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: 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: 57551
Gene Symbol: TAOK1
TAOK1 		TAO kinase 1 0.792 0.269 1.00
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8 		alkB homolog 8, tRNA methyltransferase 0.716 0.423 2.0E-04
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 moderate 1.000 1 0 2019 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: 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: 87178
Gene Symbol: PNPT1
PNPT1 		polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 moderate 1.000 1 0 2019 2019
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: 8560
Gene Symbol: DEGS1
DEGS1 		delta 4-desaturase, sphingolipid 1 0.621 0.731 0.14
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 strong 1.000 1 0 2019 2019
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: 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: 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: 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