:24375831, PMID:28492532 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link
platelet-type bleeding disorder 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Pseudo von Willebrand disease
DNA:missense mutation: :p.G233V (human)
DNA:missense mutation: :p.V239M (human)
DNA:deletion
ClinVar Annotator: match by OMIM:177820
OMIM
ClinVar
PMID:2052556, PMID:8384898, PMID:8486780, PMID:25741868, PMID:31064749, PMID:2052556, PMID:7833477, PMID:15705799 RGD:10450823, RGD:10450814, RGD:10450803 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
prothrombin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO DNA:missense mutation: :p.R418W (human)
ClinVar Annotator: match by term: Factor II deficiency
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation: :p.R271H, p.R382C, p.Q541X (human)
DNA:missense mutations, deletion, splice-site mutation: :multiple
ClinVar
CTD
PMID:2222810, PMID:2429850, PMID:3567158, PMID:6305407, PMID:6405779, PMID:7740448, PMID:8696333, PMID:8896550, PMID:8916933, PMID:9106528, PMID:9292507, PMID:9462220, PMID:9493607, PMID:9531249, PMID:9569177, PMID:9694698, PMID:9869612, PMID:10027711, PMID:10233438, PMID:10233439, PMID:10336270, PMID:10348710, PMID:10348711, PMID:10348712, PMID:10406905, PMID:10477778, PMID:10544935, PMID:11358905, PMID:11443298, PMID:11506076, PMID:11796466, PMID:11874997, PMID:11904676, PMID:15059842, PMID:15534175, PMID:16493002, PMID:19159930, PMID:19289024, PMID:19531787, PMID:19554541, PMID:19560233, PMID:19652888, PMID:20301327, PMID:21243428, PMID:21349849, PMID:23429074, PMID:24033266, PMID:25741868, PMID:27031503, PMID:28492532, PMID:30311386, PMID:1349838, PMID:8839854, PMID:14629473 RGD:1601108, RGD:10449425, RGD:10449424 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F7 coagulation factor VII IEP protein:decreased expression:plasma (rat) RGD PMID:2810399 RGD:2312318 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
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 DNA:mutations: :
ClinVar Annotator: match by OMIM:610842
OMIM
ClinVar
PMID:9615107, PMID:17110937, PMID:18800149, PMID:17110937 RGD:11040509 NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
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
ClinVar Annotator: match by OMIM:601709
OMIM
ClinVar
PMID:18988861, PMID:20007542, PMID:28492532 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
thrombophilia due to activated protein C resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Thrombophilia due to activated protein C resistance
ClinVar Annotator: match by term: Thrombophilia due to factor V Leiden
ClinVar
OMIM
PMID:7586244, PMID:7803250, PMID:7877648, PMID:7910348, PMID:7911872, PMID:8049422, PMID:8164730, PMID:8164741, PMID:8566967, PMID:8616100, PMID:8822583, PMID:9245936, PMID:9339109, PMID:9372726, PMID:9415695, PMID:9454741, PMID:9454742, PMID:9459326, PMID:9518910, PMID:9734642, PMID:10328130, PMID:10348711, PMID:10477778, PMID:10494770, PMID:10507841, PMID:10666427, PMID:11018168, PMID:11110695, PMID:11686338, PMID:11950065, PMID:12070000, PMID:12421138, PMID:12816860, PMID:14617013, PMID:14695241, PMID:14996674, PMID:15534175, PMID:15638861, PMID:16246256, PMID:16493002, PMID:16931580, PMID:19486170, PMID:19652888, PMID:20051284, PMID:21116184, PMID:21774968, PMID:23382263, PMID:23900608, PMID:24033266, PMID:25741868, PMID:26251307, PMID:28492532, PMID:31064749 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11703344 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 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, 2
DNA:missense mutation: :p.R98W (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:607473
OMIM
ClinVar
CTD
PMID:11154138, PMID:14765194, PMID:15358623, PMID:15883587, PMID:16270629, PMID:16270630, PMID:16611750, PMID:16676068, PMID:16879214, PMID:16890578, PMID:17049586, PMID:17110455, PMID:17189218, PMID:18252229, PMID:18466099, PMID:19344422, PMID:20128861, PMID:20653676, PMID:21127708, PMID:21326313, PMID:21635147, PMID:22349464, PMID:22676192, PMID:22871975, PMID:22992668, PMID:23039877, PMID:23208322, PMID:23571513, PMID:23990957, PMID:24019055, PMID:24838629, PMID:25084205, PMID:25126975, PMID:25519826, PMID:25594941, PMID:25741868, PMID:28492532, PMID:14765194 RGD:1303972 NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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 chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
