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: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		disease 0.700 None 1.000 2 0 2015 2018
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.420 strong 1.000 1 0 2016 2019
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.410 strong 1.000 1 0 2015 2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 strong 1.000 1 0 2017 2019