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Schema
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Entries
Glycogen storage disease type Ib (SLC37A4)
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authored
[InstanceEdit:3907318] D'Eustachio, P, 2013年07月19日
created
[InstanceEdit:3229131] D'Eustachio, P, 2013年03月26日
crossReference
[DatabaseIdentifier:11945065] Mondo:0009287
dbId
3229133
disease
[Disease:3229120] glycogen storage disease I
displayName
Glycogen storage disease type Ib (SLC37A4)
edited
[InstanceEdit:3907318] D'Eustachio, P, 2013年07月19日
eventOf
[Pathway:R-HSA-3229121] Glycogen storage diseases - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[FailedReaction:R-HSA-3229118] Defective SLC37A4 does not exchange G6P and Pi across the ER membrane - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019年03月25日
literatureReference
[LiteratureReference:3222602] The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic
[LiteratureReference:198463] Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib
[LiteratureReference:3229124] A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic
maxDepth
2
modified
[InstanceEdit:9847082] Weiser, Joel, 2023年10月12日
name
Glycogen storage disease type Ib (SLC37A4)
GSD Ib
normalPathway
[Pathway:R-HSA-70326] Glucose metabolism
releaseDate
2015年09月22日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:6791026] Jassal, Bijay, 2015年08月17日
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-3229133
summation
[Summation:3229262] The SLC37A4 transport protein in the endoplasmic reticulum m...
updateTrackers
[UpdateTracker:9778682] Update Tracker - [Pathway:3229133] Glycogen storage disease type Ib (SLC37A4) - v68:[updateContainedRLE]
Referrals
(updatedInstance)
[UpdateTracker:9778682] Update Tracker - [Pathway:3229133] Glycogen storage disease type Ib (SLC37A4) - v68:[updateContainedRLE]
(hasEvent)
[Pathway:R-HSA-3229121] Glycogen storage diseases
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