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, PMID:12043692, PMID:14613933, PMID:16870550, PMID:16889557, PMID:16925796, PMID:17080221, PMID:18230755, PMID:21346256, PMID:23647798, PMID:25741868, PMID:26467025, PMID:26986123, PMID:31064749, PMID:32581362 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
von Willebrand's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO RGD PMID:4546024 RGD:11341671 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Vwf von Willebrand factor treatment ISO ClinVar Annotator: match by term: von Willebrand disorder
ClinVar Annotator: match by term: von Willebrand Diseases
ClinVar Annotator: match by term: Von Willebrand disease, recessive form
ClinVar PMID:1301136, PMID:1302613, PMID:1324533, PMID:1380739, PMID:1415226, PMID:1419803, PMID:1537829, PMID:1557393, PMID:1581215, PMID:1672694, PMID:1673047, PMID:1729889, PMID:1761120, PMID:1832934, PMID:1906877, PMID:1918030, PMID:2010538, PMID:2385594, PMID:2563148, PMID:3257148, PMID:3259690, PMID:3487353, PMID:3488775, PMID:3495304, PMID:6696046, PMID:6773982, PMID:7620154, PMID:7734373, PMID:7906590, PMID:8134377, PMID:8165603, PMID:8367445, PMID:8456430, PMID:8456431, PMID:8486782, PMID:8500791, PMID:8562925, PMID:8630394, PMID:8865541, PMID:9253800, PMID:9723578, PMID:10669167, PMID:10845912, PMID:10959712, PMID:11057846, PMID:11150026, PMID:11159522, PMID:11325649, PMID:11583318, PMID:11686102, PMID:11756169, PMID:11776047, PMID:12043692, PMID:12649144, PMID:14525793, PMID:14613933, PMID:15041272, PMID:15297300, PMID:15461624, PMID:15755288, PMID:15842375, PMID:16115133, PMID:16221672, PMID:16247740, PMID:16321553, PMID:16322474, PMID:16634745, PMID:16862529, PMID:16870550, PMID:16889557, PMID:16925796, PMID:16953269, PMID:16985174, PMID:17000885, PMID:17080221, PMID:17087728, PMID:17119126, PMID:17190853, PMID:17200787, PMID:17296575, PMID:17681836, PMID:18036186, PMID:18162126, PMID:18230755, PMID:18315546, PMID:18315556, PMID:18344424, PMID:18384353, PMID:18449422, PMID:18485763, PMID:18510569, PMID:18712522, PMID:18805962, PMID:18841300, PMID:19060241, PMID:19277422, PMID:19372260, PMID:19404524, PMID:19506353, PMID:19506354, PMID:19506361, PMID:19566550, PMID:19630771, PMID:19630772, PMID:19687512, PMID:19740526, PMID:19951969, PMID:20118404, PMID:20230424, PMID:20231421, PMID:20301765, PMID:20305138, PMID:20345715, PMID:20351307, PMID:20409624, PMID:20418283, PMID:20492463, PMID:20586924, PMID:20590881, PMID:20682599, PMID:20838735, PMID:21251206, PMID:21346256, PMID:21362127, PMID:21371195, PMID:21393328, PMID:21429375, PMID:21534937, PMID:21967679, PMID:22077376, PMID:22102201, PMID:22197721, PMID:22315491, PMID:22329792, PMID:22431572, PMID:22473027, PMID:22578129, PMID:22871923, PMID:22875612, PMID:22995991, PMID:23110044, PMID:23179108, PMID:23216583, PMID:23335371, PMID:23340442, PMID:23349392, PMID:23354996, PMID:23355534, PMID:23401897, PMID:23406206, PMID:23407766, PMID:23426949, PMID:23636243, PMID:23647798, PMID:23648131, PMID:23690449, PMID:23775583, PMID:23819767, PMID:23886775, PMID:24033266, PMID:24319188, PMID:24351655, PMID:24385719, PMID:24482836, PMID:24675615, PMID:24712919, PMID:24928861, PMID:25051961, PMID:25103891, PMID:25185554, PMID:25477497, PMID:25564403, PMID:25689060, PMID:25690668, PMID:25696906, PMID:25741868, PMID:25753785, PMID:25779970, PMID:25780857, PMID:26200876, PMID:26206100, PMID:26207643, PMID:26210168, PMID:26288715, PMID:26345337, PMID:26456374, PMID:26467025, PMID:26827609, PMID:26879396, PMID:26986123, PMID:26988807, PMID:27029718, PMID:27320760, PMID:27353798, PMID:27380589, PMID:27443694, PMID:27532107, PMID:27596108, PMID:27683759, PMID:27766062, PMID:27785872, PMID:27885890, PMID:27978591, PMID:28060120, PMID:28083987, PMID:28091443, PMID:28492532, PMID:28536718, PMID:28581694, PMID:28640903, PMID:28692141, PMID:28916584, PMID:28924049, PMID:28971901, PMID:29590070, PMID:29924855, PMID:30817071, PMID:31064749, PMID:32581362, PMID:15118671, PMID:26239086 RGD:1331525, RGD:11079196 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
