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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


show annotations for term's descendants           Sort by:
 
Inherited Blood Coagulation Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F7 coagulation factor VII treatment ISO RGD PMID:10469179 RGD:11041654 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
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
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17493413 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
Acquired Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 IEP associated with Sepsis;protein:increased activity:lung (rat) RGD PMID:18182560 RGD:11080962 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
antithrombin III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinc1 serpin family C member 1 susceptibility ISO ClinVar Annotator: match by term: Antithrombin III deficiency
ClinVar Annotator: match by term: Antithrombin deficiency
ClinVar Annotator: match by term: Reduced antithrombin III activity
ClinVar Annotator: match by OMIM:613118
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombophilia due to antithrombin III deficiency
ClinVar Annotator: match by term: Antithrombin deficiency, UMLS OMIM term: THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
ClinVar Annotator: match by null
ClinVar
CTD
OMIM
PMID:1325679, PMID:1421387, PMID:1469094, PMID:1483705, PMID:1483709, PMID:1536946, PMID:1551681, PMID:1555650, PMID:1868237, PMID:1873224, PMID:1906811, PMID:1932746, PMID:1977621, PMID:1998601, PMID:2012760, PMID:2093312, PMID:2229057, PMID:2336381, PMID:2349545, PMID:2365065, PMID:2372510, PMID:2602168, PMID:2615648, PMID:2794060, PMID:2917133, PMID:2983542, PMID:3055413, PMID:3080419, PMID:3141397, PMID:3162733, PMID:3169232, PMID:3179438, PMID:3179448, PMID:3187951, PMID:3191114, PMID:3238650, PMID:3350974, PMID:3360140, PMID:3413737, PMID:3472589, PMID:3512602, PMID:3563974, PMID:3567355, PMID:3580302, PMID:3605071, PMID:3663508, PMID:3663935, PMID:3715788, PMID:3775688, PMID:3805013, PMID:3828226, PMID:3960724, PMID:4049307, PMID:4082101, PMID:6204398, PMID:6435583, PMID:6572945, PMID:6582486, PMID:6636045, PMID:6871107, PMID:6871478, PMID:7082587, PMID:7949130, PMID:7981186, PMID:7989582, PMID:8217824, PMID:8443391, PMID:8476848, PMID:9157604, PMID:9845533, PMID:10361121, PMID:10823268, PMID:11686319, PMID:11713457, PMID:12399451, PMID:12591924, PMID:14347873, PMID:15164384, PMID:16620552, PMID:16705712, PMID:16956830, PMID:18954896, PMID:20088933, PMID:21264449, PMID:21325262, PMID:22481271, PMID:22498748, PMID:22627591, PMID:23358206, PMID:23910795, PMID:24072242, PMID:24082793, PMID:24121110, PMID:24158114, PMID:24162787, PMID:24889358, PMID:24956267, PMID:25637381, PMID:25741868, PMID:25837307, PMID:26748602, PMID:27098529, PMID:27283015, PMID:27322195, PMID:27749296, PMID:28300866, PMID:28317092, PMID:28492532, PMID:28607330, PMID:28743742, PMID:29153735, PMID:29215785, PMID:29662868, PMID:30046692, PMID:31064749, PMID:3162535 RGD:1599321 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
autosomal dominant thrombophilia due to protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant ClinVar
OMIM
PMID:1301954, PMID:1301959, PMID:1347608, PMID:1464619, PMID:1469096, PMID:1498334, PMID:1511988, PMID:1511989, PMID:1593215, PMID:1771629, PMID:1868249, PMID:2437584, PMID:2602169, PMID:2991887, PMID:3185623, PMID:6589623, PMID:7482420, PMID:7605880, PMID:7670104, PMID:7740502, PMID:7792728, PMID:7795150, PMID:7831652, PMID:7881411, PMID:7894031, PMID:8093743, PMID:8128429, PMID:8165644, PMID:8218861, PMID:8292730, PMID:8400292, PMID:8446940, PMID:8462980, PMID:8477066, PMID:8499565, PMID:8499568, PMID:8505327, PMID:8639775, PMID:8807339, PMID:9553065, PMID:9683579, PMID:9798967, PMID:9840027, PMID:10358041, PMID:10669160, PMID:10805275, PMID:10942114, PMID:11380450, PMID:14642106, PMID:16867987, PMID:17152060, PMID:17635713, PMID:18573519, PMID:18954896, PMID:19535131, PMID:20815936, PMID:21621249, PMID:21744130, PMID:21901152, PMID:22425321, PMID:22545135, PMID:22627591, PMID:22817391, PMID:22944127, PMID:23332921, PMID:23389250, PMID:24028705, PMID:24162787, PMID:24782131, PMID:25039884, PMID:25393254, PMID:25525159, PMID:25637381, PMID:25648792, PMID:25741868, PMID:25748729, PMID:27172833, PMID:27517348, PMID:28111891, PMID:28468828, PMID:28492532, PMID:28607330, PMID:29356699, PMID:31064749 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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
