Reactome Pathway Database
Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Reactome Pathway Database
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Search ...
Go!
Schema
>
Pathway
>
Entries
Defective GALE causes EDG
Show undefined attributes
Go to Details
authored
[InstanceEdit:5609973] Jassal, Bijay, 2014年07月18日
created
[InstanceEdit:5609973] Jassal, Bijay, 2014年07月18日
crossReference
[DatabaseIdentifier:11945018] Mondo:0018116
dbId
5609977
disease
[Disease:5610005] galactosemia
displayName
Defective GALE causes EDG
edited
[InstanceEdit:5609973] Jassal, Bijay, 2014年07月18日
eventOf
[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[FailedReaction:R-HSA-5610036] Defective GALE does not epimerise UDP-Gal to UDP-Glc - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019年03月25日
literatureReference
[LiteratureReference:5610027] Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication
[LiteratureReference:5610051] Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency
[LiteratureReference:5678667] Epimerase-deficiency galactosemia is not a binary condition
maxDepth
2
modified
[InstanceEdit:9847082] Weiser, Joel, 2023年10月12日
name
Defective GALE causes EDG
Defective GALE causes Epimerase-deficiency galactosemia (EDG)
normalPathway
[Pathway:R-HSA-70370] Galactose catabolism
releaseDate
2015年06月17日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5678669] Timson, David J, 2015年02月25日
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-5609977
summation
[Summation:5610024] Cytosolic UDP-galactose 4'-epimerase (GALE) catalyses the re...
updateTrackers
[UpdateTracker:9778128] Update Tracker - [Pathway:5609977] Defective GALE causes EDG - v68:[updateContainedRLE]
Referrals
(updatedInstance)
[UpdateTracker:9778128] Update Tracker - [Pathway:5609977] Defective GALE causes EDG - v68:[updateContainedRLE]
(hasEvent)
[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis
© 2025
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text
Download
Close
AltStyle
によって変換されたページ
(->オリジナル)
/
アドレス:
モード:
デフォルト
音声ブラウザ
ルビ付き
配色反転
文字拡大
モバイル