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 |
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 |
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 |
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 |
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 |
Brain calcification Rajab type
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Brain calcification Rajab type
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Brain calcification Rajab type
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
Lung Diseases, Interstitial
|
0.420 |
Biomarker
|
group |
HPO |
|
|
|
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 |
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 |
Microcephaly
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Cerebral calcification
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cerebral calcification
|
0.400 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
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 |
Anemia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Aneurysm
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Ascites
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cholestasis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Coughing
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Pathological accumulation of air in tissues
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|