autosomal recessive thrombophilia due to protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
ClinVar Annotator: match by OMIM:612304
OMIM
ClinVar
PMID:1347608, PMID:1347706, PMID:1348046, PMID:1511988, PMID:1593215, PMID:1678832, PMID:1868249, PMID:3185623, PMID:7482420, PMID:8128429, PMID:8165644, PMID:10805275, PMID:10942114, PMID:17152060, PMID:18573519, PMID:18954896, PMID:19535131, PMID:20815936, PMID:21621249, PMID:21901152, PMID:24162787, PMID:25637381, PMID:25741868, PMID:28111891, PMID:28492532, PMID:28607330, PMID:31064749 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
Bernard-Soulier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha treatment ISO ClinVar Annotator: match by term: Bernard Soulier syndrome
DNA:missense mutation, nonsense mutation: :p.C209S (715T>A) (human)
DNA:missense mutation: :p.N45S (1829A>G) (human)
DNA:missense mutation, deletion: :p.L129P, 4630_4631del (human)
DNA:missense mutation: :p.L129P (human)
DNA:missense mutation: :p.N126D (c.376A>G) (human)
DNA:missense mutation: :p.V262G (c.785T>G) (human)
OMIM
ClinVar
PMID:25741868, PMID:11776304, PMID:19404517, PMID:22044935, PMID:10089893, PMID:10996832, PMID:21173099, PMID:23995613 RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798, RGD:10450796 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta severity ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome
ClinVar Annotator: match by term: Bernard Soulier syndrome
DNA:missense mutation:exon:c.281A>G(p.D94G)(human)
DNA:deletion:cds:
DNA:mutations:cds:p.Y88C,A108P(human)
OMIM
ClinVar
PMID:10887115, PMID:25741868, PMID:31064749, PMID:32581362, PMID:28131619, PMID:12945881, PMID:17095718, PMID:9116284 RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gp9 glycoprotein IX (platelet) severity ISO ClinVar Annotator: match by term: Bernard Soulier syndrome
ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
DNA:missense mutation:cds:c.182A>G(p.N61S)(human)
ClinVar Annotator: match by OMIM:231200
DNA:mutation:cds:p.C73Y(human)
OMIM
ClinVar
PMID:8049428, PMID:8481514, PMID:11167791, PMID:14510954, PMID:21173099, PMID:21699652, PMID:25370924, PMID:25741868, PMID:28131619, PMID:28492532, PMID:28765788, PMID:31064749, PMID:32581362, PMID:28131619, PMID:8972003 RGD:13464128, RGD:11040531 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14717981 RGD:1580643 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Bernard-Soulier syndrome type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant
ClinVar Annotator: match by OMIM:153670
OMIM
ClinVar
PMID:1730088, PMID:7690774, PMID:11222377, PMID:25741868, PMID:31064749 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO DNA:missense mutation: :p.A156V (515C>T) (human)
DNA:missense mutation: :p.N41H (169A>C) (human)
RGD PMID:11222377, PMID:18815197 RGD:10450832, RGD:10450842 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
Bernard-Soulier Syndrome, Type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 ClinVar PMID:1901273, PMID:2308962, PMID:7690774, PMID:9233564, PMID:11222377, PMID:25741868 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B
ClinVar PMID:7633430, PMID:8703016, PMID:9116284, PMID:10887115, PMID:18414213, PMID:25741868, PMID:31064749, PMID:32581362 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gp9 glycoprotein IX (platelet) ISO ClinVar Annotator: match by term: Macrothrombocytopenia, familial Bernard-Soulier type ClinVar PMID:8049428, PMID:8481514, PMID:14510954, PMID:25370924, PMID:25741868, PMID:28131619, PMID:28492532, PMID:28765788, PMID:31064749 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
JBrowse link
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO DNA:missense mutations:cds:p.D21G, p.N45S (human)
