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: 23028
Gene Symbol: KDM1A
KDM1A 		lysine demethylase 1A 0.512 0.808 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 strong 1.000 1 0 2016 2016
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
Entrez Id: 2558
Gene Symbol: GABRA5
GABRA5 		gamma-aminobutyric acid type A receptor subunit alpha5 0.621 0.385 0.91
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 strong 1.000 1 0 2018 2019
Entrez Id: 2555
Gene Symbol: GABRA2
GABRA2 		gamma-aminobutyric acid type A receptor subunit alpha2 0.641 0.346 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 strong 1.000 1 0 1978 2018
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		transcription factor 20 0.644 0.423 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 strong 1.000 1 0 2016 2019
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.310 strong 1.000 1 0 2017 2017
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.320 limited 1.000 1 0 2013 2019
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R 		insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.320 strong 1.000 1 0 2013 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.320 strong 1.000 1 0 2007 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.330 strong 1.000 1 0 2000 2019
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.420 strong 1.000 1 0 2015 2017