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Details on Person maturity-onset diabetes of the young

Class:Id	Disease:5623598
_displayName	maturity-onset diabetes of the young
_timestamp	2014-09-17 15:40:00
created	[InstanceEdit:5623578] Jassal, Bijay, 2014-09-17
definition	A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production.
identifier	0050524
name	maturity-onset diabetes of the young
referenceDatabase	[ReferenceDatabase:1247631] DOID
synonym	MODY MASON-TYPE DIABETES
(disease)	[Pathway:5619073] Defective GCK causes maturity-onset diabetes of the young 2 (MODY2) [Homo sapiens] [FailedReaction:5621918] Defective GCK does not phosphorylate Glc to form G6P [Homo sapiens] [DefinedSet:5621837] GCK mutants [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5621848] GCK G261R [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5621850] GCK A378T [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5621852] GCK T228M [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5621863] GCK G229R [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5621903] GCK E279* [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5621913] GCK E339K [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by maturity-onset diabetes of the young (5623598)