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Details on Person amino acid metabolic disorder

Class:IdDisease:5625037
_displayNameamino acid metabolic disorder
_timestamp2014-10-01 12:43:57
created[InstanceEdit:5625030] Jassal, Bijay, 2014-10-01
definitionAn inherited metabolic disorders which impair the synthesis and degradation of amino acids.
identifier9252
nameamino acid metabolic disorder
referenceDatabase[ReferenceDatabase:1247631] DOID
synonyminborn errors of amino acid metabolism
(disease)[EntityWithAccessionedSequence:5625023] SLC1A1 I395del [plasma membrane] [Homo sapiens]
[DefinedSet:5625024] SLC1A1 mutants [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5625045] SLC1A1 R445W [plasma membrane] [Homo sapiens]
[DefinedSet:5625724] SLC1A1 mutants [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5653849] SLC36A2 V56* [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5653855] SLC36A2 G87V [plasma membrane] [Homo sapiens]
[DefinedSet:5653860] SLC36A2 mutants [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5659726] SLC6A18 G496R [plasma membrane] [Homo sapiens]
[DefinedSet:5659737] SLC6A18 mutants [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5659751] SLC6A18 G79S [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by amino acid metabolic disorder (5625037)