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: 116461
Gene Symbol: TSEN15
TSEN15 		tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		disease 0.700 None 1.000 2 0 2015 2016
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15 		tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 moderate 1.000 1 0 2015 2015
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15 		tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 moderate 1.000 1 0 2015 2015
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15 		tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15 		tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
CUI: C0476241
Disease: Delayed developmental milestones
Delayed developmental milestones 		phenotype 0.300 moderate 1.000 1 0 2015 2015