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 		0.390 GeneticVariation disease BEFREE Primary familial brain calcification (PFBC), widely known as Fahr's disease, is a rare disorder caused by pathogenic variants in SLC20A2, PDGFB, PDGFRB, XPR1, or MYORG genes. 31768941 2020
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.390 GeneticVariation disease BEFREE Herein, we describe the first PFBC patient of European descent found to carry a novel homozygous MYORG mutation (p.N511Tfs*243). 30895394 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.390 GeneticVariation disease BEFREE Recently, biallelic mutations in the MYORG gene have been reported to cause PFBC with an autosomal recessive pattern of inheritance. 31009047 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.390 Biomarker disease BEFREE Mutations in five genes (SLC20A2, PDGFRB, PDGFB, XPR1, and MYORG) have been linked to PFBC. 30891739 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.390 GeneticVariation disease BEFREE MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification. 31440850 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.390 Biomarker disease GENOMICS_ENGLAND Recently, biallelic mutations in the MYORG gene have been reported to cause PFBC with an autosomal recessive pattern of inheritance. 31009047 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.390 GeneticVariation disease BEFREE Previous studies reported that SLC20A2, PDGFRB, PDGFB, XPR1 and MYORG are associated with PFBC, with SLC20A2 the main culprit. 30634018 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.390 Biomarker disease BEFREE In the last 7 years, changes in five genes [SLC20A2, PDGFRB, PDGFB, XPR1, and MYORG] have been implicated in the pathogenesis of primary familial brain calcification (PFBC), allowing for genetic delineation of this phenotypically complex neurodegenerative disorder. 31157644 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.390 Biomarker disease BEFREE We confirmed MYORG as a novel causative gene for primary familial brain calcification and further expanded the mutational and phenotypic spectrum of MYORG-related primary familial brain calcification. 30589467 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.390 GeneticVariation disease BEFREE Compound heterozygous or homozygous mutations of MYORG co-segregated completely with PFBC in six families, with logarithm of odds (LOD) score of 4.91 at the zero recombination fraction. 29910000 2018