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
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
>
LiteratureReference
>
Entries
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Show undefined attributes
author
[Person:5625069] Hsu, SC
[Person:5625121] Sears, RL
[Person:5625134] Lemos, RR
[Person:5625153] Quintáns, B
[Person:5625070] Huang, A
[Person:5625085] Spiteri, E
[Person:2470650] Nevarez, L
[Person:5625106] Mamah, C
[Person:5625073] Zatz, M
[Person:5625133] Pierce, KD
[Person:5625104] Fullerton, JM
[Person:5625094] Adair, JC
[Person:5625077] Berner, JE
[Person:5625152] Bower, M
[Person:5625135] Brodaty, H
[Person:5625112] Carmona, O
[Person:5625136] Dobrici?, V
[Person:5625122] Fogel, BL
[Person:5625082] García-Estevez, D
[Person:5625147] Goldman, J
[Person:5625114] Goudreau, JL
[Person:5625081] Hopfer, S
[Person:5625072] Jankovi?, M
[Person:5625103] Jaumà, S
[Person:3247975] Jen, JC
[Person:5625127] Kirdlarp, S
[Person:3247934] Klepper, J
[Person:5625076] Kosti?, V
[Person:5625090] Lang, AE
[Person:5625139] Linglart, A
[Person:5625088] Maisenbacher, MK
[Person:5625132] Manyam, BV
[Person:5625071] Mazzoni, P
[Person:5625151] Miedzybrodzka, Z
[Person:5625102] Mitarnun, W
[Person:5625080] Mitchell, PB
[Person:5625084] Mueller, J
[Person:5625100] Novakovi?, I
[Person:5625138] Paucar, M
[Person:5625116] Paulson, H
[Person:5625087] Simpson, SA
[Person:5625098] Svenningsson, P
[Person:5625110] Tuite, P
[Person:5625113] Vitek, J
[Person:5625146] Wetchaphanphesat, S
[Person:5625148] Williams, C
[Person:5625145] Yang, M
[Person:5625086] Schofield, PR
[Person:5625101] de Oliveira, JR
[Person:5625128] Sobrido, MJ
[Person:5625108] Geschwind, DH
[Person:5625155] Coppola, G
created
[InstanceEdit:5625099] Jassal, Bijay, 2014-10-02
dbId
5625089
displayName
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
journal
Neurogenetics
pages
11-22
pubMedIdentifier
23334463
schemaClass
LiteratureReference
title
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
url
http://www.ncbi.nlm.nih.gov/pubmed/23334463
volume
14
year
2013
Referrals
(author)
[Person:5625128] Sobrido, MJ
[Person:5625134] Lemos, RR
[Person:3247934] Klepper, J
[Person:5625153] Quintáns, B
[Person:5625152] Bower, M
[Person:5625155] Coppola, G
[Person:5625077] Berner, JE
[Person:5625076] Kosti?, V
[Person:5625073] Zatz, M
[Person:5625072] Jankovi?, M
[Person:5625085] Spiteri, E
[Person:5625084] Mueller, J
[Person:5625087] Simpson, SA
[Person:5625086] Schofield, PR
[Person:5625081] Hopfer, S
[Person:5625080] Mitchell, PB
[Person:5625082] García-Estevez, D
[Person:5625069] Hsu, SC
[Person:5625071] Mazzoni, P
[Person:5625070] Huang, A
[Person:5625108] Geschwind, DH
[Person:5625110] Tuite, P
[Person:5625104] Fullerton, JM
[Person:5625106] Mamah, C
[Person:5625116] Paulson, H
[Person:5625113] Vitek, J
[Person:5625112] Carmona, O
[Person:5625114] Goudreau, JL
[Person:5625094] Adair, JC
[Person:5625088] Maisenbacher, MK
[Person:3247975] Jen, JC
[Person:5625090] Lang, AE
[Person:5625101] de Oliveira, JR
[Person:5625100] Novakovi?, I
[Person:5625103] Jaumà, S
[Person:5625102] Mitarnun, W
[Person:2470650] Nevarez, L
[Person:5625098] Svenningsson, P
[Person:5625136] Dobrici?, V
[Person:5625139] Linglart, A
[Person:5625138] Paucar, M
[Person:5625148] Williams, C
[Person:5625151] Miedzybrodzka, Z
[Person:5625145] Yang, M
[Person:5625147] Goldman, J
[Person:5625146] Wetchaphanphesat, S
[Person:5625127] Kirdlarp, S
[Person:5625121] Sears, RL
[Person:5625122] Fogel, BL
[Person:5625133] Pierce, KD
[Person:5625132] Manyam, BV
[Person:5625135] Brodaty, H
(literatureReference)
[Pathway:R-HSA-5619111] Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)
[FailedReaction:R-HSA-5625123] Defective SLC20A2 does not cotransport Pi, Na+ from extracellular region to cytosol
© 2026
Reactome
This website requires cookies and the limited processing of your personal data in order to function. By using the site you are agreeing to this as outlined in our
Privacy Notice
.
I agree, dismiss this banner
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text