SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Disease: Calcium pyrophosphate deposition disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		0.110 GeneticVariation disease BEFREE We report a 49-year-old woman with an acute swollen left knee due to acute pseudogout with chondrocalcinosis as a presenting feature of Gitelman syndrome due a novel homozygous mutation of the SLC12A3 gene. 30813745 2019
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		0.110 Biomarker disease HPO