Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 833
Gene Symbol: CARS1
CARS1 		cysteinyl-tRNA synthetase 1 0.722 0.538 4.0E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 833
Gene Symbol: CARS1
CARS1 		cysteinyl-tRNA synthetase 1 0.722 0.538 4.0E-04
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 833
Gene Symbol: CARS1
CARS1 		cysteinyl-tRNA synthetase 1 0.722 0.538 4.0E-04
CUI: C1856963
Disease: Fragile nails
Fragile nails 		phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 833
Gene Symbol: CARS1
CARS1 		cysteinyl-tRNA synthetase 1 0.722 0.538 4.0E-04
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype 0.300 strong 1.000 1 0 2019 2019