Reactome | carbamoyl phosphate synthetase I deficiency disease

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carbamoyl phosphate synthetase I deficiency disease Show undefined attributes

created	[InstanceEdit:9955409] Rothfels, Karen, 2025-06-10
databaseName	DOID
dbId	9955434
definition	OMIM mapping confirmed by DO. [SN].
displayName	carbamoyl phosphate synthetase I deficiency disease
identifier	9280
name	carbamoyl phosphate synthetase I deficiency disease
referenceDatabase	[ReferenceDatabase:1247631] DOID
schemaClass	Disease
synonym	CPS I deficiency
url	https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:9280

Referrals

(disease)

[Pathway:R-HSA-9955542] CPS1 variants cause CPS1 deficiency
[FailedReaction:R-HSA-9955543] CPS1 variants don't synthesize carbamoyl phosphate
[DefinedSet:R-HSA-9955386] CPS1 variants [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956410] CPS1 Q335* [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955384] CPS1 R721* [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956409] CPS1 E714* [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955433] CPS1 Y140* [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955402] CPS1 R787* [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955405] CPS1 Q478* [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955390] CPS1 Q44* [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955391] CPS1 R238* [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955398] CPS1 P1411L [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955385] CPS1 Y1491H [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955415] CPS1 A1378T [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955399] CPS1 R1453W [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955395] CPS1 R1453Q [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955406] CPS1 L1381S [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955387] CPS1 T1433A [mitochondrial matrix]
[CandidateSet:R-HSA-9955383] NAG-binding domain variants of CPS1 [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955435] CPS1 H1195P [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955401] CPS1 D1205N [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955429] CPS1 I1054R [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955410] CPS1 S1203P [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955404] CPS1 R1089L [mitochondrial matrix]
[CandidateSet:R-HSA-9955413] carbamate phosphorylation domain variants of CPS1 [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955414] CPS1 Y962C [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955397] CPS1 R850C [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955412] CPS1 R850H [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955396] CPS1 R932T [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955377] CPS1 A949T [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955441] CPS1 G964D [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955424] CPS1 L843S [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955421] CPS1 S913L [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955403] CPS1 I937N [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955394] CPS1 G911V [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955393] CPS1 T871P [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955425] CPS1 S918P [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955392] CPS1 G911E [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955439] CPS1 D914G [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955419] CPS1 V959C [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955417] CPS1 L958P [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955400] CPS1 D914H [mitochondrial matrix]
[CandidateSet:R-HSA-9955380] integrating domain variants of CPS1 [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955420] CPS1 H337R [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955430] CPS1 L390R [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955378] CPS1 N355D [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955418] CPS1 V389C [mitochondrial matrix]
[CandidateSet:R-HSA-9955407] Glnase-like domain variants of CPS1 [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955426] CPS1 R803S [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955375] CPS1 R803G [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955411] CPS1 A438P [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955376] CPS1 T544M [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955408] CPS1 P774L [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955437] CPS1 T471N [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955389] CPS1 Q678P [mitochondrial matrix]
[CandidateSet:R-HSA-9955423] bicarbonate phosphorylation domain variants of CPS1 [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955431] CPS1 R1262* [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955381] CPS1 Q375* [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9955440] CPS1 Y1031* [mitochondrial matrix]

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