Reactome Pathway Database

Schema > CandidateSet > Entries

ADAMTS13 variant [extracellular region] Show undefined attributes

catalystActivities

[CatalystActivity:9824418] metalloendopeptidase activity of ADAMTS13 variant [extracellular region]

compartment

[Compartment:984] extracellular region

created [InstanceEdit:9824417] Shamovsky, Veronica, 2023年01月19日

crossReference

[DatabaseIdentifier:11944943] Mondo:0000009

dbId 9824403

disease

[Disease:9705355] blood platelet disease

displayName ADAMTS13 variant [extracellular region]

hasCandidate

[EntityWithAccessionedSequence:R-HSA-9824393] ADAMTS13 A250V [extracellular region] - Homo sapiens

hasMember

inDisease true

literatureReference

[LiteratureReference:9824389] Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity

maxDepth 2

name

ADAMTS13 variant

schemaClass CandidateSet

species

[Species:48887] Homo sapiens

stId R-HSA-9824403

Referrals

(diseaseEntity)

[EntityFunctionalStatus:9824404] loss_of_function of ADAMTS13 variant [extracellular region]

(physicalEntity)

[CatalystActivity:9824418] metalloendopeptidase activity of ADAMTS13 variant [extracellular region]

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