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Details on Person Gitelman syndrome

Class:Id	Disease:5623757
_displayName	Gitelman syndrome
_timestamp	2014-09-19 08:46:07
created	[InstanceEdit:5623756] Jassal, Bijay, 2014-09-19
identifier	0050450
name	Gitelman syndrome
referenceDatabase	[ReferenceDatabase:1247631] DOID
synonym	HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
(disease)	[Pathway:5619087] Defective SLC12A3 causes Gitelman syndrome (GS) [Homo sapiens] [FailedReaction:5623705] Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol [Homo sapiens] [EntityWithAccessionedSequence:5623689] SLC12A3 T392I [plasma membrane] [Homo sapiens] [DefinedSet:5623704] SLC12A3 mutants [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623713] SLC12A3 E121D [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623714] SLC12A3 T60M [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623728] SLC12A3 L850P [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623751] SLC12A3 L272P [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5623761] SLC12A3 G741R [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by Gitelman syndrome (5623757)