ClinVar Annotator: match by term: Bernard-Soulier syndrome type C
ClinVar PMID:8049428, PMID:8481514, PMID:9163595, PMID:9886312, PMID:11167791, PMID:12100158, PMID:13442197, PMID:14510954, PMID:21173099, PMID:21699652, PMID:25370924, PMID:25741868, PMID:28131619, PMID:28395735, PMID:28492532, PMID:28765788, PMID:29636940, PMID:31064749, PMID:32581362, PMID:8481514 RGD:1599275 NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
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, misense 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
Congenital Thrombotic Disease, due to Protein C Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:25748729 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
Dysprothrombinemia 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: Dysprothrombinemia ClinVar PMID:2222810, PMID:2429850, PMID:6305407, 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 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 term: Factor v and factor viii, combined deficiency of, 2
DNA:missense mutation: :p.D122V (human)
ClinVar Annotator: match by OMIM:613625
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
Familial Platelet Disorder with Associated Myeloid Malignancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy
OMIM
ClinVar
PMID:10068652, PMID:10508512, PMID:11830488, PMID:12060124, PMID:12172547, PMID:12200707, PMID:12393679, PMID:12807882, PMID:14504086, PMID:15156185, PMID:15749889, PMID:17234761, PMID:17290219, PMID:17485549, PMID:17650443, PMID:18478040, PMID:18723428, PMID:19357396, PMID:19387465, PMID:20549580, PMID:20846103, PMID:20880108, PMID:20955399, PMID:22012064, PMID:22318203, PMID:22689681, PMID:23751892, PMID:23753029, PMID:23817177, PMID:23848403, PMID:24100448, PMID:24523240, PMID:24659740, PMID:24764152, PMID:24904105, PMID:25159113, PMID:25741868, PMID:25840971, PMID:26175287, PMID:26316320, PMID:26580448, PMID:26884589, PMID:27112265, PMID:27137476, PMID:27210295, PMID:27418648, PMID:27479822, PMID:28179279, PMID:28240786, PMID:28492532, PMID:28513614, PMID:28659335, PMID:28748566, PMID:28855357, PMID:28933735, PMID:28960434, PMID:29146883, PMID:29365323, PMID:29666006, PMID:30990344, PMID:31064749, PMID:32581362 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
Glanzmann's thrombasthenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 severity ISO RGD PMID:14687991 RGD:1582297 NCBI 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 ISO ClinVar Annotator: match by term: Glanzmann thrombasthenia
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2
ClinVar Annotator: match by term: Glanzmann's thrombasthenia
DNA:deletion:exon
DNA:insertion/deletion:exon
ClinVar Annotator: match by OMIM:273800
OMIM
ClinVar
PMID:1317725, PMID:1638023, PMID:1702098, PMID:1926040, PMID:2014236, PMID:7508443, PMID:7620188, PMID:7706461, PMID:8282784, PMID:8704171, PMID:8883261, PMID:9215749, PMID:9473221, PMID:9722314, PMID:9734640, PMID:9763559, PMID:9834222, PMID:9920835, PMID:10607701, PMID:11091187, PMID:11798398, PMID:12008952, PMID:12083483, PMID:12181054, PMID:12424194, PMID:12487785, PMID:15099289, PMID:15748238, PMID:16463284, PMID:16722529, PMID:16879215, PMID:17488698, PMID:18422845, PMID:18791937, PMID:19170775, PMID:19172520, PMID:19339519, PMID:19691478, PMID:20020534, PMID:20492470, PMID:21113249, PMID:21454453, PMID:21487445, PMID:21557682, PMID:21917754, PMID:22102273, PMID:22190468, PMID:22250950, PMID:22394243, PMID:22513797, PMID:22738334, PMID:23305224, PMID:24418945, PMID:25373348, PMID:25539746, PMID:25728920, PMID:25741868, PMID:25827233, PMID:27607598, PMID:27696190, PMID:28232155, PMID:28492532, PMID:28888044, PMID:28983057, PMID:29090484, PMID:29675921, PMID:29884513, PMID:30792900, PMID:31064749, PMID:31119735, PMID:32139434, PMID:32237906, PMID:32581362, PMID:8111043, PMID:7529063 RGD:10755480, RGD:10755476 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by OMIM:273800
ClinVar Annotator: match by term: Glanzmann thrombasthenia
ClinVar Annotator: match by term: Glanzmann thrombasthenia type A
ClinVar Annotator: match by term: Glanzmann's thrombasthenia
