Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.420 Biomarker group HPO
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 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: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.100 CausalMutation disease CLINVAR
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.100 GeneticVariation disease 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: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.100 Biomarker phenotype HPO
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.100 Biomarker phenotype HPO
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0018681
Disease: Headache
Headache 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		0.100 Biomarker phenotype HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.100 Biomarker phenotype HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO
CUI: C0008370
Disease: Cholestasis
Cholestasis 		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