×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GeneticVariation
disease
BEFREE
Pulmonary alveolar microlithiasis (PAM) is caused by genetic variants in the <i>SLC34A2</i> gene, which encodes the sodium-dependent phosphate transport protein 2B .
31831582
2020
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GeneticVariation
disease
BEFREE
Biallelic inactivating SLC34A2 mutations are found in patients with pulmonary alveolar microlithiasis , a lung disease characterized by the deposition of microcrystals.
30542787
2019
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GeneticVariation
disease
BEFREE
A mutation in the IIb sodium phosphate transporter SLC34A2 gene has recently been described in pulmonary alveolar microlithiasis (PAM) patients.
29375690
2018
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GermlineCausalMutation
disease
ORPHANET
SLC34A2 Gene mutation of pulmonary alveolar microlithiasis : report of four cases and review of literatures.
23164546
2013
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GeneticVariation
disease
BEFREE
SLC34A2 Gene mutation of pulmonary alveolar microlithiasis : report of four cases and review of literatures.
23164546
2013
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GeneticVariation
disease
BEFREE
We present two cases of pulmonary alveolar microlithiasis with different mutations in the SLC34A2 gene that have not been previously described , and a review of the literature.
22941890
2012
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GermlineCausalMutation
disease
ORPHANET
A frame-shift mutation in the SLC34A2 gene in three patients with pulmonary alveolar microlithiasis in an inbred family.
20046000
2010
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GeneticVariation
disease
BEFREE
A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study.
19329736
2009
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GeneticVariation
disease
BEFREE
Mutations in the SLC34A2 gene that abolish normal gene function cause pulmonary alveolar microlithiasis .
17095743
2007
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GeneticVariation
disease
BEFREE
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.
16960801
2006
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
GeneticVariation
disease
UNIPROT
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.
16960801
2006
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
Biomarker
disease
GENOMICS_ENGLAND
Inherited interstitial lung disease.
15331184
2004
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
CausalMutation
disease
CLINVAR
×
Entrez Id:
10568
Gene Symbol:
SLC34A2
SLC34A2
0.780
Biomarker
disease
CTD_human
×
Entrez Id:
8074
Gene Symbol:
FGF23
FGF23
0.010
AlteredExpression
disease
BEFREE
Mutation analysis and serum FGF23 level in a patient with pulmonary alveolar microlithiasis .
20960258
2010