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1371279, PMID:1430225, PMID:1438206, PMID:1602006, PMID:2014236, PMID:2392682, PMID:2428841, PMID:7570918, PMID:7694683, PMID:8132570, PMID:8457479, PMID:8471765, PMID:8598867, PMID:8667943, PMID:8838346, PMID:9160670, PMID:9215749, PMID:9351872, PMID:9376589, PMID:9700201, PMID:9787162, PMID:9845537, PMID:10233432, PMID:10583927, PMID:10727448, PMID:11723016, PMID:12083483, PMID:12152649, PMID:12353082, PMID:14516468, PMID:14629479, PMID:14690453, PMID:15583747, PMID:15701721, PMID:16463284, PMID:16722529, PMID:17264806, PMID:19570064, PMID:19691478, PMID:19821948, PMID:20020534, PMID:20804530, PMID:21113249, PMID:21287507, PMID:21658138, PMID:22190468, PMID:22250950, PMID:22490273, PMID:22862885, PMID:24236036, PMID:24617330, PMID:24685245, PMID:25373348, PMID:25539746, PMID:25728920, PMID:25741868, PMID:25827233, PMID:27469266, PMID:28492532, PMID:28748566, PMID:30138987, PMID:30792900, PMID:30828542, PMID:31064749, PMID:31088191, PMID:31565851, PMID:32139434, PMID:32237906, PMID:32581362, PMID:1967954 RGD:10755474 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
gray platelet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Gray platelet syndrome ClinVar NCBI chr 8:118,925,682...118,977,038
Ensembl chr 8:118,926,478...118,977,051
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO DNA:nonsense mutation:c.859C>T, p.Gln287X(human) RGD PMID:24325358 RGD:11040508 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Gray platelet syndrome
ClinVar Annotator: match by OMIM:139090
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21765411, PMID:21765412, PMID:21765413, PMID:25741868, PMID:28492532, PMID:31064749, PMID:32581362, PMID:32693407 NCBI chr 8:118,893,987...118,924,390
Ensembl chr 8:118,893,995...118,926,613
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
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
DNA:duplication, deletions:introns, exons: (mouse)
ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:12125811, PMID:11056055, PMID:11861280 RGD:1578409, RGD:11087577, RGD:11087576 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:31064749 NCBI chr 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273
JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISS MouseDO NCBI chr14:79,013,808...79,015,108
Ensembl chr14:79,013,807...79,015,112
JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome MouseDO
ClinVar
NCBI chr17:26,808,193...26,833,257
Ensembl chr17:26,808,330...26,833,247
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:21665000, PMID:22461475, PMID:26575419, PMID:28492532 NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31064749 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO DNA:deletion:intron, exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:24033266, PMID:12923531 RGD:11251756 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781, PMID:8896559, PMID:9497254, PMID:9562579, PMID:9705234, PMID:12442288, PMID:14510955, PMID:15952982, PMID:16185271, PMID:17365864, PMID:20514622, PMID:20662851, PMID:24033266, PMID:25741868, PMID:26575419, PMID:26806224, PMID:28081892, PMID:28492532, PMID:29941477, PMID:30311386, PMID:31064749, PMID:32581362 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO DNA:deletion:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11590544, PMID:18414213, PMID:24033266, PMID:25525159, PMID:25741868, PMID:26575419, PMID:28492532, PMID:31064749, PMID:11455388 RGD:1599538 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense,frameshift,insertion mutations:cds:
DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)
ClinVar
CTD
PMID:24033266, PMID:25741868, PMID:26575419, PMID:28492532, PMID:12664304, PMID:11836498, PMID:23563589 RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21833017, PMID:23607980, PMID:24698632, PMID:25741868, PMID:28640947, PMID:31064749, PMID:15296495 RGD:11072072 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar
CTD
PMID:12548288, PMID:17041891, PMID:19843503, PMID:24033266, PMID:25741868, PMID:26575419, PMID:31064749, PMID:12548288, PMID:19843503 RGD:632833, RGD:11073544 NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
JBrowse link
