SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Disease: Hypocalcemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.110 GeneticVariation phenotype BEFREE A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia. 30558554 2018
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.110 Biomarker phenotype HPO