×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
CausalMutation
disease
CLINVAR
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
Biomarker
disease
BEFREE
Loss of function of the SLC34A3 protein presumably results in a primary renal tubular defect and is compatible with the HHRH phenotype.
16358215
2006
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
Biomarker
disease
GENOMICS_ENGLAND
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
24700880
2014
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
Biomarker
disease
GENOMICS_ENGLAND
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria .
16849419
2006
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
BEFREE
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria .
22672866
2012
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
UNIPROT
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
16358214
2006
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
BEFREE
Hereditary hypophosphatemic rickets with hypercalciuria is a rare metabolic disorder associated with mutations in SLC34A3 , the gene that encodes the renal sodium phosphate cotransporter NaPi-IIc.
18996815
2008
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
BEFREE
Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria .
24176905
2014
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
BEFREE
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria .
16849419
2006
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
BEFREE
Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family.
23246670
2013
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
BEFREE
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.
18480181
2008
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
BEFREE
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
16358214
2006
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
Biomarker
disease
BEFREE
Suppression of Npt2c may downregulate Npt2a function in HHRH patients.
30317447
2019
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
BEFREE
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
24246249
2014
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
Biomarker
disease
CTD_human
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GeneticVariation
disease
UNIPROT
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3 .
16358215
2006
×
Entrez Id:
142680
Gene Symbol:
SLC34A3
SLC34A3
0.800
GermlineCausalMutation
disease
ORPHANET
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3 .
16358215
2006