von Willebrand's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 severity
no_association
ISO DNA:SNP: :807C>T (human) RGD PMID:15226188, PMID:14652648 RGD:10766468, RGD:11530070 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga2b integrin subunit alpha 2b severity ISO DNA:haplotype:cds: RGD PMID:15226188 RGD:10766468 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Plat plasminogen activator, tissue type treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: von Willebrand disease type 1
ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to
ClinVar Annotator: match by term: VWD, TYPE 1
protein:decreased expression:plasma
DNA:mutation:exon:p.C386R(human)
ClinVar Annotator: match by OMIM:193400
OMIM
ClinVar
PMID:1301136, PMID:1415226, PMID:1581215, PMID:1832934, PMID:1906877, PMID:1918030, PMID:2563148, PMID:3257148, PMID:3495304, PMID:7620154, PMID:7734373, PMID:8456430, PMID:8500791, PMID:8839833, PMID:9253800, PMID:10669167, PMID:10845912, PMID:11686102, PMID:11698279, PMID:11756169, PMID:11776047, PMID:12043692, PMID:12649144, PMID:14525793, PMID:14613933, PMID:15461624, PMID:15755288, PMID:15842375, PMID:16634745, PMID:16862529, PMID:16870550, PMID:16889557, PMID:16925796, PMID:16953269, PMID:16985174, PMID:17080221, PMID:17087728, PMID:17119126, PMID:17190853, PMID:18162126, PMID:18230755, PMID:18384353, PMID:18510569, PMID:18712522, PMID:18805962, PMID:19277422, PMID:19372260, PMID:19404524, PMID:19506354, PMID:19687512, PMID:19951969, PMID:20301765, PMID:20354512, PMID:20409624, PMID:20586924, PMID:20682599, PMID:21346256, PMID:21371195, PMID:21429375, PMID:22197721, PMID:22315491, PMID:22329792, PMID:22578129, PMID:22689647, PMID:22875612, PMID:23340442, PMID:23349392, PMID:23355534, PMID:23401897, PMID:23426949, PMID:23636243, PMID:24033266, PMID:24319188, PMID:24681721, PMID:24928861, PMID:25103891, PMID:25185554, PMID:25696906, PMID:25741868, PMID:25741869, PMID:25780857, PMID:26200876, PMID:26207643, PMID:26288715, PMID:26467025, PMID:26879396, PMID:26986123, PMID:27380589, PMID:27596108, PMID:28091443, PMID:28581694, PMID:28916584, PMID:28971901, PMID:29924855, PMID:30817071, PMID:31064749, PMID:32581362, PMID:15226188, PMID:8839833 RGD:10766468, RGD:11079205 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
von Willebrand's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO protein:decreased expression:plasma RGD PMID:16409463 RGD:10766469 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Itga2 integrin subunit alpha 2 severity ISO DNA:haplotype:promoter: RGD PMID:16409463 RGD:10766469 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga2b integrin subunit alpha 2b no_association ISO DNA:haplotype:: RGD PMID:16409463 RGD:10766469 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Vwf von Willebrand factor treatment ISO ClinVar Annotator: match by term: von Willebrand disease type 2
ClinVar Annotator: match by term: von Willebrand disease type 2N
ClinVar Annotator: match by term: von Willebrand disease type 2M
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 FACTOR POLYMORPHISM
protein:decreased expression:plasma
DNA:deletion:cds:del K 1405-1408(human)
p. R1306Q,V1316M(mouse)
DNA:missense mutation:cds:p.M1304R(human)
ClinVar Annotator: match by term: von Willebrand disease, type 2a, UMLS MESH term: Type IIA von Willebrand Disease
ClinVar Annotator: match by term: von Willebrand disease, type 2n, UMLS MESH term: Type 2N von Willebrand Disease
ClinVar Annotator: match by term: von Willebrand disease, type 2b, UMLS MESH term: Type 2B von Willebrand Disease
ClinVar Annotator: match by term: von Willebrand disease, type 2m, UMLS MESH term: Type 2M von Willebrand Disease
ClinVar Annotator: match by OMIM:613554
OMIM
ClinVar