G Kxd1 KxDL motif containing 1 ISS MouseDO NCBI chr16:20,652,863...20,666,581
Ensembl chr16:20,657,099...20,666,579
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:19897744 RGD:2324690 NCBI chr 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449
JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP RGD PMID:19897744 RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha ISS MouseDO NCBI chr15:34,393,419...34,400,466
Ensembl chr15:34,393,233...34,400,449
JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS MouseDO NCBI chr 2:139,453,774...139,528,479
Ensembl chr 2:139,453,774...139,528,162
JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISS MouseDO NCBI chr12:38,459,816...38,482,903
Ensembl chr12:38,459,832...38,484,512
JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:203300 MouseDO NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 ClinVar PMID:23364359 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO DNA:duplication:exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
ClinVar Annotator: match by term: Delta storage pool disease
ClinVar Annotator: match by OMIM:203300
ClinVar
OMIM
PMID:8274781, PMID:8896559, PMID:9497254, PMID:9562579, PMID:9705234, PMID:10971344, PMID:12442288, PMID:14510955, PMID:15952982, PMID:16185271, PMID:17365864, PMID:18326704, PMID:19334085, PMID:20514622, PMID:20662851, PMID:21458243, PMID:24033266, PMID:25741868, PMID:26806224, PMID:27593200, PMID:28081892, PMID:28492532, PMID:29941477, PMID:30311386, PMID:31064749, PMID:32581362, PMID:8896559 RGD:1625056 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:203300 MouseDO NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak Syndrome 10 ClinVar
OMIM
PMID:26744459 NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar Annotator: match by term: Hermansky Pudlak syndrome 2
ClinVar Annotator: match by OMIM:608233
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8042664, PMID:10024875, PMID:11809908, PMID:14566336, PMID:16537806, PMID:16551969, PMID:24033266, PMID:25741868, PMID:25980904, PMID:28492532 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:608233 MouseDO NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:28492532, PMID:32581362 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
ClinVar PMID:11590544, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
DNA:splice-site mutation:intron:1303+1G>A (human)
ClinVar Annotator: match by OMIM:614072
OMIM
ClinVar
PMID:11455388, PMID:11590544, PMID:18414213, PMID:24033266, PMID:25525159, PMID:25741868, PMID:27593200, PMID:28492532, PMID:11590544 RGD:11041885 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
ClinVar Annotator: match by OMIM:614073
OMIM
ClinVar
PMID:11836498, PMID:12664304, PMID:15108212, PMID:20158590, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
ClinVar Annotator: match by OMIM:614074
OMIM
ClinVar
PMID:12548288, PMID:15296495, PMID:21833017, PMID:22995991, PMID:23607980, PMID:24033266, PMID:24698632, PMID:25741868, PMID:28296950, PMID:28492532, PMID:28640947, PMID:31064749 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
ClinVar Annotator: match by OMIM:614075
OMIM
ClinVar
PMID:12548288, PMID:17041891, PMID:19843503, PMID:20158590, PMID:24033266, PMID:25741868, PMID:25949529, PMID:27225848, PMID:28492532, PMID:31064749, PMID:32581362 NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
ClinVar Annotator: match by OMIM:614076
OMIM
ClinVar
PMID:12923531, PMID:23364359, PMID:25741868, PMID:28259707 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
ClinVar Annotator: match by OMIM:614077
OMIM
ClinVar
PMID:16385460, PMID:22709368, PMID:29345414 NCBI chr 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273
JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar
PMID:21665000, PMID:22461475, PMID:25741868, PMID:26575419, PMID:28492532 NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
JBrowse link
high molecular weight kininogen deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kng2 kininogen 2 ISO DNA:misense mutation:cds:
ClinVar Annotator: match by term: High molecular weight kininogen deficiency
ClinVar Annotator: match by synonym: Kininogen deficiency, total
