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: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 201595
Gene Symbol: STT3B
STT3B 		STT3 oligosaccharyltransferase complex catalytic subunit B 0.760 0.385 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 limited 1.000 1 0 2013 2013
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: 23111
Gene Symbol: SPART
SPART 		spartin 0.588 0.654 3.0E-07
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 moderate 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: 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: 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: 26007
Gene Symbol: TKFC
TKFC 		triokinase and FMN cyclase 0.839 0.192 3.2E-12
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 None 1.000 1 0 2020 2020
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: 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: 3703
Gene Symbol: STT3A
STT3A 		STT3 oligosaccharyltransferase complex catalytic subunit A 0.670 0.577 2.0E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2004 2004