SLC34A1, solute carrier family 34 member 1, 6569

N. diseases: 73; N. variants: 51
Disease: Hypercalcemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.450 GeneticVariation disease BEFREE CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype. 31188746 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.450 GeneticVariation disease BEFREE Analyses of the SLC34A1 gene were performed due to hypercalcemia and hypophosphatemia. 30227399 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.450 GeneticVariation disease BEFREE Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations. 29959532 2018
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.450 Biomarker disease BEFREE Analysis of calcium and phosphate metabolism in Slc34a1-knockout mice highlighted the effect of phosphate depletion and fibroblast growth factor-23 suppression on the development of the IIH phenotype. 26047794 2016
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.450 Biomarker disease BEFREE Our cases suggest a contiguous gene deletion syndrome including NSD1 and SLC34A1 and provide a potential genetic basis for idiopathic infantile hypercalcemia. 21597970 2011
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.450 Biomarker disease CTD_human Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. 9560283 1998
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.450 Biomarker disease HPO