SLC34A1, solute carrier family 34 member 1, 6569

N. diseases: 73; N. variants: 51
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676786
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. 25050900 2014
CUI: C2676786
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 		0.700 Biomarker disease GENOMICS_ENGLAND A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. 20335586 2010
CUI: C2676786
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 		0.700 GeneticVariation disease UNIPROT Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. 12324554 2002
CUI: C2676786
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 		0.700 Biomarker disease GENOMICS_ENGLAND Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. 12324554 2002
CUI: C2676786
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 		0.700 CausalMutation disease CLINVAR
CUI: C2676786
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 		0.700 Biomarker disease CTD_human