Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 CausalMutation phenotype CLINVAR
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: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		0.100 Biomarker disease HPO
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 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 CausalMutation disease CLINVAR
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 GeneticVariation disease CLINVAR
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
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: C0270685
Disease: Cerebral calcification
Cerebral calcification 		0.400 Biomarker phenotype HPO
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		0.400 CausalMutation phenotype CLINVAR
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.100 Biomarker disease HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.100 Biomarker phenotype HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO