SLC20A2, solute carrier family 20 member 2, 6575

N. diseases: 104; N. variants: 36
Disease: Primary familial brain calcification ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 GeneticVariation disease BEFREE This study describes for the first time a de novo SLC20A2 mutation in a PFBC patient with migraine and mild hypovitaminosis D. This data further reinforces the pathogenic role of SLC20A2 mutations as causal factors in PFBC physiopathology. 24969325 2014
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 Biomarker disease BEFREE To investigate the role of PiT2 in PFBC development, we studied Slc20a2-knockout (KO) mice using histology, microcomputed tomography, electron microscopy, and energy-dispersive X-ray spectroscopy. 29803831 2018
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.200 Biomarker disease BEFREE Using Sanger sequencing, we screened XPR1 in 18 unrelated patients with PFBC and no SLC20A2, PDGFB, or PDGFRB mutation. 27230854 2016