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