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blood platelet disease Show undefined attributes

created [InstanceEdit:9705353] Shamovsky, Veronica, 2020年10月23日

databaseName DOID

dbId 9705355

definition A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.

displayName blood platelet disease

identifier 2218

name

blood platelet disease

referenceDatabase [ReferenceDatabase:1247631] DOID

schemaClass Disease

synonym

platelet disorder
Thrombocytopathy

url https://www.ebi.ac.uk/ols/ontologies/doid/terms?obo_id=DOID:2218

Referrals

(disease)

[Pathway:R-HSA-9823587] Defects of platelet adhesion to exposed collagen
[Pathway:R-HSA-9846298] Defective binding of VWF variant to GPIb:IX:V
[FailedReaction:R-HSA-9823706] VWF variant does not bind GPIb:IX:V
[Complex:R-HSA-9823694] VWF variant multimer:collagen type I fibril [extracellular region]
[DefinedSet:R-HSA-9823695] VWF A1 domain variant multimer [extracellular region]
[Complex:R-HSA-9823710] VWF Q1402P multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9823711] VWF Q1402P (764-2813) [extracellular region]
[Complex:R-HSA-9823709] VWF S1394F multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9823696] VWF S1394F (764-2813) [extracellular region]
[Complex:R-HSA-9823698] VWF S1387I multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9823697] VWF S1387I (764-2813) [extracellular region]
[Complex:R-HSA-9823713] VWF S1358N multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9823703] VWF S1358N (764-2813) [extracellular region]
[Pathway:R-HSA-9845619] Enhanced cleavage of VWF variant by ADAMTS13
[BlackBoxEvent:R-HSA-9844241] ADAMTS13 cleaves VWF variant multimer
[Complex:R-HSA-9844233] Collagen type I fibril:cleaved VWF variant multimer [extracellular region]
[DefinedSet:R-HSA-9846324] Cleaved VWF variants with increased susceptibility to proteolysis [extracellular region]
[DefinedSet:R-HSA-9852780] Cleaved VWF G1579R multimer [extracellular region]
[Complex:R-HSA-9852779] VWF G1579R multimer:VWF G1579R (764-1605) [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9852786] VWF G1579R (764-1605) [extracellular region]
[Complex:R-HSA-9852781] VWF G1579R multimer:VWF (1606-2813) [extracellular region]
[DefinedSet:R-HSA-9852783] Cleaved VWF C1099P multimer [extracellular region]
[Complex:R-HSA-9852789] VWF C1099P multimer:VWF (1606-2813) [extracellular region]
[Complex:R-HSA-9852791] VWF C1099P multimer:VWF C1099P (764-1605) [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9852778] VWF C1099P (764-1605) [extracellular region]
[DefinedSet:R-HSA-9852782] Cleaved VWF I1568N multimer [extracellular region]
[Complex:R-HSA-9852787] VWF I1568N multimer:VWF I1568N (764-1605) [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9852790] VWF I1568N (764-1605) [extracellular region]
[Complex:R-HSA-9852775] VWF I1568N multimer:VWF I1568N (1606-2813) [extracellular region]
[DefinedSet:R-HSA-9852784] Cleaved VWF G1631D multimer [extracellular region]
[Complex:R-HSA-9852776] VWF G1631 multimer:VWF (764-1605) [extracellular region]
[Complex:R-HSA-9852785] VWF G1631D multimer:VWF G1631D (1606-2813) [extracellular region]
[DefinedSet:R-HSA-9852774] Cleaved VWF Y1584C multimer [extracellular region]
[Complex:R-HSA-9844265] VWF Y1584C multimer:VWF Y1584C (764-1605) [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9852765] VWF Y1584C (764-1605) [extracellular region]
[Complex:R-HSA-9844219] VWF Y1584C multimer:VWF (1606-2813) [extracellular region]
[Complex:R-HSA-9844209] Collagen type I fibril:VWF variant multimer [extracellular region]
[ChemicalDrug:R-ALL-9705540] cilostazol [cytosol]
[ChemicalDrug:R-ALL-9705522] anagrelide [cytosol]
[ChemicalDrug:R-ALL-9649959] aspirin [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9824345] VWF L1733P (764-2813) [extracellular region]
[Complex:R-HSA-9824348] VWF L1733P multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9823681] VWF S1731L (764-2813) [extracellular region]
[Complex:R-HSA-9823688] VWF S1731L multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9823657] VWF K1794E (764-2813) [extracellular region]
[Complex:R-HSA-9823658] VWF K1794E multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9823615] VWF S1731T (764-2813) [extracellular region]
[Complex:R-HSA-9823585] VWF S1731T multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9823588] VWF S1783A (764-2813) [extracellular region]
[Complex:R-HSA-9823601] VWF S1783A multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9823634] VWF H1786D (764-2813) [extracellular region]
[Complex:R-HSA-9823633] VWF H1786D multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9823611] VWF W1745C (764-2813) [extracellular region]
[Complex:R-HSA-9823581] VWF W1745C multimer [extracellular region]
[CandidateSet:R-HSA-9823594] VWF A3 domain variant multimer [extracellular region]
[FailedReaction:R-HSA-9823593] VWF variant does not bind to collagen type I
[Pathway:R-HSA-9845622] Defective VWF binding to collagen type I
[EntityWithAccessionedSequence:R-HSA-9844197] GP1BA D251Y [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-9844258] GP1BA W246L [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-9844240] GP1BA M255V [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-9844257] GP1BA G249V [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-9844280] GP1BA G249S [plasma membrane]
[DefinedSet:R-HSA-9844268] GP1BA variant [plasma membrane]
[Complex:R-HSA-9844275] GP1BA variant:GP1BB:GP9 [plasma membrane]
[Complex:R-HSA-9844193] GP1BA variant:GP1BB:GP9:GP5 [plasma membrane]
[Complex:R-HSA-9844246] Collagen type I fibril:VWF multimer:GP1BA variant:GP1BB:GP9:GP5 [plasma membrane]
[Reaction:R-HSA-9844251] GP1BA variant binds to VWF multimer:collagen
[Pathway:R-HSA-9845620] Enhanced binding of GP1BA variant to VWF multimer:collagen
[EntityWithAccessionedSequence:R-HSA-9824393] ADAMTS13 A250V [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9824391] ADAMTS13 Q449* [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9824387] ADAMTS13 P475S [extracellular region]
[CandidateSet:R-HSA-9824403] ADAMTS13 variant [extracellular region]
[FailedReaction:R-HSA-9824402] ADAMTS13 variant does not cleave VWF multimer
[Pathway:R-HSA-9845621] Defective VWF cleavage by ADAMTS13 variant
[EntityWithAccessionedSequence:R-HSA-9844214] VWF G1579R (764-2813) [extracellular region]
[Complex:R-HSA-9844213] VWF G1579R multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9844202] VWF Y1584C (764-2813) [extracellular region]
[Complex:R-HSA-9844293] VWF Y1584C multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9844230] VWF G1631D (764-2813) [extracellular region]
[Complex:R-HSA-9852768] VWF G1631D multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9844221] VWF C1099P (764-2813) [extracellular region]
[Complex:R-HSA-9844264] VWF C1099P multimer [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9844203] VWF I1568N (764-2813) [extracellular region]
[Complex:R-HSA-9844217] VWF I1568N multimer [extracellular region]
[DefinedSet:R-HSA-9844196] VWF variants with increased susceptibility to proteolysis [extracellular region]

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