ClinVar Annotator: match by OMIM:228960
ClinVar
OMIM
PMID:1202089, PMID:1968772, PMID:7901207, PMID:12576314, PMID:17522339, PMID:25741868, PMID:7901207 RGD:1600407 NCBI chr11:81,509,185...81,516,759 JBrowse link
platelet-type bleeding disorder 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule ISO ClinVar Annotator: match by term: Platelet glycoprotein IV deficiency
ClinVar Annotator: match by OMIM:608404
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7533783, PMID:7686693, PMID:8696942, PMID:10890433, PMID:10946357, PMID:11019968, PMID:11352982, PMID:11499670, PMID:11718687, PMID:11950861, PMID:12031598, PMID:15282206, PMID:15671915, PMID:16493488, PMID:18305138, PMID:19403559, PMID:20722468, PMID:22993001, PMID:23649248, PMID:23856131, PMID:23966019, PMID:24033266, PMID:24917573, PMID:24960640, PMID:25330908, PMID:25741868, PMID:25798958, PMID:25995486, PMID:26528880, PMID:28137300, PMID:28492532 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:18820218 RGD:13208509 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
platelet-type bleeding disorder 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp6 glycoprotein VI ISO ClinVar Annotator: match by OMIM:614201 OMIM
ClinVar
PMID:19549989, PMID:19552682 NCBI chr 1:72,994,977...73,064,639
Ensembl chr 1:73,040,901...73,064,641
JBrowse link
platelet-type bleeding disorder 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1 ISO OMIM NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
JBrowse link
platelet-type bleeding disorder 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn1 actinin, alpha 1 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 15
ClinVar Annotator: match by OMIM:615193
OMIM
ClinVar
PMID:23434115, PMID:25741868, PMID:31064749, PMID:31237726, PMID:32581362 NCBI chr 6:103,376,557...103,470,497
Ensembl chr 6:103,375,799...103,470,555
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia ClinVar PMID:23809206, PMID:26316623 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
platelet-type bleeding disorder 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2b integrin subunit alpha 2b ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
DNA:mutation:cds:p.G13V(human)
DNA:missense mutation: :p.N2D (97A>G) (human)
DNA:mutations:promoter, exon:multiple
OMIM
ClinVar
PMID:1638023, PMID:9834222, PMID:15099289, PMID:20020534, PMID:21454453, PMID:22102273, PMID:25539746, PMID:25741868, PMID:28492532, PMID:29090484, PMID:31064749, PMID:31119735, PMID:32581362, PMID:22394243, PMID:23912132, PMID:21029361, PMID:19691478 RGD:10766467, RGD:10755470, RGD:10755469, RGD:10755462 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by OMIM:187800
ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
DNA:missense mutations, deletions, insertion:exon:multiple
ClinVar
OMIM
PMID:18065693, PMID:19336737, PMID:19570064, PMID:19821948, PMID:20081061, PMID:20804530, PMID:21287507, PMID:22490273, PMID:22862885, PMID:23253071, PMID:24617330, PMID:25741868, PMID:28492532, PMID:23912132, PMID:22250950, PMID:19691478 RGD:10755470, RGD:10755466, RGD:10755462 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
platelet-type bleeding disorder 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 ClinVar
OMIM
PMID:1065298, PMID:5681484, PMID:23927492, PMID:28041820 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
platelet-type bleeding disorder 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 ClinVar
OMIM
PMID:24958846, PMID:25741868, PMID:31064749, PMID:32581362 NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
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
platelet-type bleeding disorder 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 8
ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation
ClinVar PMID:7706468, PMID:11196645, PMID:20966167, PMID:25741868, PMID:29117459, PMID:31064749 NCBI chr 2:149,213,134...149,316,569
Ensembl chr 2:149,213,134...149,532,292
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation
ClinVar Annotator: match by term: Platelet-type bleeding disorder 8
OMIM
ClinVar
PMID:7706468, PMID:11196645, PMID:20966167, PMID:25741868, PMID:29117459, PMID:31064749 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
