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
>
EntityFunctionalStatus
>
Entries
loss_of_function of SHH variants [endoplasmic reticulum lumen]
Show undefined attributes
created
[InstanceEdit:5358455] Rothfels, Karen, 2014年03月28日
dbId
5358457
diseaseEntity
[CandidateSet:R-HSA-5358456] SHH variants [endoplasmic reticulum lumen]
displayName
loss_of_function of SHH variants [endoplasmic reticulum lumen]
functionalStatus
[FunctionalStatus:2317386] loss_of_function via missense_variant
modified
[InstanceEdit:9631717] Wu, G, 2018年12月12日
normalEntity
[Complex:R-HSA-5490380] NglycoAsn-Hh precursors:P4HB [endoplasmic reticulum lumen]
schemaClass
EntityFunctionalStatus
Referrals
(entityFunctionalStatus)
[FailedReaction:R-HSA-5358460] HPE SHH variants don't undergo autoproteolytic cleavage
© 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