SLC34A1, solute carrier family 34 member 1, 6569

N. diseases: 73; N. variants: 51
Disease: Hypercalcemia, infantile, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		0.700 GeneticVariation disease UNIPROT Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. 26047794 2016
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		0.700 Biomarker disease GENOMICS_ENGLAND A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. 20335586 2010
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		0.700 CausalMutation disease CLINVAR
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		0.700 GeneticVariation disease CLINVAR
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		0.700 Biomarker disease CTD_human