Reactome | Mondo:0007361

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Mondo:0007361 Show undefined attributes

databaseName	Mondo
dbId	12020817
displayName	Mondo:0007361
identifier	0007361
referenceDatabase	[ReferenceDatabase:12020742] Mondo
schemaClass	DatabaseIdentifier
url	https://monarchinitiative.org/MONDO:0007361

Referrals

(crossReference)

[EntityWithAccessionedSequence:R-HSA-9651434] SERPING1 L273del [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650547] SERPING1 Q474* [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9651381] SERPING1 F225* [endoplasmic reticulum lumen]
[Pathway:R-HSA-9946127] Defects of contact activation system and kallikrein-kinin system
[Pathway:R-HSA-9657689] Defective SERPING1 causes hereditary angioedema
[Pathway:R-HSA-9671793] Diseases of hemostasis
[FailedReaction:R-HSA-9651456] SERPING1 variant does not bind factor XIIa
[FailedReaction:R-HSA-9650447] SERPING1 variant is not secreted
[FailedReaction:R-HSA-9651467] SERPING1 variant does not bind kallikrein
[EntityWithAccessionedSequence:R-HSA-9650562] SERPING1 T467P [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650561] SERPING1 G493R [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650555] SERPING1 R494* [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9651433] SERPING1 D84_T138del [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650522] SERPING1 S280_P282del [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650402] SERPING1 A458V [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650511] SERPING1 R400C [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650410] SERPING1 Q484* [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9651451] SERPING1 L481R [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650568] SERPING1 P498S [extracellular region]
[CandidateSet:R-HSA-9650491] HAE type 2-causing SERPING1 variants [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650502] SERPING1 W482* [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650538] SERPING1 F236S [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650330] SERPING1 P489R [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650355] SERPING1 Y496* [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650548] SERPING1 G493E [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650553] SERPING1 R466C [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650563] SERPING1 P476L [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9651385] SERPING1 G345R [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650560] SERPING1 R466H [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650544] SERPING1 P498R [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650331] SERPING1 V473M [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650362] SERPING1 S170P [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650572] SERPING1 R466S [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9651387] SERPING1 S318* [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650569] SERPING1 A456E [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650554] SERPING1 A458T [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650446] SERPING1 I462S [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9651435] SERPING1 A2_M53del [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650574] SERPING1 L177P [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650424] SERPING1 G184R [endoplasmic reticulum lumen]
[CandidateSet:R-HSA-9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650346] SERPING1 T189N [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9651424] SERPING1 Q338* [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9651423] SERPING1 S36Ffs*21 [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650527] SERPING1 G184E [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650545] SERPING1 N291H [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9651390] SERPING1 I196N [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9651448] SERPING1 L481P [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650472] SERPING1 G184_P228del [endoplasmic reticulum lumen]
[EntityWithAccessionedSequence:R-HSA-9650436] SERPING1 R466L [extracellular region]
[EntityWithAccessionedSequence:R-HSA-9650415] SERPING1 V288E [endoplasmic reticulum lumen]

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