SLC7A9, solute carrier family 7 member 9, 11136

N. diseases: 48; N. variants: 39
Disease: Kidney Calculi ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.020 GeneticVariation disease BEFREE For example, common variants in the UMOD and PRKAG2 genes are associated with risk of chronic kidney disease; variants in CLDN14 with risk of kidney stone disease; and variants in or near SHROOM3, STC1, LASS2, GCKR, NAT8/ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, FAM122A/PIP5K1B, ATXN2, DACH1, UBE2Q2/FBXO22, and SLC7A9, with differences in glomerular filtration rate. 20728256 2010
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.020 GeneticVariation disease BEFREE Cystinuria is an autosomal recessive disease that is manifested by kidney stones and is caused by mutations in two genes: SLC3AI on chromosome 2p and SLC7A9 on chromosome 19q. 17710781 2007