Reactome | Mondo:0700081

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Mondo:0700081 Show undefined attributes

databaseName	Mondo
dbId	12020948
displayName	Mondo:0700081
identifier	0700081
referenceDatabase	[ReferenceDatabase:12020742] Mondo
schemaClass	DatabaseIdentifier
url	https://monarchinitiative.org/MONDO:0700081

Referrals

(crossReference)

[EntityWithAccessionedSequence:R-HSA-5688002] SFTPB P121Efs*95 [endoplasmic reticulum membrane]
[DefinedSet:R-HSA-5688378] pro-SFTPC mutants [endoplasmic reticulum membrane]
[EntityWithAccessionedSequence:R-HSA-5683705] ABCA3 T1173R [lamellar body membrane]
[EntityWithAccessionedSequence:R-HSA-5683697] ABCA3 D253H [lamellar body membrane]
[EntityWithAccessionedSequence:R-HSA-5688394] ABCA3 E292V [lamellar body membrane]
[EntityWithAccessionedSequence:R-HSA-5683671] ABCA3 L1553P [lamellar body membrane]
[EntityWithAccessionedSequence:R-HSA-5683666] ABCA3 L326P [lamellar body membrane]
[DefinedSet:R-HSA-5688403] ABCA3 mutants [lamellar body membrane]
[EntityWithAccessionedSequence:R-HSA-5688389] ABCA3 E690K [lamellar body membrane]
[DefinedSet:R-HSA-5688020] pro-SFTPB mutants [endoplasmic reticulum membrane]
[EntityWithAccessionedSequence:R-HSA-5688352] pro-SFTPC P115L [endoplasmic reticulum membrane]
[EntityWithAccessionedSequence:R-HSA-5688388] ABCA3 N568D [lamellar body membrane]
[EntityWithAccessionedSequence:R-HSA-5683658] ABCA3 L101P [lamellar body membrane]
[EntityWithAccessionedSequence:R-HSA-5688390] ABCA3 T1114M [lamellar body membrane]
[EntityWithAccessionedSequence:R-HSA-5688015] SFTPB Q45Kfs*8 [endoplasmic reticulum membrane]
[EntityWithAccessionedSequence:R-HSA-5688365] pro-SFTPC P30L [endoplasmic reticulum membrane]
[DefinedSet:R-HSA-5683704] ABCA3 mutants [lamellar body membrane]
[EntityWithAccessionedSequence:R-HSA-5683691] ABCA3 W1142* [lamellar body membrane]
[FailedReaction:R-HSA-5688397] Defective ABCA3 does not transport PC, PG from ER membrane to lamellar body
[FailedReaction:R-HSA-5688025] Defective pro-SFTPB does not translocate from ER membrane to multivesicle body
[Pathway:R-HSA-5688354] Defective pro-SFTPC causes SMDP2 and RDS
[Pathway:R-HSA-5688031] Defective pro-SFTPB causes SMDP1 and RDS
[Pathway:R-HSA-5688399] Defective ABCA3 causes SMDP3
[FailedReaction:R-HSA-5683672] Defective ABCA3 does not transport PC, PG from ER membrane to lamellar body
[Pathway:R-HSA-5683678] Defective ABCA3 causes SMDP3
[FailedReaction:R-HSA-5688377] Defective pro-SFTPC does not translocate from ER membrane to multivesicle body
[FailedReaction:R-HSA-5687875] Defective SFTPA2 does not translocate from ER membrane to extracellular region
[Pathway:R-HSA-5687868] Defective SFTPA2 causes IPF

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