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Go!
Schema
>
DatabaseIdentifier
>
Entries
Mondo:0004736
Show undefined attributes
databaseName
Mondo
dbId
12020922
displayName
Mondo:0004736
identifier
0004736
referenceDatabase
[ReferenceDatabase:12020742] Mondo
schemaClass
DatabaseIdentifier
url
https://monarchinitiative.org/MONDO:0004736
Referrals
(crossReference)
[EntityWithAccessionedSequence:R-HSA-5625045] SLC1A1 R445W [plasma membrane]
[Complex:R-HSA-9631849] SLC3A2:SLC7A7 mutants [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5625023] SLC1A1 I395del [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5653849] SLC36A2 V56* [plasma membrane]
[DefinedSet:R-HSA-5660894] SLC7A7 mutants [plasma membrane]
[DefinedSet:R-HSA-5653860] SLC36A2 mutants [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660952] SLC7A7 Y457* [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5653855] SLC36A2 G87V [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660949] SLC7A7 T299Ifs*10 [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660932] SLC7A7 T188I [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660926] SLC7A7 L334R [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660850] SLC7A7 W242* [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-5660933] SLC7A7 M50K [plasma membrane]
[DefinedSet:R-HSA-5625024] SLC1A1 mutants [plasma membrane]
[FailedReaction:R-HSA-5660910] Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane
[FailedReaction:R-HSA-5659764] Defective SLC6A2 does not cotransport NAd, Na+ from extracellular region to cytosol
[FailedReaction:R-HSA-5653850] Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol
[Pathway:R-HSA-9912481] Branched-chain ketoacid dehydrogenase kinase deficiency
[Pathway:R-HSA-5619041] Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
[Pathway:R-HSA-9865118] Diseases of branched-chain amino acid catabolism
[Pathway:R-HSA-5619101] Variant SLC6A20 affecting neurotransmitter transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
[Pathway:R-HSA-5660862] Defective amino acid transport by SLC7A7 causes lysinuric protein intolerance (LPI)
[Pathway:R-HSA-5660686] Variant SLC6A20 affecting amino acid transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
[FailedReaction:R-HSA-5660694] Variant SLC6A20 does not cotransport L-Pro, Na+ from extracellulare region to cytosol
[Pathway:R-HSA-5619067] Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
[FailedReaction:R-HSA-5625029] SLC1A1 does not cotransport L-Glu,L-Asp,D-Asp,H+,3Na+ from extracellular region to cytosol
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