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
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.420 Biomarker group BEFREE Recently, biallelic FARSB defects have been shown to cause severe growth restriction with combined brain, liver and lung involvement (Rajab interstitial lung disease [ILD] with brain calcifications). 31355908 2019
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.420 Biomarker group 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: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.420 GeneticVariation group BEFREE Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. 30014610 2018
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.420 Biomarker group HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 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: C0270685
Disease: Cerebral calcification
Cerebral calcification
0.400 Biomarker phenotype 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: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker disease HPO
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
0.400 Biomarker phenotype HPO
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
0.400 CausalMutation phenotype CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker group 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: C0002871
Disease: Anemia
Anemia
0.100 Biomarker disease HPO
CUI: C0002940
Disease: Aneurysm
Aneurysm
0.100 CausalMutation disease CLINVAR
CUI: C0003962
Disease: Ascites
Ascites
0.100 Biomarker phenotype HPO
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.100 Biomarker disease HPO
CUI: C0010200
Disease: Coughing
Coughing
0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
Pathological accumulation of air in tissues
0.100 Biomarker phenotype HPO