PMID:1409710, PMID:1419803, PMID:1419804, PMID:1557393, PMID:1581215, PMID:1672694, PMID:1673047, PMID:1729889, PMID:1761120, PMID:1832934, PMID:1906179, PMID:1906877, PMID:1918030, PMID:2010538, PMID:2011604, PMID:2018834, PMID:2104761, PMID:2385594, PMID:2557900, PMID:2563148, PMID:3132965, PMID:3259690, PMID:3487353, PMID:3488775, PMID:3495304, PMID:6426499, PMID:6696046, PMID:6767976, PMID:6773982, PMID:7620154, PMID:7734373, PMID:7789955, PMID:8134377, PMID:8435341, PMID:8456431, PMID:8486782, PMID:8500791, PMID:8622978, PMID:8630394, PMID:8865541, PMID:9569179, PMID:9723578, PMID:10845912, PMID:11686102, PMID:11776047, PMID:12406074, PMID:12588351, PMID:12649144, PMID:14525793, PMID:15041272, PMID:15226181, PMID:15461624, PMID:15755288, PMID:15842375, PMID:16115133, PMID:16221672, PMID:16322474, PMID:16634745, PMID:16862529, PMID:16889557, PMID:16953269, PMID:16985174, PMID:17080221, PMID:17087728, PMID:17119126, PMID:17190853, PMID:17681836, PMID:18162126, PMID:18315546, PMID:18315556, PMID:18384353, PMID:18485763, PMID:18510569, PMID:18712522, PMID:18805962, PMID:19060241, PMID:19277422, PMID:19372260, PMID:19404524, PMID:19506354, PMID:19687512, PMID:19740526, PMID:19951969, PMID:20118404, PMID:20231421, PMID:20301765, PMID:20335223, PMID:20351307, PMID:20409624, PMID:20586924, PMID:20682599, PMID:20838735, PMID:21346256, PMID:21371195, PMID:21429375, PMID:21534937, PMID:22077376, PMID:22102201, PMID:22197721, PMID:22315491, PMID:22329792, PMID:22578129, PMID:22875612, PMID:23110044, PMID:23179108, PMID:23340442, PMID:23349392, PMID:23355534, PMID:23401897, PMID:23426949, PMID:23636243, PMID:23819767, PMID:24033266, PMID:24319188, PMID:24351655, PMID:24675615, PMID:24712919, PMID:24928861, PMID:25103891, PMID:25185554, PMID:25689060, PMID:25696906, PMID:25741868, PMID:25753785, PMID:25780857, PMID:26200876, PMID:26206100, PMID:26207643, PMID:26210168, PMID:26288715, PMID:26345337, PMID:26456374, PMID:26467025, PMID:26827609, PMID:26879396, PMID:26986123, PMID:26988807, PMID:27029718, PMID:27317792, PMID:27353798, PMID:27380589, PMID:27443694, PMID:27596108, PMID:27683759, PMID:27785872, PMID:27885890, PMID:27978591, PMID:28060120, PMID:28091443, PMID:28581694, PMID:28640903, PMID:28692141, PMID:28916584, PMID:28924049, PMID:28971901, PMID:29924855, PMID:30817071, PMID:31064749, PMID:32581362, PMID:16409463, PMID:10959688, PMID:20589313, PMID:8839848, PMID:20200350, PMID:26019279 RGD:10766469, RGD:11079206, RGD:11079203, RGD:11079202, RGD:11079201, RGD:11079200 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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, severe form
ClinVar Annotator: match by term: von Willebrand disease type 3
ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III
DNA:deletions:exons:
ClinVar Annotator: match by term: von Willebrand disease, type 3
OMIM
ClinVar
PMID:1301136, PMID:1302613, PMID:1415226, PMID:1581215, PMID:1832934, PMID:1906877, PMID:1918030, PMID:8165603, PMID:8367445, PMID:8500791, PMID:9569178, PMID:15461624, PMID:16643449, PMID:16953269, PMID:16985174, PMID:18712522, PMID:19372260, PMID:20301765, PMID:20409624, PMID:20586924, PMID:21371195, PMID:22197721, PMID:22875612, PMID:23426949, PMID:23636243, PMID:24033266, PMID:24928861, PMID:25741868, PMID:26207643, PMID:26467025, PMID:28581694, PMID:28971901, PMID:29590070, PMID:31064749, PMID:7831648 RGD:11079204 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      hematopoietic system disease 1655
        blood coagulation disease 625
          Coagulation Protein Disorders 53
            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
            Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 1
            congenital afibrinogenemia + 5
            factor V deficiency + 5
            factor VII deficiency 2
            factor VIII deficiency + 25
            factor X deficiency 3
            factor XI deficiency 3
            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 + 8
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Hemic and Lymphatic Diseases 2069
        hematopoietic system disease 1655
          blood coagulation disease 625
            Coagulation Protein Disorders 53
              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
              Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 1
              congenital afibrinogenemia + 5
              factor V deficiency + 5
              factor VII deficiency 2
              factor VIII deficiency + 25
              factor X deficiency 3
              factor XI deficiency 3
              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 + 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.