Gene: SLC34A3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 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 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 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 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 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 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 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 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 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 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
Entrez Id: 142680
Gene Symbol: SLC34A3
SLC34A3 		0.800 CausalMutation disease CLINVAR
Entrez Id: 142680
Gene Symbol: SLC34A3
SLC34A3 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 142680
Gene Symbol: SLC34A3
SLC34A3 		0.800 Biomarker disease CTD_human