SLC12A1, solute carrier family 12 member 1, 6557

N. diseases: 87; N. variants: 29
Disease: Focal glomerulosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 GeneticVariation disease BEFREE Renal biopsy showed focal segmental glomerulosclerosis (FSGS), and genetic testing revealed novel mutations of A555V and G809V in the SLC12A1 gene. 18830715 2009