SLC20A2, solute carrier family 20 member 2, 6575

N. diseases: 104; N. variants: 36
Disease: Fahr's syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		0.730 GeneticVariation disease BEFREE We have identified a novel SLC20A2 mutation in a family with Fahr's disease. 30776674 2019
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. 27726124 2017
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		0.730 Biomarker disease MGD Mutations in the SLC20A2-gene encoding the inorganic phosphate (Pi) transporter PiT2 can explain approximately 40% of the familial cases of the rare neurodegenerative disorder primary familial brain calcification (Fahr's disease). 26660102 2016
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		0.730 AlteredExpression disease BEFREE It also suggests that vitamin D might be used to regulate SLC20A2 gene expression, as well as reduce brain calcification which occurs in Fahr's disease and normal aging. 27184385 2016
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		0.730 GeneticVariation disease BEFREE Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia. 25348593 2014
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		0.730 Biomarker disease MGD Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice. 23934451 2013
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		0.730 GermlineCausalMutation disease ORPHANET Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 22327515 2012