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: 10943
Gene Symbol: MSL3
MSL3 		MSL complex subunit 3 0.861 0.115 1.00
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 114803
Gene Symbol: MYSM1
MYSM1 		Myb like, SWIRM and MPN domains 1 0.700 0.462 4.3E-02
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4 		potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 5881
Gene Symbol: RAC3
RAC3 		Rac family small GTPase 3 0.682 0.423 2.6E-03
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 7067
Gene Symbol: THRA
THRA 		thyroid hormone receptor alpha 0.566 0.769 0.33
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype 0.300 strong 1.000 1 0 2018 2018
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