platelet-type bleeding disorder 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 9
ClinVar Annotator: match by OMIM:614200
OMIM
ClinVar
PMID:19500323, PMID:22862885, PMID:23368983, PMID:25741868, PMID:28492532 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 ClinVar NCBI chr 2:46,980,964...46,992,886
Ensembl chr 2:46,980,976...46,992,883
JBrowse link
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by null ClinVar PMID:11583302, PMID:12719376 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
protein C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO DNA:missense mutations:cds:p.L223F, p.I403M (human)
ClinVar Annotator: match by term: Protein C deficiency
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutation:exon:p.R87H (3203G>A) (human)
DNA:missense mutation:exon:p.A259T (8490G>A) (human)
ClinVar
CTD
PMID:1301954, PMID:1301959, PMID:1511988, PMID:1511989, PMID:2602169, PMID:3185623, PMID:7482420, PMID:7605880, PMID:8128429, PMID:8165644, PMID:8499565, PMID:8807339, PMID:9798967, PMID:10805275, PMID:10942114, PMID:14707701, PMID:18376272, PMID:18573519, PMID:18954896, PMID:21445774, PMID:22545135, PMID:22817391, PMID:22944127, PMID:23332921, PMID:23389250, PMID:24028705, PMID:24162787, PMID:25637381, PMID:25741868, PMID:28111891, PMID:28492532, PMID:31064749, PMID:8128429, PMID:8845458, PMID:11434940 RGD:1578392, RGD:11099985, RGD:11099984 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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
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
Scott syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano6 anoctamin 6 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:7989579, PMID:21107324 NCBI chr 7:137,142,063...137,335,208
Ensembl chr 7:137,142,170...137,335,208
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, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggcx gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, 1
ClinVar Annotator: match by term: Vitamin k-dependent clotting factors, combined deficiency of, 1
DNA:missense mutations:cds:P.D31N,W157R,T157K(human)
DNA:mutations:splice site,exon:
ClinVar Annotator: match by OMIM:277450
OMIM
ClinVar
PMID:2145029, PMID:9845520, PMID:10934213, PMID:11071668, PMID:15287948, PMID:16720838, PMID:17144668, PMID:20075945, PMID:28492532, PMID:16720838, PMID:15287948 RGD:11040511, RGD:11040510 NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, 1 ClinVar NCBI chr 4:100,297,478...100,303,047
Ensembl chr 4:100,296,075...100,303,080
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
Wiskott-Aldrich syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp3 forkhead box P3 ISS OMIM:301000 | OMIM:614493 MouseDO NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1
ClinVar Annotator: match by term: Aldrich syndrome
OMIM
ClinVar
CTD
PMID:2906042, PMID:7579347, PMID:7735919, PMID:7753869, PMID:8069912, PMID:8528198, PMID:8528199, PMID:8595430, PMID:8666397, PMID:8673127, PMID:8682510, PMID:8757563, PMID:9126958, PMID:9326235, PMID:9657775, PMID:10202051, PMID:10447259, PMID:10653325, PMID:10691337, PMID:10737997, PMID:11167787, PMID:11298372, PMID:11442475, PMID:11598004, PMID:11793485, PMID:12073025, PMID:12199801, PMID:12351383, PMID:12437929, PMID:12727931, PMID:12969986, PMID:14504083, PMID:14566484, PMID:14612666, PMID:15284122, PMID:15497008, PMID:16091449, PMID:16511828, PMID:16638962, PMID:17065640, PMID:17213309, PMID:17250667, PMID:17390083, PMID:17400488, PMID:17703096, PMID:18162713, PMID:19308710, PMID:19817875, PMID:20173115, PMID:20959042, PMID:21185603, PMID:21771083, PMID:22523910, PMID:23033889, PMID:23160469, PMID:24210885, PMID:24728327, PMID:25741868, PMID:25931402, PMID:26261240, PMID:27264129, PMID:27993330, PMID:28492532, PMID:28641574, PMID:28931895, PMID:30981783, PMID:31064749, PMID:8069912 RGD:1599803 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:60,150,001...60,207,125
Ensembl chr 3:60,150,021...60,166,013
JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wipf1 WAS/WASL interacting protein family, member 1 ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22231303, PMID:24033266, PMID:27742395, PMID:28492532 NCBI chr 3:60,150,001...60,207,125
