Idiopathic basal ganglia calcification 1
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.
|
27726124 |
2017 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Our data confirm that mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
|
25958344 |
2015 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.
|
24463626 |
2014 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Primary familial brain calcification: Genetic analysis and clinical spectrum.
|
25284758 |
2014 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
|
24065723 |
2013 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
|
23334463 |
2013 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
|
23334463 |
2013 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.
|
23939468 |
2013 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification.
|
23406454 |
2013 |
Idiopathic basal ganglia calcification 1
|
0.760 |
AlteredExpression
|
disease |
BEFREE |
We propose that the regional expression pattern of SLC20A1 and SLC20A2 might explain the unique calcification pattern observed in FIBGC patients.
|
23437308 |
2013 |
Idiopathic basal ganglia calcification 1
|
0.760 |
AlteredExpression
|
disease |
BEFREE |
Microarray analysis provided evidence that the neuroanatomical pattern of expression for SLC20A2 is highest in the regions most commonly affected in FIBGC.
|
23576097 |
2013 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Using a different technique, that is linkage analysis, mutations in EIF4G1 were implicated as a cause of Parkinson disease and mutations in SLC20A2 as a cause of familial idiopathic basal ganglia calcification.
|
22772876 |
2012 |
Idiopathic basal ganglia calcification 1
|
0.760 |
Biomarker
|
disease |
CTD_human |
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
|
22327515 |
2012 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
|
22327515 |
2012 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
|
22327515 |
2012 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
|
22327515 |
2012 |
Idiopathic basal ganglia calcification 1
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2.
|
15955065 |
2005 |
Idiopathic basal ganglia calcification 1
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Idiopathic basal ganglia calcification 1
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Idiopathic basal ganglia calcification 1
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Fahr's syndrome (disorder)
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel SLC20A2 mutation in a family with Fahr's disease.
|
30776674 |
2019 |
Fahr's syndrome (disorder)
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.
|
27726124 |
2017 |
Fahr's syndrome (disorder)
|
0.730 |
Biomarker
|
disease |
MGD |
Mutations in the SLC20A2-gene encoding the inorganic phosphate (Pi) transporter PiT2 can explain approximately 40% of the familial cases of the rare neurodegenerative disorder primary familial brain calcification (Fahr's disease).
|
26660102 |
2016 |
Fahr's syndrome (disorder)
|
0.730 |
AlteredExpression
|
disease |
BEFREE |
It also suggests that vitamin D might be used to regulate SLC20A2 gene expression, as well as reduce brain calcification which occurs in Fahr's disease and normal aging.
|
27184385 |
2016 |
Fahr's syndrome (disorder)
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia.
|
25348593 |
2014 |