SLC20A2, solute carrier family 20 member 2, 6575

N. diseases: 104; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 Biomarker disease GENOMICS_ENGLAND Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. 27726124 2017
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease BEFREE Our data confirm that mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. 25958344 2015
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease UNIPROT Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. 24463626 2014
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease UNIPROT Primary familial brain calcification: Genetic analysis and clinical spectrum. 25284758 2014
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease UNIPROT Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. 24065723 2013
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease BEFREE Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. 23334463 2013
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease UNIPROT Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. 23334463 2013
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease UNIPROT Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. 23939468 2013
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease UNIPROT Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. 23406454 2013
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 AlteredExpression disease BEFREE We propose that the regional expression pattern of SLC20A1 and SLC20A2 might explain the unique calcification pattern observed in FIBGC patients. 23437308 2013
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 AlteredExpression disease BEFREE Microarray analysis provided evidence that the neuroanatomical pattern of expression for SLC20A2 is highest in the regions most commonly affected in FIBGC. 23576097 2013
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease BEFREE Using a different technique, that is linkage analysis, mutations in EIF4G1 were implicated as a cause of Parkinson disease and mutations in SLC20A2 as a cause of familial idiopathic basal ganglia calcification. 22772876 2012
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 Biomarker disease CTD_human Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 22327515 2012
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease BEFREE Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 22327515 2012
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease UNIPROT Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 22327515 2012
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease CLINVAR Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. 22327515 2012
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 GeneticVariation disease UNIPROT Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2. 15955065 2005
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 CausalMutation disease CLINVAR
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.760 Biomarker disease GENOMICS_ENGLAND
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