rs1553554543, FARSB

N. diseases: 5
Disease: Brain calcification Rajab type ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brain calcification Rajab type
CUI: C3150910
Disease: Brain calcification Rajab type
0.700 GeneticVariation UNIPROT Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. 30014610 2018
Brain calcification Rajab type
CUI: C3150910
Disease: Brain calcification Rajab type
0.700 GeneticVariation UNIPROT Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. 29979980 2018
Brain calcification Rajab type
CUI: C3150910
Disease: Brain calcification Rajab type
0.700 GeneticVariation UNIPROT Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. 29573043 2018