Ensembl chr 3:60,150,021...60,166,013
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      hematopoietic system disease 1653
        blood coagulation disease 624
          Inherited Blood Coagulation Disease 101
            Bernard-Soulier syndrome + 4
            Dysprothrombinemia 1
            Essential Athrombia 0
            Factors VIII, IX and XI, Combined Deficiency of 0
            Familial Multiple Coagulation Factor Deficiency II 0
            Familial Multiple Coagulation Factor Deficiency IV 0
            Familial Multiple Coagulation Factor Deficiency VI 0
            Familial Platelet Disorder with Associated Myeloid Malignancy 1
            Glanzmann's thrombasthenia + 4
            Hermansky-Pudlak syndrome + 23
            Passovoy Factor 0
            Pechet Factor Deficiency 0
            Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 1
            Scott syndrome 1
            Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 2
            Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 1
            Wiskott-Aldrich syndrome + 3
            antithrombin III deficiency 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
            gray platelet syndrome + 3
            hemophilia B 7
            high molecular weight kininogen deficiency 1
            platelet-type bleeding disorder 10 2
            platelet-type bleeding disorder 11 1
            platelet-type bleeding disorder 12 0
            platelet-type bleeding disorder 14 1
            platelet-type bleeding disorder 15 2
            platelet-type bleeding disorder 17 1
            platelet-type bleeding disorder 18 1
            platelet-type bleeding disorder 19 0
            platelet-type bleeding disorder 20 0
            platelet-type bleeding disorder 3 1
            platelet-type bleeding disorder 8 2
            platelet-type bleeding disorder 9 2
            protein C deficiency + 2
            prothrombin deficiency + 2
            thrombophilia due to activated protein C resistance 4
            von Willebrand's disease + 8
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          blood coagulation disease 624
            Inherited Blood Coagulation Disease 101
              Bernard-Soulier syndrome + 4
              Dysprothrombinemia 1
              Essential Athrombia 0
              Factors VIII, IX and XI, Combined Deficiency of 0
              Familial Multiple Coagulation Factor Deficiency II 0
              Familial Multiple Coagulation Factor Deficiency IV 0
              Familial Multiple Coagulation Factor Deficiency VI 0
              Familial Platelet Disorder with Associated Myeloid Malignancy 1
              Glanzmann's thrombasthenia + 4
              Hermansky-Pudlak syndrome + 23
              Passovoy Factor 0
              Pechet Factor Deficiency 0
              Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 1
              Scott syndrome 1
              Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 2
              Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 1
              Wiskott-Aldrich syndrome + 3
              antithrombin III deficiency 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
              gray platelet syndrome + 3
              hemophilia B 7
              high molecular weight kininogen deficiency 1
              platelet-type bleeding disorder 10 2
              platelet-type bleeding disorder 11 1
              platelet-type bleeding disorder 12 0
              platelet-type bleeding disorder 14 1
              platelet-type bleeding disorder 15 2
              platelet-type bleeding disorder 17 1
              platelet-type bleeding disorder 18 1
              platelet-type bleeding disorder 19 0
              platelet-type bleeding disorder 20 0
              platelet-type bleeding disorder 3 1
              platelet-type bleeding disorder 8 2
              platelet-type bleeding disorder 9 2
              protein C deficiency + 2
              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.