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: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9 		disease 0.700 strong 1.000 2 0 2014 2017
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.410 None 1.000 1 0 2014 2020
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.400 None 1.000 1 0 2014 2014
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 None 1.000 1 0 2014 2014
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		phenotype 0.400 None 1.000 1 0 2014 2014
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.400 None 1.000 1 0 2014 2014
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 None 1.000 1 0 2014 2014
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.310 None 1.000 1 0 2014 2020
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.300 None 1.000 1 0 2014 2014
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 None 1.000 1 0 2014 2014
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.300 None 1.000 1 0 2014 2014